1. Gene
  2. EPN1 - epsin 1 Gene

EPN1 - epsin 1 Gene

中文名称:epsin 1

种属: Homo sapiens

基因 ID: 29924 | 基因类型: protein coding

关于 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.

功能概要

该基因编码 epsin 蛋白家族的一个成员。编码的蛋白质结合网格蛋白并参与网格蛋白包被的囊泡的内吞作用。该基因功能的丧失与某些癌症类型的肿瘤生长和进展减少有关。[RefSeq 提供,2016 年 3 月]

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 基因产物(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
基因本体论
  • 分子功能
  • 生物过程
分子功能 GO 注释 逻辑证据 参考文献 来源
enables molecular sequestering activity EXP
EXP: 通过实验结果推断
11161217 GOA
enables molecular sequestering activity IPI
IPI: 通过物理相互作用推断
11161217 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
18199683 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in negative regulation of sprouting angiogenesis IGI
IGI: 通过遗传相互作用推断
28717225 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断

EPN1 蛋白结构

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.
蛋白主名 其他名称

epsin-1

EH domain-binding mitotic phosphoprotein

EPN1 抗体

目录号 产品名 应用 反应物种
HY-P83033 Epsin 1 Antibody (YA2778) WB Human, Mouse, Rat

关联疾病

疾病名称 别名
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

疾病名称 别名
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

直系同源

种属 基因名 来源 基因 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