CCKAR cholecystokinin A receptor [Homo sapiens (human)] - Gene

Summary

Official Symbol: CCKARprovided by HGNC
Official Full Name: cholecystokinin A receptorprovided by HGNC
Primary source: HGNC:HGNC:1570
See related: Ensembl:ENSG00000163394 MIM:118444; AllianceGenome:HGNC:1570
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: CCK-A; CCK1R; CCKRA; CCK-1R; CCK1-R
Summary: This gene encodes a G-protein coupled receptor that binds non-sulfated members of the cholecystokinin (CCK) family of peptide hormones. This receptor is a major physiologic mediator of pancreatic enzyme secretion and smooth muscle contraction of the gallbladder and stomach. In the central and peripheral nervous system this receptor regulates satiety and the release of beta-endorphin and dopamine. [provided by RefSeq, Jul 2008]
Expression: Biased expression in gall bladder (RPKM 17.2) and stomach (RPKM 6.8) See more
Orthologs: mouse all
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Genomic context

Location:: 4p15.2

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	4	NC_000004.12 (26481396..26490484, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	4	NC_060928.1 (26466670..26475758, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	4	NC_000004.11 (26483018..26492106, complement)

Chromosome 4 - NC_000004.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

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?

Cholesterol-dependent dynamic changes in the conformation of the type 1 cholecystokinin receptor affect ligand binding and G protein coupling.
Title: Cholesterol-dependent dynamic changes in the conformation of the type 1 cholecystokinin receptor affect ligand binding and G protein coupling.
Structures of the human cholecystokinin 1 (CCK1) receptor bound to Gs and Gq mimetic proteins provide insight into mechanisms of G protein selectivity.
Title: Structures of the human cholecystokinin 1 (CCK1) receptor bound to Gs and Gq mimetic proteins provide insight into mechanisms of G protein selectivity.
Photodynamic Activation of Cholecystokinin 1 Receptor with Different Genetically Encoded Protein Photosensitizers and from Varied Subcellular Sites.
Title: Photodynamic Activation of Cholecystokinin 1 Receptor with Different Genetically Encoded Protein Photosensitizers and from Varied Subcellular Sites.
CCK1R may play a role differing from CCK2R in colon carcinogenesis, nuclear CCK1R represents a potential biomarker for poor prognosis.
Title: Expression of cholecystokinin receptors in colon cancer and the clinical correlation in Taiwan.
Study shows downregulation of CCKAR gene expression in A1/A1 genotype of gallstone disease patients as compared with control with significant variation in its expression pattern in relation to polymorphism.
Title: Polymorphism and Expression Profile of Cholecystokinin Type A Receptor in Relation to Gallstone Disease Susceptibility.
Our study showed significantly higher expression of CCKAR and down regulation of CCKBR in pancreatic cancer as compared to control while CCKBR/GR was detected in majority of stomach cancer samples. Thus, our study suggests that CCK and Gs receptors may have diagnostic and therapeutic implications.
Title: Heterogeneous expression of cholecystokinin and gastrin receptor in stomach and pancreatic cancer: An immunohistochemical study.
The neurotransmitter cholecystokinin (CCK), along with its receptors, CCKAR and CCKBR, have been previously associated with psychiatric disorders, suggesting that variants near these genes may play a role in the pre-pulse/startle response in this cohort
Title: Variants Near CCK Receptors are Associated With Electrophysiological Responses to Pre-pulse Startle Stimuli in a Mexican American Cohort.
CCK-AR polymorphism is protective against functional dyspepsia.
Title: Functional dyspepsia is associated with GNβ3 C825T and CCK-AR T/C polymorphism.
There is functional synergy between cholecystokinin receptors CCKAR and CCKBR in mammalian brain development.
Title: Functional synergy between cholecystokinin receptors CCKAR and CCKBR in mammalian brain development.
CCK binding modulates the contractile function of the lower esophageal sphincter through differential binding to the CCK-A receptor on the sling and clasp fibers
Title: Investigation of cholecystokinin receptors in the human lower esophageal sphincter.

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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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Markers

SHGC-50173 (e-PCR)
- UniSTS:19745

NoName (e-PCR)
- UniSTS:482107

D4S3157 (e-PCR)
- UniSTS:46160

STS-L19315 (e-PCR)
- UniSTS:19085

NoName (e-PCR)
- UniSTS:489673

CCKAR (e-PCR)
- UniSTS:519134

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables cholecystokinin receptor activity	IBA Inferred from Biological aspect of Ancestor more info
enables cholecystokinin receptor activity	IDA Inferred from Direct Assay more info	PubMed
enables peptide hormone binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in G protein-coupled receptor signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in axonogenesis	IEA Inferred from Electronic Annotation more info
involved_in cellular response to hormone stimulus	IBA Inferred from Biological aspect of Ancestor more info
involved_in cholecystokinin signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in forebrain development	IEA Inferred from Electronic Annotation more info
involved_in neuron migration	IEA Inferred from Electronic Annotation more info
involved_in phospholipase C-activating G protein-coupled receptor signaling pathway	TAS Traceable Author Statement more info	PubMed
involved_in regulation of hormone secretion	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in cytosol	IDA Inferred from Direct Assay more info
located_in membrane	IDA Inferred from Direct Assay more info	PubMed
located_in nucleoplasm	IDA Inferred from Direct Assay more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	IDA Inferred from Direct Assay more info
located_in plasma membrane	TAS Traceable Author Statement more info

General protein information

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Preferred Names: cholecystokinin receptor type A

Names: CCK-A receptor; CCK-AR; cholecystokinin type 1 receptor; cholecystokinin type-A receptor; cholecystokinin-1 receptor

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.

Genomic

NG_012053.1 RefSeqGene

Range

4937..14025

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_000730.3 → NP_000721.1 cholecystokinin receptor type A

See identical proteins and their annotated locations for NP_000721.1

Status: REVIEWED

Source sequence(s)

AC093637, L19315

Consensus CDS

CCDS3438.1

UniProtKB/Swiss-Prot

B2R9Z5, P32238

Related

ENSP00000295589.3, ENST00000295589.4

Conserved Domains (3) summary

pfam09193
Location:1 → 47

CholecysA-Rec_N; Cholecystokinin A receptor, N-terminal

cd14964
Location:43 → 69

7tm_GPCRs; TM helix 1 [structural motif]

cl28897
Location:42 → 381

7tm_GPCRs; seven-transmembrane G protein-coupled receptor superfamily