HIBADH

Summary

HIBADH (3-hydroxyisobutyrate dehydrogenase, HGNC:4907) is a protein-coding gene on chromosome 7p15.2, encoding 3-hydroxyisobutyrate dehydrogenase, mitochondrial (P31937).

This gene encodes a mitochondrial 3-hydroxyisobutyrate dehydrogenase enzyme. The encoded protein plays a critical role in the catabolism of L-valine by catalyzing the oxidation of 3-hydroxyisobutyrate to methylmalonate semialdehyde.

Source: NCBI Gene 11112 — RefSeq curated summary.

At a glance

• Gene–disease (curated): 3-hydroxyisobutyric aciduria (Limited, ClinGen) — +1 more curated relationship
• GWAS associations: 12
• Clinical variants (ClinVar): 62 total
• Druggable target: yes
• MANE Select transcript: NM_152740

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:4907
Approved symbol	HIBADH
Name	3-hydroxyisobutyrate dehydrogenase
Location	7p15.2
Locus type	gene with protein product
Status	Approved
Aliases	NS5ATP1
Ensembl gene	ENSG00000106049
Ensembl biotype	protein_coding
OMIM	608475
Entrez	11112

Gene structure

Transcript identifiers

Ensembl transcripts: 19 — 17 protein_coding, 1 nonsense_mediated_decay, 1 retained_intron

ENST00000265395, ENST00000425715, ENST00000428288, ENST00000496814, ENST00000879279, ENST00000879280, ENST00000879281, ENST00000879282, ENST00000879283, ENST00000879284, ENST00000879285, ENST00000879286, ENST00000879287, ENST00000939047, ENST00000939048, ENST00000956049, ENST00000956050, ENST00000956051, ENST00000956052

RefSeq mRNA: 2 — MANE Select: NM_152740 NM_001430749, NM_152740

CCDS: CCDS5414

Canonical transcript exons

ENST00000265395 — 8 exons

Exon	Start	End
ENSE00000832118	27649473	27649633
ENSE00001146996	27525442	27526372
ENSE00001147003	27662698	27662883
ENSE00003513738	27542967	27543100
ENSE00003536061	27538341	27538417
ENSE00003598015	27632336	27632445
ENSE00003666470	27629371	27629492
ENSE00003680459	27531192	27531348

Expression profiles

Bgee: expression breadth ubiquitous, 260 present calls, max score 99.22.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 27.1307 / max 232.7776, expressed in 1815 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter ID	TPM avg	Samples expressed
83347	25.2449	1815
83346	0.9253	535
83344	0.5342	302
83345	0.4263	226

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
kidney epithelium	UBERON:0004819	99.22	gold quality
left ventricle myocardium	UBERON:0006566	99.14	gold quality
cardiac muscle of right atrium	UBERON:0003379	98.71	gold quality
renal medulla	UBERON:0000362	97.89	gold quality
right adrenal gland cortex	UBERON:0035827	97.75	gold quality
right adrenal gland	UBERON:0001233	97.63	gold quality
adult mammalian kidney	UBERON:0000082	97.21	gold quality
left adrenal gland	UBERON:0001234	97.19	gold quality
quadriceps femoris	UBERON:0001377	97.13	gold quality
adrenal cortex	UBERON:0001235	97.04	gold quality
left adrenal gland cortex	UBERON:0035825	97.02	gold quality
vastus lateralis	UBERON:0001379	96.95	gold quality
deltoid	UBERON:0001476	96.95	gold quality
myocardium	UBERON:0002349	96.89	gold quality
biceps brachii	UBERON:0001507	96.88	gold quality
adrenal gland	UBERON:0002369	96.87	gold quality
skeletal muscle tissue	UBERON:0001134	96.65	gold quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	96.57	gold quality
heart right ventricle	UBERON:0002080	96.51	gold quality
right lobe of liver	UBERON:0001114	96.48	gold quality
hindlimb stylopod muscle	UBERON:0004252	96.46	gold quality
kidney	UBERON:0002113	96.21	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	96.17	gold quality
muscle tissue	UBERON:0002385	96.05	gold quality
tibialis anterior	UBERON:0001385	95.95	gold quality
liver	UBERON:0002107	95.95	gold quality
skeletal muscle organ	UBERON:0014892	95.81	gold quality
adrenal tissue	UBERON:0018303	95.77	gold quality
muscle of leg	UBERON:0001383	95.51	gold quality
gastrocnemius	UBERON:0001388	95.31	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

77 targeting HIBADH, 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-5692B	100.00	71.32	2622
HSA-MIR-5692C	100.00	71.32	2622
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-4668-3P	100.00	68.74	2635
HSA-MIR-186-5P	99.99	70.83	3707
HSA-MIR-8068	99.98	73.85	2376
HSA-MIR-12136	99.98	72.81	5713
HSA-MIR-3605-5P	99.96	67.12	932
HSA-MIR-559	99.95	72.28	3609
HSA-MIR-548AB	99.95	71.31	3488
HSA-MIR-548A-5P	99.94	71.27	3482
HSA-MIR-548AD-5P	99.94	71.23	3502
HSA-MIR-548AE-5P	99.94	71.23	3502
HSA-MIR-548AK	99.94	71.24	3488
HSA-MIR-548AM-5P	99.94	71.24	3488
HSA-MIR-548AP-5P	99.94	71.14	3489
HSA-MIR-548AQ-5P	99.94	71.34	3426
HSA-MIR-548AR-5P	99.94	71.28	3515
HSA-MIR-548AS-5P	99.94	71.22	3482
HSA-MIR-548AU-5P	99.94	71.24	3488
HSA-MIR-548AY-5P	99.94	71.23	3502
HSA-MIR-548B-5P	99.94	71.23	3502
HSA-MIR-548BB-5P	99.94	71.27	3509
HSA-MIR-548C-5P	99.94	71.24	3488
HSA-MIR-548D-5P	99.94	71.23	3502
HSA-MIR-548H-5P	99.94	71.24	3488
HSA-MIR-548I	99.94	71.25	3481
HSA-MIR-548J-5P	99.94	71.14	3489
HSA-MIR-548O-5P	99.94	71.24	3488

Literature-anchored findings (GeneRIF, showing 1)

• HIBADH is involved in the mitochondrial function of spermatozoa, and maintains sperm motility. It may serve as a sperm-motility marker. (PMID:23423614)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	hibadhb	ENSDARG00000007959
mus_musculus	Hibadh	ENSMUSG00000029776
rattus_norvegicus	Hibadh	ENSRNOG00000008063
drosophila_melanogaster	CG15093	FBGN0034390
caenorhabditis_elegans		WBGENE00007122

Paralogs (1): GLYR1 (ENSG00000140632)

Protein

Protein identifiers

3-hydroxyisobutyrate dehydrogenase, mitochondrial — P31937 (reviewed: P31937)

All UniProt accessions (4): P31937, A0A024RA75, F8WET2, H7BZL2

UniProt curated annotations — full annotation on UniProt →

Subunit / interactions. Homodimer.

Subcellular location. Mitochondrion.

Tissue specificity. Detected in skin fibroblasts.

Pathway. Amino-acid degradation; L-valine degradation.

Similarity. Belongs to the HIBADH-related family. 3-hydroxyisobutyrate dehydrogenase subfamily.

RefSeq proteins (2): NP_001417678, NP_689953* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR002204	3-OH-isobutyrate_DH-rel_CS	Conserved_site
IPR006115	6PGDH_NADP-bd	Domain
IPR008927	6-PGluconate_DH-like_C_sf	Homologous_superfamily
IPR011548	HIBADH	Family
IPR013328	6PGD_dom2	Homologous_superfamily
IPR015815	HIBADH-related	Family
IPR029154	HIBADH-like_NADP-bd	Domain
IPR036291	NAD(P)-bd_dom_sf	Homologous_superfamily

Pfam: PF03446, PF14833

Catalyzed reactions (Rhea), 1 shown:

• 3-hydroxy-2-methylpropanoate + NAD(+) = 2-methyl-3-oxopropanoate + NADH + H(+) (RHEA:17681)

UniProt features (56 total): modified residue 17, helix 17, strand 10, binding site 5, turn 4, transit peptide 1, chain 1, active site 1

Structure

Experimental structures (PDB)

2 structures.

PDB	Method	Resolution (Å)
2GF2	X-RAY DIFFRACTION	2.38
2I9P	X-RAY DIFFRACTION	2.55

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P31937-F1	90.52	0.85

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 (1): 209

Ligand- & substrate-binding residues (5): 40–68; 103–104; 108; 134; 284

Post-translational modifications (17): 76, 76, 95, 121, 141, 145, 149, 149, 238, 238, 242, 242, 297, 321, 321, 60, 60

Function

Pathways and Gene Ontology

Reactome pathways

3 pathways

ID	Pathway
R-HSA-70895	Branched-chain amino acid catabolism
R-HSA-1430728	Metabolism
R-HSA-71291	Metabolism of amino acids and derivatives

MSigDB gene sets: 174 (showing top): FREAC2_01, GOBP_ALPHA_AMINO_ACID_METABOLIC_PROCESS, STARK_PREFRONTAL_CORTEX_22Q11_DELETION_DN, TGACCTY_ERR1_Q2, KEGG_VALINE_LEUCINE_AND_ISOLEUCINE_DEGRADATION, SHETH_LIVER_CANCER_VS_TXNIP_LOSS_PAM4, KYNG_DNA_DAMAGE_BY_GAMMA_RADIATION, GOBP_ORGANIC_ACID_CATABOLIC_PROCESS, HNF4_DR1_Q3, PPAR_DR1_Q2, GOBP_ORGANIC_ACID_METABOLIC_PROCESS, GOBP_SMALL_MOLECULE_CATABOLIC_PROCESS, NAKAMURA_TUMOR_ZONE_PERIPHERAL_VS_CENTRAL_DN, GOBP_AMINO_ACID_CATABOLIC_PROCESS, GOMF_OXIDOREDUCTASE_ACTIVITY_ACTING_ON_CH_OH_GROUP_OF_DONORS

GO Biological Process (2): L-valine catabolic process (GO:0006574), branched-chain amino acid catabolic process (GO:0009083)

GO Molecular Function (5): 3-hydroxyisobutyrate dehydrogenase activity (GO:0008442), NADP binding (GO:0050661), NAD binding (GO:0051287), protein binding (GO:0005515), oxidoreductase activity (GO:0016491)

GO Cellular Component (2): mitochondrion (GO:0005739), mitochondrial matrix (GO:0005759)

Reactome top-level categories

Rollup of top-2 pathways:

Category	Pathways
Metabolism of amino acids and derivatives	1
Metabolism	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
adenyl nucleotide binding	2
branched-chain amino acid catabolic process	1
L-amino acid catabolic process	1
proteinogenic amino acid catabolic process	1
amino acid catabolic process	1
branched-chain amino acid metabolic process	1
carboxylic acid catabolic process	1
oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor	1
binding	1
catalytic activity	1
cytoplasm	1
intracellular membrane-bounded organelle	1
mitochondrion	1
intracellular organelle lumen	1

Protein interactions and networks

STRING

2120 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
HIBADH	HIBCH	Q6NVY1	687
HIBADH	ALDH6A1	Q02252	683
HIBADH	JAZF1	Q86VZ6	580
HIBADH	BCAT2	O15382	559
HIBADH	TAX1BP1	Q86VP1	551
HIBADH	MCCC1	Q96RQ3	544
HIBADH	IVD	P26440	538
HIBADH	ACAD8	Q9UKU7	519
HIBADH	BCKDHB	P21953	514
HIBADH	BCAT1	P54687	509
HIBADH	PCCA	P05165	508
HIBADH	PCCB	P05166	506
HIBADH	HOXA13	P31271	502
HIBADH	BCKDHA	P12694	496
HIBADH	ACADSB	P45954	469

IntAct

135 interactions, top by confidence:

A	B	Type	Score
TMEM86B	HIBADH	psi-mi:“MI:0915”(physical association)	0.560
RTP2	HIBADH	psi-mi:“MI:0915”(physical association)	0.560
GOSR2	HIBADH	psi-mi:“MI:0915”(physical association)	0.560
TMEM222	HIBADH	psi-mi:“MI:0915”(physical association)	0.560
SFT2D2	HIBADH	psi-mi:“MI:0915”(physical association)	0.560
SNORC	HIBADH	psi-mi:“MI:0915”(physical association)	0.560
PRAF2	HIBADH	psi-mi:“MI:0915”(physical association)	0.560
HIBADH	CMTM7	psi-mi:“MI:0915”(physical association)	0.560
VAMP5	HIBADH	psi-mi:“MI:0915”(physical association)	0.560
HIBADH	NDUFB11	psi-mi:“MI:0915”(physical association)	0.560
MAL	HIBADH	psi-mi:“MI:0915”(physical association)	0.560
HIBADH	EFNA5	psi-mi:“MI:0915”(physical association)	0.560
HIBADH	TMEM14B	psi-mi:“MI:0915”(physical association)	0.560
HIBADH	TMEM86B	psi-mi:“MI:0915”(physical association)	0.560
HIBADH	TM6SF2	psi-mi:“MI:0915”(physical association)	0.560
HIBADH	AMELY	psi-mi:“MI:0915”(physical association)	0.560
HIBADH	AGTRAP	psi-mi:“MI:0915”(physical association)	0.560
HIBADH	CLEC2A	psi-mi:“MI:0915”(physical association)	0.560
HIBADH	ERMP1	psi-mi:“MI:0915”(physical association)	0.560
HIBADH	PPGB	psi-mi:“MI:0915”(physical association)	0.560
HIBADH	AQP3	psi-mi:“MI:0915”(physical association)	0.560
C2CD2L	HIBADH	psi-mi:“MI:0915”(physical association)	0.560
SEC22B	HIBADH	psi-mi:“MI:0915”(physical association)	0.560
CDS2	HIBADH	psi-mi:“MI:0915”(physical association)	0.560
HIBADH	SCARB2	psi-mi:“MI:0915”(physical association)	0.560
PAEP	HIBADH	psi-mi:“MI:0915”(physical association)	0.560
HIBADH	TMEM222	psi-mi:“MI:0915”(physical association)	0.560

BioGRID (109): ALDH1B1 (Co-fractionation), ALDH6A1 (Co-fractionation), MDH1 (Co-fractionation), PDXK (Co-fractionation), SOD1 (Co-fractionation), HIBADH (Affinity Capture-MS), NENF (Co-fractionation), YWHAE (Co-fractionation), ATPAF1 (Co-fractionation), HIBADH (Co-fractionation), HIBADH (Co-fractionation), HIBADH (Co-fractionation), HIBADH (Co-fractionation), ACAA2 (Co-fractionation), BCAT1 (Co-fractionation)

ESM2 similar proteins: A0A0H2VA68, A1UQV8, A9W386, B1LZN1, B1ZG93, B7F958, B7KVX2, B8EM38, D7URM0, O07299, O33730, O34948, P0A9T0, P0A9T1, P0A9T2, P0A9T3, P0A9V8, P0A9V9, P0ABQ2, P0ABQ3, P11759, P28811, P31937, P44979, P54448, P59793, P63936, P77161, P9WNY4, P9WNY5, Q0KBC7, Q169U9, Q2QS13, Q2QS14, Q46888, Q4ZSC0, Q5R5E7, Q5W9E3, Q6CZ26, Q75GS4

Diamond homologs: A4FUF0, F4I907, O33730, O34948, O34969, P0ABQ2, P0ABQ3, P28811, P31937, P77161, Q0QLF5, Q175F8, Q29NG1, Q49A26, Q54CX6, Q562D5, Q5R5E7, Q5R7T2, Q5RKH0, Q5RKN4, Q5ZLS7, Q7Q161, Q8T079, Q922P9, Q99L13, Q9I5I6, Q9LSV0, Q9SUC0, Q9SZE1, Q9V8M5, P0A9V8, P0A9V9, P29266, P63936, P9WNY4, P9WNY5, Q2HJD7, Q55702, Q949M8, Q9C991

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	45
Likely benign	2
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

2994 predictions. Top by Δscore:

Variant	Effect	Δscore
7:27535402:T:C	donor_gain	1.0000
7:27538336:CAAA:C	donor_loss	1.0000
7:27538339:ACCT:A	donor_loss	1.0000
7:27538340:C:T	donor_loss	1.0000
7:27538416:GCCTG:G	acceptor_loss	1.0000
7:27538417:CCT:C	acceptor_loss	1.0000
7:27538418:C:CC	acceptor_gain	1.0000
7:27538419:T:C	acceptor_loss	1.0000
7:27542961:TCTTA:T	donor_loss	1.0000
7:27542962:CTTAC:C	donor_loss	1.0000
7:27542963:TTA:T	donor_loss	1.0000
7:27542964:TACCT:T	donor_loss	1.0000
7:27542965:A:AC	donor_gain	1.0000
7:27542965:A:AT	donor_loss	1.0000
7:27542965:ACCTG:A	donor_gain	1.0000
7:27542966:C:CC	donor_gain	1.0000
7:27542966:C:CT	donor_loss	1.0000
7:27542966:CCTG:C	donor_gain	1.0000
7:27542966:CCTGC:C	donor_gain	1.0000
7:27542969:G:A	donor_gain	1.0000
7:27543107:CA:C	acceptor_gain	1.0000
7:27543108:A:C	acceptor_gain	1.0000
7:27543108:A:T	acceptor_gain	1.0000
7:27543110:T:C	acceptor_gain	1.0000
7:27543110:T:TC	acceptor_gain	1.0000
7:27543116:G:C	acceptor_gain	1.0000
7:27543116:G:GC	acceptor_gain	1.0000
7:27602355:A:AC	donor_gain	1.0000
7:27602356:T:C	donor_gain	1.0000
7:27629367:TTACC:T	donor_loss	1.0000

AlphaMissense

2175 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
7:27531213:A:C	F277L	1.000
7:27531213:A:T	F277L	1.000
7:27531215:A:G	F277L	1.000
7:27538409:C:A	K209N	1.000
7:27538409:C:G	K209N	1.000
7:27649574:C:A	G51W	1.000
7:27526260:T:A	D322V	0.999
7:27526261:C:G	D322H	0.999
7:27526368:A:G	L286P	0.999
7:27526371:T:G	D285A	0.999
7:27526372:C:G	D285H	0.999
7:27531282:A:C	S254R	0.999
7:27531282:A:T	S254R	0.999
7:27531284:T:G	S254R	0.999
7:27531298:C:T	G249E	0.999
7:27538397:G:C	N213K	0.999
7:27538397:G:T	N213K	0.999
7:27542972:C:A	G205W	0.999
7:27543073:A:G	L171P	0.999
7:27543073:A:T	L171H	0.999
7:27629373:C:T	G161D	0.999
7:27629379:A:T	V159D	0.999
7:27629382:G:T	P158H	0.999
7:27629386:C:G	A157P	0.999
7:27629456:G:C	S133R	0.999
7:27629456:G:T	S133R	0.999
7:27629457:C:A	S133I	0.999
7:27629458:T:G	S133R	0.999
7:27649573:C:A	G51V	0.999
7:27649573:C:T	G51E	0.999

dbSNP variants (sampled 300 via entrez): RS1000005352 (7:27634790 G>A,C), RS1000008043 (7:27527111 G>A), RS1000012617 (7:27567362 C>A,T), RS1000024495 (7:27590587 G>C), RS1000027702 (7:27647641 T>C), RS1000039921 (7:27597074 G>A,T), RS1000046567 (7:27553352 T>A), RS1000079671 (7:27638044 T>C), RS1000080060 (7:27575488 G>A), RS1000156227 (7:27546942 T>C), RS1000163969 (7:27654095 T>C), RS1000177186 (7:27572629 T>G), RS1000178999 (7:27610192 C>A), RS1000199291 (7:27530918 A>G), RS1000212443 (7:27622324 C>T)

Disease associations

OMIM: gene MIM:608475 | disease phenotypes:

GenCC curated gene-disease

Disease	Classification	Inheritance
inborn organic aciduria	Limited	Autosomal recessive
3-hydroxyisobutyric aciduria	Limited	Autosomal recessive

ClinGen Gene-Disease Validity (1)

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

Disease	Classification	Inheritance
3-hydroxyisobutyric aciduria	Limited	AR

Mondo (2): inborn organic aciduria (MONDO:0000688), 3-hydroxyisobutyric aciduria (MONDO:0009371)

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

12 associations (top):

Study	Trait	p-value
GCST002831_8	Lead levels in blood	4.000000e-06
GCST003485_5	Response to fenofibrate (HDL cholesterol levels)	3.000000e-06
GCST007094_63	Diastolic blood pressure	5.000000e-09
GCST007096_76	Pulse pressure	3.000000e-06
GCST007098_83	Diastolic blood pressure	3.000000e-06
GCST007098_84	Diastolic blood pressure	9.000000e-06
GCST007099_223	Systolic blood pressure	3.000000e-12
GCST007325_226	General risk tolerance (MTAG)	4.000000e-09
GCST007328_76	Alcohol consumption (drinks per week)	8.000000e-09
GCST009598_8	Kidney stones	1.000000e-10
GCST009599_9	Kidney stones	3.000000e-10
GCST009798_87	Asthma	9.000000e-13

EFO canonical traits (5, from GWAS)

EFO ID	Trait name
EFO:0007805	HDL cholesterol change measurement
EFO:0006336	diastolic blood pressure
EFO:0005763	pulse pressure measurement
EFO:0006335	systolic blood pressure
EFO:0008579	risk-taking behaviour

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
C535312	3-Hydroxyisobutyric aciduria (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL4523215 (SINGLE PROTEIN)

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Air Pollutants	affects cotreatment, increases abundance, increases oxidation, decreases methylation, decreases expression	3
Valproic Acid	affects expression, increases expression	3
methylmercuric chloride	decreases expression	2
bisphenol A	affects cotreatment, increases methylation, increases expression	2
sodium arsenite	decreases expression, affects cotreatment, increases abundance	2
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, increases expression, decreases expression	2
Benzo(a)pyrene	increases methylation, decreases expression	2
Phenylmercuric Acetate	affects cotreatment, decreases expression	2
aristolochic acid I	decreases expression	1
bisphenol F	increases expression	1
dicrotophos	decreases expression	1
alpha-pinene	affects cotreatment, increases oxidation, increases abundance	1
perfluorooctanoic acid	increases expression	1
manganese chloride	decreases expression, increases abundance, affects cotreatment	1
methacrylaldehyde	affects cotreatment, increases oxidation, increases abundance	1
M-VAC protocol	increases response to substance	1
beta-methylcholine	affects expression	1
entinostat	increases expression	1
nutlin 3	affects cotreatment, increases secretion	1
bisphenol B	increases expression	1
dorsomorphin	affects cotreatment, decreases expression	1
bisphenol S	increases expression	1
LDN 193189	affects cotreatment, increases expression	1
bisphenol AF	increases expression	1
Sunitinib	decreases expression	1
Arsenic Trioxide	increases expression	1
Fulvestrant	affects cotreatment, increases methylation	1
Acetaminophen	increases expression	1
Acrolein	affects cotreatment, increases oxidation, increases abundance	1
Arsenic	increases abundance, affects cotreatment, decreases expression	1

ChEMBL screening assays

2 unique, capped per target: 2 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL4375170	Binding	Binding affinity to 3-hydroxyisobutyrate dehydrogenase in human MDA-MB-468 cells at 10 uM incubated for 2 hrs in presence of 2-[4-[(1S)-1-[[6-(10-aminodecyl)-4,5-dichloro-1-methyl-indole-2-carbonyl]amino]-2-hydroxy-ethyl]phenyl]sulfonylacet	Intracellular Trapping of the Selective Phosphoglycerate Dehydrogenase (PHGDH) Inhibitor BI-4924 Disrupts Serine Biosynthesis. — J Med Chem

Cellosaurus cell lines

1 cell lines: 1 cancer cell line

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

Cellosaurus	Name	Category	Sex
CVCL_B1TM	Abcam HeLa HIBADH KO	Cancer cell line	Female

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT01624311	PHASE2	COMPLETED	Pilot Study For Hypothermia Treatment In Hyperammonemic Encephalopathy In Neonates And Very Young Infants
NCT04836494	PHASE1	TERMINATED	A First in Human, Dose Escalation Study to Evaluate the Safety and Tolerability of BBP-671 in Healthy Volunteers and Patients With Propionic Acidemia or Methylmalonic Acidemia
NCT00078078	Not specified	RECRUITING	Clinical and Laboratory Study of Methylmalonic Acidemia
NCT02890342	Not specified	RECRUITING	Natural History, Physiology, Microbiome and Biochemistry Studies of Propionic Acidemia
NCT04602325	Not specified	RECRUITING	Systemic Biomarkers of Brain Injury From Hyperammonemia
NCT04904705	Not specified	COMPLETED	The Effect of the Cognitive Orientation to Daily Occupational Performance Approach for Children With Organic Acidemia
NCT06953505	Not specified	RECRUITING	At Home Ammonia Monitoring of Inborn Errors of Ammonia Metabolism