CIB3 calcium and integrin binding family member 3 [Homo sapiens (human)] - Gene

Summary

Official Symbol: CIB3provided by HGNC
Official Full Name: calcium and integrin binding family member 3provided by HGNC
Primary source: HGNC:HGNC:24580
See related: Ensembl:ENSG00000141977 MIM:610645; AllianceGenome:HGNC:24580
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: KIP3
Summary: This gene product shares a high degree of sequence similarity with DNA-dependent protein kinase catalytic subunit-interacting protein 2 in human and mouse, and like them may bind the catalytic subunit of DNA-dependent protein kinases. The exact function of this gene is not known. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]
Expression: Low expression observed in reference dataset See more
Orthologs: mouse all
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Genomic context

Location:: 19p13.11

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	19	NC_000019.10 (16161368..16173525, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	19	NC_060943.1 (16295433..16307592, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	19	NC_000019.9 (16272179..16284336, complement)

Chromosome 19 - NC_000019.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: HPA RNA-seq normal tissues 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?

Atomic force microscopy reveals distinct protofilament-scale structural dynamics in depolymerizing microtubule arrays.
Title: Atomic force microscopy reveals distinct protofilament-scale structural dynamics in depolymerizing microtubule arrays.
CIB2 and CIB3 are auxiliary subunits of the mechanotransduction channel of hair cells.
Title: CIB2 and CIB3 are auxiliary subunits of the mechanotransduction channel of hair cells.
CIB3, as binding partners for the integrin alphaIIb subunit, which suggests that they are potentially involved in regulating integrin alphaIIb subunit activation.
Title: Biophysical and structural studies of the human calcium- and integrin-binding protein family: understanding their functional similarities and differences.

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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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

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	IDA Inferred from Direct Assay more info	PubMed
enables magnesium ion binding	IBA Inferred from Biological aspect of Ancestor more info
enables magnesium ion binding	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in calcium ion homeostasis	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: calcium and integrin-binding family member 3

Names: DNA-dependent protein kinase catalytic subunit-interacting protein 3

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_001300922.2 → NP_001287851.1 calcium and integrin-binding family member 3 isoform 2

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks two consecutive alternate exons in the 5' coding region, compared to variant 1. It encodes isoform 2, which lacks an internal in-frame segment and is shorter, compared to isoform 1.

Source sequence(s)

AB050868, AW295492, BC069428, BC112200

Consensus CDS

CCDS74305.1

UniProtKB/Swiss-Prot

Q96Q77

Related

ENSP00000369188.3, ENST00000379859.7

Conserved Domains (2) summary

pfam13499
Location:59 → 124

EF-hand_7; EF-hand domain pair

cl08302
Location:62 → 124

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 ...
NM_054113.4 → NP_473454.1 calcium and integrin-binding family member 3 isoform 1

See identical proteins and their annotated locations for NP_473454.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).

Source sequence(s)

AB050868, AW295492, BC112200

Consensus CDS

CCDS12340.1

UniProtKB/Swiss-Prot

E7EUX1, Q2M1W0, Q6ISP1, Q96Q77

UniProtKB/TrEMBL

Q6NT26

Related

ENSP00000269878.3, ENST00000269878.8

Conserved Domains (2) summary

COG5126
Location:20 → 178

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

cd00051
Location:111 → 173

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 ...