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CCK cholecystokinin [ Homo sapiens (human) ]

Gene ID: 885, updated on 5-Mar-2024

Summary

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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
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Genomic context

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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_000003.12Genomic Context describing neighboring genes Neighboring gene trafficking kinesin protein 1 Neighboring gene RNA, U4 small nuclear 78, pseudogene Neighboring gene uncharacterized LOC105377048 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr3:42297230-42298429 Neighboring gene spalt like transcription factor 4 pseudogene 6 Neighboring gene eukaryotic translation initiation factor 4B pseudogene 4

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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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Related articles in PubMed

  1. CCK regulates osteogenic differentiation through TNFα/NF-κB in peri-implantitis. Chou L, et al. J Int Med Res, 2022 Dec. PMID 36495169, Free PMC Article
  2. Elevated Fasting Satiety-Promoting Cholecystokinin (CCK) in Avoidant/Restrictive Food Intake Disorder Compared to Healthy Controls. Burton Murray H, et al. J Clin Psychiatry, 2022 Jul 11. PMID 35830620, Free PMC Article
  3. Changes in cholecystokinin level in patients with gastroesophageal reflux disease on the background of type II diabetes. Sirchak YS, et al. Wiad Lek, 2018. PMID 29729168
  4. Genetic substrates of psychosis in patients with Parkinson's disease: A critical review. Lenka A, et al. J Neurol Sci, 2016 May 15. PMID 27084212
  5. Cholecystokinin in plasma predicts cardiovascular mortality in elderly females. Goetze JP, et al. Int J Cardiol, 2016 Apr 15. PMID 26878472

See all (136) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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.
  2. 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.
  3. 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.
  4. CCK regulates osteogenic differentiation through TNFalpha/NF-kappaB in peri-implantitis.
    Title: CCK regulates osteogenic differentiation through TNFα/NF-κB in peri-implantitis.
  5. 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.
  6. 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.
  7. 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.
  8. Haemodynamic changes seem to regulate regional proCCK expression in the mammalian heart.
    Title: Cardiac procholecystokinin expression during haemodynamic changes in the mammalian heart.
  9. 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.
  10. 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
EMR-linked GWAS study: investigation of variation landscape of loci for body mass index in children.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • MGC117187

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)

  1. 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

  2. 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

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

  1. NC_000003.12 Reference GRCh38.p14 Primary Assembly

    Range
    42257826..42266185 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060927.1 Alternate T2T-CHM13v2.0

    Range
    42275821..42284183 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P06307.1 GenPept UniProtKB/Swiss-Prot:P06307

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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