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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 Show/Hide all (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 Show/Hide all (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 Pathway Reactome Pathway
Cysteine and methionine metabolism Methionine salvage pathway
Metabolic pathways  
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 Reference Evidence Score
ALZHEIMER DISEASE — GWAS catalog 40708016
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DEMENTIA — GWAS catalog 40708016
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Show/Hide Text Mining Associations (11)
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