1. Gene
  2. ITGBL1 - integrin subunit beta like 1 Gene

ITGBL1 - integrin subunit beta like 1 Gene

中文名称:整合素亚基 β 样 1

种属: Homo sapiens

同用名: OSCP; TIED

基因 ID: 9358 | 基因类型: protein coding

关于 ITGBL1

Cytogenetic location: 13q33.1 Genomic coordinates (GRCh38): 13:101,452,675-101,723,106 (from NCBI)

This gene has 6 transcripts (splice variants), 197 orthologues and 8 paralogues. Broad expression in gall bladder (RPKM 11.4), lung (RPKM 9.5) and 18 other tissues.

功能概要

该基因编码一种 β 整合素相关蛋白,该蛋白是 EGF 样蛋白家族的一员。编码的蛋白质含有类似整合素的富含半胱氨酸的重复序列。可变剪接导致多个转录本变体。[RefSeq 提供,2012 年 11 月]

This gene encodes a beta integrin-related protein that is a member of the EGF-like protein family. The encoded protein contains integrin-like cysteine-rich repeats. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2012]

ITGBL1 基因产物(4)

mRNA Protein Name
NM_001271754.2 NP_001258683.1 integrin beta-like protein 1 isoform 4
NM_001271755.2 NP_001258684.1 integrin beta-like protein 1 isoform 2 precursor
NM_001271756.2 NP_001258685.1 integrin beta-like protein 1 isoform 3
NM_004791.3 NP_004782.1 integrin beta-like protein 1 isoform 1 precursor

ITGBL1 蛋白结构

EGF_2

EGF_2: EGF-like domain (96 - 126)

EGF_2

EGF_2: EGF-like domain (192 - 216)

EGF_2

EGF_2: EGF-like domain (281 - 310)

EGF_2

EGF_2: EGF-like domain (375 - 398)

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

integrin beta-like protein 1

integrin beta like 1

重组 ITGBL1 蛋白

目录号 产品名 蛋白编号 纯度
HY-P71448 ITGBL1 Protein, Human (Myc, His) O95965 (V24-P494) ≥95%

关联疾病

疾病名称 别名
Myasthenic Syndrome, Congenital, 13

Congenital Myasthenic Syndrome 13

CMS13

Cmsta2

Myasthenic Syndrome, Congenital, With Tubular Aggregates 2

Myasthenic Syndrome, Congenital, 13, With Tubular Aggregates

Congenital Myasthenic Syndrome 13 With Tubular Aggregates

Congenital Myasthenic Syndrome With Tubular Aggregates 2

Myasthenic Syndrome, Congenital, With Tubular Aggregates, 2

Myasthenic Syndrome, Congenital, With Tubular Aggregates, Type 2

Corneal Dystrophy, Posterior Polymorphous, 1

Posterior Polymorphous Corneal Dystrophy

Ppcd

Maumenee Corneal Dystrophy

Posterior Polymorphous Corneal Dystrophy 1

PPCD1

Corneal Dystrophy, Hereditary Polymorphous Posterior

Corneal Endothelial Dystrophy 1, Autosomal Dominant

Schlichting Dystrophy

Ched1

Corneal Endothelial Dystrophy 1, Autosomal Dominant, Formerly

Ched1, Formerly

Hereditary Polymorphus Posterior Corneal Dystrophy

Posterior Polymorphous Dystrophy

Hereditary Polymorphous Posterior Corneal Dystrophy

Dystrophy, Corneal, Posterior Polymorphous

Dystrophy, Corneal, Posterior Polymorphous, Type 1

Polymorphous Corneal Dystrophy

Corneal Endothelial Dystrophy 2

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
Bos taurus ITGBL1 VGNC VGNC:53818
Macaca mulatta ITGBL1 VGNC VGNC:73792
Mus musculus ITGBL1 MGD MGI:2443439
Felis catus ITGBL1 VGNC VGNC:67858
Rattus norvegicus ITGBL1 RGD RGD:1560635
Canis familiaris ITGBL1 VGNC VGNC:42144
Others ITGBL1 NCBI