1. Gene
  2. CIB1 - calcium and integrin binding 1 Gene

CIB1 - calcium and integrin binding 1 Gene

中文名称:钙和整合素结合 1

种属: Homo sapiens

同用名: CIB; CIBP; KIP1; PRKDCIP; SIP2-28

基因 ID: 10519 | 基因类型: protein coding

关于 CIB1

Cytogenetic location: 15q26.1 Genomic coordinates (GRCh38): 15:90,229,975-90,265,759 (from NCBI)

This gene has 11 transcripts (splice variants), 213 orthologues, 8 paralogues and is associated with 2 phenotypes. Ubiquitous expression in colon (RPKM 49.7), adrenal (RPKM 37.7) and 25 other tissues.

功能概要

该基因编码包含 EF-hand 结构域的钙结合超家族的成员。编码的蛋白质与许多其他蛋白质相互作用,包括血小板整合素 alpha-IIb-beta-3、DNA 依赖性蛋白激酶、早老素-2、粘着斑激酶、p21 激活激酶和蛋白激酶 D。编码的蛋白质可能参与其中影响细胞存活和增殖,并与包括癌症和阿尔茨海默氏病在内的多种疾病状态相关。可变剪接导致多个转录本变体。[RefSeq 提供,2013 年 4 月]

This gene encodes a member of the EF-hand domain-containing calcium-binding superfamily. The encoded protein interacts with many other proteins, including the platelet Integrin alpha-IIb-beta-3, DNA-dependent protein kinase, presenilin-2, focal adhesion kinase, p21 activated kinase, and protein kinase D. The encoded protein may be involved in cell survival and proliferation, and is associated with several disease states including Cancer and Alzheimer's disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2013]

CIB1 基因产物(2)

mRNA Protein Name
NM_001277764.2 NP_001264693.1 calcium and integrin-binding protein 1 isoform a
NM_006384.4 NP_006375.2 calcium and integrin-binding protein 1 isoform b

CIB1 蛋白结构

EF-hand_7

EF-hand_7: EF-hand domain pair (110 - 175)

  • 0
  • 100
  • 191 a.a.
蛋白主名 其他名称

calcium and integrin-binding protein 1

DNA-PK interaction protein

关联疾病

疾病名称 别名
Epidermodysplasia Verruciformis 3

Epidermodysplasia Verruciformis, Susceptibility To, 3

EV3

Epidermodysplasia Verruciformis 1

Epidermodysplasia Verruciformis

Epidermodysplasia Verruciformis, Susceptibility To, 1

Lutz-Lewandowsky Epidermodysplasia Verruciformis

EV1

Lewandowsky-Lutz Syndrome

Ev

Pityriasis Versicolor

Tinea Versicolor

Infection By Pityrosporum Furfur

Usher Syndrome, Type Ij

Usher Syndrome Type 1j

USH1J

Usher Syndrome Type Ij

Usher Syndrome 1j

Usher'S Syndrome Type 1j

Skin Carcinoma

Skin Cancer

Carcinoma Of Skin

Ca - Skin Cancer

Cancer Of Skin

Malignant Neoplasm Of Skin

Melanoma And Non-Melanoma Skin Cancer

Skin Cancers

Cancer, Skin

Schneiderian Carcinoma

Cylindrical Cell Carcinoma

Dilated Cardiomyopathy

Familial Dilated Cardiomyopathy

Primary Dilated Cardiomyopathy

Idiopathic Dilated Cardiomyopathy

Congestive Cardiomyopathy

Idiopathic Dilation Cardiomyopathy

Primary Familial Dilated Cardiomyopathy

Cardiomyopathy, Dilated

DCM

Cardiomyopathy, Familial Dilated

Dilated Cardiomyopathy, Familial

Hypokinetic Dilated Cardiomyopathy, Familial

Familial Idiopathic Cardiomyopathy

Fdc

Cardiomyopathy, Familial Idiopathic

Idiopathic Cardiomegaly

Dilated Congestive Cardiomyopathy

Chronic Dilated Cardiomyopathy

Ccm - [Congestive Cardiomyopathy]

Cocm - [Congestive Cardiomyopathy]

Dcm - [Dilated Cardiomyopathy]

Dilated-Hypokinetic Cardiomyopathy

Congestive Idiopathic Cardiomyopathy

Primary Idiopathic Dilated Cardiomyopathy

Alzheimer Disease, Familial, 1

Alzheimer Disease

Alzheimer'S Disease

Presenile And Senile Dementia

AD1

Alzheimer Disease, Susceptibility To

Alzheimer Disease, Late-Onset, Susceptibility To

Alzheimer Disease 1, Familial

AD

Familial Alzheimer Disease

Alzheimer Disease, Late-Onset

Alzheimers Dementia

Alzheimer Dementia

Alzheimer Sclerosis

Alzheimer Syndrome

Alzheimer-Type Dementia

Dat

Primary Senile Degenerative Dementia

Sdat

Alzheimer Disease 1

Autosomal Dominant Alzheimer Disease

Early-Onset Alzheimer Disease With Cerebral Amyloid Angiopathy

Late Onset Alzheimer Disease

Alzheimers Disease

Alzheimer Disease, Early-Onset, With Cerebral Amyloid Angiopathy

Late-Onset Alzheimers Disease

Alzheimer'S Disease Pathway Kegg

Dementia Due To Alzheimer'S Disease

Alzheimer Disease Type 1

Alzheimers

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
Macaca mulatta CIB1 VGNC VGNC:71189
Mus musculus CIB1 MGD MGI:1344418
Felis catus CIB1 VGNC VGNC:60898
Canis familiaris CIB1 VGNC VGNC:39266
Bos taurus CIB1 VGNC VGNC:27359
Rattus norvegicus CIB1 RGD RGD:620133