ENOPH1 (enolase-phosphatase 1)
|
Gene
Gene information from NCBI Gene database.
|
|
| Entrez ID | 58478 |
| Gene name | Enolase-phosphatase 1 |
| Gene symbol | ENOPH1 |
| Synonyms (NCBI Gene) |
E1MASAMST145mtnC
|
| Chromosome | 4 |
| Chromosome location | 4q21.22 |
|
miRNA
miRNA information provided by mirtarbase database.
265
|
|||||||||||||||||||||||||
|
|||||||||||||||||||||||||
|
Gene ontology (GO)
Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
15
|
|||||||||||||||||||||||||||||||
|
|||||||||||||||||||||||||||||||
|
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.
|
Q9UHY7 |
| Protein name | Enolase-phosphatase E1 (EC 3.1.3.77) (2,3-diketo-5-methylthio-1-phosphopentane phosphatase) (MASA homolog) |
| Protein function | Bifunctional enzyme that catalyzes the enolization of 2,3-diketo-5-methylthiopentyl-1-phosphate (DK-MTP-1-P) into the intermediate 2-hydroxy-3-keto-5-methylthiopentenyl-1-phosphate (HK-MTPenyl-1-P), which is then dephosphorylated to form the aci |
| PDB | 1YNS , 1ZS9 |
| Family and domains | |
| Sequence |
MVVLSVPAEVTVILLDIEGTTTPIAFVKDILFPYIEENVKEYLQTHWEEEECQQDVSLLR |
| Sequence length | 261 |
| 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.).
2
|
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|
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)
|
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|
Related Genes
Genes most often co-reported with ENOPH1 across shared curated disease and pathway associations.
3
|
|
|
Diseases Linked via Similar Genes
Diseases curated for genes most similar to ENOPH1 (see Related Genes above), that are NOT already directly curated for ENOPH1 itself -- a lead worth checking, not a confirmed association.
5
|
|