FAHD1 (fumarylacetoacetate hydrolase domain containing 1)
|
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
|
|||||||||||||||||||||||||
|
|||||||||||||||||||||||||
|
Gene ontology (GO)
Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
27
|
|||||||||||||||||||||||||||||||
|
|||||||||||||||||||||||||||||||
|
Other IDs
Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
|
|||||||
|
|||||||
|
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
|
||||||||||
| 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.
|
|||||||||
|
|||||||||
|
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)
|
|||||||||||||||||||||||||
|
|||||||||||||||||||||||||
|
|||||||||||||||||||||||||