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    CLPSL1 colipase like 1 [ Homo sapiens (human) ]

    Gene ID: 340204, updated on 5-Mar-2024

    Summary

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    Official Symbol
    CLPSL1provided by HGNC
    Official Full Name
    colipase like 1provided by HGNC
    Primary source
    HGNC:HGNC:21251
    See related
    Ensembl:ENSG00000204140 AllianceGenome:HGNC:21251
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    ESP32; C6orf127; dJ510O8.6
    Summary
    Predicted to enable enzyme activator activity. Predicted to be involved in response to food. Predicted to be located in extracellular region. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Restricted expression toward pancreas (RPKM 4.4) See more
    Orthologs
    all
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    Genomic context

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    Location:
    6p21.31
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (35781019..35794039)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (35601370..35614393)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (35748796..35761763)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene MPRA-validated peak5777 silencer Neighboring gene CMPK1 pseudogene 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24413 Neighboring gene MPRA-validated peak5778 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24414 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17100 Neighboring gene colipase like 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:35749907-35750408 Neighboring gene colipase Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17101 Neighboring gene LHFPL tetraspan subfamily member 5

    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. Transcriptome analysis of a cDNA library from adult human epididymis. Li JY, et al. DNA Res, 2008 Jun 30. PMID 18390568, Free PMC Article
    2. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. Kimura K, et al. Genome Res, 2006 Jan. PMID 16344560, Free PMC Article
    3. The BioPlex Network: A Systematic Exploration of the Human Interactome. Huttlin EL, et al. Cell, 2015 Jul 16. PMID 26186194, Free PMC Article
    4. Architecture of the human interactome defines protein communities and disease networks. Huttlin EL, et al. Nature, 2017 May 25. PMID 28514442, Free PMC Article
    5. Dual proteome-scale networks reveal cell-specific remodeling of the human interactome. Huttlin EL, et al. Cell, 2021 May 27. PMID 33961781, Free PMC Article

    See all (7) citations in PubMed

    GeneRIFs: Gene References Into Functions

    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

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables enzyme activator activity 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 response to food IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in extracellular region IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    colipase-like protein 1
    Names
    colipase-like protein C6orf127

    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_001010886.5 → NP_001010886.1  colipase-like protein 1 isoform 1 precursor

      See identical proteins and their annotated locations for NP_001010886.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      BX106742, DQ823638, DV643925
      Consensus CDS
      CCDS43456.1
      UniProtKB/Swiss-Prot
      A2RUU4, A7E2T6, B2RPE2, B5G4V2, B6ZDM9, Q5T9G1
      Related
      ENSP00000362968.5, ENST00000373861.6
      Conserved Domains (1) summary
      cl24053
      Location:23 → 110
      COLIPASE; Colipase; a stoichiometric cofactor for pancreatic lipase, allowing the enzyme to anchor itself to the water-lipid interface and stabilizing the active enzyme conformation

    2. NM_001348773.2 → NP_001335702.1  colipase-like protein 1 isoform 2 precursor

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 3' UTR and coding sequence compared to variant 1. The resulting isoform (2) has a shorter and distinct C-terminus compared to isoform 1.
      Source sequence(s)
      AL157823
      Conserved Domains (1) summary
      cl24053
      Location:23 → 74
      COLIPASE; Colipase; a stoichiometric cofactor for pancreatic lipase, allowing the enzyme to anchor itself to the water-lipid interface and stabilizing the active enzyme conformation

    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_000006.12 Reference GRCh38.p14 Primary Assembly

      Range
      35781019..35794039
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017010821.2 → XP_016866310.1  colipase-like protein 1 isoform X2

    2. XM_017010820.2 → XP_016866309.1  colipase-like protein 1 isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      35601370..35614393
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054355319.1 → XP_054211294.1  colipase-like protein 1 isoform X2

    2. XM_054355318.1 → XP_054211293.1  colipase-like protein 1 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    A2RUU4.1 GenPept UniProtKB/Swiss-Prot:A2RUU4

    Gene LinkOut

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

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