EPN1 - epsin 1 Gene

Homo sapiens

Gene ID: 29924 | Gene type: protein coding

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

EPN1 Protein Structure

ENTH

UIM

0
100
200
300
400
500
576 a.a.

Protein Preferred Names

Protein Names

epsin-1

EH domain-binding mitotic phosphoprotein

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

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS04443	EPN1 Human Pre-designed siRNA Set A		/	Unkown

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