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    CCK cholecystokinin [ Homo sapiens (human) ]

    Gene ID: 885, updated on 10-Dec-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
    mouse all
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    Genomic context

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    See CCK in Genome Data Viewer
    Location:
    3p22.1
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (42257826..42266185, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (42275821..42284183, complement)
    RS_2024_09 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

    Bibliography

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    Related articles in PubMed

    1. Cholecystokinin C-45T polymorphism and smoking cessation in women. Ton TG, et al. Nicotine Tob Res, 2007 Jan. PMID 17365745
    2. Cholecystokinin and stomach distension combine to reduce food intake in humans. Kissileff HR, et al. Am J Physiol Regul Integr Comp Physiol, 2003 Nov. PMID 12920059
    3. Cholecystokinin pathways modulate sensations induced by gastric distension in humans. Lal S, et al. Am J Physiol Gastrointest Liver Physiol, 2004 Jul. PMID 14764444
    4. Procholecystokinin as marker of human Ewing sarcomas. Reubi JC, et al. Clin Cancer Res, 2004 Aug 15. PMID 15328192
    5. Clinical endocrinology and metabolism. Cholecystokinin. Rehfeld JF. Best Pract Res Clin Endocrinol Metab, 2004 Dec. PMID 15533776

    See all (139) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Cholecystokinin and Panic Disorder: Reflections on the History and Some Unsolved Questions.
      Title: Cholecystokinin and Panic Disorder: Reflections on the History and Some Unsolved Questions.
    2. 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.
    3. 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.
    4. 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.
    5. CCK regulates osteogenic differentiation through TNFalpha/NF-kappaB in peri-implantitis.
      Title: CCK regulates osteogenic differentiation through TNFα/NF-κB in peri-implantitis.
    6. 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.
    7. 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.
    8. 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.
    9. Haemodynamic changes seem to regulate regional proCCK expression in the mammalian heart.
      Title: Cardiac procholecystokinin expression during haemodynamic changes in the mammalian heart.
    10. 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.
    Submit: New GeneRIF Correction See all GeneRIFs (82)

    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)

    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_2024_08

    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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