CIB1 - calcium and integrin binding 1 Gene

Homo sapiens

Also known as CIB; CIBP; KIP1; PRKDCIP; SIP2-28

Gene ID: 10519 | Gene type: protein coding

About 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.

Summary

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 Products(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

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables calcium ion binding	IMP IMP: Inferred from mutant phenotype	15475008	GOA
enables calcium-dependent protein kinase inhibitor activity	IMP IMP: Inferred from mutant phenotype	20473878	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	10366599	GOA
enables protein serine/threonine kinase inhibitor activity	IDA IDA: Inferred from direct assay	20473878	GOA
enables protein-membrane adaptor activity	IGI IGI: Inferred from genetic interaction	20639889	GOA
enables small GTPase binding	IPI IPI: Inferred from physical interaction	11756406	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in DNA damage response	IDA IDA: Inferred from direct assay	12011095	GOA
involved in apoptotic process	IMP IMP: Inferred from mutant phenotype	10366599	GOA
involved in cellular response to nerve growth factor stimulus	IDA IDA: Inferred from direct assay	21215777	GOA
involved in cellular response to tumor necrosis factor	IMP IMP: Inferred from mutant phenotype	19854831	GOA
involved in cytoplasmic microtubule organization	IMP IMP: Inferred from mutant phenotype	20951827	GOA
involved in endomitotic cell cycle	IDA IDA: Inferred from direct assay	21264284	GOA
involved in negative regulation of apoptotic process	IMP IMP: Inferred from mutant phenotype	19854831	GOA
involved in negative regulation of cell population proliferation	IMP IMP: Inferred from mutant phenotype	21264284	GOA
involved in negative regulation of microtubule depolymerization	IDA IDA: Inferred from direct assay	21215777	GOA
involved in negative regulation of neuron projection development	IDA IDA: Inferred from direct assay	21215777	GOA
involved in positive regulation of NF-kappaB transcription factor activity	IMP IMP: Inferred from mutant phenotype	19854831	GOA
involved in positive regulation of calcineurin-NFAT signaling cascade	IDA IDA: Inferred from direct assay	20639889	GOA
involved in positive regulation of cell adhesion mediated by integrin	IDA IDA: Inferred from direct assay	11756406	GOA
involved in positive regulation of protein localization to plasma membrane	IGI IGI: Inferred from genetic interaction	20639889	GOA
involved in positive regulation of protein targeting to membrane	IMP IMP: Inferred from mutant phenotype	19854831	GOA
involved in positive regulation of substrate adhesion-dependent cell spreading	IDA IDA: Inferred from direct assay	11756406	GOA
involved in regulation of cell division	IMP IMP: Inferred from mutant phenotype	20951827	GOA
involved in regulation of cell population proliferation	IMP IMP: Inferred from mutant phenotype	20951827	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in cell periphery	IDA IDA: Inferred from direct assay	11756406	GOA
located in centrosome	IDA IDA: Inferred from direct assay	20951827	GOA
located in cytoplasm	IDA IDA: Inferred from direct assay	11756406	GOA
located in cytoplasm	IMP IMP: Inferred from mutant phenotype	10366599	GOA
located in endoplasmic reticulum	IMP IMP: Inferred from mutant phenotype	10366599	GOA
located in filopodium tip	IDA IDA: Inferred from direct assay	20951827	GOA
located in growth cone	IDA IDA: Inferred from direct assay	21215777	GOA
located in lamellipodium	IDA IDA: Inferred from direct assay	21215777	GOA
located in membrane	IDA IDA: Inferred from direct assay	10366599	GOA
located in neuron projection	IDA IDA: Inferred from direct assay	21215777	GOA
located in neuronal cell body	IDA IDA: Inferred from direct assay	21215777	GOA
located in nucleoplasm	IMP IMP: Inferred from mutant phenotype	10366599	GOA
located in nucleus	IDA IDA: Inferred from direct assay	11756406	GOA
located in perinuclear region of cytoplasm	IDA IDA: Inferred from direct assay	11756406	GOA
located in plasma membrane	IDA IDA: Inferred from direct assay	19854831	GOA
located in sarcolemma	IDA IDA: Inferred from direct assay	20639889	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

CIB1 Protein Structure

EF-hand_7

0
100
191 a.a.

Protein Preferred Names

Protein Names

calcium and integrin-binding protein 1

DNA-PK interaction protein

Related Diseases

Diseases

Alias

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

Diseases	Alias
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

Related Agents

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-162558	NCGC00351170	Inhibitor	/	Unkown
HY-163805	UNC10245380		/	Unkown
HY-RS02706	CIB1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	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

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