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
miRTarBase ID miRNA Experiments Reference
MIRT019743 hsa-miR-375 Microarray 20215506
MIRT049352 hsa-miR-92a-3p CLASH 23622248
MIRT042153 hsa-miR-484 CLASH 23622248
MIRT963647 hsa-miR-1229 CLIP-seq
MIRT963648 hsa-miR-124 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
15
GO ID Ontology Definition Evidence Reference
GO:0000287 Function Magnesium ion binding IEA
GO:0005515 Function Protein binding IPI 28514442, 32296183, 33961781
GO:0005634 Component Nucleus IEA
GO:0005737 Component Cytoplasm IEA
GO:0005829 Component Cytosol TAS
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
HGNC N/A HGNC
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
KQAEEDAHLDGAVPIPAASGNGVDDLQQMIQAVVDNVCWQMSLDRKTTALKQLQGHMWRA
AFTAGRMKAEFFADVVPAVRKWREAGMKVYIYSSGSVEAQKLLFGHSTEGDILELVDGHF
DTKIGHKVESESYRKIADSIGCSTNNILFLTDVTREASAAEEADVHVAVVVRPGNAGLTD
DEKTYYSLITSFSELYLPSST
Sequence length 261
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Cysteine and methionine metabolism
Metabolic pathways
  Methionine salvage pathway
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)
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
ALZHEIMER DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DEMENTIA GWAS catalog
★★☆☆☆
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
Agenesis of corpus callosum Agenesis Of Corpus Callosum BEFREE 16088863, 8826452
★☆☆☆☆
Found in Text Mining only
Glioma Glioma BEFREE 30066900
★☆☆☆☆
Found in Text Mining only
Hydrocephalus Hydrocephalus BEFREE 15662685, 16088863, 8636066
★☆☆☆☆
Found in Text Mining only
Hypoplasia of corpus callosum Hypoplasia Of Corpus Callosum BEFREE 15662685
★☆☆☆☆
Found in Text Mining only
Intellectual Disability Mental retardation BEFREE 8782167, 8826452, 9744477
★☆☆☆☆
Found in Text Mining only
Liver carcinoma Liver carcinoma BEFREE 31281503
★☆☆☆☆
Found in Text Mining only
Malignant Glioma Glioma BEFREE 30066900
★☆☆☆☆
Found in Text Mining only
MASA SYNDROME (disorder) MASA syndrome BEFREE 15662685, 8809896, 8826452
★☆☆☆☆
Found in Text Mining only
Mental Retardation Mental retardation BEFREE 8782167, 8826452, 9744477
★☆☆☆☆
Found in Text Mining only
Thumb in palm deformity Adducted thumbs syndrome BEFREE 16088863, 7762552, 8636066
★☆☆☆☆
Found in Text Mining only