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

    Gene ID: 5118, updated on 2-Nov-2024

    Summary

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    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; AllianceGenome:HGNC:8738
    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]
    Expression
    Ubiquitous expression in gall bladder (RPKM 64.6), endometrium (RPKM 44.2) and 21 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See PCOLCE in Genome Data Viewer
    Location:
    7q22.1
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (100602363..100608175)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (101842444..101848256)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (100199986..100205798)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:100172387-100172941 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:100172942-100173495 Neighboring gene leucine rich repeats and calponin homology domain containing 4 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:100181227-100181915 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:100182061-100182574 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:100182575-100183088 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18445 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18446 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18447 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:100187581-100188381 Neighboring gene PCOLCE antisense RNA 1 Neighboring gene F-box protein 24 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:100201095-100201887 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18448 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18449 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26375 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26376 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26377 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18450 Neighboring gene motile sperm domain containing 3 Neighboring gene uncharacterized LOC124901709 Neighboring gene uncharacterized LOC124901710 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:100224056-100224820 Neighboring gene transferrin receptor 2

    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. High expression of PCOLCE gene indicate poor prognosis in patients and are associated with immune infiltration in glioma. Guo Q, et al. Sci Rep, 2023 Mar 7. PMID 36882457, Free PMC Article
    2. PCOLCE deletion and expression analyses in uterine leiomyomata. Ligon AH, et al. Cancer Genet Cytogenet, 2002 Sep. PMID 12393284
    3. Low resolution structure determination shows procollagen C-proteinase enhancer to be an elongated multidomain glycoprotein. Bernocco S, et al. J Biol Chem, 2003 Feb 28. PMID 12486138
    4. NMR structure of the netrin-like domain (NTR) of human type I procollagen C-proteinase enhancer defines structural consensus of NTR domains and assesses potential proteinase inhibitory activity and ligand binding. Liepinsh E, et al. J Biol Chem, 2003 Jul 11. PMID 12670942
    5. Insights into how CUB domains can exert specific functions while sharing a common fold: conserved and specific features of the CUB1 domain contribute to the molecular basis of procollagen C-proteinase enhancer-1 activity. Blanc G, et al. J Biol Chem, 2007 Jun 8. PMID 17446170

    See all (52) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. SOX9 Promotes Collagen VI Secretion by Upregulating PCOLCE in Neurofibroma.
      Title: SOX9 Promotes Collagen VI Secretion by Upregulating PCOLCE in Neurofibroma.
    2. High expression of PCOLCE gene indicate poor prognosis in patients and are associated with immune infiltration in glioma.
      Title: High expression of PCOLCE gene indicate poor prognosis in patients and are associated with immune infiltration in glioma.
    3. A pan-cancer analysis of the oncogenic role of procollagen C-endopeptidase enhancer (PCOLCE) in human.
      Title: A pan-cancer analysis of the oncogenic role of procollagen C-endopeptidase enhancer (PCOLCE) in human.
    4. Expression of procollagen C-proteinase enhancer 1 in human trabecular meshwork tissues and cells.
      Title: Expression of procollagen C-proteinase enhancer 1 in human trabecular meshwork tissues and cells.
    5. Procollagen C-proteinase enhancer-1 and renal failure in multiple myeloma.
      Title: Procollagen C-proteinase enhancer-1 and renal failure in multiple myeloma.
    6. Procollagen C-Proteinase Enhancer-1 (PCPE-1) deficiency in mice reduces liver fibrosis but not NASH progression.
      Title: Procollagen C-Proteinase Enhancer-1 (PCPE-1) deficiency in mice reduces liver fibrosis but not NASH progression.
    7. Up-regulation of PCOLCE by TWIST1 promotes metastasis in Osteosarcoma.
      Title: Up-regulation of PCOLCE by TWIST1 promotes metastasis in Osteosarcoma.
    8. PCPE-1 levels are elevated in chronic kidney disease patients and that this elevation associated with declining glomerular filtration rate.
      Title: Elevated serum levels of procollagen C-proteinase enhancer-1 in patients with chronic kidney disease is associated with a declining glomerular filtration rate.
    9. Study shows that the two CUB domains bind to two different chains of C-propeptide trimer of procollagen III (CPIII) and that the N-terminal region of one CPIII chain, close to the proteolytic cleavage site, lies in the cleft between CUB1 and CUB2. This suggests that enhancing activity involves unraveling of this chain from the rest of the trimer, thus facilitating the action of the proteinase involved.
      Title: Structural Basis for the Acceleration of Procollagen Processing by Procollagen C-Proteinase Enhancer-1.
    10. Serum PCPE-1 might be used as a noninvasive marker of liver fibrosis in chronic hepatitis B.
      Title: Evaluation of serum procollagen C-proteinase enhancer 1 level as a fibrosis marker in patients with chronic hepatitis B.
    Submit: New GeneRIF Correction See all GeneRIFs (30)

    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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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables collagen binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables collagen binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables extracellular matrix structural constituent RCA
    inferred from Reviewed Computational Analysis
    more info
    		 PubMed 
    enables heparin binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables peptidase activator activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables peptidase activator activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in collagen biosynthetic process TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in proteolysis IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    colocalizes_with collagen-containing extracellular matrix HDA PubMed 
    located_in extracellular exosome HDA PubMed 
    located_in extracellular region HDA PubMed 
    located_in extracellular space HDA PubMed 

    General protein information

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    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

    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_002593.4 → NP_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
      B2R9E1, O14550, Q15113
      UniProtKB/TrEMBL
      A4D2D2
      Related
      ENSP00000223061.5, ENST00000223061.6
      Conserved Domains (2) summary
      cd00041
      Location:37 → 147
      CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.
      cd03576
      Location:313 → 437
      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: 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_000007.14 Reference GRCh38.p14 Primary Assembly

      Range
      100602363..100608175
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060931.1 Alternate T2T-CHM13v2.0

      Range
      101842444..101848256
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q15113.2 GenPept UniProtKB/Swiss-Prot:Q15113

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