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  2. EPHA1 - EPH receptor A1 Gene

EPHA1 - EPH receptor A1 Gene

中文名称:EPH 受体 A1

种属: Homo sapiens

同用名: EPH; EPHT; EPHT1

基因 ID: 2041 | 基因类型: protein coding

关于 EPHA1

Cytogenetic location: 7q34-q35 Genomic coordinates (GRCh38): 7:143,391,129-143,408,856 (from NCBI)

This gene has 7 transcripts (splice variants), 1 gene allele, 124 orthologues and 53 paralogues. Ubiquitous expression in esophagus (RPKM 21.6), skin (RPKM 11.4) and 25 other tissues.

功能概要

该基因属于蛋白酪氨酸激酶家族的肝配蛋白受体亚家族。 EPH 和 EPH 相关受体与介导发育事件有关,特别是在神经系统中。 EPH 亚家族中的受体通常具有单个激酶结构域和一个含有富含半胱氨酸结构域和 2 个纤连蛋白 III 型重复序列的胞外区域。基于肝配蛋白受体胞外结构域序列的相似性及其结合肝配蛋白-A 和肝配蛋白-B 配体的亲和力,肝配蛋白受体分为 2 组。该基因在一些人类癌细胞系中表达,并与致癌作用有关。[RefSeq 提供,2008 年 7 月]

This gene belongs to the Ephrin Receptor subfamily of the protein-tyrosine kinase family. EPH and EPH-related receptors have been implicated in mediating developmental events, particularly in the nervous system. Receptors in the EPH subfamily typically have a single kinase domain and an extracellular region containing a Cys-rich domain and 2 fibronectin type III repeats. The ephrin receptors are divided into 2 groups based on the similarity of their extracellular domain sequences and their affinities for binding ephrin-A and ephrin-B ligands. This gene is expressed in some human Cancer cell lines and has been implicated in carcinogenesis. [provided by RefSeq, Jul 2008]

EPHA1 基因产物(1)

mRNA Protein Name
NM_005232.5 NP_005223.4 ephrin type-A receptor 1 precursor

EPHA1 蛋白结构

Ephrin_lbd

Ephrin_lbd: Ephrin receptor ligand binding domain (27 - 204)

fn3

fn3: Fibronectin type III domain (334 - 428)

fn3

fn3: Fibronectin type III domain (455 - 528)

EphA2_TM

EphA2_TM: Ephrin type-A receptor 2 transmembrane domain (550 - 621)

Pkinase_Tyr

Pkinase_Tyr: Protein tyrosine kinase (626 - 880)

SAM_1

SAM_1: SAM domain (Sterile alpha motif) (914 - 975)

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  • 976 a.a.
蛋白主名 其他名称

ephrin type-A receptor 1

eph tyrosine kinase 1

重组 EPHA1 蛋白

目录号 产品名 蛋白编号 纯度
HY-P70321 EphA1 Protein, Human (HEK293, His) AAI30292.1 (K26-E547) ≥95%
HY-P75242 EphA1 Protein, Human (HEK293, hFc) EAL23789.1 (K26-E547) ≥95%

关联疾病

疾病名称 别名
Craniofrontonasal Syndrome

Craniofrontonasal Dysplasia

CFNS

Cfnd

Craniofrontonasal Dysostosis

Craniofrontonasal Dystosis

Dysplasia, Craniofrontonasal

Liver Carcinoma In Situ

Carcinoma In Situ Of Liver And Biliary System

Carcinoma In Situ Of Liver, Gallbladder And Bile Ducts

Retinitis Pigmentosa 18

RP18

Retinitis Pigmentosa-18

Retinitis Pigmentosa, Type 18

Alzheimer Disease 4

AD4

Alzheimer Disease-4

Alzheimer'S Disease 4

Alzheimer Disease, Familial, 4

Alzheimer Disease, Familial4

Alzheimer'S Disease 4, Early Onset

Alzheimer Disease, Type 4

Colorectal Cancer

Colon Cancer

Colorectal Carcinoma

Colon Carcinoma

Colorectal Cancer, Susceptibility To

Carcinoma Of Colon

CRC

Colorectal Cancer With Chromosomal Instability, Somatic

Colon Cancer, Somatic

Colon Cancer, Susceptibility To

Colonic Neoplasms

Colorectal Neoplasms

Colorectal Cancer, Somatic

Colon Cancer, Advanced, Somatic

Colonic Carcinoma

Colorectal Carcinomas

Colon Cancers

Colorectal Cancers

Cancer, Colorectal, Somatic

Cancer, Colon

Cancer, Colorectal, Susceptibility To

Colorectal Neoplasm

Colonic Neoplasm

Malignant Tumor Of Colon

Leukodystrophy, Hypomyelinating, 5

Hypomyelination And Congenital Cataract

HLD5

Hypomyelination-Congenital Cataract Syndrome

Hypomyelinating Leukodystrophy 5

Hcc

Hypomyelination And Congenital Cataract: Hcc

Hypomyelination - Congenital Cataract

Hypomyelination With Congenital Cataract

Saethre-Chotzen Syndrome

SCS

Acs3

Acs Iii

Chotzen Syndrome

Acrocephaly, Skull Asymmetry, And Mild Syndactyly

Acrocephalosyndactyly Type 3

Acrocephalosyndactyly, Type Iii

Acrocephalosyndactyly Type Iii

Saethre-Chotzen Syndrome With Or Without Eyelid Anomalies

Auralcephalosyndactyly

Acs 3

Acrocephalo-Syndactyly, Type 3

Blepharophimosis,Epicanthus Inversus, And Ptosis 3

Aural Cephalosyndactyly

Kurczynski-Casperson Syndrome

Acrocephalosyndactyly Iii

Dysostosis Craniofacialis With Hypertelorism

Saethre-Chotzen Syndrome, With/Without Eyelid Anomalies

Sakati Syndrome

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
Rattus norvegicus EPHA1 RGD RGD:1304680
Bos taurus EPHA1 VGNC VGNC:28532
Canis familiaris EPHA1 VGNC VGNC:40404
Felis catus EPHA1 VGNC VGNC:61901
Macaca mulatta EPHA1 VGNC VGNC:108400
Mus musculus EPHA1 MGD MGI:107381
Macaca fascicularis EPHA1 NCBI NCBI:102123244
Others EPHA1 NCBI