1. Gene
  2. ENAH - ENAH actin regulator Gene

ENAH - ENAH actin regulator Gene

中文名称:ENAH 肌动蛋白调节因子

种属: Homo sapiens

同用名: ENA; MENA; NDPP1

基因 ID: 55740 | 基因类型: protein coding

关于 ENAH

Cytogenetic location: 1q42.12 Genomic coordinates (GRCh38): 1:225,486,829-225,653,878 (from NCBI)

This gene has 10 transcripts (splice variants), 234 orthologues and 5 paralogues. Ubiquitous expression in gall bladder (RPKM 8.3), prostate (RPKM 7.8) and 24 other tissues.

功能概要

该基因编码启用/血管扩张剂刺激的磷蛋白的成员。该基因家族的成员参与基于肌动蛋白的运动。这种蛋白质参与调节肌动蛋白丝的组装并调节细胞粘附和运动。该基因的交替剪接变体与某些组织中的肿瘤侵袭性相关,这些变体可作为预后标志物。在 3 号染色体上发现了该基因的假基因。[RefSeq 提供,2016 年 9 月]

This gene encodes a member of the enabled/ vasodilator-stimulated phosphoprotein. Members of this gene family are involved in actin-based motility. This protein is involved in regulating the assembly of actin filaments and modulates cell adhesion and motility. Alternate splice variants of this gene have been correlated with tumor invasiveness in certain tissues and these variants may serve as prognostic markers. A pseudogene of this gene is found on chromosome 3. [provided by RefSeq, Sep 2016]

ENAH 基因产物(5)

mRNA Protein Name
NM_001008493.3 NP_001008493.1 protein enabled homolog isoform a
NM_001377481.1 NP_001364410.1 protein enabled homolog isoform c
NM_001377482.1 NP_001364411.1 protein enabled homolog isoform d
NM_001377483.1 NP_001364412.1 protein enabled homolog isoform e
NM_018212.6 NP_060682.2 protein enabled homolog isoform b
基因本体论
  • 分子功能
分子功能 GO 注释 逻辑证据 参考文献 来源
enables WW domain binding IPI
IPI: 通过物理相互作用推断
17686488 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
10801818 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

ENAH 蛋白结构

WH1

WH1: WH1 domain (4 - 107)

VASP_tetra

VASP_tetra: VASP tetramerisation domain (551 - 590)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 500
  • 591 a.a.
蛋白主名 其他名称

protein enabled homolog

Mena delta 11a

ENAH 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
Intra ENAH Q8N8S7 FAT1 Homo sapiens Q14517
ELISA
16979624
Intra ENAH Q8N8S7 TERF2IP Homo sapiens Q9NYB0
Pull Down
21044950
Intra ENAH Q8N8S7 TERF2IP Homo sapiens Q9NYB0
BiFC
21044950
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
Gastric Papillary Adenocarcinoma

Papillary Adenocarcinoma Of Stomach

Retinitis Pigmentosa 54

RP54

Retinitis Pigmentosa, Type 54

Gastric Tubular Adenocarcinoma

Tubular Adenocarcinoma Of Stomach

Valproate Embryopathy

Fetal Valproate Syndrome

Fetal Valproic Acid Syndrome

Fvs

Valproic Acid Embryopathy

Fetal Valproate Spectrum Disorder

Valproate Embryopathy, Susceptibility To

Foetal Valproate Syndrome

Foetal Valproic Acid Syndrome

Susceptibility To Valproate Embryopathy

Valproic Acid Antenatal Infection

Breast Cancer

Breast Carcinoma

Male Breast Cancer

Breast Cancer, Familial

Malignant Neoplasm Of Breast

Breast Cancer, Susceptibility To

Breast Cancer, Early-Onset

Malignant Tumor Of Breast

Carcinoma Of Male Breast

Breast Cancer, Invasive Ductal

Breast Cancer, Protection Against

Breast Cancer, Somatic

Breast Cancer, Male

Breast Cancer, Lobular, Somatic

Breast Tumor

Mammary Cancer

Mammary Tumor

Malignant Neoplasm Of Male Breast

Mammary Carcinoma

Male Breast Carcinoma

Familial Cancer Of Breast

Invasive Ductal Breast Carcinoma

Breast Cancer Susceptibility

Breast Cancer, Male, Susceptibility To

Breast Cancer, Early-Onset, Susceptibility To

Malignant Tumor Of The Breast

Mammary Neoplasm

Primary Breast Cancer

Neoplasm Of Male Breast

Carcinoma Of Breast

Breast Cancer In Men

Familial Breast Cancer

Cancer Of Breast

BC

Breast Cancer Familial

Breast Cancer Familial Male

Breast Cancer, Familial Male

Breast Male Carcinoma

Breast Neoplasms

Breast Neoplasms, Male

Mammary Tumors

Mammary Carcinomas

Cancer, Breast

Cancer, Breast, Susceptibility

Invasive Breast Ductal Carcinoma

Breast Neoplasm

Susceptibility To Breast Cancer

Mammary Neoplasms

Animal Mammary Neoplasms

Primary Malignant Neoplasm Of Breast

Infiltrating Ductal Carcinoma Of Breast

Infiltrating Duct Carcinoma Of Unspecified Site

Infiltrating Ductular Carcinoma Of Unspecified Site

Invasive Breast Carcinoma Of No Special Type

Microinvasive Carcinoma Of Breast

Carcinoma With Apocrine Differentiation

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
Felis catus ENAH VGNC VGNC:61855
Canis familiaris ENAH VGNC VGNC:40357
Rattus norvegicus ENAH RGD RGD:1307666
Macaca mulatta ENAH VGNC VGNC:99903
Bos taurus ENAH VGNC VGNC:59333
Mus musculus ENAH MGD MGI:108360