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    PCOLCE procollagen C-endopeptidase enhancer [ Homo sapiens (human) ]

    Gene ID: 5118, updated on 22-Apr-2017
    Official Symbol
    PCOLCEprovided by HGNC
    Official Full Name
    procollagen C-endopeptidase enhancerprovided by HGNC
    Primary source
    HGNC:HGNC:8738
    See related
    Ensembl:ENSG00000106333 MIM:600270; Vega:OTTHUMG00000156675
    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
    Also known as
    PCPE; PCPE1; PCPE-1
    Summary
    Fibrillar collagen types I-III are synthesized as precursor molecules known as procollagens. These precursors contain amino- and carboxyl-terminal peptide extensions known as N- and C-propeptides, respectively, which are cleaved, upon secretion of procollagen from the cell, to yield the mature triple helical, highly structured fibrils. This gene encodes a glycoprotein which binds and drives the enzymatic cleavage of type I procollagen and heightens C-proteinase activity. [provided by RefSeq, Jul 2008]
    Orthologs
    Location:
    7q22.1
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 7 NC_000007.14 (100602259..100608175)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (100199882..100205798)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene leucine rich repeats and calponin homology domain containing 4 Neighboring gene ZO-2 associated speckle protein Neighboring gene F-box protein 24 Neighboring gene PCOLCE antisense RNA 1 Neighboring gene motile sperm domain containing 3 Neighboring gene transferrin receptor 2

    • 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 Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    • Assembly of collagen fibrils and other multimeric structures, organism-specific biosystem (from REACTOME)
      Assembly of collagen fibrils and other multimeric structures, organism-specific biosystemCollagen trimers in triple-helical form, referred to as procollagen or collagen molecules, are exported from the ER and trafficked through the Golgi network before secretion into the extracellular sp...
    • Collagen biosynthesis and modifying enzymes, organism-specific biosystem (from REACTOME)
      Collagen biosynthesis and modifying enzymes, organism-specific biosystemThe biosynthesis of collagen is a multistep process. Collagen propeptides are cotranslationally translocated into the ER lumen. Propeptides undergo a number of post-translational modifications. Proli...
    • Collagen formation, organism-specific biosystem (from REACTOME)
      Collagen formation, organism-specific biosystemCollagen is a family of at least 29 structural proteins derived from over 40 human genes (Myllyharju & Kivirikko 2004). It is the main component of connective tissue, and the most abundant protein in...
    • Crosslinking of collagen fibrils, organism-specific biosystem (from REACTOME)
      Crosslinking of collagen fibrils, organism-specific biosystemAfter removal of the N- and C-procollagen propeptides, fibrillar collagen molecules aggregate into microfibrillar arrays, stabilized by covalent intermolecular cross-links. These depend on the oxidat...
    • Extracellular matrix organization, organism-specific biosystem (from REACTOME)
      Extracellular matrix organization, organism-specific biosystemThe extracellular matrix is a component of all mammalian tissues, a network consisting largely of the fibrous proteins collagen, elastin and associated-microfibrils, fibronectin and laminins embedded...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    collagen binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    heparin binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    peptidase activator activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    multicellular organism development TAS
    Traceable Author Statement
    more info
    PubMed 
    positive regulation of peptidase activity IEA
    Inferred from Electronic Annotation
    more info
     
    proteolysis IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    extracellular exosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    colocalizes_with extracellular matrix IDA
    Inferred from Direct Assay
    more info
    PubMed 
    extracellular space IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Preferred Names
    procollagen C-endopeptidase enhancer 1
    Names
    procollagen C-proteinase enhancer 1
    procollagen COOH-terminal proteinase enhancer 1
    procollagen, type 1, COOH-terminal proteinase enhancer
    type 1 procollagen C-proteinase enhancer protein
    type I procollagen COOH-terminal proteinase enhancer

    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_002593.3NP_002584.2  procollagen C-endopeptidase enhancer 1 precursor

      See identical proteins and their annotated locations for NP_002584.2

      Status: REVIEWED

      Source sequence(s)
      BC000574, BC033205, BI837971
      Consensus CDS
      CCDS5700.1
      UniProtKB/Swiss-Prot
      Q15113
      Related
      ENSP00000223061.5, OTTHUMP00000210409, ENST00000223061.5, OTTHUMT00000345285
      Conserved Domains (2) summary
      cd00041
      Location:37147
      CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.
      cd03576
      Location:313437
      NTR_PCOLCE; NTR domain, PCOLCE subfamily; Procollagen C-endopeptidase enhancers (PCOLCEs) are extracellular matrix proteins that enhance the activity of procollagen C-proteases, by binding to the procollagen I C-peptide. They contain a C-terminal NTR domain, which ...

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000007.14 Reference GRCh38.p7 Primary Assembly

      Range
      100602259..100608175
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018918.2 Alternate CHM1_1.1

      Range
      100130452..100136368
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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