EPN3 - epsin 3 Gene

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 55040

About EPN3

Cytogenetic location: 17q21.33 Genomic coordinates (GRCh38): 17:50,532,735-50,543,750 (from NCBI)

This gene has 17 transcripts (splice variants), 250 orthologues and 5 paralogues. Broad expression in stomach (RPKM 11.8), esophagus (RPKM 7.2) and 16 other tissues.

Summary

Predicted to enable clathrin binding activity and phospholipid binding activity. Predicted to be involved in endocytosis. Located in clathrin-coated vesicle; nucleoplasm; and perinuclear region of cytoplasm. Is extrinsic component of plasma membrane. [provided by Alliance of Genome Resources, Apr 2022]

EPN3 Products (1)

mRNA Protein Name
NM_017957.3 NP_060427.2 epsin-3
Molecular Function GO Annotation Evidence References Source
enables protein binding IPI
IPI: Inferred from physical interaction
20709745 GOA
Cellular Component GO Annotation Evidence References Source
located in clathrin-coated vesicle IDA
IDA: Inferred from direct assay
11359770 GOA
located in cytoplasmic side of plasma membrane IDA
IDA: Inferred from direct assay
20709745 GOA
located in nucleus IDA
IDA: Inferred from direct assay
11359770 GOA
located in perinuclear region of cytoplasm IDA
IDA: Inferred from direct assay
11359770 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

EPN3 Protein Structure

ENTH

ENTH: ENTH domain (17 - 140)

UIM

UIM: Ubiquitin interaction motif (209 - 225)

UIM

UIM: Ubiquitin interaction motif (236 - 252)

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  • 632 a.a.
Protein Preferred Names Protein Names

epsin-3

  • EPS-15-interacting protein 3

Related Diseases

Diseases Alias
Adult Spinal Cord Ependymoma
Brain Ependymoma
  • Ependymal Tumor Of Brain

  • Ependymoma Of Brain

Deafness, Autosomal Dominant 28
  • DFNA28

  • Autosomal Dominant Nonsyndromic Deafness 28

  • Autosomal Dominant Deafness 28

  • Deafness, Autosomal Dominant, 28

  • Non-Syndromic Neurosensory Deafness Autosomal Dominant Type 28

  • Non-Syndromic Sensorineural Deafness Autosomal Dominant Type 28

  • Deafness, Autosomal Dominant, Type 28

Basal Cell Carcinoma
  • Basal Cell Cancer

  • Basal Cell Neoplasm

  • Basal Cell Carcinoma Of Skin

  • Malignant Basal Cell Tumor

  • Basal Cell Tumor

  • Epithelioma Basal Cell

  • Malignant Basal Cell Neoplasm

  • Rodent Ulcer

  • Carcinoma Basal Cell

  • Neoplasms, Basal Cell

  • Basal Cell Carcinomas

  • Experimental Organism Basal Cell Carcinoma

  • Nodulo-Ulcerative Basal Cell Carcinoma

  • Basalioma

  • Basal Cell Epithelioma Of Skin

  • Bcc - [Basal Cell Carcinoma] Of Skin

  • Rodent Ulcer Of Skin

  • Rodent Ulcer Of Unspecified Site

  • Basal Cell Epithelioma Of Unspecified Site

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Rattus norvegicus EPN3 RGD RGD:1306416
Bos taurus EPN3 VGNC VGNC:28548
Felis catus EPN3 VGNC VGNC:61914
Mus musculus EPN3 MGD MGI:1919139
Macaca mulatta EPN3 VGNC VGNC:72068
Canis familiaris EPN3 VGNC VGNC:40421
Others EPN3 NCBI