Gene Gene information from NCBI Gene database.
Entrez ID 29924
Gene name Epsin 1
Gene symbol EPN1
Synonyms (NCBI Gene)
-
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
miRNA miRNA information provided by mirtarbase database.
168
miRTarBase ID miRNA Experiments Reference
MIRT038071 hsa-miR-423-5p CLASH 23622248
MIRT037415 hsa-miR-744-5p CLASH 23622248
MIRT484347 hsa-miR-6784-5p PAR-CLIP 24398324
MIRT484348 hsa-miR-6777-5p PAR-CLIP 24398324
MIRT484346 hsa-miR-6889-5p PAR-CLIP 24398324
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
24
GO ID Ontology Definition Evidence Reference
GO:0001701 Process In utero embryonic development IEA
GO:0005515 Function Protein binding IPI 18199683, 18200045, 25036637, 25416956, 32296183, 33961781, 34927784, 35044719, 35271311
GO:0005543 Function Phospholipid binding IBA
GO:0005634 Component Nucleus IEA
GO:0005737 Component Cytoplasm IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
607262 21604 ENSG00000063245
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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

Accession ID Position in sequence Description Type
PF01417 ENTH 17 140 ENTH domain Domain
Sequence
MSTSSLRRQMKNIVHNYSEAEIKVREATSNDPWGPSSSLMSEIADLTYNVVAFSEIMSMI
WKRLNDHGKNWRHVYKAMTLMEYLIKTGSERVSQQCKENMYAVQTLKDFQYVDRDGKDQG
VNVREKAKQLVALLRDEDRL
REERAHALKTKEKLAQTATASSAAVGSGPPPEAEQAWPQS
SGEEELQLQLALAMSKEEADQPPSCGPEDDAQLQLALSLSREEHDKEERIRRGDDLRLQM
AIEESKRETGGKEESSLMDLADVFTAPAPAPTTDPWGGPAPMAAAVPTAAPTSDPWGGPP
VPPAADPWGGPAPTPASGDPWRPAAPAGPSVDPWGGTPAPAAGEGPTPDPWGSSDGGVPV
SGPSASDPWTPAPAFSDPWGGSPAKPSTNGTTAAGGFDTEPDEFSDFDRLRTALPTSGSS
AGELELLAGEVPARSPGAFDMSGVRGSLAEAVGSPPPAATPTPTPPTRKTPESFLGPNAA
LVDLDSLVSRPGPTPPGAKASNPFLPGGGPATGPSVTNPFQPAPPATLTLNQLRLSPVPP
VPGAPPTYISPLGGGPGLPPMMPPGPPAPNTNPFLL
Sequence length 576
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Endocytosis   EGFR downregulation
Cargo recognition for clathrin-mediated endocytosis
Clathrin-mediated endocytosis
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
3
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
INSOMNIA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Sarcoma Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1 Uncertain significance ClinVar
★★☆☆☆
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
Malignant Neoplasms Malignant Neoplasm BEFREE 23187125
★☆☆☆☆
Found in Text Mining only
Neoplasms Neoplasms BEFREE 23187125
★☆☆☆☆
Found in Text Mining only