EPN1 (epsin 1)
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Gene
Gene information from NCBI Gene database.
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| Entrez ID | 29924 |
| Gene name | Epsin 1 |
| Gene symbol | EPN1 |
| Synonyms (NCBI Gene) |
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| Chromosome | 19 |
| Chromosome location | 19q13.42 |
| Summary | This gene encodes a member of the epsin protein family. The encoded protein binds clathrin and is involved in the endocytosis of clathrin-coated vesicles. Loss of function of this gene is associated with reduced tumor growth and progression in certain can |
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miRNA
miRNA information provided by mirtarbase database.
168
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Gene ontology (GO)
Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
24
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Other IDs
Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
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Protein
Protein information from UniProt database.
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UniProt ID
Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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Q9Y6I3 | ||||||||||
| Protein name | Epsin-1 (EH domain-binding mitotic phosphoprotein) (EPS-15-interacting protein 1) | ||||||||||
| Protein function | Binds to membranes enriched in phosphatidylinositol 4,5-bisphosphate (PtdIns(4,5)P2). Modifies membrane curvature and facilitates the formation of clathrin-coated invaginations (By similarity). Regulates receptor-mediated endocytosis (PubMed:103 | ||||||||||
| PDB | 1INZ , 1KYD | ||||||||||
| Family and domains |
Pfam
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| Sequence |
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| Sequence length | 576 | ||||||||||
| Interactions | View interactions | ||||||||||
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Pathways
Pathway information has different metabolic/signaling pathways associated with genes.
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Associated diseases
Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
3
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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)
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