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    CLPS colipase [ Homo sapiens (human) ]

    Gene ID: 1208, updated on 28-Oct-2024

    Summary

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    Official Symbol
    CLPSprovided by HGNC
    Official Full Name
    colipaseprovided by HGNC
    Primary source
    HGNC:HGNC:2085
    See related
    Ensembl:ENSG00000137392 MIM:120105; AllianceGenome:HGNC:2085
    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
    The protein encoded by this gene is a cofactor needed by pancreatic lipase for efficient dietary lipid hydrolysis. It binds to the C-terminal, non-catalytic domain of lipase, thereby stabilizing an active conformation and considerably increasing the overall hydrophobic binding site. The gene product allows lipase to anchor noncovalently to the surface of lipid micelles, counteracting the destabilizing influence of intestinal bile salts. This cofactor is only expressed in pancreatic acinar cells, suggesting regulation of expression by tissue-specific elements. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011]
    Expression
    Restricted expression toward pancreas (RPKM 17741.6) See more
    Orthologs
    mouse all
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    Genomic context

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    See CLPS in Genome Data Viewer
    Location:
    6p21.31
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (35794982..35797323, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (35615336..35617677, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (35762759..35765100, complement)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17100 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:35749907-35750408 Neighboring gene colipase like 2 Neighboring gene colipase like 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17101 Neighboring gene LHFPL tetraspan subfamily member 5 Neighboring gene ReSE screen-validated silencer GRCh37_chr6:35810876-35811031 Neighboring gene SRSF protein kinase 1 Neighboring gene uncharacterized LOC124901311

    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 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. The human colipase gene: isolation, chromosomal location, and tissue-specific expression. Sims HF, et al. Biochemistry, 1992 Aug 11. PMID 1643046
    2. The Arg92Cys colipase polymorphism impairs function and secretion by increasing protein misfolding. Xiao X, et al. J Lipid Res, 2013 Feb. PMID 23204298, Free PMC Article
    3. Cloning and characterization of the human colipase cDNA. Lowe ME, et al. Biochemistry, 1990 Jan 23. PMID 2337598
    4. Procolipase gene: no association with early-onset obesity or fat intake. Wermter AK, et al. Obes Facts, 2009. PMID 20054203, Free PMC Article
    5. Genetic variability of procolipase associates with altered insulin secretion in non-diabetic Caucasians. Weyrich P, et al. Exp Clin Endocrinol Diabetes, 2009 Feb. PMID 18726866

    See all (27) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Low CLPS expression is associated with pancreatic cancer.
      Title: Integration of metabolomics and transcriptomics revealed a fatty acid network exerting growth inhibitory effects in human pancreatic cancer.
    2. humans with the Arg92Cys substitution will secrete less functional colipase
      Title: The Arg92Cys colipase polymorphism impairs function and secretion by increasing protein misfolding.
    3. found no evidence for an association of pancreatic colipase(CLPS) single nucleotide polymorphisms rs2766597, rs41270082, rs3748050, and rs3748051 with obesity or percentage of dietary fat intake
      Title: Procolipase gene: no association with early-onset obesity or fat intake.
    4. Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Procolipase gene: no association with early-onset obesity or fat intake.
    5. CLPS genetic variability associates with insulin secretory function in non-diabetic humans and may represent a novel candidate gene for development of type 2 diabetes
      Title: Genetic variability of procolipase associates with altered insulin secretion in non-diabetic Caucasians.
    6. Observational study of gene-disease association. (HuGE Navigator)
      Title: Genetic variability of procolipase associates with altered insulin secretion in non-diabetic Caucasians.
    7. Our findings demonstrate that the Arg92Cys polymorphism decreases the function of Cys92 colipase. This change may contribute to the development of type 2 diabetes.
      Title: A polymorphism in the gene encoding procolipase produces a colipase, Arg92Cys, with decreased function against long-chain triglycerides.
    8. evidence in two German Caucasian study populations that the variant of the rare colipase Arg109Cys polymorphism might contribute to increased susceptibility of type 2 diabetes
      Title: Putative association between a new polymorphism in exon 3 (Arg109Cys) of the pancreatic colipase gene and type 2 diabetes mellitus in two independent Caucasian study populations.
    Submit: New GeneRIF Correction

    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)

    Genotypes

    HIV-1 interactions

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    Protein interactions

    Protein Gene Interaction Pubs
    nucleocapsid gag HIV-1 NC upregulates pancreatic colipase in HEK 293T cells PubMed

    Go to the HIV-1, Human Interaction Database

    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

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables enzyme activator activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables lipase binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in digestion IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in lipid catabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in lipid metabolic process NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in positive regulation of catalytic activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in response to bacterium IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in response to food IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in extracellular region TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    Preferred Names
    colipase
    Names
    colipase, pancreatic
    pancreatic colipase preproprotein

    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_001252597.2 → NP_001239526.1  colipase isoform 2

      See identical proteins and their annotated locations for NP_001239526.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) contains an alternate exon compared to variant 1. Translation of variant 2 begins in the alternate exon, and the resulting isoform (2) has a shorter and distinct N-terminus compared to isoform 1.
      Source sequence(s)
      BI439786, BP322637, BP324927, BQ271978
      Consensus CDS
      CCDS75437.1
      UniProtKB/TrEMBL
      A0A087WZW1
      Related
      ENSP00000482919.1, ENST00000622413.2
      Conserved Domains (1) summary
      smart00023
      Location:15 → 98
      COLIPASE; Colipase

    2. NM_001252598.2 → NP_001239527.1  colipase isoform 3 preproprotein

      See identical proteins and their annotated locations for NP_001239527.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (3) has the same N- and C-termini but is shorter compared to isoform 1.
      Source sequence(s)
      BP321569, BP324927
      Consensus CDS
      CCDS75438.1
      UniProtKB/TrEMBL
      A0A087X0Q7, Q5U808
      Related
      ENSP00000483589.1, ENST00000616014.3
      Conserved Domains (1) summary
      smart00023
      Location:18 → 71
      COLIPASE; Colipase

    3. NM_001832.4 → NP_001823.1  colipase isoform 1 preproprotein

      See identical proteins and their annotated locations for NP_001823.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      BP324927
      Consensus CDS
      CCDS4811.1
      UniProtKB/Swiss-Prot
      P04118, Q5T9G7, Q5U809
      Related
      ENSP00000259938.2, ENST00000259938.7
      Conserved Domains (1) summary
      smart00023
      Location:18 → 112
      COLIPASE; Colipase

    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_000006.12 Reference GRCh38.p14 Primary Assembly

      Range
      35794982..35797323 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      35615336..35617677 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P04118.2 GenPept UniProtKB/Swiss-Prot:P04118

    Gene LinkOut

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

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