EPN1 - epsin 1 Gene

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 29924

About EPN1

Cytogenetic location: 19q13.42 Genomic coordinates (GRCh38): 19:55,675,226-55,709,533 (from NCBI)

This gene has 7 transcripts (splice variants), 258 orthologues and 5 paralogues. Ubiquitous expression in duodenum (RPKM 31.4), stomach (RPKM 31.2) and 25 other tissues.

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 Cancer types. [provided by RefSeq, Mar 2016]

EPN1 Products (4)

mRNA Protein Name
NM_001130071.2 NP_001123543.1 epsin-1 isoform a
NM_001130072.2 NP_001123544.1 epsin-1 isoform b
NM_001321263.2 NP_001308192.1 epsin-1 isoform d
NM_013333.4 NP_037465.2 epsin-1 isoform c
Molecular Function GO Annotation Evidence References Source
enables molecular sequestering activity EXP
EXP: Inferred from Experiment
11161217 GOA
enables molecular sequestering activity IPI
IPI: Inferred from physical interaction
11161217 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
18199683 GOA
Biological Process GO Annotation Evidence References Source
involved in negative regulation of sprouting angiogenesis IGI
IGI: Inferred from genetic interaction
28717225 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

EPN1 Protein Structure

ENTH

ENTH: ENTH domain (17 - 140)

UIM

UIM: Ubiquitin interaction motif (183 - 199)

UIM

UIM: Ubiquitin interaction motif (208 - 224)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 500
  • 576 a.a.
Protein Preferred Names Protein Names

epsin-1

  • EH domain-binding mitotic phosphoprotein

EPN1 Antibodies

Cat. No. Product Name Application Reactivity
HY-P83033 Epsin 1 Antibody (YA2778) WB, ICC/IF Human, Mouse, Rat
HY-P83033A Epsin 1 Antibody (YA2778)(PBS only) WB, ICC/IF Human, Mouse, Rat

Related Diseases

Diseases Alias
Adult Spinal Cord Ependymoma
Erythrocytosis, Familial, 1
  • ECYT1

  • Pfcp

  • Primary Familial And Congenital Polycythemia

  • Familial Erythrocytosis 1

  • Familial Erythrocytosis

  • Polycythemia, Primary Familial And Congenital

  • Autosomal Dominant Benign Erythrocytosis

  • Familial Erythrocytosis Type 1

  • Congenital Erythrocytosis Due To Erythropoietin Receptor Mutation

  • Congenital Polycythemia Due To Erythropoietin Receptor Mutation

  • Primary Congenital Erythrocytosis

  • Primary Familial Polycythemia

  • Erythrocytosis, Autosomal Dominant Benign

  • Erythrocytosis, Somatic

  • Autosomal Dominant Familial Erythrocytosis-1

  • Erythrocytosis Autosomal Dominant Benign

  • Familial Primary Polycythemia

  • Familial Erythrocytosis, 1

  • Erythrocytosis, Familial, Type 1

Hypercholesterolemia, Familial, 4
  • Hypercholesterolemia, Autosomal Recessive

  • Arh

  • FHCL4

  • Autosomal Recessive Hypercholesterolemia

  • Arh1

  • Arh2

  • Autosomal Recessive Hypercholesterolemia 1

  • Autosomal Recessive Hypercholesterolemia 2

  • Fhcb1

  • Fhcb2

  • Hypercholesterolemia, Autosomal Recessive, 1, Formerly

  • Arh1, Formerly

  • Fhcb1, Formerly

  • Hypercholesterolemia, Autosomal Recessive, 2, Formerly

  • Arh2, Formerly

  • Fhcb2, Formerly

  • Familial Autosomal Recessive Hypercholesterolemia

  • Hypercholesterolemia, Familial, Autosomal Recessive

  • Hypercholesterolemia, Familial, Type 4

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
Mus musculus EPN1 MGD MGI:1333763
Bos taurus EPN1 VGNC VGNC:28546
Felis catus EPN1 VGNC VGNC:61912
Rattus norvegicus EPN1 RGD RGD:619772
Macaca mulatta EPN1 VGNC VGNC:72084
Canis familiaris EPN1 VGNC VGNC:40419
Others EPN1 NCBI