1. Gene
  2. ITGB1BP1 - integrin subunit beta 1 binding protein 1 Gene

ITGB1BP1 - integrin subunit beta 1 binding protein 1 Gene

中文名称:整合素亚基 β 1 结合蛋白 1

种属: Homo sapiens

同用名: ICAP1; ICAP1A; ICAP1B; ICAP-1A; ICAP-1B; ICAP-1alpha

基因 ID: 9270 | 基因类型: protein coding

关于 ITGB1BP1

Cytogenetic location: 2p25.1 Genomic coordinates (GRCh38): 2:9,403,475-9,423,569 (from NCBI)

This gene has 21 transcripts (splice variants) and 217 orthologues. Broad expression in fat (RPKM 65.6), brain (RPKM 11.2) and 22 other tissues.

功能概要

整合素的细胞质结构域对细胞粘附至关重要。由该基因编码的蛋白质与 beta1 整合素胞质结构域结合。这种蛋白质和 beta1 整合素之间的相互作用是高度特异性的。这种蛋白质的两种同种型来源于可变剪接的转录物。这种蛋白质的较短形式不与 beta1 整合素细胞质结构域相互作用。较长的形式是磷蛋白,其磷酸化程度受细胞-基质相互作用的调节,表明该蛋白在整合素依赖性细胞粘附过程中的重要作用。已经发现该基因的几种转录变体,一些是蛋白质编码的,一些是非蛋白质编码的。[RefSeq 提供,2016 年 1 月]

The cytoplasmic domains of integrins are essential for cell adhesion. The protein encoded by this gene binds to the beta1 Integrin cytoplasmic domain. The interaction between this protein and beta1 Integrin is highly specific. Two isoforms of this protein are derived from alternatively spliced transcripts. The shorter form of this protein does not interact with the beta1 Integrin cytoplasmic domain. The longer form is a phosphoprotein and the extent of its phosphorylation is regulated by the cell-matrix interaction, suggesting an important role of this protein during integrin-dependent cell adhesion. Several transcript variants, some protein-coding and some non-protein coding, have been found for this gene. [provided by RefSeq, Jan 2016]

ITGB1BP1 基因产物(14)

mRNA Protein Name
NM_001319066.2 NP_001305995.1 integrin beta-1-binding protein 1 isoform 1
NM_001319067.2 NP_001305996.1 integrin beta-1-binding protein 1 isoform 1
NM_001319068.2 NP_001305997.1 integrin beta-1-binding protein 1 isoform 1
NM_001319069.2 NP_001305998.1 integrin beta-1-binding protein 1 isoform 3
NM_001319070.2 NP_001305999.1 integrin beta-1-binding protein 1 isoform 4
NM_001369744.1 NP_001356673.1 integrin beta-1-binding protein 1 isoform 1
NM_001369745.1 NP_001356674.1 integrin beta-1-binding protein 1 isoform 1
NM_001369746.1 NP_001356675.1 integrin beta-1-binding protein 1 isoform 1
NM_001369747.1 NP_001356676.1 integrin beta-1-binding protein 1 isoform 2
NM_001369748.1 NP_001356677.1 integrin beta-1-binding protein 1 isoform 1
NM_001369749.2 NP_001356678.1 integrin beta-1-binding protein 1 isoform 1
NM_001369750.1 NP_001356679.1 integrin beta-1-binding protein 1 isoform 2
NM_004763.5 NP_004754.1 integrin beta-1-binding protein 1 isoform 1
NM_022334.5 NP_071729.1 integrin beta-1-binding protein 1 isoform 2
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables GDP-dissociation inhibitor activity IDA
IDA: 通过直接分析推断
11807099 GOA
enables integrin binding IDA
IDA: 通过直接分析推断
15703214 GOA
enables integrin binding IPI
IPI: 通过物理相互作用推断
12473654 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
9281591 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in activation of protein kinase B activity IDA
IDA: 通过直接分析推断
20616313 GOA
involved in blood vessel diameter maintenance IDA
IDA: 通过直接分析推断
20616313 GOA
involved in blood vessel endothelial cell proliferation involved in sprouting angiogenesis IDA
IDA: 通过直接分析推断
20616313 GOA
involved in cell-matrix adhesion IDA
IDA: 通过直接分析推断
9281591 GOA
involved in cellular response to fibroblast growth factor stimulus IDA
IDA: 通过直接分析推断
20616313 GOA
involved in cellular response to vascular endothelial growth factor stimulus IDA
IDA: 通过直接分析推断
20616313 GOA
involved in integrin activation IDA
IDA: 通过直接分析推断
23317506 GOA
involved in integrin-mediated signaling pathway IDA
IDA: 通过直接分析推断
11919189 GOA
involved in negative regulation of ERK1 and ERK2 cascade IDA
IDA: 通过直接分析推断
20616313 GOA
involved in negative regulation of cell migration involved in sprouting angiogenesis IDA
IDA: 通过直接分析推断
20616313 GOA
involved in negative regulation of cell population proliferation IDA
IDA: 通过直接分析推断
20616313 GOA
involved in negative regulation of focal adhesion assembly IDA
IDA: 通过直接分析推断
12473654 GOA
involved in negative regulation of protein binding IDA
IDA: 通过直接分析推断
12473654 GOA
involved in negative regulation of protein kinase activity IDA
IDA: 通过直接分析推断
20616313 GOA
involved in negative regulation of protein targeting to membrane IDA
IDA: 通过直接分析推断
11807099 GOA
involved in negative regulation of substrate adhesion-dependent cell spreading IDA
IDA: 通过直接分析推断
11807099 GOA
involved in positive regulation of Notch signaling pathway IDA
IDA: 通过直接分析推断
20616313 GOA
involved in positive regulation of cell population proliferation IDA
IDA: 通过直接分析推断
15703214 GOA
involved in positive regulation of endothelial cell migration IDA
IDA: 通过直接分析推断
20616313 GOA
involved in positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction IDA
IDA: 通过直接分析推断
20616313 GOA
involved in positive regulation of transcription by RNA polymerase II IDA
IDA: 通过直接分析推断
15703214 GOA
involved in protein localization to plasma membrane IDA
IDA: 通过直接分析推断
17916086 GOA
involved in regulation of GTPase activity IDA
IDA: 通过直接分析推断
11807099 GOA
involved in tube formation IDA
IDA: 通过直接分析推断
20616313 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in cell periphery IDA
IDA: 通过直接分析推断
11919189 GOA
located in cytoplasm IDA
IDA: 通过直接分析推断
11919189 GOA
located in cytosol IDA
IDA: 通过直接分析推断
11919189 GOA
NOT located in focal adhesion IDA
IDA: 通过直接分析推断
11919189 GOA
located in lamellipodium IDA
IDA: 通过直接分析推断
11919189 GOA
located in nucleus IDA
IDA: 通过直接分析推断
12473654 GOA
located in perinuclear region of cytoplasm IDA
IDA: 通过直接分析推断
11919189 GOA
located in ruffle IDA
IDA: 通过直接分析推断
11919189 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

ITGB1BP1 蛋白结构

ICAP-1_inte_bdg

ICAP-1_inte_bdg: Beta-1 integrin binding protein (1 - 200)

  • 0
  • 100
  • 200 a.a.
蛋白主名 其他名称

integrin beta-1-binding protein 1

bodenin

关联疾病

疾病名称 别名
Cerebral Cavernous Malformations

Cerebral Cavernous Malformation

Cavernous Malformations Of Cns And Retina

Cerebral Cavernous Malformation 1

Cavernous Angiomatous Malformations

Cerebral Capillary Malformations

CCM

Hyperkeratotic Cutaneous Capillary-Venous Malformations Associated With Cerebral Capillary Malformations

Familial Cavernous Angioma

Cavernous Angioma

Familial Cerebral Cavernous Malformation

Cerebral Cavernous Malformations 1

Cavernous Angioma, Familial

Cam

Cerebral Cavernous Malformations-1

Cavernoma

Central Nervous System Cavernous Hemangioma

Cerebral Cavernous Hemangioma

Familial Cavernous Hemangioma

Familial Cavernous Malformation

Familial Cerebral Cavernous Angioma

Intracerebral Cavernous Hemangioma

CCM1

Cavernous Hemangioma Of The Brain

Cerebral Cavernoma

Cerebral Cavernous Malformations, Type 1

Hemangioma, Cavernous, Central Nervous System

Hemangioma, Cavernous

Angioma, Cavernous

Cerebrocostomandibular Syndrome

Cerebro-Costo-Mandibular Syndrome

CCMS

Rib Gap Defects With Micrognathia

Ccm Syndrome

Angioma Serpiginosum

Angioma Serpiginosum Of Skin

Angioma Serpiginosum, X-Linked

Cavernous Hemangioma

Hemangioma, Cavernous

Cavernoma

Cavernous Haemangioma

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 ITGB1BP1 VGNC VGNC:42137
Rattus norvegicus ITGB1BP1 RGD RGD:1307810
Macaca mulatta ITGB1BP1 VGNC VGNC:73643
Felis catus ITGB1BP1 VGNC VGNC:80123
Bos taurus ITGB1BP1 VGNC VGNC:30325
Mus musculus ITGB1BP1 MGD MGI:1306802