IMPDH1

Summary

IMPDH1 (inosine monophosphate dehydrogenase 1, HGNC:6052) is a protein-coding gene on chromosome 7q32.1, encoding Inosine-5’-monophosphate dehydrogenase 1 (P20839). Catalyzes the conversion of inosine 5’-phosphate (IMP) to xanthosine 5’-phosphate (XMP), the first committed and rate-limiting step in the de novo synthesis of guanine nucleotides, and therefore plays an important role in the regulation of cell growth.

The protein encoded by this gene acts as a homotetramer to regulate cell growth. The encoded protein is an enzyme that catalyzes the synthesis of xanthine monophosphate (XMP) from inosine-5’-monophosphate (IMP). This is the rate-limiting step in the de novo synthesis of guanine nucleotides. Defects in this gene are a cause of retinitis pigmentosa type 10 (RP10). Several transcript variants encoding different isoforms have been found for this gene.

Source: NCBI Gene 3614 — RefSeq curated summary.

At a glance

• Gene–disease (curated): IMPDH1-related retinopathy (Definitive, ClinGen) — +4 more curated relationships
• GWAS associations: 1
• Clinical variants (ClinVar): 701 total — 19 pathogenic, 16 likely-pathogenic
• Phenotypes (HPO): 56
• Druggable target: yes — 2 molecules with ChEMBL bioactivity
• MANE Select transcript: NM_000883

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:6052
Approved symbol	IMPDH1
Name	inosine monophosphate dehydrogenase 1
Location	7q32.1
Locus type	gene with protein product
Status	Approved
Aliases	sWSS2608, LCA11
Ensembl gene	ENSG00000106348
Ensembl biotype	protein_coding
OMIM	146690
Entrez	3614

Gene structure

Transcript identifiers

Ensembl transcripts: 25 — 18 protein_coding, 5 retained_intron, 2 nonsense_mediated_decay

ENST00000338791, ENST00000348127, ENST00000354269, ENST00000419067, ENST00000460045, ENST00000468842, ENST00000469328, ENST00000470772, ENST00000473463, ENST00000480861, ENST00000484496, ENST00000489263, ENST00000491376, ENST00000496200, ENST00000496487, ENST00000497868, ENST00000648462, ENST00000877814, ENST00000877815, ENST00000877816, ENST00000917542, ENST00000955324, ENST00000955325, ENST00000955326, ENST00000955327

RefSeq mRNA: 8 — MANE Select: NM_000883 NM_000883, NM_001102605, NM_001142573, NM_001142574, NM_001142575, NM_001142576, NM_001304521, NM_183243

CCDS: CCDS34748, CCDS34749, CCDS43643, CCDS47699, CCDS47700, CCDS55161

Canonical transcript exons

ENST00000338791 — 17 exons

Exon	Start	End
ENSE00000720954	128400095	128400182
ENSE00000720959	128400333	128400539
ENSE00001386100	128409441	128409484
ENSE00003462669	128396600	128396695
ENSE00003466227	128395131	128395274
ENSE00003468671	128392277	128393028
ENSE00003561746	128409756	128409982
ENSE00003576230	128394278	128394361
ENSE00003584381	128401015	128401116
ENSE00003613199	128394889	128395033
ENSE00003628665	128403706	128403754
ENSE00003678435	128400817	128400891
ENSE00003687984	128396932	128397022
ENSE00003690774	128405767	128405865
ENSE00003693994	128394456	128394599
ENSE00003784205	128398414	128398613
ENSE00004010808	128409289	128409352

Expression profiles

Bgee: expression breadth ubiquitous, 249 present calls, max score 97.63.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 25.4353 / max 258.3864, expressed in 1809 samples.

FANTOM5 promoters (6 alternative TSS)

Promoter ID	TPM avg	Samples expressed
86067	10.4622	1757
86061	9.6377	1724
86066	2.7777	1328
86062	1.9827	1214
86065	0.4392	234
86064	0.1358	35

Top tissues by expression

283 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
granulocyte	CL:0000094	97.63	gold quality
monocyte	CL:0000576	96.47	gold quality
leukocyte	CL:0000738	96.16	gold quality
mononuclear cell	CL:0000842	96.11	gold quality
body of stomach	UBERON:0001161	95.68	gold quality
endometrium epithelium	UBERON:0004811	95.30	gold quality
stromal cell of endometrium	CL:0002255	95.01	gold quality
omental fat pad	UBERON:0010414	94.93	gold quality
peritoneum	UBERON:0002358	94.89	gold quality
blood	UBERON:0000178	94.63	gold quality
spleen	UBERON:0002106	94.16	gold quality
adipose tissue of abdominal region	UBERON:0007808	94.00	gold quality
stomach	UBERON:0000945	93.80	gold quality
mucosa of stomach	UBERON:0001199	93.37	gold quality
cortical plate	UBERON:0005343	93.04	gold quality
apex of heart	UBERON:0002098	92.96	gold quality
tibial nerve	UBERON:0001323	92.77	gold quality
upper lobe of left lung	UBERON:0008952	92.72	gold quality
minor salivary gland	UBERON:0001830	92.41	gold quality
right ovary	UBERON:0002118	92.41	gold quality
right lung	UBERON:0002167	92.32	gold quality
fundus of stomach	UBERON:0001160	92.22	gold quality
type B pancreatic cell	CL:0000169	92.12	gold quality
lower esophagus	UBERON:0013473	92.09	gold quality
lower esophagus muscularis layer	UBERON:0035833	92.08	gold quality
saliva-secreting gland	UBERON:0001044	91.98	gold quality
left ovary	UBERON:0002119	91.69	gold quality
adenohypophysis	UBERON:0002196	91.64	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	91.62	gold quality
body of pancreas	UBERON:0001150	91.56	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 2.

Experiment	Marker?	Max mean expression
E-MTAB-3929	yes	762.93
E-ANND-3	yes	8.04

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): MYC

miRNA regulators (miRDB)

82 targeting IMPDH1, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-29A-3P	100.00	73.11	1835
HSA-MIR-29B-3P	100.00	73.18	1833
HSA-MIR-29C-3P	100.00	73.15	1833
HSA-MIR-1184	99.99	68.19	1458
HSA-MIR-19A-3P	99.98	75.33	2762
HSA-MIR-19B-3P	99.98	75.44	2754
HSA-MIR-9-3P	99.96	70.88	2068
HSA-MIR-454-3P	99.91	74.01	1925
HSA-MIR-130A-3P	99.90	73.31	1861
HSA-MIR-130B-3P	99.90	73.27	1850
HSA-MIR-301A-3P	99.90	73.15	1839
HSA-MIR-301B-3P	99.90	73.19	1836
HSA-MIR-3666	99.90	73.24	1833
HSA-MIR-4295	99.90	73.11	1838
HSA-MIR-6783-3P	99.89	67.92	2059
HSA-MIR-1343-3P	99.89	66.78	1815
HSA-MIR-4671-3P	99.88	72.46	1045
HSA-MIR-1321	99.84	65.30	1811
HSA-MIR-4739	99.84	65.25	1832
HSA-MIR-4756-5P	99.84	64.98	1809
HSA-MIR-3663-3P	99.84	70.39	798
HSA-MIR-518A-5P	99.70	69.01	2209
HSA-MIR-527	99.70	69.01	2209
HSA-MIR-6887-3P	99.66	67.83	1778
HSA-MIR-4690-5P	99.65	66.24	813
HSA-MIR-1827	99.63	68.57	3265
HSA-MIR-1249-5P	99.61	66.55	2049
HSA-MIR-6797-5P	99.61	66.55	2084
HSA-MIR-4516	99.61	67.78	3390
HSA-MIR-6836-5P	99.60	65.62	1538

Literature-anchored findings (GeneRIF, showing 38)

• This mutant isoenzyme maps to human chromosome region 7q and has an amino acid substitution (arginine for proline). It is involved in the etiology of autosomal dominant retinitis pigmentosa in humans. (PMID:11875049)
• A missense mutation in this isozyme causes human autosomal retinitis pigmentosa. (PMID:11875050)
• A novel IMPDH1 gene mutation (Arg231Pro) was associated with a severe form of autosomal dominant retinitis pigmentosa. (PMID:15465556)
• The most commonly reported Asp226Asn mutation was not found in the Japanese population, instead two novel mutations were found. These findings suggest that mutations of the IMPDH1 gene cause ADRP (autosomal dominant retinitis pigmentosa). (PMID:16038673)
• Asp226Asn mutation is associated with a severe, early-onset form of retinal degeneration in members of this family. (PMID:16214101)
• In this family with a mutation in IMPDH1, we found a specific phenotype with rod function affected more than cone function, foveal edema, and central retinal function preserved for a long period of time. (PMID:16272056)
• Mutations in IMPDH1 account for approximately 2% of families with adRP, and de novo IMPDH1 mutations are also rare causes of isolated LCA (Leber congenital amaurosis). (PMID:16384941)
• Identification of unique retinal isoforms supports the existence of a novel IMPDH1 function in the retina, one that is probably altered by disease-causing mutations. (PMID:16936083)
• If IMPDH genetic variability contributes to azathioprine resistance in inflammatory bowel disease it does so infrequently. (PMID:17001353)
• Mycophenolate mofetil up-regulates IMPDH-I and IMPDH-II mRNA in peripheral blood mononuclear cells. May predict acute rejection. (PMID:17713475)
• C-terminal extension unique to the retinal isoforms blocks the nucleic acid binding site of IMPDH1, and thus uniquely regulates protein function within photoreceptors. (PMID:18295591)
• RHO, PRPF31, RP1, and IMPDH1 were screened and causative mutations were identifiedin 4% of isolated and 2% of autosomal dominant forms of retinitis pigmentosa patients from India. (PMID:18552984)
• IMP dehydrogenase type 1 associates with polyribosomes translating rhodopsin mRNA (PMID:18974094)
• In this small sample of pediatric heart transplant patients receiving MMF, ABCC2, IMPDH1 and IMPDH2 SNPs were associated with MMF GI intolerance and bone marrow toxicity. (PMID:20061166)
• The risk of subclinical acute rejection for recipients who cannot adapt in therapeutic drug monitoring of mycophenolic acid seems to be influenced by IMPDH1 rs2278293 polymorphism. (PMID:20136638)
• The mutation frequency of IMPDH1 gene of the Han population in Ganzhou city was similar as approximately 2-5% of the autosomal dominant retinitis pigmentosa cases among Americans of European origin and Europeans. (PMID:20238028)
• Inosine 5’-monophosphate dehydrogenase 1 haplotypes have a role in mycophenolate mofetil gastrointestinal intolerance in pediatric heart transplant patients (PMID:20649757)
• Potential associations between the most frequent single nucleotide polymorphisms in both IMPDH genes and clinical outcome in renal transplant recipients. (PMID:20679962)
• resequenced IMPDH1 and IMPDH2 using DNA from 288 individuals from three ethnic groups and performed functional genomic studies of the sequence variants observed; identified 73 single nucleotide polymorphisms in IMPDH1, 59 novel (PMID:20718729)
• IMPDH1 mutation is associated with retinitis pigmentosa. (PMID:21791244)
• IMPDH has a function in the retina, apparently independent of its enzymatic activity, mediated by retina-specific variants. (PMID:22183375)
• p53 has a novel function in regulating purine biosynthesis, aided by miR-34a-dependent IMPDH repression. (PMID:22301190)
• A novel mutation, p.L270R in IMPDH1, was found to be retinitis pigmentosa-causing in one family. (PMID:23534816)
• Expression of IMPDH mRNA after mycophenolate administration in male volunteers. (PMID:25105143)
• In our cohort of >300 familial cases of autosomal-recessive retinitis pigmentosa, PKRP004 is the only family harboring a mutation in IMPDH1. (PMID:25439607)
• We have found that the rs2278294 G allele exerts statistically significant inhibition on post-kidney transplant body mass index gain (PMID:30056902)
• IMP dehydrogenase rod/ring structures in acral melanomas. (PMID:31883196)
• IMPDH1/YB-1 Positive Feedback Loop Assembles Cytoophidia and Represents a Therapeutic Target in Metastatic Tumors. (PMID:32209435)
• Disease Progression in Patients with Autosomal Dominant Retinitis Pigmentosa due to a Mutation in Inosine Monophosphate Dehydrogenase 1 (IMPDH1). (PMID:32821486)
• Inosine 5’-Monophosphate Dehydrogenase Cytoophidia Neighbor Insulin Granules in Pancreatic beta Cells. (PMID:34643616)
• IMPDH1 retinal variants control filament architecture to tune allosteric regulation. (PMID:35013599)
• Inosine monophosphate dehydrogenase type1 sustains tumor growth in hepatocellular carcinoma. (PMID:35403278)
• MYBL2 regulates de novo purine synthesis by transcriptionally activating IMPDH1 in hepatocellular carcinoma cells. (PMID:36494680)
• IMPDH1, a prognostic biomarker and immunotherapy target that correlates with tumor immune microenvironment in pan-cancer and hepatocellular carcinoma. (PMID:36618420)
• c-Myc-IMPDH1/2 axis promotes tumourigenesis by regulating GTP metabolic reprogramming. (PMID:36629054)
• IMPDH1-associated autosomal dominant retinitis pigmentosa: natural history of novel variant Lys314Gln and a comprehensive literature search. (PMID:37259572)
• Datasets-Based IMPDH1 Revisited: Heterozygous Missense Variants for Dominant Retinitis Pigmentosa While Truncation Variants Are Likely Non-Pathogenic. (PMID:38604988)
• The Impact of Terminal Peptide Extensions of Retinal Inosine 5 Monophosphate Dehydrogenase 1 Isoforms on their DNA-binding Activities. (PMID:38733555)

Cross-species orthologs

6 orthologs

Organism	Symbol	Gene ID
danio_rerio	impdh1b	ENSDARG00000029524
danio_rerio	impdh1a	ENSDARG00000042336
mus_musculus	Impdh1	ENSMUSG00000003500
rattus_norvegicus	Impdh1	ENSRNOG00000020032
drosophila_melanogaster	ras	FBGN0003204
caenorhabditis_elegans		WBGENE00020682

Paralogs (3): GMPR2 (ENSG00000100938), GMPR (ENSG00000137198), IMPDH2 (ENSG00000178035)

Protein

Protein identifiers

Inosine-5’-monophosphate dehydrogenase 1 — P20839 (reviewed: P20839)

Alternative names: IMPDH-I

All UniProt accessions (7): A0A3B3IRL5, C9J029, P20839, C9J381, C9K0R9, F8WDE9, H7C5T1

UniProt curated annotations — full annotation on UniProt →

Function. Catalyzes the conversion of inosine 5’-phosphate (IMP) to xanthosine 5’-phosphate (XMP), the first committed and rate-limiting step in the de novo synthesis of guanine nucleotides, and therefore plays an important role in the regulation of cell growth. Could also have a single-stranded nucleic acid-binding activity and could play a role in RNA and/or DNA metabolism. It may also have a role in the development of malignancy and the growth progression of some tumors.

Subunit / interactions. Homotetramer.

Subcellular location. Cytoplasm. Nucleus.

Tissue specificity. IMP type I is the main species in normal leukocytes and type II predominates over type I in the tumor.

Disease relevance. Retinitis pigmentosa 10 (RP10) [MIM:180105] A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. The disease is caused by variants affecting the gene represented in this entry. Leber congenital amaurosis 11 (LCA11) [MIM:613837] A severe dystrophy of the retina, typically becoming evident in the first years of life. Visual function is usually poor and often accompanied by nystagmus, sluggish or near-absent pupillary responses, photophobia, high hyperopia and keratoconus. The disease is caused by variants affecting the gene represented in this entry.

Activity regulation. Mycophenolic acid (MPA) is a non-competitive inhibitor that prevents formation of the closed enzyme conformation by binding to the same site as the amobile flap. In contrast, mizoribine monophosphate (MZP) is a competitive inhibitor that induces the closed conformation. MPA is a potent inhibitor of mammalian IMPDHs but a poor inhibitor of the bacterial enzymes. MZP is a more potent inhibitor of bacterial IMPDH. Subject to product inhibition by XMP and NADH. Also inhibited by ADP.

Induction. Constitutively expressed.

Pathway. Purine metabolism; XMP biosynthesis via de novo pathway; XMP from IMP: step 1/1.

Miscellaneous. Because IMPDH activity is tightly linked with cell proliferation, it has been recognized as a target for cancer and viral chemotherapy and as a target for immunosuppressive drugs. The activities of the antitumor drug tiazofurin, the antiviral drug ribavirin, and the immunosuppressive drugs mizoribine and mycophenolic acid (MPA) are attributed to the inhibition of IMPDH. In addition, bacterial and parasitic IMPDH’s differ significantly from mammalian enzymes, which makes it a suitable target for anti-infective drugs.

Similarity. Belongs to the IMPDH/GMPR family.

Isoforms (7)

UniProt ID	Names	Canonical?
P20839-1	1	yes
P20839-2	2
P20839-3	3
P20839-4	4
P20839-5	5
P20839-6	6
P20839-7	7

RefSeq proteins (8): NP_000874, NP_001096075, NP_001136045, NP_001136046, NP_001136047, NP_001136048, NP_001291450, NP_899066 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000644	CBS_dom	Domain
IPR001093	IMP_DH_GMPRt	Domain
IPR005990	IMP_DH	Family
IPR013785	Aldolase_TIM	Homologous_superfamily
IPR015875	IMP_DH/GMP_Rdtase_CS	Conserved_site

Pfam: PF00478, PF00571

Enzyme classification (BRENDA):

• EC 1.1.1.205 — IMP dehydrogenase (BRENDA: 70 organisms, 74 substrates, 895 inhibitors, 205 Km, 88 kcat entries)

Substrate kinetics (BRENDA)

12 substrates with measured Km, best-characterized 12. Km ranges are aggregated across organisms/conditions.

Substrate	Km (mM)	Measurements
NAD+	0.0016–3.2	87
IMP	0.0033–0.315	46
INOSINE 5’-PHOSPHATE	0.0017–31	34
THIAZOLE-4-CARBOXAMIDE ADENINE DINUCLEOTIDE	0.59–1.03	6
K+	2–17	4
INOSINE 5’-DIPHOSPHATE	0.0082–0.03	3
3-ACETYLPYRIDINE ADENINE DINUCLEOTIDE	0.19–0.22	2
5’-AMINO-5’-DEOXYINOSINE 5’-N-PHOSPHATE	0.038	1
5’-MERCAPTO-5’-DEOXYINOSINE 5’-S-PHOSPHATE	0.013	1
6-THIO-IMP	0.02	1
ACETYLPYRIDINE ADENINE DINUCLEOTIDE	0.19	1
INOSINE 5’-PHOSPHOROTHIOATE	0.21	1

Catalyzed reactions (Rhea), 1 shown:

• IMP + NAD(+) + H2O = XMP + NADH + H(+) (RHEA:11708)

UniProt features (102 total): strand 32, helix 23, binding site 13, sequence variant 9, splice variant 6, sequence conflict 5, turn 5, modified residue 3, domain 2, active site 2, initiator methionine 1, chain 1

Structure

Experimental structures (PDB)

18 structures.

PDB	Method	Resolution (Å)
8U8Y	ELECTRON MICROSCOPY	2.1
7RGL	ELECTRON MICROSCOPY	2.4
8U8O	ELECTRON MICROSCOPY	2.4
1JCN	X-RAY DIFFRACTION	2.5
7RER	ELECTRON MICROSCOPY	2.6
7RFE	ELECTRON MICROSCOPY	2.6
7RFG	ELECTRON MICROSCOPY	2.6
7RFI	ELECTRON MICROSCOPY	2.6
7RFF	ELECTRON MICROSCOPY	2.7
7RGM	ELECTRON MICROSCOPY	2.8
7RGD	ELECTRON MICROSCOPY	3
7RES	ELECTRON MICROSCOPY	3.05
8U7M	ELECTRON MICROSCOPY	3.1
8U7Q	ELECTRON MICROSCOPY	3.3
8U7V	ELECTRON MICROSCOPY	3.3
7RGI	ELECTRON MICROSCOPY	3.6
7RFH	ELECTRON MICROSCOPY	3.7
7RGQ	ELECTRON MICROSCOPY	3.9

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P20839-F1	92.71	0.79

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Catalytic / active sites (2): 331 (thioimidate intermediate); 429 (proton acceptor)

Ligand- & substrate-binding residues (13): 329; 331 (in other chain); 364–366; 387–388; 411–415; 441; 500; 501; 502; 274–276; 324–326; 326 (in other chain) …

Post-translational modifications (3): 160, 341, 355

Function

Pathways and Gene Ontology

Reactome pathways

14 pathways

ID	Pathway
R-HSA-6798695	Neutrophil degranulation
R-HSA-73817	Purine ribonucleoside monophosphate biosynthesis
R-HSA-9679191	Potential therapeutics for SARS
R-HSA-9748787	Azathioprine ADME
R-HSA-1430728	Metabolism
R-HSA-15869	Metabolism of nucleotides
R-HSA-1643685	Disease
R-HSA-168249	Innate Immune System
R-HSA-168256	Immune System
R-HSA-5663205	Infectious disease
R-HSA-8956320	Nucleotide biosynthesis
R-HSA-9679506	SARS-CoV Infections
R-HSA-9748784	Drug ADME
R-HSA-9824446	Viral Infection Pathways

MSigDB gene sets: 357 (showing top): TGGTGCT_MIR29A_MIR29B_MIR29C, RODRIGUES_THYROID_CARCINOMA_ANAPLASTIC_UP, REACTOME_INNATE_IMMUNE_SYSTEM, BENPORATH_ES_WITH_H3K27ME3, RODRIGUES_THYROID_CARCINOMA_POORLY_DIFFERENTIATED_UP, GOCC_SECRETORY_GRANULE, SHEPARD_CRASH_AND_BURN_MUTANT_UP, MORF_HDAC1, MITSIADES_RESPONSE_TO_APLIDIN_DN, GOBP_ORGANOPHOSPHATE_METABOLIC_PROCESS, GOBP_NUCLEOSIDE_PHOSPHATE_BIOSYNTHETIC_PROCESS, CAGCTG_AP4_Q5, GOBP_ORGANOPHOSPHATE_BIOSYNTHETIC_PROCESS, GOBP_CARBOHYDRATE_DERIVATIVE_METABOLIC_PROCESS, CEBPB_01

GO Biological Process (5): GMP biosynthetic process (GO:0006177), GTP biosynthetic process (GO:0006183), lymphocyte proliferation (GO:0046651), ‘de novo’ XMP biosynthetic process (GO:0097294), purine nucleotide biosynthetic process (GO:0006164)

GO Molecular Function (10): nucleotide binding (GO:0000166), nucleic acid binding (GO:0003676), DNA binding (GO:0003677), RNA binding (GO:0003723), IMP dehydrogenase activity (GO:0003938), identical protein binding (GO:0042802), metal ion binding (GO:0046872), catalytic activity (GO:0003824), protein binding (GO:0005515), oxidoreductase activity (GO:0016491)

GO Cellular Component (7): extracellular region (GO:0005576), nucleus (GO:0005634), cytoplasm (GO:0005737), cytosol (GO:0005829), secretory granule lumen (GO:0034774), azurophil granule lumen (GO:0035578), ficolin-1-rich granule lumen (GO:1904813)

Reactome top-level categories

Rollup of top-10 pathways:

Category	Pathways
Innate Immune System	1
Nucleotide biosynthesis	1
SARS-CoV Infections	1
Drug ADME	1
Metabolism	1
Immune System	1
Disease	1
Metabolism of nucleotides	1
Viral Infection Pathways	1
Infectious disease	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	3
purine ribonucleotide biosynthetic process	2
binding	2
nucleic acid binding	2
purine ribonucleoside monophosphate biosynthetic process	1
GMP metabolic process	1
purine ribonucleoside triphosphate biosynthetic process	1
GTP metabolic process	1
mononuclear cell proliferation	1
lymphocyte activation	1
XMP biosynthetic process	1
purine nucleotide metabolic process	1
nucleotide biosynthetic process	1
purine-containing compound biosynthetic process	1
nucleoside phosphate binding	1
heterocyclic compound binding	1
oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor	1
protein binding	1
cation binding	1
molecular_function	1
catalytic activity	1
intracellular membrane-bounded organelle	1
intracellular anatomical structure	1
cytoplasm	1
secretory granule	1
cytoplasmic vesicle lumen	1
vacuolar lumen	1
secretory granule lumen	1
azurophil granule	1
intracellular organelle lumen	1
ficolin-1-rich granule	1

Protein interactions and networks

STRING

2984 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
IMPDH1	GMPS	P49915	922
IMPDH1	RDH12	Q96NR8	890
IMPDH1	SPATA7	Q9P0W8	857
IMPDH1	TULP1	O00294	828
IMPDH1	CRX	O43186	826
IMPDH1	RD3	Q7Z3Z2	824
IMPDH1	AIPL1	Q9NZN9	822
IMPDH1	RPE65	Q16518	816
IMPDH1	RP9	Q8TA86	809
IMPDH1	LRAT	O95237	808
IMPDH1	PRPF31	Q8WWY3	806
IMPDH1	FSCN2	O14926	799
IMPDH1	PRPF8	Q6P2Q9	793
IMPDH1	LCA5	Q86VQ0	793
IMPDH1	PRPF3	O43395	790

IntAct

41 interactions, top by confidence:

A	B	Type	Score
SOST	KPNA4	psi-mi:“MI:0914”(association)	0.530
IMPDH1	BCAT2	psi-mi:“MI:0914”(association)	0.530
PODXL	HSPA12A	psi-mi:“MI:0914”(association)	0.530
IMPDH2	IMPDH1	psi-mi:“MI:0914”(association)	0.530
METTL22	KIN	psi-mi:“MI:0914”(association)	0.500
CDKN2A	IMPDH1	psi-mi:“MI:0915”(physical association)	0.400
IMPDH1	GMNN	psi-mi:“MI:0915”(physical association)	0.370
IMPDH1	HTRA1	psi-mi:“MI:0915”(physical association)	0.370
Rpl35	RPS6	psi-mi:“MI:0914”(association)	0.350
MYO1C	PLEKHG3	psi-mi:“MI:0914”(association)	0.350
SEC16A	NCOR2	psi-mi:“MI:0914”(association)	0.350
Lgals3bp	CS	psi-mi:“MI:0914”(association)	0.350
Junb	RGPD3	psi-mi:“MI:0914”(association)	0.350
XRCC3	DERL1	psi-mi:“MI:0914”(association)	0.350
EMC2	TBL2	psi-mi:“MI:0914”(association)	0.350
MMGT1	DERL1	psi-mi:“MI:0914”(association)	0.350
ESR1	ESYT2	psi-mi:“MI:0914”(association)	0.350
BMI1	HMGB1P1	psi-mi:“MI:0914”(association)	0.350
LIMK1	ILVBL	psi-mi:“MI:0914”(association)	0.350
rep	CSDE1	psi-mi:“MI:0914”(association)	0.350
rep	AP3B1	psi-mi:“MI:0914”(association)	0.350
ITM2B	ILVBL	psi-mi:“MI:0914”(association)	0.350
PARP1	KPNA3	psi-mi:“MI:0914”(association)	0.350
ATG16L1	ESYT2	psi-mi:“MI:0914”(association)	0.350
C1QTNF8	VWA8	psi-mi:“MI:0914”(association)	0.350
RUNX2	IGLL5	psi-mi:“MI:0914”(association)	0.350
KLHL2	DCTN6	psi-mi:“MI:0914”(association)	0.350
LRRC8E	TBC1D4	psi-mi:“MI:0914”(association)	0.350

BioGRID (202): IMPDH1 (Affinity Capture-MS), IMPDH1 (Affinity Capture-MS), IMPDH1 (Affinity Capture-MS), IMPDH1 (Affinity Capture-MS), IMPDH1 (Affinity Capture-MS), IMPDH1 (Affinity Capture-MS), IMPDH1 (Affinity Capture-MS), IMPDH1 (Affinity Capture-MS), IMPDH1 (Affinity Capture-MS), IMPDH1 (Affinity Capture-MS), CTPS1 (Co-fractionation), DDX3X (Co-fractionation), DDX5 (Co-fractionation), EDF1 (Co-fractionation), IMPDH1 (Co-fractionation)

ESM2 similar proteins: A0A0B5L585, A0JNA3, B0UXP9, D3ZLZ7, E9BDA8, E9PU28, F1DBB2, F6S675, F7CYY5, O00086, O14344, O33655, O93937, P07259, P07756, P12268, P12269, P20839, P21620, P24547, P31327, P38697, P39567, P47996, P50094, P50095, P50096, P50097, P50098, Q07152, Q12658, Q3SWY3, Q49729, Q4QEB3, Q4VRV8, Q4WHZ9, Q54P92, Q54QQ0, Q59Q46, Q5KP44

Diamond homologs: A0A0B5L585, A0JNA3, A7Z8C3, A9A5Y7, B0UXP9, B1L5U5, B9DP67, C0MAM1, D3ZLZ7, E9BDA8, E9PU28, F1DBB2, F6S675, F7CYY5, O00086, O14344, O42831, O50316, O58045, O67820, P0ADG7, P0ADG8, P0ADG9, P0C0H6, P0C0H7, P0DB88, P0DB89, P12268, P12269, P20839, P21620, P21879, P24547, P31002, P38697, P39567, P42851, P44334, P47996, P49058

SIGNOR signaling

3 interactions.

A	Effect	B	Mechanism
IMPDH1	“down-regulates quantity”	IMP	“chemical modification”
IMPDH1	“up-regulates quantity”	“5’-xanthylic acid”	“chemical modification”
MYC	“up-regulates quantity by expression”	IMPDH1	“transcriptional regulation”

Disease & clinical

Clinical variants and AI predictions

ClinVar

701 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	19
Likely pathogenic	16
Uncertain significance	326
Likely benign	243
Benign	27

Top pathogenic / likely-pathogenic (30)

Variant ID	HGVS	Classification
1387645	NM_000883.4(IMPDH1):c.1686_1689del (p.Val563fs)	Pathogenic
1442501	NM_000883.4(IMPDH1):c.1048C>T (p.Gln350Ter)	Pathogenic
1457411	NM_000883.4(IMPDH1):c.849T>A (p.Asn283Lys)	Pathogenic
14838	NM_000883.4(IMPDH1):c.849T>G (p.Asn283Lys)	Pathogenic
1486862	NM_000883.4(IMPDH1):c.1605del (p.Gly536fs)	Pathogenic
1810221	NM_000883.4(IMPDH1):c.942G>C (p.Lys314Asn)	Pathogenic
1900327	NM_000883.4(IMPDH1):c.1540C>T (p.Arg514Ter)	Pathogenic
2023892	NM_000883.4(IMPDH1):c.1067_1068del (p.Ile356fs)	Pathogenic
254167	NM_000883.4(IMPDH1):c.984G>C (p.Gln328His)	Pathogenic
2810617	NM_000883.4(IMPDH1):c.859C>T (p.Gln287Ter)	Pathogenic
2848195	NM_000883.4(IMPDH1):c.72_73insAACCCGG (p.Gln25fs)	Pathogenic
2900294	NM_000883.4(IMPDH1):c.66_72del (p.Ala23fs)	Pathogenic
3004430	NM_000883.4(IMPDH1):c.736C>T (p.Arg246Ter)	Pathogenic
3245856	NC_000007.13:g.(?128045801)(128049955_?)del	Pathogenic
3642639	NM_000883.4(IMPDH1):c.1094C>A (p.Ser365Ter)	Pathogenic
3702726	NM_000883.4(IMPDH1):c.1458_1461dup (p.Ser488fs)	Pathogenic
4728914	NM_000883.4(IMPDH1):c.1464dup (p.Asp489fs)	Pathogenic
860895	NM_000883.4(IMPDH1):c.946C>T (p.Arg316Ter)	Pathogenic
861483	NM_000883.4(IMPDH1):c.932A>G (p.Asp311Gly)	Pathogenic
14836	NM_000883.4(IMPDH1):c.926G>C (p.Arg309Pro)	Likely pathogenic
1911547	NM_000883.4(IMPDH1):c.146+2T>G	Likely pathogenic
2093296	NM_000883.4(IMPDH1):c.1262-1G>T	Likely pathogenic
2628051	NM_000883.4(IMPDH1):c.1417T>C (p.Ser473Pro)	Likely pathogenic
2920624	NM_000883.4(IMPDH1):c.256A>G (p.Met86Val)	Likely pathogenic
3027885	NM_000883.4(IMPDH1):c.1299C>A (p.Tyr433Ter)	Likely pathogenic
3027886	NM_000883.4(IMPDH1):c.1296_1297del (p.Tyr433fs)	Likely pathogenic
3027897	NM_000883.4(IMPDH1):c.809T>G (p.Leu270Arg)	Likely pathogenic
3236199	NM_000883.4(IMPDH1):c.590_591inv (p.Gln197Pro)	Likely pathogenic
3249755	NM_000883.4(IMPDH1):c.936GAA[4] (p.Lys314_Asn315insLys)	Likely pathogenic
3708397	NM_000883.4(IMPDH1):c.1405+1G>A	Likely pathogenic

SpliceAI

2371 predictions. Top by Δscore:

Variant	Effect	Δscore
7:128394272:ACTT:A	donor_loss	1.0000
7:128394275:TA:T	donor_loss	1.0000
7:128394276:A:AC	donor_gain	1.0000
7:128394276:ACGA:A	donor_loss	1.0000
7:128394277:C:CA	donor_gain	1.0000
7:128394277:CG:C	donor_gain	1.0000
7:128394277:CGA:C	donor_gain	1.0000
7:128394357:TGGAC:T	acceptor_gain	1.0000
7:128394358:GGAC:G	acceptor_gain	1.0000
7:128394362:C:CC	acceptor_gain	1.0000
7:128394362:CT:C	acceptor_loss	1.0000
7:128394452:TCACC:T	donor_loss	1.0000
7:128394453:CAC:C	donor_loss	1.0000
7:128394454:A:AC	donor_gain	1.0000
7:128394454:A:T	donor_loss	1.0000
7:128394455:C:A	donor_loss	1.0000
7:128394455:C:CC	donor_gain	1.0000
7:128394596:CTCG:C	acceptor_gain	1.0000
7:128394598:CG:C	acceptor_gain	1.0000
7:128394600:C:CC	acceptor_gain	1.0000
7:128395029:CATCA:C	acceptor_gain	1.0000
7:128395031:TCA:T	acceptor_gain	1.0000
7:128395032:CAC:C	acceptor_gain	1.0000
7:128395034:C:CC	acceptor_gain	1.0000
7:128395125:CCTCA:C	donor_loss	1.0000
7:128395126:CTCA:C	donor_loss	1.0000
7:128395127:TCACC:T	donor_loss	1.0000
7:128395128:CACC:C	donor_loss	1.0000
7:128395129:A:T	donor_loss	1.0000
7:128395270:CATCA:C	acceptor_gain	1.0000

AlphaMissense

3877 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1000250501 (7:128405425 G>A,C), RS1000281723 (7:128405208 G>A,C), RS1000437092 (7:128395490 A>C,G), RS1000573868 (7:128401367 C>T), RS1000620411 (7:128407288 G>A), RS1000814884 (7:128399549 T>C), RS1000854786 (7:128394911 T>C), RS1001101517 (7:128407280 C>A), RS1001137579 (7:128396553 G>A,T), RS1001188422 (7:128396221 G>A), RS1001728551 (7:128408912 C>T), RS1001800608 (7:128408698 G>A), RS1001951590 (7:128392485 C>A,T), RS1001985521 (7:128411133 A>C), RS1002278117 (7:128408987 C>T)

Disease associations

OMIM: gene MIM:146690 | disease phenotypes: MIM:180105, MIM:613837, MIM:268000, MIM:204000

GenCC curated gene-disease

Disease	Classification	Inheritance
retinitis pigmentosa 10	Definitive	Autosomal dominant
Leber congenital amaurosis 11	Definitive	Autosomal dominant
IMPDH1-related retinopathy	Strong	Autosomal dominant
Leber congenital amaurosis	Supportive	Autosomal dominant
retinitis pigmentosa	Supportive	Autosomal dominant

ClinGen Gene-Disease Validity (1)

Expert-panel classifications — Definitive > Strong > Moderate > Limited > Disputed > Refuted.

Disease	Classification	Inheritance
IMPDH1-related retinopathy	Definitive	AD

Mondo (7): inherited retinal dystrophy (MONDO:0019118), retinitis pigmentosa 10 (MONDO:0008379), Leber congenital amaurosis 11 (MONDO:0013454), retinal disorder (MONDO:0005283), retinitis pigmentosa (MONDO:0019200), Leber congenital amaurosis (MONDO:0018998), IMPDH1-related retinopathy (MONDO:1040051)

Orphanet (3): OBSOLETE: Inherited retinal disorder (Orphanet:71862), Leber congenital amaurosis (Orphanet:65), Retinitis pigmentosa (Orphanet:791)

HPO phenotypes

56 total (30 of 56 shown, HPO-id order):

HPO	Term
HP:0000006	Autosomal dominant inheritance
HP:0000365	Hearing impairment
HP:0000405	Conductive hearing impairment
HP:0000407	Sensorineural hearing impairment
HP:0000501	Glaucoma
HP:0000505	Visual impairment
HP:0000510	Rod-cone dystrophy
HP:0000512	Abnormal electroretinogram
HP:0000518	Cataract
HP:0000540	Hypermetropia
HP:0000543	Optic disc pallor
HP:0000546	Retinal degeneration
HP:0000551	Color vision defect
HP:0000563	Keratoconus
HP:0000602	Ophthalmoplegia
HP:0000613	Photophobia
HP:0000618	Blindness
HP:0000639	Nystagmus
HP:0000648	Optic atrophy
HP:0000662	Nyctalopia
HP:0000729	Autistic behavior
HP:0000842	Hyperinsulinemia
HP:0001105	Retinal atrophy
HP:0001133	Constriction of peripheral visual field
HP:0001141	Severely reduced visual acuity
HP:0001249	Intellectual disability
HP:0001250	Seizure
HP:0001252	Hypotonia
HP:0001263	Global developmental delay
HP:0001270	Motor delay

GWAS associations

1 associations (top):

Study	Trait	p-value
GCST010174_5	Pelvic organ prolapse	4.000000e-12

MeSH disease descriptors (6)

Descriptor	Name	Tree numbers
D057130	Leber Congenital Amaurosis	C11.270.516; C11.768.364
D012164	Retinal Diseases	C11.768
D058499	Retinal Dystrophies	C11.768.585.658
D012174	Retinitis Pigmentosa	C11.270.684; C11.768.585.658.500; C16.320.290.684
C564140	Leber Congenital Amaurosis 11 (supp.)
C566715	Retinitis Pigmentosa 10 (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (2): CHEMBL1822 (SINGLE PROTEIN), CHEMBL2111369 (PROTEIN FAMILY)

Molecules with ChEMBL bioactivity

2 molecules (phase ≥1), by development phase (incl. off-target/promiscuous compounds). Patent mentions across the top 20 by phase: 88,232 (via chembl_molecule»patent_compound — counts attach to the compound, not the gene–compound relationship, so off-target/promiscuous molecules can dominate).

Molecule	Name	Phase	Patents
CHEMBL866	MYCOPHENOLIC ACID	4	87,659
CHEMBL304087	MERIMEPODIB	2	573

PharmGKB: 1 entry (VIP=true, CPIC=false)

PharmGKB clinical annotations

4 annotations.

Variant	Type	Level	Drugs	Phenotypes
rs2228075	Toxicity	3	mycophenolate mofetil	Organ Transplantation
rs2278293	Toxicity	4	mycophenolate mofetil
rs2278294	Efficacy	3	mycophenolate mofetil	Kidney Transplantation;Organ Transplantation
rs2278294	Toxicity	3	mycophenolate mofetil	Leukopenia

PharmGKB variants

4 variants.

Variant	Genes	Level	Score	#Clin annots	Drugs
rs2228075	IMPDH1	3	2.25	1	mycophenolate mofetil
rs2278293	IMPDH1	4	-1.50	1	mycophenolate mofetil
rs2278294	IMPDH1	3	2.25	2	mycophenolate mofetil
rs4731448	IMPDH1		0.00	0

GtoPdb / IUPHAR curated pharmacology

(IUPHAR/BPS Guide to Pharmacology — expert-curated)

Target class: enzyme — 1.-.-.- Oxidoreductases

Most potent curated ligand interactions (2 total), top 2:

Ligand	Action	Affinity	Parameter
mycophenolic acid	Inhibition	7.7	pIC50
ribavirin	Inhibition	6.0	pIC50

Binding affinities (BindingDB)

13 measured of 18 human assays (18 total across all organisms); most potent 13 below. Values come from heterogeneous assays and are not directly comparable.

Ligand	Measure	Value
({[(2R,3S,4R,5R)-5-(6-amino-2-ethyl-9H-purin-9-yl)-3,4-dihydroxyoxolan-2-yl]methoxy}(hydroxy)phosphoryl)oxyphosphinic acid	KI	1 nM
{[(2R,3S,4R,5R)-5-(4-carbamoyl-1,3-thiazol-2-yl)-3,4-dihydroxyoxolan-2-yl]methoxy}[({[(2R,3S,4R,5R)-5-(2,6-diamino-9H-purin-9-yl)-3,4-dihydroxyoxolan-2-yl]methoxy}(hydroxy)phosphoryl)oxy]phosphinic acid	KI	7 nM
({[(2R,3S,4R,5R)-5-(6-amino-2-ethynyl-9H-purin-9-yl)-3,4-dihydroxyoxolan-2-yl]methoxy}(hydroxy)phosphoryl)oxyphosphinic acid	KI	10 nM
[({[(2R,3S,4R,5R)-5-(6-amino-2-ethyl-9H-purin-9-yl)-3,4-dihydroxyoxolan-2-yl]methoxy}(hydroxy)phosphoryl)methyl][2-(4-hydroxy-6-methoxy-7-methyl-3-oxo-1,3-dihydro-2-benzofuran-5-yl)ethoxy]phosphinic acid	KI	16 nM
({[(2R,3S,4R,5R)-5-(6-amino-2-iodo-9H-purin-9-yl)-3,4-dihydroxyoxolan-2-yl]methoxy}(hydroxy)phosphoryl)oxyphosphinic acid	KI	19 nM
({[(2R,3S,4R,5R)-5-(6-amino-2-phenyl-9H-purin-9-yl)-3,4-dihydroxyoxolan-2-yl]methoxy}(hydroxy)phosphoryl)oxyphosphinic acid	KI	20 nM
({[(2R,3S,4R,5R)-5-[6-amino-2-(phenylamino)-9H-purin-9-yl]-3,4-dihydroxyoxolan-2-yl]methoxy}(hydroxy)phosphoryl)oxyphosphinic acid	KI	45 nM
({[(2R,3S,4R,5R)-5-[6-amino-2-(benzylamino)-9H-purin-9-yl]-3,4-dihydroxyoxolan-2-yl]methoxy}(hydroxy)phosphoryl)oxyphosphinic acid	KI	45 nM
[({[(2R,3S,4R,5R)-5-(6-amino-2-phenyl-9H-purin-9-yl)-3,4-dihydroxyoxolan-2-yl]methoxy}(hydroxy)phosphoryl)methyl][2-(4-hydroxy-6-methoxy-7-methyl-3-oxo-1,3-dihydro-2-benzofuran-5-yl)ethoxy]phosphinic acid	KI	66 nM
({[(2R,3S,4R,5R)-5-{6-amino-2-[(2-phenylethyl)amino]-9H-purin-9-yl}-3,4-dihydroxyoxolan-2-yl]methoxy}(hydroxy)phosphoryl)oxyphosphinic acid	KI	73 nM
({[(2R,3S,4R,5R)-5-(6-amino-2-ethenyl-9H-purin-9-yl)-3,4-dihydroxyoxolan-2-yl]methoxy}(hydroxy)phosphoryl)oxyphosphinic acid	KI	96 nM
NSC 358285	KI	110 nM
[({[(2R,3S,4R,5R)-5-(6-amino-9H-purin-9-yl)-3,4-dihydroxyoxolan-2-yl]methoxy}(hydroxy)phosphoryl)methyl][2-(4-hydroxy-6-methoxy-7-methyl-3-oxo-1,3-dihydro-2-benzofuran-5-yl)ethoxy]phosphinic acid	KI	330 nM

ChEMBL bioactivities

184 potent at pChembl≥5 of 226 total, top 50 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).

pChembl	Type	Value	Unit	Molecule
9.22	Ki	0.6	nM	CHEMBL3098189
9.00	Ki	1	nM	CHEMBL392203
9.00	Ki	1	nM	CHEMBL1683637
8.52	Ki	3	nM	CHEMBL3098184
8.30	Ki	5	nM	CHEMBL1683640
8.25	Ki	5.6	nM	CHEMBL3098187
8.15	Ki	7	nM	CHEMBL409560
8.15	IC50	7	nM	MERIMEPODIB
8.15	IC50	7	nM	CHEMBL101754
8.00	Ki	10	nM	CHEMBL235533
7.89	Ki	13	nM	CHEMBL3098188
7.89	Ki	13	nM	CHEMBL1683638
7.80	Ki	16	nM	CHEMBL392204
7.80	Ki	16	nM	CHEMBL1683639
7.72	Ki	19	nM	CHEMBL3098183
7.72	Ki	19	nM	CHEMBL394277
7.72	IC50	19	nM	MYCOPHENOLIC ACID
7.70	Ki	20	nM	CHEMBL384114
7.70	Ki	20	nM	CHEMBL264107
7.70	Ki	20	nM	CHEMBL392204
7.70	IC50	20	nM	CHEMBL101365
7.70	Ki	20	nM	CHEMBL1683743
7.70	IC50	20	nM	MYCOPHENOLIC ACID
7.50	Ki	32	nM	CHEMBL3098168
7.50	IC50	32	nM	MYCOPHENOLIC ACID
7.48	Ki	33	nM	CHEMBL451855
7.48	Ki	33	nM	MYCOPHENOLIC ACID
7.43	IC50	37	nM	CHEMBL208921
7.42	Ki	38	nM	CHEMBL3098163
7.42	IC50	38	nM	CHEMBL209069
7.41	Ki	39	nM	CHEMBL3098179
7.40	Ki	40	nM	MYCOPHENOLIC ACID
7.40	IC50	40	nM	CHEMBL25138
7.35	Ki	45	nM	CHEMBL265870
7.35	Ki	45	nM	CHEMBL441190
7.34	IC50	46	nM	CHEMBL152988
7.26	IC50	55	nM	CHEMBL65013
7.26	IC50	55	nM	CHEMBL347721
7.26	IC50	55	nM	MYCOPHENOLIC ACID
7.25	Ki	56	nM	CHEMBL3098169
7.25	Ki	56	nM	CHEMBL3098165
7.21	Ki	62	nM	CHEMBL451855
7.20	Ki	63	nM	CHEMBL3098190
7.18	Ki	66	nM	CHEMBL410745
7.16	Ki	70	nM	CHEMBL3098192
7.16	Ki	70	nM	MYCOPHENOLIC HYDROXAMIC ACID
7.16	Ki	70	nM	CHEMBL410745
7.16	Ki	70	nM	CHEMBL1170851
7.16	Ki	70	nM	CHEMBL1683754
7.15	IC50	71	nM	CHEMBL428633

PubChem BioAssay actives

197 with measured affinity, of 304 total; 50 most potent distinct compounds. Largely complementary to BindingDB; screening values are coarse (µM, 4 dp), so sub-nM hits tie at the floor.

Compound	Assay	Type	Value	Unit
[(2R,3S,4R,5R)-5-(6-amino-2-pyridin-4-ylpurin-9-yl)-3,4-dihydroxyoxolan-2-yl]methoxy-[[hydroxy-[2-(4-hydroxy-6-methoxy-7-methyl-3-oxo-1H-2-benzofuran-5-yl)ethoxy]phosphoryl]methyl]phosphinic acid	1060470: Inhibition of IMPDH1 (unknown origin)	ki	0.0006	uM
[[(2R,3S,4R,5R)-5-(6-amino-2-ethylpurin-9-yl)-3,4-dihydroxyoxolan-2-yl]methoxy-hydroxyphosphoryl] [(2R,3S,4R,5R)-5-(4-carbamoyl-1,3-thiazol-2-yl)-3,4-dihydroxyoxolan-2-yl]methyl hydrogen phosphate	1797840: IMPDH Type 1 Enzyme Assay from Article 10.1021/jm070568j: “Probing Binding Requirements of Type I and Type II Isoforms of Inosine Monophosphate Dehydrogenase with Adenine-Modified Nicotinamide Adenine Dinucleotide Analogues.”	ki	0.0010	uM
[[(2S,3R,4S,5S)-5-(6-amino-2-ethylpurin-9-yl)-3,4-dihydroxyoxolan-2-yl]methoxy-hydroxyphosphoryl] [(2R,3S,4R,5R)-5-(4-carbamoyl-1,3-thiazol-2-yl)-3,4-dihydroxyoxolan-2-yl]methyl hydrogen phosphate	580128: Inhibition of human IMPDH1 by Spectrophotometry	ki	0.0010	uM
(E)-N-[(2R)-1-[[(2R,3S,4R,5R)-5-(6-aminopurin-9-yl)-3,4-dihydroxyoxolan-2-yl]methylamino]-3-methyl-1-oxobutan-2-yl]-6-(4-hydroxy-6-methoxy-7-methyl-3-oxo-1H-2-benzofuran-5-yl)-4-methylhex-4-enamide	1060470: Inhibition of IMPDH1 (unknown origin)	ki	0.0030	uM
[(2S,3R,4S,5S)-5-(6-amino-2-ethylpurin-9-yl)-3,4-dihydroxyoxolan-2-yl]methoxy-[difluoro-[hydroxy-[2-(4-hydroxy-6-methoxy-7-methyl-3-oxo-1H-2-benzofuran-5-yl)ethoxy]phosphoryl]methyl]phosphinic acid	580128: Inhibition of human IMPDH1 by Spectrophotometry	ki	0.0050	uM
[(2R,3S,4R,5R)-5-(6-amino-2-ethylpurin-9-yl)-3,4-dihydroxyoxolan-2-yl]methoxy-[difluoro-[hydroxy-[2-(4-hydroxy-6-methoxy-7-methyl-3-oxo-1H-2-benzofuran-5-yl)ethoxy]phosphoryl]methyl]phosphinic acid	1060470: Inhibition of IMPDH1 (unknown origin)	ki	0.0056	uM
[(3S)-oxolan-3-yl] N-[[3-[[3-methoxy-4-(1,3-oxazol-5-yl)phenyl]carbamoylamino]phenyl]methyl]carbamate	93053: Inhibition of inositol-5-monophosphate dehydrogenase (IMPDH); range 7-8 nM	ic50	0.0070	uM
[[(2R,3S,4R,5R)-5-(4-carbamoyl-1,3-thiazol-2-yl)-3,4-dihydroxyoxolan-2-yl]methoxy-hydroxyphosphoryl] [(2R,3S,4R,5R)-5-(2,6-diaminopurin-9-yl)-3,4-dihydroxyoxolan-2-yl]methyl hydrogen phosphate	1797840: IMPDH Type 1 Enzyme Assay from Article 10.1021/jm070568j: “Probing Binding Requirements of Type I and Type II Isoforms of Inosine Monophosphate Dehydrogenase with Adenine-Modified Nicotinamide Adenine Dinucleotide Analogues.”	ki	0.0070	uM
(2S)-2-[(2E)-2-[2-(4-amino-6-methoxy-7-methyl-3-oxo-1H-2-benzofuran-5-yl)ethylidene]cyclopentyl]propanoic acid	93053: Inhibition of inositol-5-monophosphate dehydrogenase (IMPDH); range 7-8 nM	ic50	0.0070	uM
[[(2R,3S,4R,5R)-5-(6-amino-2-ethynylpurin-9-yl)-3,4-dihydroxyoxolan-2-yl]methoxy-hydroxyphosphoryl] [(2R,3S,4R,5R)-5-(4-carbamoyl-1,3-thiazol-2-yl)-3,4-dihydroxyoxolan-2-yl]methyl hydrogen phosphate	1797840: IMPDH Type 1 Enzyme Assay from Article 10.1021/jm070568j: “Probing Binding Requirements of Type I and Type II Isoforms of Inosine Monophosphate Dehydrogenase with Adenine-Modified Nicotinamide Adenine Dinucleotide Analogues.”	ki	0.0100	uM
[(2S,3R,4S,5S)-5-(6-amino-2-ethylpurin-9-yl)-3,4-dihydroxyoxolan-2-yl]methoxy-[[[(2R,3S,4R,5R)-5-(4-carbamoyl-1,3-thiazol-2-yl)-3,4-dihydroxyoxolan-2-yl]methoxy-hydroxyphosphoryl]-difluoromethyl]phosphinic acid	580128: Inhibition of human IMPDH1 by Spectrophotometry	ki	0.0130	uM
[(2R,3S,4R,5R)-5-[6-amino-2-(trifluoromethyl)purin-9-yl]-3,4-dihydroxyoxolan-2-yl]methoxy-[[hydroxy-[2-(4-hydroxy-6-methoxy-7-methyl-3-oxo-1H-2-benzofuran-5-yl)ethoxy]phosphoryl]methyl]phosphinic acid	1060470: Inhibition of IMPDH1 (unknown origin)	ki	0.0130	uM
[(2R,3S,4R,5R)-5-(6-amino-2-ethylpurin-9-yl)-3,4-dihydroxyoxolan-2-yl]methoxy-[[hydroxy-[2-(4-hydroxy-6-methoxy-7-methyl-3-oxo-1H-2-benzofuran-5-yl)ethoxy]phosphoryl]methyl]phosphinic acid	1060470: Inhibition of IMPDH1 (unknown origin)	ki	0.0160	uM
[(2S,3R,4S,5S)-5-(6-amino-2-ethylpurin-9-yl)-3,4-dihydroxyoxolan-2-yl]methoxy-[[hydroxy-[2-(4-hydroxy-6-methoxy-7-methyl-3-oxo-1H-2-benzofuran-5-yl)ethoxy]phosphoryl]methyl]phosphinic acid	580128: Inhibition of human IMPDH1 by Spectrophotometry	ki	0.0160	uM
[[(2R,3S,4R,5R)-5-(6-amino-2-iodopurin-9-yl)-3,4-dihydroxyoxolan-2-yl]methoxy-hydroxyphosphoryl] [(2R,3S,4R,5R)-5-(4-carbamoyl-1,3-thiazol-2-yl)-3,4-dihydroxyoxolan-2-yl]methyl hydrogen phosphate	1797840: IMPDH Type 1 Enzyme Assay from Article 10.1021/jm070568j: “Probing Binding Requirements of Type I and Type II Isoforms of Inosine Monophosphate Dehydrogenase with Adenine-Modified Nicotinamide Adenine Dinucleotide Analogues.”	ki	0.0190	uM
Mycophenolic Acid	538353: Inhibition of human IMPDH1 expressed in Escherichia coli strain BL21(DE3) after 60 mins	ic50	0.0190	uM
(E)-N-[(2S)-1-[[(2R,3S,4R,5R)-5-(6-aminopurin-9-yl)-3,4-dihydroxyoxolan-2-yl]methylamino]-3-methyl-1-oxobutan-2-yl]-6-(4-hydroxy-6-methoxy-7-methyl-3-oxo-1H-2-benzofuran-5-yl)-4-methylhex-4-enamide	1060470: Inhibition of IMPDH1 (unknown origin)	ki	0.0190	uM
(E)-6-(4-hydroxy-6-methoxy-7-methyl-3-oxo-1H-2-benzofuran-5-yl)hex-4-enoic acid	93052: Inhibition of inositol-5-monophosphate dehydrogenase (IMPDH)	ic50	0.0200	uM
[(2S,3R,4S,5S)-5-(6-aminopurin-9-yl)-3,4-dihydroxyoxolan-2-yl]methoxy-[[hydroxy-[2-(4-hydroxy-6-methoxy-7-methyl-3-oxo-1H-2-benzofuran-5-yl)ethoxy]phosphoryl]oxymethyl]phosphinic acid	580128: Inhibition of human IMPDH1 by Spectrophotometry	ki	0.0200	uM
[[(2R,3S,4R,5R)-5-(6-amino-2-phenylpurin-9-yl)-3,4-dihydroxyoxolan-2-yl]methoxy-hydroxyphosphoryl] [(2R,3S,4R,5R)-5-(4-carbamoyl-1,3-thiazol-2-yl)-3,4-dihydroxyoxolan-2-yl]methyl hydrogen phosphate	1797840: IMPDH Type 1 Enzyme Assay from Article 10.1021/jm070568j: “Probing Binding Requirements of Type I and Type II Isoforms of Inosine Monophosphate Dehydrogenase with Adenine-Modified Nicotinamide Adenine Dinucleotide Analogues.”	ki	0.0200	uM
[(3R,4S)-5-(6-aminopurin-9-yl)-3,4-dihydroxyoxolan-2-yl]methoxy-[[hydroxy-[2-(4-hydroxy-6-methoxy-7-methyl-3-oxo-1H-2-benzofuran-5-yl)ethoxy]phosphoryl]oxymethyl]phosphinic acid	268954: Inhibition of human IMPDH1	ki	0.0200	uM
(2R)-2-[[(E)-6-(4-hydroxy-6-methoxy-7-methyl-3-oxo-1H-2-benzofuran-5-yl)-4-methylhex-4-enoyl]amino]-3-(1H-indol-3-yl)propanoic acid	1060470: Inhibition of IMPDH1 (unknown origin)	ki	0.0320	uM
[[(2R,3S,4R,5R)-5-(6-aminopurin-9-yl)-3,4-dihydroxyoxolan-2-yl]methoxy-hydroxyphosphoryl] [(2R,3S,4R,5R)-5-(4-carbamoyl-1,3-selenazol-2-yl)-3,4-dihydroxyoxolan-2-yl]methyl hydrogen phosphate	92609: The compound was tested for the inhibition towards IMP(Inosine 5’-monophosphate) substrate of Inosine-5’-monophosphate dehydrogenase 1	ki	0.0330	uM
2-[[(E)-4-(6-ethyl-4-hydroxy-7-methyl-3-oxo-1H-2-benzofuran-5-yl)-2-methylbut-2-enyl]amino]ethylphosphonic acid	267725: Inhibition of human IMPDH1	ic50	0.0370	uM
(E)-N-[(2R)-1-[[(2R,3S,4R,5R)-5-(6-aminopurin-9-yl)-3,4-dihydroxyoxolan-2-yl]methylamino]-1-oxo-3-phenylpropan-2-yl]-6-(4-hydroxy-6-methoxy-7-methyl-3-oxo-1H-2-benzofuran-5-yl)-4-methylhex-4-enamide	1060470: Inhibition of IMPDH1 (unknown origin)	ki	0.0380	uM
[(E)-4-(6-ethyl-4-hydroxy-7-methyl-3-oxo-1H-2-benzofuran-5-yl)-2-methylbut-2-enoxy]methylphosphonic acid	267725: Inhibition of human IMPDH1	ic50	0.0380	uM
[(2R,3S,4R,5R)-5-(6-amino-8-bromopurin-9-yl)-3,4-dihydroxyoxolan-2-yl]methoxy-[[hydroxy-[2-(4-hydroxy-6-methoxy-7-methyl-3-oxo-1H-2-benzofuran-5-yl)ethoxy]phosphoryl]methyl]phosphinic acid	1060470: Inhibition of IMPDH1 (unknown origin)	ki	0.0390	uM
N’-tert-butyl-N-[3-methoxy-4-(1,3-oxazol-5-yl)phenyl]oxamide	91401: Inhibitory activity against (IMPDH) inosine 5’-monophosphate dehydrogenase	ic50	0.0400	uM
[[(2R,3S,4R,5R)-5-(6-amino-2-anilinopurin-9-yl)-3,4-dihydroxyoxolan-2-yl]methoxy-hydroxyphosphoryl] [(2R,3S,4R,5R)-5-(4-carbamoyl-1,3-thiazol-2-yl)-3,4-dihydroxyoxolan-2-yl]methyl hydrogen phosphate	1797840: IMPDH Type 1 Enzyme Assay from Article 10.1021/jm070568j: “Probing Binding Requirements of Type I and Type II Isoforms of Inosine Monophosphate Dehydrogenase with Adenine-Modified Nicotinamide Adenine Dinucleotide Analogues.”	ki	0.0450	uM
[[(2R,3S,4R,5R)-5-[6-amino-2-(benzylamino)purin-9-yl]-3,4-dihydroxyoxolan-2-yl]methoxy-hydroxyphosphoryl] [(2R,3S,4R,5R)-5-(4-carbamoyl-1,3-thiazol-2-yl)-3,4-dihydroxyoxolan-2-yl]methyl hydrogen phosphate	1797840: IMPDH Type 1 Enzyme Assay from Article 10.1021/jm070568j: “Probing Binding Requirements of Type I and Type II Isoforms of Inosine Monophosphate Dehydrogenase with Adenine-Modified Nicotinamide Adenine Dinucleotide Analogues.”	ki	0.0450	uM
7-methoxy-2-(4-methylphenyl)-6-(1,3-oxazol-5-yl)-1H-quinolin-4-one	92606: Inhibitory activity against inosine monophosphate dehydrogenase IMPDH type I	ic50	0.0460	uM
1-[3-methoxy-4-(1,3-oxazol-5-yl)phenyl]-3-(3-methylphenyl)urea	92606: Inhibitory activity against inosine monophosphate dehydrogenase IMPDH type I	ic50	0.0550	uM
7-methoxy-6-(1,3-oxazol-5-yl)-2-thiophen-3-yl-1H-quinolin-4-one	92606: Inhibitory activity against inosine monophosphate dehydrogenase IMPDH type I	ic50	0.0550	uM
(E)-N-[(2R)-1-[[(2R,3S,4R,5R)-5-(6-aminopurin-9-yl)-3,4-dihydroxyoxolan-2-yl]methylamino]-3-(1H-indol-3-yl)-1-oxopropan-2-yl]-6-(4-hydroxy-6-methoxy-7-methyl-3-oxo-1H-2-benzofuran-5-yl)-4-methylhex-4-enamide	1060470: Inhibition of IMPDH1 (unknown origin)	ki	0.0560	uM
(2S)-2-[[(E)-6-(4-hydroxy-6-methoxy-7-methyl-3-oxo-1H-2-benzofuran-5-yl)-4-methylhex-4-enoyl]amino]-3-(1H-indol-3-yl)propanoic acid	1060470: Inhibition of IMPDH1 (unknown origin)	ki	0.0560	uM
[(2R,3S,4R,5R)-5-[6-amino-2-(furan-2-yl)purin-9-yl]-3,4-dihydroxyoxolan-2-yl]methoxy-[[hydroxy-[2-(4-hydroxy-6-methoxy-7-methyl-3-oxo-1H-2-benzofuran-5-yl)ethoxy]phosphoryl]methyl]phosphinic acid	1060470: Inhibition of IMPDH1 (unknown origin)	ki	0.0630	uM
[(2R,3S,4R,5R)-5-(6-amino-2-phenylpurin-9-yl)-3,4-dihydroxyoxolan-2-yl]methoxy-[[hydroxy-[2-(4-hydroxy-6-methoxy-7-methyl-3-oxo-1H-2-benzofuran-5-yl)ethoxy]phosphoryl]methyl]phosphinic acid	1797840: IMPDH Type 1 Enzyme Assay from Article 10.1021/jm070568j: “Probing Binding Requirements of Type I and Type II Isoforms of Inosine Monophosphate Dehydrogenase with Adenine-Modified Nicotinamide Adenine Dinucleotide Analogues.”	ki	0.0660	uM
(E)-N-hydroxy-6-(4-hydroxy-6-methoxy-7-methyl-3-oxo-1H-2-benzofuran-5-yl)-4-methylhex-4-enamide	304371: Inhibition of human IMPDH 1	ki	0.0700	uM
6-[(E)-4-[4-[[(2R,3S,4R,5R)-5-(6-aminopurin-9-yl)-3,4-dihydroxyoxolan-2-yl]methoxymethyl]triazol-1-yl]-3-methylbut-2-enyl]-7-hydroxy-5-methoxy-4-methyl-3H-2-benzofuran-1-one	492853: Inhibition of human IMPDH1	ki	0.0700	uM
6-[(E)-4-[[4-[[(2S,3R,4S,5S)-5-(6-aminopurin-9-yl)-3,4-dihydroxyoxolan-2-yl]methoxy]triazol-1-yl]methylamino]-3-methylbut-2-enyl]-7-hydroxy-5-methoxy-4-methyl-3H-2-benzofuran-1-one	580128: Inhibition of human IMPDH1 by Spectrophotometry	ki	0.0700	uM
[(2R,3S,4R,5R)-5-[6-amino-2-(phenylmethoxymethyl)purin-9-yl]-3,4-dihydroxyoxolan-2-yl]methoxy-[[hydroxy-[2-(4-hydroxy-6-methoxy-7-methyl-3-oxo-1H-2-benzofuran-5-yl)ethoxy]phosphoryl]methyl]phosphinic acid	1060470: Inhibition of IMPDH1 (unknown origin)	ki	0.0700	uM
[(E)-4-(6-ethyl-4-hydroxy-7-methyl-3-oxo-1H-2-benzofuran-5-yl)-2-methylbut-2-enyl]phosphonic acid	267725: Inhibition of human IMPDH1	ic50	0.0710	uM
[[(2R,3S,4R,5R)-5-[6-amino-2-(2-phenylethylamino)purin-9-yl]-3,4-dihydroxyoxolan-2-yl]methoxy-hydroxyphosphoryl] [(2R,3S,4R,5R)-5-(4-carbamoyl-1,3-thiazol-2-yl)-3,4-dihydroxyoxolan-2-yl]methyl hydrogen phosphate	1797840: IMPDH Type 1 Enzyme Assay from Article 10.1021/jm070568j: “Probing Binding Requirements of Type I and Type II Isoforms of Inosine Monophosphate Dehydrogenase with Adenine-Modified Nicotinamide Adenine Dinucleotide Analogues.”	ki	0.0730	uM
6-[(E)-4-[[1-[[(2R,3S,4R,5R)-5-(6-aminopurin-9-yl)-3,4-dihydroxyoxolan-2-yl]methyl]triazol-4-yl]methylamino]-3-methylbut-2-enyl]-7-hydroxy-5-methoxy-4-methyl-3H-2-benzofuran-1-one	492853: Inhibition of human IMPDH1	ki	0.0770	uM
6-[(E)-4-[[1-[[(2S,3R,4S,5S)-5-(6-aminopurin-9-yl)-3,4-dihydroxyoxolan-2-yl]methyl]triazol-4-yl]methylamino]-3-methylbut-2-enyl]-7-hydroxy-5-methoxy-4-methyl-3H-2-benzofuran-1-one	580128: Inhibition of human IMPDH1 by Spectrophotometry	ki	0.0770	uM
[(2R,3S,4R,5R)-5-(6-amino-2-thiophen-2-ylpurin-9-yl)-3,4-dihydroxyoxolan-2-yl]methoxy-[[hydroxy-[2-(4-hydroxy-6-methoxy-7-methyl-3-oxo-1H-2-benzofuran-5-yl)ethoxy]phosphoryl]methyl]phosphinic acid	1060470: Inhibition of IMPDH1 (unknown origin)	ki	0.0820	uM
2-(3,4-dimethylphenyl)-7-methoxy-6-(1,3-oxazol-5-yl)-1H-quinolin-4-one	92606: Inhibitory activity against inosine monophosphate dehydrogenase IMPDH type I	ic50	0.0830	uM
[[(3R,4S)-5-(6-aminopurin-9-yl)-3,4-dihydroxyoxolan-2-yl]methoxy-hydroxyphosphoryl]oxymethyl-[2-(4-hydroxy-6-methoxy-7-methyl-3-oxo-1H-2-benzofuran-5-yl)ethoxy]phosphinic acid	268954: Inhibition of human IMPDH1	ki	0.0870	uM
[[(2S,3R,4S,5S)-5-(6-aminopurin-9-yl)-3,4-dihydroxyoxolan-2-yl]methoxy-hydroxyphosphoryl]oxymethyl-[2-(4-hydroxy-6-methoxy-7-methyl-3-oxo-1H-2-benzofuran-5-yl)ethoxy]phosphinic acid	580128: Inhibition of human IMPDH1 by Spectrophotometry	ki	0.0870	uM
7-methoxy-2-(4-methoxyphenyl)-6-(1,3-oxazol-5-yl)-1H-quinolin-4-one	92606: Inhibitory activity against inosine monophosphate dehydrogenase IMPDH type I	ic50	0.0900	uM

CTD chemical–gene interactions

44 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects expression, increases expression, increases methylation	3
(+)-JQ1 compound	decreases expression	2
Acetaminophen	increases expression, affects cotreatment	2
TAK-243	increases sumoylation	1
dicrotophos	increases expression	1
methyleugenol	increases expression	1
triphenyl phosphate	affects expression	1
beta-lapachone	decreases expression, increases expression	1
sodium arsenite	increases expression	1
CGP 52608	affects binding, increases reaction	1
abrine	decreases expression	1
bisphenol S	decreases expression, affects cotreatment	1
Temozolomide	increases expression	1
Sunitinib	increases expression	1
Air Pollutants	affects expression, increases abundance	1
Azathioprine	affects response to substance	1
Benzo(a)pyrene	increases expression	1
Biological Factors	increases expression	1
Carbamazepine	affects expression	1
Cuprizone	affects cotreatment, increases expression	1
Dexamethasone	affects cotreatment, decreases expression	1
Dietary Carbohydrates	affects cotreatment, increases expression	1
Doxorubicin	decreases expression	1
Enzyme Inhibitors	decreases activity, increases O-linked glycosylation	1
Estradiol	increases expression	1
Gallic Acid	decreases expression	1
Haloperidol	affects cotreatment, increases expression	1
Indomethacin	affects cotreatment, decreases expression	1
Ivermectin	decreases expression	1
Methotrexate	decreases expression	1

ChEMBL screening assays

46 unique, capped per target: 40 binding, 6 functional

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL1032989	Binding	Inhibition of human recombinant IMPDH1 expressed in Escherichia coli guaB assessed as NADH production by fluorescence assay	Triazole inhibitors of Cryptosporidium parvum inosine 5’-monophosphate dehydrogenase. — J Med Chem
CHEMBL699978	Functional	Compound was tested for its effect on IMPDH (Inosine 5`-monophosphate dehydrogenase) activity in K562 cells	Synthesis, structure, and antiproliferative activity of selenophenfurin, an inosine 5’-monophosphate dehydrogenase inhibitor analogue of selenazofurin. — J Med Chem

Cellosaurus cell lines

5 cell lines: 5 cancer cell line

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_D1NH	Abcam K-562 IMPDH1 KO	Cancer cell line	Female
CVCL_D2K2	Abcam Raji IMPDH1 KO	Cancer cell line	Male
CVCL_SS56	HAP1 IMPDH1 (-) 1	Cancer cell line	Male
CVCL_SS57	HAP1 IMPDH1 (-) 2	Cancer cell line	Male
CVCL_UQ83	Abcam Jurkat IMPDH1 KO	Cancer cell line	Male

Clinical trials (associated diseases)

302 trials via MONDO — disease-level, not drug-specific.

Trial	Phase	Status	Title
NCT00717080	PHASE4	COMPLETED	The Role of Capsular Tension Ring (CTR) in Anterior Capsular Contraction
NCT01955135	PHASE4	COMPLETED	Anesthesia for Retinopathy of Prematurity
NCT00999609	PHASE3	ACTIVE_NOT_RECRUITING	Safety and Efficacy Study in Subjects With Leber Congenital Amaurosis
NCT06891443	PHASE3	RECRUITING	Study to Evaluate Sepofarsen in Subjects With Leber Congenital Amaurosis (LCA) Type 10 (HYPERION)
NCT00000114	PHASE3	COMPLETED	Randomized Trial of Vitamin A and Vitamin E Supplementation for Retinitis Pigmentosa
NCT00000116	PHASE3	COMPLETED	Randomized Trial of DHA for Retinitis Pigmentosa Patients Receiving Vitamin A
NCT00346333	PHASE3	COMPLETED	Clinical Trial of Lutein for Patients With Retinitis Pigmentosa Receiving Vitamin A
NCT01786395	PHASE3	TERMINATED	Phase III Efficacy and Safety Clinical Study of UF-021 for Treatment of Retinitis Pigmentosa
NCT04224207	PHASE3	COMPLETED	Management of Retinitis Pigmentosa by Mesenchymal Stem Cells by Wharton’s Jelly Derived Mesenchymal Stem Cells
NCT04636853	PHASE3	COMPLETED	CB-PRP in Retinitis Pigmentosa and Dry Age-related Macular Degeneration
NCT05537220	PHASE3	ACTIVE_NOT_RECRUITING	Oral N-acetylcysteine for Retinitis Pigmentosa
NCT05800301	PHASE3	COMPLETED	Management of Retinitis Pigmentosa Via Combination of Wharton’s Jelly-derived Mesenchymal Stem Cells and Magnovision
NCT05926583	PHASE3	ACTIVE_NOT_RECRUITING	A Study of AAV5-hRKp.RPGR for the Treatment of Japanese Participants With X-linked Retinitis Pigmentosa
NCT06388200	PHASE3	ACTIVE_NOT_RECRUITING	A Phase 3 Study Of OCU400 Gene Therapy for the Treatment Of Retinitis Pigmentosa
NCT07082855	PHASE3	NOT_YET_RECRUITING	A Multicenter, Randomized, Double-Blind, Controlled Clinical Study of Minocycline for the Treatment of Retinitis Pigmentosa
NCT07290530	PHASE3	NOT_YET_RECRUITING	24-Month Trial of NPI-001 for the Preservation of Photoreceptors in Retinitis Pigmentosa Associated With Usher Syndrome
NCT00100230	PHASE2	COMPLETED	DHA and X-Linked Retinitis Pigmentosa
NCT00447980	PHASE2	COMPLETED	A Study of Encapsulated Cell Technology (ECT) Implant for Participants With Early Stage Retinitis Pigmentosa
NCT00447993	PHASE2	COMPLETED	A Study of Encapsulated Cell Technology (ECT) Implant for Patients With Late Stage Retinitis Pigmentosa
NCT01233609	PHASE2	COMPLETED	Trial of Oral Valproic Acid for Retinitis Pigmentosa
NCT01399515	PHASE2	COMPLETED	Efficacy and Safety of Oral Valproic Acid for Retinitis Pigmentosa
NCT01530659	PHASE2	COMPLETED	Retinal Imaging in CNTF -Releasing Encapsulated Cell Implant Treated Patients for Early-stage Retinitis Pigmentosa
NCT01560715	PHASE2	COMPLETED	Autologous Bone Marrow-Derived Stem Cells Transplantation For Retinitis Pigmentosa
NCT02609165	PHASE2	COMPLETED	Nerve Growth Factor Eye Drops Treatment in Patients With Retinitis Pigmentosa and Cystoid Macular Edema
NCT02661711	PHASE2	COMPLETED	Aflibercept for Macular Oedema With Underlying Retinitis Pigmentosa (AMOUR) Study
NCT02804360	PHASE2	UNKNOWN	Intravitreal Dexamethasone Implant in Retinitis Pigmentosa-related Macular Edema- a Retrospective Study
NCT02837640	PHASE2	UNKNOWN	Studying a Potential Protective Effect of L-Dopa on Retinitis Pigmentosa
NCT03073733	PHASE2	COMPLETED	Safety and Efficacy of Intravitreal Injection of Human Retinal Progenitor Cells in Adults With Retinitis Pigmentosa
NCT04068207	PHASE2	COMPLETED	Minocycline Treatment in Retinitis Pigmentosa
NCT04356716	PHASE2	COMPLETED	Sildenafil for Treatment of Choroidal Ischemia
NCT04604899	PHASE2	COMPLETED	Safety of Repeat Intravitreal Injection of Human Retinal Progenitor Cells (jCell) in Adult Subjects With Retinitis Pigmentosa
NCT04763369	PHASE2	UNKNOWN	Investigation of Therapeutic Efficacy and Safety of UMSCs for the Management of Retinitis Pigmentosa (RP)
NCT04864496	PHASE2	UNKNOWN	Effects of Treatment With N- Acetylcysteine on Visual Outcomes in Patients With Retinitis Pigmentosa
NCT04945772	PHASE2	COMPLETED	Efficacy and Safety of MCO-010 Optogenetic Therapy in Adults With Retinitis Pigmentosa [RESTORE]
NCT05085964	PHASE2	TERMINATED	An Open-Label Extension Study to Evaluate Safety & Tolerability of QR-421a in Subjects With Retinitis Pigmentosa
NCT05392179	PHASE2	COMPLETED	A Study in Subjects With Retinitis Pigmentosa
NCT06627179	PHASE2	RECRUITING	Study to Evaluate Ultevursen in Subjects With Retinitis Pigmentosa (RP) Due to Mutations in Exon 13 of the USH2A Gene
NCT06628947	PHASE2	RECRUITING	A Phase II Study of Intravitreal KIO-301 in Patients With Late-stage Retinitis Pigmentosa
NCT06912633	PHASE2	RECRUITING	Safety of a Single, Intravitreal Injection of 6.0M jCell (Famzeretcel) in Retinitis Pigmentosa (RP)
NCT03763227	PHASE2	COMPLETED	Intravitreal Ranibizumab (Lucentis®) in the Treatment of Non-leaking Macular Cysts in Retinal Dystrophy