FAHD1

Summary

FAHD1 (FAH domain containing oxaloacetate decarboxylase 1, HGNC:14169) is a protein-coding gene on chromosome 16p13.3, encoding Oxaloacetate tautomerase FAHD1, mitochondrial (Q6P587). Tautomerase that converts enol-oxaloacetate, a strong inhibitor of succinate dehydrogenase, to the physiological keto form of oxaloacetate.

Enables hydrolase activity, acting on acid carbon-carbon bonds, in ketonic substances; oxaloacetate decarboxylase activity; and oxaloacetate tautomerase activity. Involved in oxaloacetate metabolic process. Located in cytosol; mitochondrion; and nucleoplasm.

Source: NCBI Gene 81889 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 76 total — 3 pathogenic, 2 likely-pathogenic
• Druggable target: yes
• MANE Select transcript: NM_031208

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:14169
Approved symbol	FAHD1
Name	FAH domain containing oxaloacetate decarboxylase 1
Location	16p13.3
Locus type	gene with protein product
Status	Approved
Aliases	DKFZP566J2046
Ensembl gene	ENSG00000180185
Ensembl biotype	protein_coding
OMIM	616320
Entrez	81889

Gene structure

Transcript identifiers

Ensembl transcripts: 3 — 3 protein_coding

ENST00000382666, ENST00000382668, ENST00000427358

RefSeq mRNA: 3 — MANE Select: NM_031208 NM_001018104, NM_001142398, NM_031208

CCDS: CCDS10448, CCDS32367, CCDS45380

Canonical transcript exons

ENST00000427358 — 1 exons

Exon	Start	End
ENSE00003978179	1827206	1828910

Expression profiles

Bgee: expression breadth ubiquitous, 255 present calls, max score 99.10.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 18.3709 / max 132.9588, expressed in 1787 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
152136	17.5434	1786
152135	0.8275	534

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
kidney epithelium	UBERON:0004819	99.10	gold quality
ileal mucosa	UBERON:0000331	96.34	gold quality
pancreatic ductal cell	CL:0002079	96.12	gold quality
jejunal mucosa	UBERON:0000399	96.10	gold quality
colonic mucosa	UBERON:0000317	94.71	gold quality
endothelial cell	CL:0000115	94.56	gold quality
mucosa of sigmoid colon	UBERON:0004993	94.46	gold quality
jejunum	UBERON:0002115	94.22	gold quality
duodenum	UBERON:0002114	94.15	gold quality
adult mammalian kidney	UBERON:0000082	93.85	gold quality
mucosa of transverse colon	UBERON:0004991	93.65	gold quality
renal medulla	UBERON:0000362	93.30	gold quality
epithelial cell of pancreas	CL:0000083	93.29	gold quality
gingival epithelium	UBERON:0001949	92.29	gold quality
kidney	UBERON:0002113	92.28	gold quality
vastus lateralis	UBERON:0001379	92.23	gold quality
gingiva	UBERON:0001828	91.85	gold quality
penis	UBERON:0000989	91.83	gold quality
liver	UBERON:0002107	91.56	gold quality
adult organism	UBERON:0007023	91.42	gold quality
heart right ventricle	UBERON:0002080	91.22	gold quality
quadriceps femoris	UBERON:0001377	91.21	gold quality
esophagus squamous epithelium	UBERON:0006920	90.88	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	90.61	gold quality
amniotic fluid	UBERON:0000173	90.46	gold quality
body of tongue	UBERON:0011876	90.35	gold quality
superior surface of tongue	UBERON:0007371	90.21	gold quality
tongue	UBERON:0001723	90.01	gold quality
pericardium	UBERON:0002407	89.88	gold quality
biceps brachii	UBERON:0001507	89.76	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-CURD-10	yes	109.84
E-ANND-3	yes	9.33

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

48 targeting FAHD1, 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-6758-5P	100.00	66.21	1470
HSA-MIR-6856-5P	100.00	65.47	1298
HSA-MIR-4673	100.00	66.64	1490
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-539-5P	99.93	70.30	2855
HSA-MIR-12119	99.87	68.35	1653
HSA-MIR-4728-5P	99.85	69.39	4718
HSA-MIR-4739	99.84	65.25	1832
HSA-MIR-1321	99.84	65.30	1811
HSA-MIR-4756-5P	99.84	64.98	1809
HSA-MIR-4420	99.82	70.08	1624
HSA-MIR-6785-5P	99.82	68.68	4428
HSA-MIR-181B-2-3P	99.81	70.06	1646
HSA-MIR-181B-3P	99.81	70.06	1646
HSA-MIR-8076	99.78	68.52	1170
HSA-MIR-4766-5P	99.75	69.23	2662
HSA-MIR-149-3P	99.72	68.22	3963
HSA-MIR-6883-5P	99.69	68.05	3785
HSA-MIR-580-3P	99.67	69.23	1841
HSA-MIR-7152-5P	99.60	69.33	2094
HSA-MIR-486-5P	99.51	70.39	707
HSA-MIR-4708-3P	99.51	67.99	870
HSA-MIR-5683	99.36	68.59	2083
HSA-MIR-584-3P	99.35	67.69	1082
HSA-MIR-548V	99.29	69.47	1157
HSA-MIR-4505	99.27	67.81	2678
HSA-MIR-5787	99.22	67.86	2628
HSA-MIR-4784	99.15	67.41	1733
HSA-MIR-7160-5P	99.11	67.17	2207
HSA-MIR-4324	99.04	70.14	1569

Literature-anchored findings (GeneRIF, showing 8)

• identified mammalian FAHD1 as a novel mitochondrial enzyme with acylpyruvate hydrolase activity. (PMID:21878618)
• Based on molecular modeling and subsequent biochemical investigations, the study identified FAHD1 as a eukaryotic oxaloacetate decarboxylase enzyme. (PMID:25575590)
• we recently identified human FAH domain containing protein-1 (FAHD1) as the first eukaryotic oxaloacetate decarboxylase..these data establish a role of fahd-1 to maintain mitochondrial function and consequently physical activity (PMID:26266933)
• The results indicate that FAHD1 is required for mitochondrial function in human cells and provide additional support to the growing evidence that mitochondrial dysfunction can induce cellular senescence by metabolic alterations independent of the DNA damage response pathway. (PMID:28286170)
• genetic inactivation of FAHD1 in human cells induces a specific form of cellular senescence. (PMID:30055189)
• Data indicate that FAH domain-containing protein 1 (FAHD1) is a mitochondrial protein displaying both acylpyruvate hydrolase (ApH) and oxaloacetate decarboxylase (ODx) activity. (PMID:30348641)
• Structural and functional comparison of fumarylacetoacetate domain containing protein 1 in human and mouse. (PMID:32068790)
• Mitochondrial enzyme FAHD1 reduces ROS in osteosarcoma. (PMID:38649439)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	fahd1	ENSDARG00000031657
mus_musculus	Fahd1	ENSMUSG00000045316
rattus_norvegicus	Fahd1	ENSRNOG00000014727
caenorhabditis_elegans		WBGENE00022798

Paralogs (3): FAH (ENSG00000103876), FAHD2A (ENSG00000115042), FAHD2B (ENSG00000144199)

Protein

Protein identifiers

Oxaloacetate tautomerase FAHD1, mitochondrial — Q6P587 (reviewed: Q6P587)

Alternative names: Acylpyruvase FAHD1, Fumarylacetoacetate hydrolase domain-containing protein 1, Oxaloacetate decarboxylase, YisK-like protein

All UniProt accessions (1): Q6P587

UniProt curated annotations — full annotation on UniProt →

Function. Tautomerase that converts enol-oxaloacetate, a strong inhibitor of succinate dehydrogenase, to the physiological keto form of oxaloacetate. It is thereby required to maximize aerobic respiration efficiency by preventing succinate dehydrogenase inhibition. Also acts as a weak oxaloacetate decarboxylase (ODx), catalyzing the decarboxylation of oxaloacetate (OAA) to pyruvate and CO(2), and as such is likely a regulatory enzyme in the TCA cycle. Also displays acylpyruvase activity, being able to hydrolyze acetylpyruvate and fumarylpyruvate in vitro. Exhibits only a weak hydrolase activity on methylacetopyruvate and acetylacetone, and no activity toward acetoacetyl-CoA.

Subunit / interactions. Homodimer.

Subcellular location. Mitochondrion. Cytoplasm. Cytosol.

Tissue specificity. Ubiquitous (at protein level).

Activity regulation. Oxaloacetate decarboxylation is competitively inhibited by oxalate.

Cofactor. Requires a divalent metal cation for activity. Shows the highest activity in the presence of Mg(2+), followed by Mn(2+), whereas only weak activity is observed in the presence of Ca(2+) and Zn(2+).

Miscellaneous. Produced by alternative initiation. Based on proteomic data.

Similarity. Belongs to the FAH family.

Isoforms (4)

UniProt ID	Names	Canonical?
Q6P587-4	4	yes
Q6P587-1	1
Q6P587-2	2
Q6P587-3	3

RefSeq proteins (3): NP_001018114, NP_001135870, NP_112485* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR011234	Fumarylacetoacetase-like_C	Domain
IPR036663	Fumarylacetoacetase_C_sf	Homologous_superfamily

Pfam: PF01557

Enzyme classification (BRENDA):

• EC 3.7.1.5 — acylpyruvate hydrolase (BRENDA: 8 organisms, 16 substrates, 53 inhibitors, 12 Km, 0 kcat entries)
• EC 4.1.1.112 — oxaloacetate decarboxylase (BRENDA: 26 organisms, 29 substrates, 82 inhibitors, 30 Km, 6 kcat entries)

Substrate kinetics (BRENDA)

10 substrates with measured Km, best-characterized 10. Km ranges are aggregated across organisms/conditions.

Substrate	Km (mM)	Measurements
OXALOACETATE	0.0003–20.7	25
ACETYLPYRUVATE	0.0046–0.0819	6
OXALOACETATE	0.04–0.043	2
2,4-DIOXOHEPTANOATE	0.007	1
2,4-DIOXOHEXANOATE	0.007	1
2,4-DIOXOVALERATE	0.011	1
3-FORMYLPYRUVATE	0.002	1
3-METHYLOXALOACETATE	0.63	1
CO2	1	1
PYRUVATE	3.3	1

Catalyzed reactions (Rhea), 5 shown:

• oxaloacetate + H(+) = pyruvate + CO2 (RHEA:15641)
• oxaloacetate = enol-oxaloacetate (RHEA:16021)
• acetylpyruvate + H2O = acetate + pyruvate + H(+) (RHEA:16097)
• a 3-acylpyruvate + H2O = a carboxylate + pyruvate + H(+) (RHEA:19009)
• 3-fumarylpyruvate + H2O = fumarate + pyruvate + H(+) (RHEA:26168)

UniProt features (47 total): strand 15, helix 11, binding site 6, mutagenesis site 4, modified residue 3, splice variant 3, transit peptide 1, chain 1, sequence variant 1, sequence conflict 1, turn 1

Structure

Experimental structures (PDB)

3 structures.

PDB	Method	Resolution (Å)
6FOH	X-RAY DIFFRACTION	1.56
6FOG	X-RAY DIFFRACTION	1.94
1SAW	X-RAY DIFFRACTION	2.2

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q6P587-F1	95.96	0.91

Functional residue map

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

Ligand- & substrate-binding residues (6): 22; 68; 70; 99; 120; 189

Post-translational modifications (3): 112, 37, 110

Mutagenesis-validated functional residues (4):

Position	Phenotype
27	loss of acetylpyruvate hydrolase activity, while moderate decrease in oxaloacetate decarboxylase activity.
30	loss of acetylpyruvate hydrolase activity, while moderate decrease in oxaloacetate decarboxylase activity.
99–103	loss of oxaloacetate tautomerase, oxaloacetate decarboxylase and acetylpyruvate hydrolase activities.
120	loss of both oxaloacetate decarboxylase and acetylpyruvate hydrolase activity.

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-70268	Pyruvate metabolism

MSigDB gene sets: 124 (showing top): GSE45365_NK_CELL_VS_CD8A_DC_MCMV_INFECTION_DN, GOBP_OXALOACETATE_METABOLIC_PROCESS, GOBP_DICARBOXYLIC_ACID_METABOLIC_PROCESS, WEI_MYCN_TARGETS_WITH_E_BOX, HNF4_DR1_Q3, GOBP_ORGANIC_ACID_METABOLIC_PROCESS, SANSOM_APC_TARGETS_DN, MODULE_95, TGGAAA_NFAT_Q4_01, REACTOME_PYRUVATE_METABOLISM, GOCC_MITOCHONDRIAL_MATRIX, NIKOLSKY_BREAST_CANCER_16P13_AMPLICON, GOMF_CARBOXY_LYASE_ACTIVITY, GOMF_CARBON_CARBON_LYASE_ACTIVITY, GOMF_INTRAMOLECULAR_OXIDOREDUCTASE_ACTIVITY

GO Biological Process (2): oxaloacetate metabolic process (GO:0006107), carboxylic acid metabolic process (GO:0019752)

GO Molecular Function (11): oxaloacetate decarboxylase activity (GO:0008948), acetylpyruvate hydrolase activity (GO:0018773), fumarylpyruvate hydrolase activity (GO:0034545), metal ion binding (GO:0046872), acylpyruvate hydrolase activity (GO:0047621), oxaloacetate tautomerase activity (GO:0050163), catalytic activity (GO:0003824), protein binding (GO:0005515), hydrolase activity (GO:0016787), lyase activity (GO:0016829), isomerase activity (GO:0016853)

GO Cellular Component (5): nucleoplasm (GO:0005654), mitochondrion (GO:0005739), mitochondrial matrix (GO:0005759), cytosol (GO:0005829), cytoplasm (GO:0005737)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
Aerobic respiration and respiratory electron transport	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
hydrolase activity, acting on carbon-carbon bonds, in ketonic substances	3
catalytic activity	3
cellular anatomical structure	3
cytoplasm	2
dicarboxylic acid metabolic process	1
oxoacid metabolic process	1
carboxy-lyase activity	1
cation binding	1
intramolecular oxidoreductase activity, interconverting keto- and enol-groups	1
molecular_function	1
binding	1
nuclear lumen	1
intracellular membrane-bounded organelle	1
mitochondrion	1
intracellular organelle lumen	1
intracellular anatomical structure	1

Protein interactions and networks

STRING

1672 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
FAHD1	FAH	P16930	742
FAHD1	CLUH	O75153	608
FAHD1	PNPT1	Q8TCS8	526
FAHD1	NDUFS6	O75380	522
FAHD1	BRICD5	Q6PL45	506
FAHD1	NUBP2	Q9Y5Y2	479
FAHD1	CPT2	P23786	475
FAHD1	RNF151	Q2KHN1	437
FAHD1	ADM2	Q7Z4H4	412
FAHD1	PC	P11498	411
FAHD1	IDNK	Q5T6J7	395
FAHD1	IL17RC	Q8NAC3	383
FAHD1	CASKIN1	Q8WXD9	368
FAHD1	DNAJC14	Q6Y2X3	359
FAHD1	PHF3	Q92576	347
FAHD1	NT5DC1	Q5TFE4	347

IntAct

18 interactions, top by confidence:

A	B	Type	Score
NDUFS6	NDUFS8	psi-mi:“MI:0914”(association)	0.640
FAHD1	CLUH	psi-mi:“MI:0914”(association)	0.530
FAHD1	rep	psi-mi:“MI:0915”(physical association)	0.370
PLPP1	FAHD1	psi-mi:“MI:0915”(physical association)	0.370
JUN		psi-mi:“MI:0914”(association)	0.350
JUN	TPM3	psi-mi:“MI:0914”(association)	0.350
MME		psi-mi:“MI:0914”(association)	0.350
HSCB	RBP5	psi-mi:“MI:0914”(association)	0.350
K14	MAP2K7	psi-mi:“MI:0914”(association)	0.350
M		psi-mi:“MI:0914”(association)	0.350
SERBP1	UBA6	psi-mi:“MI:0914”(association)	0.350
FAHD1	VWA8	psi-mi:“MI:0914”(association)	0.350
COL10A1	PLOD2	psi-mi:“MI:0914”(association)	0.350
EXOSC4	FAHD1	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (190): UBR3 (Affinity Capture-MS), CPT2 (Affinity Capture-MS), PNPT1 (Affinity Capture-MS), CLUH (Affinity Capture-MS), DHTKD1 (Affinity Capture-MS), FAHD1 (Affinity Capture-MS), FAHD1 (Affinity Capture-MS), FAHD1 (Co-fractionation), FAHD1 (Co-fractionation), FAHD1 (Co-fractionation), FAHD1 (Co-fractionation), FAHD1 (Co-fractionation), FAHD1 (Co-fractionation), FAHD1 (Co-fractionation), FAHD1 (Co-fractionation)

ESM2 similar proteins: A0B3M8, A4JPX9, A6TAC6, A7ZI97, A7ZWZ7, A9ALD1, B1K3Y3, B1LIN5, B1Z1Y2, B2JQV8, B4EKX6, B5Z2Q5, B7L506, B7M2Z8, B7MPB7, B7N8Q7, B7NK05, C1DRI8, F1MLX0, I6Y276, O06724, O86042, P23107, P23149, P42270, P49156, P76004, P77608, Q0B628, Q10B63, Q13VU0, Q1BJJ1, Q1NEI7, Q2KIB0, Q39BA7, Q3Z556, Q47GC8, Q47HM0, Q49KF9, Q5RCX5

Diamond homologs: A0A3G9JYJ6, A0B3M8, A3AJ77, A9ALD1, B1K3Y3, B1Z1Y2, B2RYW9, B4EKX6, F1MLX0, I6Y276, O06724, O28058, O58377, O86042, P34673, P37352, Q0B628, Q0QFQ3, Q10B63, Q1BJJ1, Q1NEI7, Q2FIA7, Q2FZT4, Q2HJ98, Q2KIB0, Q2YWW3, Q39BA7, Q3TC72, Q46978, Q49WA8, Q4L4Y4, Q54BF3, Q59050, Q5HHB6, Q5HQJ3, Q5RCX5, Q5RDW0, Q6AYQ8, Q6GAV8, Q6GIC0

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	3
Likely pathogenic	2
Uncertain significance	59
Likely benign	1
Benign	0

Top pathogenic / likely-pathogenic (5)

Variant ID	HGVS	Classification
2078114	NM_001163560.3(MEIOB):c.1207_1208del (p.Leu403fs)	Pathogenic
2691779	NM_001163560.3(MEIOB):c.1218G>A (p.Thr406=)	Pathogenic
58604	GRCh38/hg38 16p13.3(chr16:1816283-2020966)x3	Pathogenic
2081185	NM_001163560.3(MEIOB):c.1035-1G>A	Likely pathogenic
2691781	NM_001163560.3(MEIOB):c.1072_1073del (p.Met358fs)	Likely pathogenic

SpliceAI

614 predictions. Top by Δscore:

Variant	Effect	Δscore
16:1834363:CGAA:C	acceptor_gain	1.0000
16:1834367:C:CC	acceptor_gain	1.0000
16:1837782:A:AC	donor_gain	1.0000
16:1837783:C:CC	donor_gain	1.0000
16:1837806:T:A	donor_gain	1.0000
16:1839238:T:TA	donor_gain	1.0000
16:1839285:T:TA	donor_gain	1.0000
16:1834362:ACGAA:A	acceptor_gain	0.9900
16:1834363:CGAAC:C	acceptor_gain	0.9900
16:1834365:AACT:A	acceptor_loss	0.9900
16:1834381:A:T	acceptor_gain	0.9900
16:1837802:T:TA	donor_gain	0.9900
16:1839439:C:CC	acceptor_gain	0.9900
16:1834365:AA:A	acceptor_gain	0.9800
16:1834367:C:CG	acceptor_loss	0.9800
16:1834368:T:A	acceptor_loss	0.9800
16:1834364:GAA:G	acceptor_gain	0.9700
16:1834370:C:CT	acceptor_gain	0.9700
16:1834380:C:CT	acceptor_gain	0.9700
16:1839286:C:A	donor_gain	0.9600
16:1834371:G:T	acceptor_gain	0.9500
16:1839239:C:A	donor_gain	0.9400
16:1839434:TGGAA:T	acceptor_gain	0.9400
16:1837779:CTAA:C	donor_gain	0.9300
16:1839438:ACT:A	acceptor_gain	0.9300
16:1839295:C:CT	donor_gain	0.9200
16:1839296:T:TT	donor_gain	0.9200
16:1839440:T:A	acceptor_gain	0.9200
16:1839437:AACTG:A	acceptor_gain	0.9100
16:1839250:TTTA:T	donor_loss	0.9000

AlphaMissense

1468 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
16:1827362:T:C	F45L	0.996
16:1827364:C:A	F45L	0.996
16:1827364:C:G	F45L	0.996
16:1827295:C:G	C22W	0.995
16:1827534:A:T	D102V	0.995
16:1827598:G:C	K123N	0.995
16:1827598:G:T	K123N	0.995
16:1827370:G:C	K47N	0.994
16:1827370:G:T	K47N	0.994
16:1827616:C:G	C129W	0.994
16:1827534:A:C	D102A	0.993
16:1827584:T:A	W119R	0.993
16:1827584:T:C	W119R	0.993
16:1827599:A:C	S124R	0.992
16:1827601:C:A	S124R	0.992
16:1827601:C:G	S124R	0.992
16:1827623:A:C	S132R	0.992
16:1827625:C:A	S132R	0.992
16:1827625:C:G	S132R	0.992
16:1827307:C:A	N26K	0.991
16:1827307:C:G	N26K	0.991
16:1827529:C:G	C100W	0.991
16:1827527:T:C	C100R	0.990
16:1827533:G:C	D102H	0.990
16:1827535:T:A	D102E	0.990
16:1827535:T:G	D102E	0.990
16:1827597:A:T	K123M	0.990
16:1827602:T:C	F125L	0.990
16:1827604:C:A	F125L	0.990
16:1827604:C:G	F125L	0.990

dbSNP variants (sampled 300 via entrez): RS1000004031 (16:1828829 G>A,T), RS1000022022 (16:1836988 C>G), RS1000056645 (16:1828977 C>T), RS1000399477 (16:1832012 A>G), RS1000418949 (16:1832450 C>T), RS1000472736 (16:1838682 T>G), RS1000653945 (16:1837831 C>T), RS1001209037 (16:1832468 G>C), RS1001420799 (16:1835184 G>A), RS1001581234 (16:1832495 A>G,T), RS1001632023 (16:1832719 A>G), RS1001731899 (16:1829971 C>T), RS1002028204 (16:1838394 T>C), RS1002189383 (16:1825788 G>A), RS1002202691 (16:1827134 C>A,G,T)

Disease associations

OMIM: gene MIM:616320 | disease phenotypes: MIM:620686, MIM:617706

GenCC curated gene-disease

Mondo (2): premature ovarian failure 23 (MONDO:0958035), spermatogenic failure 22 (MONDO:0054726)

Orphanet (0):

HPO phenotypes

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

GWAS associations

0 associations (top):

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL4523346 (SINGLE PROTEIN)

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects expression, increases expression	3
sodium arsenite	decreases expression	2
ochratoxin A	decreases expression	2
Acetaminophen	decreases expression	2
Air Pollutants	decreases expression, increases abundance	2
Benzo(a)pyrene	decreases expression, increases methylation	2
Tobacco Smoke Pollution	affects expression, increases expression	2
GSK-J4	decreases expression	1
bisphenol F	increases expression	1
triphenyl phosphate	affects expression	1
bisphenol A	decreases expression	1
trichostatin A	affects expression, decreases reaction	1
perfluorooctanoic acid	increases expression	1
di-n-butylphosphoric acid	affects expression	1
gambierol	decreases expression	1
bisphenol B	increases expression	1
2-methyl-2H-pyrazole-3-carboxylic acid (2-methyl-4-o-tolylazophenyl)amide	decreases expression	1
bisphenol AF	increases expression	1
Sunitinib	increases expression	1
Cadmium	increases expression	1
Carteolol	affects expression	1
Coal	decreases expression, increases abundance	1
Ivermectin	decreases expression	1
Nickel	affects expression, decreases reaction	1
Phenobarbital	affects expression	1
Phthalic Acids	increases methylation	1
Rotenone	decreases expression	1
Smoke	increases abundance, decreases expression	1
Thiram	decreases expression	1
Urethane	decreases expression	1

ChEMBL screening assays

1 unique, capped per target: 1 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL4418435	Binding	Inhibition of wild-type recombinant N-terminal His6 and S-tagged full-length human FAHD1 expressed in Escherichia coli using oxaloacetate as substrate by photometric analysis	Uses of fahd1

Clinical trials (associated diseases)

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