CIB1 calcium and integrin binding 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: CIB1provided by HGNC
Official Full Name: calcium and integrin binding 1provided by HGNC
Primary source: HGNC:HGNC:16920
See related: Ensembl:ENSG00000185043 MIM:602293; AllianceGenome:HGNC:16920
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: CIB; EV3; CIBP; KIP1; PRKDCIP; SIP2-28
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]
Expression: Ubiquitous expression in colon (RPKM 49.7), adrenal (RPKM 37.7) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 15q26.1

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	15	NC_000015.10 (90229975..90265759, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	15	NC_060939.1 (87985982..88021749, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	15	NC_000015.9 (90773207..90808991, complement)

Chromosome 15 - NC_000015.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Role of calcium integrin-binding protein 1 in the mechanobiology of the liver endothelium.
Title: Role of calcium integrin-binding protein 1 in the mechanobiology of the liver endothelium.
Identification of calcium and integrin-binding protein 1 as a reprogrammed glucose metabolism mediator to restrict immune cell infiltration in the stromal compartment of pancreatic ductal adenocarcinoma.
Title: Identification of calcium and integrin-binding protein 1 as a reprogrammed glucose metabolism mediator to restrict immune cell infiltration in the stromal compartment of pancreatic ductal adenocarcinoma.
Expression of CIB1 correlates with colorectal liver metastases but not with peritoneal carcinomatosis.
Title: Expression of CIB1 correlates with colorectal liver metastases but not with peritoneal carcinomatosis.
Calcium and integrin binding protein 1 (CIB1) induces myocardial fibrosis in myocardial infarction via regulating the PI3K/Akt pathway.
Title: Calcium and integrin binding protein 1 (CIB1) induces myocardial fibrosis in myocardial infarction via regulating the PI3K/Akt pathway.
CHIP-mediated CIB1 ubiquitination regulated epithelial-mesenchymal transition and tumor metastasis in lung adenocarcinoma.
Title: CHIP-mediated CIB1 ubiquitination regulated epithelial-mesenchymal transition and tumor metastasis in lung adenocarcinoma.
Expression of a TMC6-TMC8-CIB1 heterotrimeric complex in lymphocytes is regulated by each of the components.
Title: Expression of a TMC6-TMC8-CIB1 heterotrimeric complex in lymphocytes is regulated by each of the components.
Identification of calcium and integrin-binding protein 1 as a novel regulator of production of amyloid beta peptide using CRISPR/Cas9-based screening system.
Title: Identification of calcium and integrin-binding protein 1 as a novel regulator of production of amyloid β peptide using CRISPR/Cas9-based screening system.
Gene expression is stable in a complete CIB1 knockout keratinocyte model.
Title: Gene expression is stable in a complete CIB1 knockout keratinocyte model.
these results suggest that in resting platelets ASK1 is bound to CIB1 at low Ca2+ concentrations. Agonist-induced platelet activation causes an increase in intracellular Ca2+ concentration that leads to the dissociation of CIB1 from ASK1, allowing for proper dimerization through ASK1 N-terminal coiled-coil (NCC) domains.
Title: Calcium-induced dissociation of CIB1 from ASK1 regulates agonist-induced activation of the p38 MAPK pathway in platelets.
these findings suggest that the disruption of CIB1-EVER1-EVER2-dependent keratinocyte-intrinsic immunity underlies the selective susceptibility to beta-HPVs of epidermodysplasia verruciformis patients.
Title: The human CIB1-EVER1-EVER2 complex governs keratinocyte-intrinsic immunity to β-papillomaviruses.

Submit: New GeneRIF Correction See all GeneRIFs (53)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Epidermodysplasia verruciformis, susceptibility to, 3 MedGen: C4748876 OMIM: 618267 GeneReviews: Not available	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Replication interactions

Interaction	Pubs
HIV-1 replication, specifically viral entry, requires CIB1 and CIB2 expression as shRNA knockdown of each impairs replication in Jurkat and primary CD4+ T cells	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables calcium ion binding	IBA Inferred from Biological aspect of Ancestor more info
enables calcium ion binding	IMP Inferred from Mutant Phenotype more info	PubMed
enables calcium-dependent protein kinase inhibitor activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables magnesium ion binding	IBA Inferred from Biological aspect of Ancestor more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein serine/threonine kinase inhibitor activity	IDA Inferred from Direct Assay more info	PubMed
enables protein-membrane adaptor activity	IBA Inferred from Biological aspect of Ancestor more info
enables protein-membrane adaptor activity	IGI Inferred from Genetic Interaction more info	PubMed
enables small GTPase binding	IPI Inferred from Physical Interaction more info	PubMed
enables transmembrane transporter binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in DNA damage response	IDA Inferred from Direct Assay more info	PubMed
involved_in angiogenesis	IEA Inferred from Electronic Annotation more info
involved_in apoptotic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cell adhesion	IEA Inferred from Electronic Annotation more info
involved_in cell division	IEA Inferred from Electronic Annotation more info
involved_in cellular response to growth factor stimulus	IBA Inferred from Biological aspect of Ancestor more info
involved_in cellular response to growth factor stimulus	ISS Inferred from Sequence or Structural Similarity more info
involved_in cellular response to nerve growth factor stimulus	IDA Inferred from Direct Assay more info	PubMed
involved_in cellular response to tumor necrosis factor	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cytoplasmic microtubule organization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in double-strand break repair	TAS Traceable Author Statement more info	PubMed
involved_in endomitotic cell cycle	IDA Inferred from Direct Assay more info	PubMed
involved_in extrinsic apoptotic signaling pathway	TAS Traceable Author Statement more info	PubMed
involved_in negative regulation of apoptotic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of cell population proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of megakaryocyte differentiation	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of microtubule depolymerization	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of neuron projection development	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of protein phosphorylation	ISS Inferred from Sequence or Structural Similarity more info
involved_in platelet formation	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of ERK1 and ERK2 cascade	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of NF-kappaB transcription factor activity	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of calcineurin-NFAT signaling cascade	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of calcineurin-NFAT signaling cascade	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of catalytic activity	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of cell adhesion mediated by integrin	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of cell growth	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of cell migration	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of cell migration involved in sprouting angiogenesis	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of cell population proliferation	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of cell-matrix adhesion	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of male germ cell proliferation	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of protein localization to plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of protein localization to plasma membrane	IGI Inferred from Genetic Interaction more info	PubMed
involved_in positive regulation of protein phosphorylation	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of protein serine/threonine kinase activity	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of protein targeting to membrane	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of substrate adhesion-dependent cell spreading	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of cell division	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of cell population proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in response to ischemia	ISS Inferred from Sequence or Structural Similarity more info
involved_in spermatid development	ISS Inferred from Sequence or Structural Similarity more info
involved_in thrombopoietin-mediated signaling pathway	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
located_in Golgi apparatus	IEA Inferred from Electronic Annotation more info
located_in apical plasma membrane	IEA Inferred from Electronic Annotation more info
is_active_in axon	IBA Inferred from Biological aspect of Ancestor more info
located_in cell periphery	IDA Inferred from Direct Assay more info	PubMed
located_in centrosome	IDA Inferred from Direct Assay more info	PubMed
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasm	IMP Inferred from Mutant Phenotype more info	PubMed
located_in endoplasmic reticulum	IMP Inferred from Mutant Phenotype more info	PubMed
located_in extracellular exosome	HDA more info	PubMed
located_in filopodium tip	IDA Inferred from Direct Assay more info	PubMed
located_in growth cone	IDA Inferred from Direct Assay more info	PubMed
located_in lamellipodium	IDA Inferred from Direct Assay more info	PubMed
located_in membrane	IDA Inferred from Direct Assay more info	PubMed
located_in neuron projection	IDA Inferred from Direct Assay more info	PubMed
is_active_in neuronal cell body	IBA Inferred from Biological aspect of Ancestor more info
located_in neuronal cell body	IDA Inferred from Direct Assay more info	PubMed
located_in nucleoplasm	IDA Inferred from Direct Assay more info
located_in nucleoplasm	IMP Inferred from Mutant Phenotype more info	PubMed
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
located_in perikaryon	IEA Inferred from Electronic Annotation more info
located_in perinuclear region of cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in ruffle membrane	IEA Inferred from Electronic Annotation more info
is_active_in sarcolemma	IBA Inferred from Biological aspect of Ancestor more info
located_in sarcolemma	IDA Inferred from Direct Assay more info	PubMed
located_in vesicle	HDA more info	PubMed

General protein information

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Preferred Names: calcium and integrin-binding protein 1

Names: DNA-PK interaction protein; DNA-PKcs-interacting protein; DNA-dependent protein kinase interacting protein; SNK-interacting protein 2-28; calcium and integrin binding 1 (calmyrin); testicular secretory protein Li 9

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001277764.2 → NP_001264693.1 calcium and integrin-binding protein 1 isoform a

See identical proteins and their annotated locations for NP_001264693.1

Status: REVIEWED

Description

Transcript Variant: This variant (a) represents the longest transcript and encodes the longer isoform (a, also known as CIB1a).

Source sequence(s)

AC091167, BG231771, CD622547, JQ246073

Consensus CDS

CCDS73781.1

UniProtKB/Swiss-Prot

Q99828

Related

ENSP00000479860.1, ENST00000612800.1

Conserved Domains (3) summary

cd00051
Location:151 → 218

EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...

pfam13499
Location:149 → 217

EF-hand_7; EF-hand domain pair

pfam13833
Location:122 → 172

EF-hand_8; EF-hand domain pair
NM_006384.4 → NP_006375.2 calcium and integrin-binding protein 1 isoform b

See identical proteins and their annotated locations for NP_006375.2

Status: REVIEWED

Description

Transcript Variant: This variant (b) uses an alternate splice site in the coding region, compared to variant a. The encoded isoform (b, also known as CIB1) is shorter, compared to isoform a.

Source sequence(s)

AA769426, AC091167, CD622547, U82226

Consensus CDS

CCDS10360.1

UniProtKB/Swiss-Prot

B5BU40, H6WJF3, O00693, O00735, Q6IB49, Q96J54, Q99828, Q99971

UniProtKB/TrEMBL

A0A140VK09

Related

ENSP00000333873.6, ENST00000328649.11

Conserved Domains (1) summary

COG5126
Location:67 → 182

FRQ1; Ca2+-binding protein, EF-hand superfamily [Signal transduction mechanisms]

RNA

NR_102427.1 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (c) uses an alternate 5' exon and an alternate splice site in an internal exon, compared to variant a. This variant is represented as non-coding because it lacks the translation start site used in variant a and does not include a supported in-frame ORF.

Source sequence(s)

BG231771, BI520476, HY070030
NR_102428.1 RNA Sequence

Status: REVIEWED

Source sequence(s)

BG231771, BG759961

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000015.10 Reference GRCh38.p14 Primary Assembly

Range

90229975..90265759 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006720375.3 → XP_006720438.1 calcium and integrin-binding protein 1 isoform X1

Conserved Domains (3) summary

cd00051
Location:111 → 178

EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...

pfam13499
Location:109 → 177

EF-hand_7; EF-hand domain pair

pfam13833
Location:82 → 132

EF-hand_8; EF-hand domain pair