Gene Gene information from NCBI Gene database.
Entrez ID 81889
Gene name Fumarylacetoacetate hydrolase domain containing 1
Gene symbol FAHD1
Synonyms (NCBI Gene)
C16orf36ODxYISKL
Chromosome 16
Chromosome location 16p13.3
miRNA miRNA information provided by mirtarbase database.
431
miRTarBase ID miRNA Experiments Reference
MIRT028538 hsa-miR-30a-5p Proteomics 18668040
MIRT709095 hsa-miR-106a-5p HITS-CLIP 19536157
MIRT709094 hsa-miR-106b-5p HITS-CLIP 19536157
MIRT709093 hsa-miR-17-5p HITS-CLIP 19536157
MIRT709092 hsa-miR-20a-5p HITS-CLIP 19536157
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
27
GO ID Ontology Definition Evidence Reference
GO:0003824 Function Catalytic activity IEA
GO:0005515 Function Protein binding IPI 32296183, 32814053
GO:0005654 Component Nucleoplasm IDA
GO:0005737 Component Cytoplasm IEA
GO:0005739 Component Mitochondrion HTP 34800366
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
616320 14169 ENSG00000180185
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q6P587
Protein name Oxaloacetate tautomerase FAHD1, mitochondrial (EC 5.3.2.2) (Acylpyruvase FAHD1) (EC 3.7.1.5) (Fumarylacetoacetate hydrolase domain-containing protein 1) (FAH domain-containing protein 1) (Oxaloacetate decarboxylase) (OAA decarboxylase) (ODx) (EC 4.1.1.112
Protein function Tautomerase that converts enol-oxaloacetate, a strong inhibitor of succinate dehydrogenase, to the physiological keto form of oxaloacetate (PubMed:38287013). It is thereby required to maximize aerobic respiration efficiency by preventing succina
PDB 1SAW , 6FOG , 6FOH
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01557 FAA_hydrolase 19 220 Fumarylacetoacetate (FAA) hydrolase family Family
Tissue specificity TISSUE SPECIFICITY: Ubiquitous (at protein level). {ECO:0000269|PubMed:21878618}.
Sequence
Sequence length 224
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Tyrosine metabolism
Metabolic pathways
  Citric acid cycle (TCA cycle)
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
4
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
AZOOSPERMIA Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
LIVER CIRRHOSIS, EXPERIMENTAL CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
PREMATURE OVARIAN FAILURE 23 Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
SPERMATOGENIC FAILURE 22 Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Mitochondrial Diseases Mitochondrial disease Pubtator 33804275 Associate
★☆☆☆☆
Found in Text Mining only
Optic Atrophy Hereditary Leber Leber hereditary optic neuropathy Pubtator 36233195 Associate
★☆☆☆☆
Found in Text Mining only