CCK cholecystokinin [Homo sapiens (human)] - Gene

Summary

Official Symbol: CCKprovided by HGNC
Official Full Name: cholecystokininprovided by HGNC
Primary source: HGNC:HGNC:1569
See related: Ensembl:ENSG00000187094 MIM:118440; AllianceGenome:HGNC:1569
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
Summary: This gene encodes a member of the gastrin/cholecystokinin family of proteins. The encoded preproprotein is proteolytically processed to generate multiple protein products, including the peptide hormones cholecystokinin-8, -12, -33, and others. The encoded peptides have been shown to regulate gastric acid secretion and food intake. A sulfated form of cholecystokinin-8 may modulate neuronal activity in the brain. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2015]
Expression: Biased expression in duodenum (RPKM 21.7), brain (RPKM 20.3) and 2 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 3p22.1

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	3	NC_000003.12 (42257826..42266185, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	3	NC_060927.1 (42275821..42284183, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	3	NC_000003.11 (42299318..42307677, complement)

Chromosome 3 - NC_000003.12 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?

Substance P, NPY, CCK and their receptors in five brain regions in major depressive disorder with transcriptomic analysis of locus coeruleus neurons.
Title: Substance P, NPY, CCK and their receptors in five brain regions in major depressive disorder with transcriptomic analysis of locus coeruleus neurons.
TRPV1 enhances cholecystokinin signaling in primary vagal afferent neurons and mediates the central effects on spontaneous glutamate release in the NTS.
Title: TRPV1 enhances cholecystokinin signaling in primary vagal afferent neurons and mediates the central effects on spontaneous glutamate release in the NTS.
Anatomical basis of gastrin- and CCK-secreting cells and their functions. A review.
Title: Anatomical basis of gastrin- and CCK-secreting cells and their functions. A review.
CCK regulates osteogenic differentiation through TNFalpha/NF-kappaB in peri-implantitis.
Title: CCK regulates osteogenic differentiation through TNFα/NF-κB in peri-implantitis.
Elevated Fasting Satiety-Promoting Cholecystokinin (CCK) in Avoidant/Restrictive Food Intake Disorder Compared to Healthy Controls.
Title: Elevated Fasting Satiety-Promoting Cholecystokinin (CCK) in Avoidant/Restrictive Food Intake Disorder Compared to Healthy Controls.
Patients with gastric cancers presented with lower plasma concentrations of CCK than healthy controls and individuals from colorectal cancers (p = 0.02). The highest plasma concentrations of neurotensin was found in colorectal cancer patients in comparison to gastric (p = 0.02).
Title: Changes in plasma levels of cholecystokinin, neurotensin, VIP and PYY in gastric and colorectal cancer - Preliminary results.
These findings suggest that CCK physiologically functions as a negative regulator of keratinocyte-based inflammation in an autocrine or paracrine manner, although decreased CCK may pathologically contribute to continuous and aggravated skin lesions such as psoriasis.
Title: Cholecystokinin Downregulates Psoriatic Inflammation by Its Possible Self-Regulatory Effect on Epidermal Keratinocytes.
Haemodynamic changes seem to regulate regional proCCK expression in the mammalian heart.
Title: Cardiac procholecystokinin expression during haemodynamic changes in the mammalian heart.
In patients with gastroesophageal reflux disease (GERD) an increase of cholecystokinin level is observed. The combination of GERD and type II diabetes is accompanied by a more prominent increase of cholecystokinin in blood serum.
Title: Changes in cholecystokinin level in patients with gastroesophageal reflux disease on the background of type II diabetes.
We found the suicide-associated gene coexpression network. The reconstructed network consisted of 104 genes. Topological analysis showed that in total, CCK, INPP1, DDC, and NPY genes are the most fundamental hubs in the network
Title: Integrated analysis of the genetic basis of suicidal behavior: what has been shown by structural genetic studies so far.

Submit: New GeneRIF Correction See all GeneRIFs (81)

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

EBI GWAS Catalog

Description
Common variants at CDKAL1 and KLF9 are associated with body mass index in east Asian populations. EBI GWAS Catalog EBI GWAS CatalogPubMed
EMR-linked GWAS study: investigation of variation landscape of loci for body mass index in children. EBI GWAS Catalog EBI GWAS CatalogPubMed

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

GDB:181198 (e-PCR)
- UniSTS:155172

SHGC-76858 (e-PCR)
- UniSTS:21645

PMC311033P1 (e-PCR)
- UniSTS:272839

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables hormone activity	TAS Traceable Author Statement more info	PubMed
enables neuropeptide hormone activity	IBA Inferred from Biological aspect of Ancestor more info
enables neuropeptide hormone activity	ISS Inferred from Sequence or Structural Similarity more info	PubMed
enables peptide hormone receptor binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in axonogenesis	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in digestion	IBA Inferred from Biological aspect of Ancestor more info
involved_in eating behavior	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in neuron migration	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in signal transduction	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
is_active_in axon	IBA Inferred from Biological aspect of Ancestor more info
located_in axon	ISS Inferred from Sequence or Structural Similarity more info	PubMed
located_in extracellular region	TAS Traceable Author Statement more info
is_active_in extracellular space	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: cholecystokinin

Names: cholecystokinin triacontatriapeptide; prepro-cholecystokinin

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_000729.6 → NP_000720.1 cholecystokinin preproprotein

See identical proteins and their annotated locations for NP_000720.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longer transcript. Both variants 1 and 2 encode the same protein.

Source sequence(s)

AC018358, BC111026, BI756101, BM544754, CB154424, HY140623

Consensus CDS

CCDS2696.1

UniProtKB/Swiss-Prot

P06307

UniProtKB/TrEMBL

A0A024R2P8, Q6FG82

Related

ENSP00000379472.2, ENST00000396169.7

Conserved Domains (1) summary

pfam00918
Location:4 → 115

Gastrin; Gastrin/cholecystokinin family
NM_001174138.3 → NP_001167609.1 cholecystokinin preproprotein

See identical proteins and their annotated locations for NP_001167609.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Both variants 1 and 2 encode the same protein.

Source sequence(s)

BC008283

Consensus CDS

CCDS2696.1

UniProtKB/Swiss-Prot

P06307

UniProtKB/TrEMBL

A0A024R2P8, Q6FG82

Related

ENSP00000409124.1, ENST00000434608.1

Conserved Domains (1) summary

pfam00918
Location:4 → 115

Gastrin; Gastrin/cholecystokinin family