1. Gene
  2. ITGA8 - integrin subunit alpha 8 Gene

ITGA8 - integrin subunit alpha 8 Gene

中文名称:整合素亚基 alpha 8

种属: Homo sapiens

基因 ID: 8516 | 基因类型: protein coding

关于 ITGA8

Cytogenetic location: 10p13 Genomic coordinates (GRCh38): 10:15,513,954-15,719,922 (from NCBI)

This gene has 3 transcripts (splice variants), 228 orthologues, 17 paralogues and is associated with 3 phenotypes. Broad expression in prostate (RPKM 17.7), lung (RPKM 11.8) and 17 other tissues.

功能概要

整联蛋白是异二聚体跨膜受体蛋白,可介导许多细胞过程,包括细胞粘附、细胞骨架重排和细胞信号通路的激活。整合素由α和β亚基组成。该基因编码异二聚体整合素 alpha8beta1 蛋白的 alpha 8 亚基。编码的蛋白质是一种单程 1 型膜蛋白,包含多个 FG-GAP 重复序列。预计这种重复会折叠成 β 螺旋桨结构。该基因调节间充质细胞向上皮结构的募集,介导细胞间相互作用,并调节感觉和运动神经元的神经突长出。因此,整合素 alpha8beta1 蛋白在伤口愈合和器官发生中起着重要作用。该基因的突变与肾发育不良/发育不全-1 (RHDA1) 和几种慢性肾病动物模型有关。交替剪接导致编码不同异构体的多个转录变体。[RefSeq 提供,2014 年 4 月]

Integrins are heterodimeric transmembrane Receptor Proteins that mediate numerous cellular processes including cell adhesion, cytoskeletal rearrangement, and activation of cell signaling pathways. Integrins are composed of alpha and beta subunits. This gene encodes the alpha 8 subunit of the heterodimeric Integrin alpha8beta1 protein. The encoded protein is a single-pass type 1 membrane protein that contains multiple FG-GAP repeats. This repeat is predicted to fold into a beta propeller structure. This gene regulates the recruitment of mesenchymal cells into epithelial structures, mediates cell-cell interactions, and regulates neurite outgrowth of sensory and motor neurons. The Integrin alpha8beta1 protein thus plays an important role in wound-healing and organogenesis. Mutations in this gene have been associated with renal hypodysplasia/aplasia-1 (RHDA1) and with several animal models of chronic kidney disease. Alternate splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Apr 2014]

ITGA8 基因产物(2)

mRNA Protein Name
NM_001291494.2 NP_001278423.1 integrin alpha-8 isoform 2 preproprotein
NM_003638.3 NP_003629.2 integrin alpha-8 isoform 1 preproprotein
基因本体论
  • 生物过程
  • 细胞组分
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in cell-matrix adhesion IMP
IMP: 通过突变表型推断
24439109 GOA
involved in kidney development IMP
IMP: 通过突变表型推断
24439109 GOA
involved in mesodermal cell differentiation IEP
IEP: 通过表达模式推断
23154389 GOA
involved in substrate adhesion-dependent cell spreading IMP
IMP: 通过突变表型推断
24439109 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in cell surface IDA
IDA: 通过直接分析推断
24439109 GOA
located in endoplasmic reticulum IDA
IDA: 通过直接分析推断
24439109 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

ITGA8 蛋白结构

FG-GAP

FG-GAP: FG-GAP repeat (321 - 363)

Integrin_alpha2

Integrin_alpha2: Integrin alpha (483 - 934)

Integrin_alpha

Integrin_alpha: Integrin alpha cytoplasmic region (1035 - 1049)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 1000
  • 1063 a.a.
蛋白主名 其他名称

integrin alpha-8

integrin, alpha 8

重组 ITGA8 蛋白

目录号 产品名 蛋白编号 纯度
HY-P73869 Integrin alpha 8 beta 1 Protein, Human (HEK293, Flag, His) P53708 (F39-L1012)&P05556-1 (Q21-D728) ≥95%

关联疾病

疾病名称 别名
Renal Hypodysplasia/Aplasia 1

Renal Agenesis

Renal Adysplasia

Renal Aplasia

RHDA1

Hereditary Renal Aplasia

Hra

Hereditary Urogenital Adysplasia

Hypodysplasia/Aplasia, Renal, Type 1

Congenital Absence Of Kidneys Syndrome

Congenital Absence Of Kidney

Aplastic Kidney

Renal Agenesis, Bilateral

Bilateral Renal Agenesis

Bilateral Renal Aplasia
Kidney Disease

Renal Failure

Kidney Failure

Kidney Diseases

Nephropathy

Abnormality Of The Kidney

Impaired Renal Function Disease

Renal Anomaly

Kidney Dysfunction

Renal Disease

Nephropathies

Renal Failure Adverse Event

Abnormal Renal Function

Posterolateral Myocardial Infarction
Bullous Keratopathy

Bk - [Bullous Keratopathy]

Arrhythmogenic Right Ventricular Cardiomyopathy

Arrhythmogenic Right Ventricular Dysplasia

Arvc

Arvd

Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy

Arvc Cardiomyopathy

Arrhythmogenic Right Ventricular Cardiomyopathy-Dysplasia

Arvd/C

Right Ventricular Dysplasia, Arrhythmogenic

Ventricular Dysplasia, Right, Arrhythmogenic

Cardiomyopathy, Ventricular, Right, Arrhythmogenic

Dysplasia, Arrhythmogenic Right Ventricular

Chronic Kidney Disease

Chronic Renal Disease

Chronic Kidney Failure

Ckd

Chronic Renal Failure

Kidney Failure, Chronic

Chronic Renal Failure Syndrome

Crf

Renal Failure - Chronic

Renal Failure Chronic

Chronic Kidney Diseases

Chronic Kidney Disease Stage 5

Ckd - [Chronic Kidney Disease]

Crf - [Chronic Renal Failure]

Chronic Kidney Impairment

Chronic Renal Impairment

Chronic Kidney Shutdown

Chronic Hypoxic Kidney Failure

Chronic Kidney Collapse

Chronic Renal Insufficiency

Chronic Kidney Toxaemia

Chronic Kidney Hypofunction

Chronic Renal Suppression

Chronic Renal Failure, Stage 5

Ckd - [Chronic Kidney Disease] Stage 5

End Stage Kidney Failure

End Stage Renal Failure

End Stage Kidney Disease

End Stage Renal Disease

End Stage Chronic Renal Failure

Esrf - [End Stage Renal Failure]

Esrd - [End Stage Renal Diseases]

Egfr - [Estimated Glomerular Filtration Rate] < 15 Ml/Min/1.73m²

Arrhythmogenic Right Ventricular Dysplasia, Familial, 1

Arrhythmogenic Right Ventricular Dysplasia 1

Uhl Anomaly

Arrhythmogenic Right Ventricular Cardiomyopathy 1

Arvc1

ARVD1

Cardiomyopathy Right Ventricular Dilated

Dysplasia, Arrhythmogenic Right Ventricular, Type 1

Cakut

Renal Or Urinary Tract Malformation

Congenital Anomalies Of Kidney And Urinary Tract

Congenital Anomaly Of Kidney And Urinary Tract

Congenital Anomalies Of The Kidney And Urinary Tract

Kidney And Urinary Tract, Anomalies, Congenital

Renal Hypodysplasia, Nonsyndromic, 1

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
Canis familiaris ITGA8 VGNC VGNC:42130
Mus musculus ITGA8 MGD MGI:109442
Macaca mulatta ITGA8 VGNC VGNC:73782
Felis catus ITGA8 VGNC VGNC:67846
Rattus norvegicus ITGA8 RGD RGD:621634
Bos taurus ITGA8 VGNC VGNC:30319
Others ITGA8 NCBI