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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

PCOLCE Gene

protein-coding   GIFtS: 58
GCID: GC07P100199

Procollagen C-Endopeptidase Enhancer

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Procollagen C-Endopeptidase Enhancer1 2     COOH-Terminal Proteinase Enhancer1
Procollagen C-Proteinase Enhancer 11 2 3     procollagen1
Procollagen COOH-Terminal Proteinase Enhancer 12 3     Type 11
Type 1 Procollagen C-Proteinase Enhancer Protein2 3     PCPE2
Type I Procollagen COOH-Terminal Proteinase Enhancer2 3     Procollagen C-Endopeptidase Enhancer 12
PCPE-12 3     Procollagen, Type 1, COOH-Terminal Proteinase Enhancer2
PCPE12 3     

External Ids:    HGNC: 87381   Entrez Gene: 51182   Ensembl: ENSG000001063337   OMIM: 6002705   UniProtKB: Q151133   

Export aliases for PCOLCE gene to outside databases

Previous GC identifers: GC07P098734 GC07P099797 GC07P099811 GC07P099844 GC07P100037 GC07P094831


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for PCOLCE Gene:
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)

GeneCards Summary for PCOLCE Gene: 
PCOLCE (procollagen C-endopeptidase enhancer) is a protein-coding gene. Diseases associated with PCOLCE include bone fracture, and aortic incompetence, and among its related super-pathways are Collagen formation. GO annotations related to this gene include peptidase activator activity and heparin binding. An important paralog of this gene is TLL2.

UniProtKB/Swiss-Prot: PCOC1_HUMAN, Q15113
Function: Binds to the C-terminal propeptide of type I procollagen and enhances procollagen C-proteinase activity
Function: C-terminal processed part of PCPE (CT-PCPE) may have an metalloproteinase inhibitory activity

Gene Wiki entry for PCOLCE Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000007.13  NC_018918.2  NT_007933.15  NT_079595.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the PCOLCE gene promoter:
         Sp1   Nkx2-5   NF-kappaB   GATA-1   PPAR-gamma1   FAC1   Pax-3   c-Myb   PPAR-gamma2   NF-kappaB1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): PCOLCE promoter sequence
   Search SABiosciences Chromatin IP Primers for PCOLCE

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat PCOLCE


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 7q22   Ensembl cytogenetic band:  7q22.1   HGNC cytogenetic band: 7q22

PCOLCE Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PCOLCE gene location

GeneLoc information about chromosome 7         GeneLoc Exon Structure

GeneLoc location for GC07P100199:  view genomic region     (about GC identifiers)

Start:
100,199,800 bp from pter      End:
100,205,798 bp from pter
Size:
5,999 bases      Orientation:
plus strand

1 alternative location:
Chr7+,CRA_TCAG 99,559,515-99,565,431     

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: PCOC1_HUMAN, Q15113 (See protein sequence)
Recommended Name: Procollagen C-endopeptidase enhancer 1 precursor  
Size: 449 amino acids; 47972 Da
Subcellular location: Secreted
1 PDB 3D structure from and Proteopedia for PCOLCE:
1UAP (3D)    
Secondary accessions: B2R9E1 O14550

Explore the universe of human proteins at neXtProt for PCOLCE: NX_Q15113

Explore proteomics data for PCOLCE at MOPED 

Post-translational modifications:

  • UniProtKB: C-terminally processed at multiple positions
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q15113

  • PCOLCE Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    PCOLCE Protein Expression
    REFSEQ proteins: NP_002584.2  
    ENSEMBL proteins: 
     ENSP00000223061  
    Reactome Protein details: Q15113
    Human Recombinant Protein Products for PCOLCE: 
    Browse Purified and Recombinant Proteins at EMD Millipore
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    OriGene Purified Protein for PCOLCE
    OriGene Protein Over-expression Lysate for PCOLCE
    OriGene MassSpec for PCOLCE 
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    GenScript Custom Purified and Recombinant Proteins Services for PCOLCE
    Novus Biologicals PCOLCE Protein
    Novus Biologicals PCOLCE Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp. 

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005615extracellular space IDA--
    GO:0031012colocalizes with extracellular matrix IDA--
    GO:0070062extracellular vesicular exosome IDA--

    PCOLCE for ontologies           About GeneDecksing



    PCOLCE Antibody Products: 
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    Abcam antibodies for PCOLCE
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    LSBio Antibodies in human, mouse, rat for PCOLCE 

    Assay Products for PCOLCE: 
    Browse Kits and Assays available from EMD Millipore
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    Browse CLIAs at Cloud-Clone Corp.


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    4 InterPro protein domains:
     IPR008993 TIMP-like_OB-fold
     IPR000859 CUB_dom
     IPR001134 Netrin_domain
     IPR018933 Netrin_module_non-TIMP

    Graphical View of Domain Structure for InterPro Entry Q15113

    ProtoNet protein and cluster: Q15113

    1 Blocks protein domain: IPB000859 CUB domain

    UniProtKB/Swiss-Prot: PCOC1_HUMAN, Q15113
    Similarity: Contains 2 CUB domains
    Similarity: Contains 1 NTR domain


    PCOLCE for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: PCOC1_HUMAN, Q15113
    Function: Binds to the C-terminal propeptide of type I procollagen and enhances procollagen C-proteinase activity
    Function: C-terminal processed part of PCPE (CT-PCPE) may have an metalloproteinase inhibitory activity

         Genatlas biochemistry entry for PCOLCE:
    procollagen COOH-terminal (c) proteinase,enhancer

         Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding ----
    GO:0005518collagen binding IDA12393877
    GO:0008201heparin binding IDA12393877
    GO:0016504peptidase activator activity IDA12393877
         
    PCOLCE for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for PCOLCE:
     Increased HPV18 LCR reporter a 

         3 MGI mutant phenotypes (inferred from 1 allele(MGI details for Pcolce):
     limbs/digits/tail  muscle  skeleton 

    PCOLCE for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Pcolcetm1Dgr for PCOLCE

       inGenious Targeting Laboratory - Custom generated mouse model solutions for PCOLCE 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for PCOLCE

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for PCOLCE 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for PCOLCE 

    miRNA
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    Inhib. RNA
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
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    Gene Editing
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    Clone
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    GenScript: all cDNA clones in your preferred vector: PCOLCE (NM_002593)
    Browse Sino Biological Human cDNA Clones
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PCOLCE


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for PCOLCE About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Collagen biosynthesis and modifying enzymes
    Collagen biosynthesis and modifying enzymes0.74
    Assembly of collagen fibrils and other multimeric structures0.65
    Collagen formation0.74
    Extracellular matrix organization0.39
    2Crosslinking of collagen fibrils
    Crosslinking of collagen fibrils

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    5        Reactome Pathways for PCOLCE
        Extracellular matrix organization
    Collagen biosynthesis and modifying enzymes
    Assembly of collagen fibrils and other multimeric structures
    Crosslinking of collagen fibrils
    Collagen formation



    PCOLCE for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for PCOLCE

    STRING Interaction Network Preview (showing 5 interactants - click image to see 7)

    5/8 Interacting proteins for PCOLCE (Q151133 ENSP000002230614) via UniProtKB, MINT, STRING, and/or I2D (see all 8)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    COL3A1P024613, ENSP000003044084I2D: score=2 STRING: ENSP00000304408
    COL2A1P024583, ENSP000003698894I2D: score=2 STRING: ENSP00000369889
    PLGP007473, ENSP000003089384I2D: score=1 STRING: ENSP00000308938
    PXNP490233I2D: score=1 
    ADAMTS2ENSP000002515824STRING: ENSP00000251582
    About this table

    Gene Ontology (GO): 3 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006508proteolysis IEA--
    GO:0007275multicellular organismal development TAS7523404
    GO:0010952positive regulation of peptidase activity IDA12393877

    PCOLCE for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    PCOLCE for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for PCOLCE (PCOC1)

    2 Novoseek inferred chemical compound relationships for PCOLCE gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    procollagen 91 54 12105202 (4), 15817489 (4), 18164932 (3), 19361460 (2) (see all 19)
    calcium 0 1 12105202 (1)

    Search CenterWatch for drugs/clinical trials and news about PCOLCE / PCOC1

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for PCOLCE gene: 
    NM_002593.3  

    Unigene Cluster for PCOLCE:

    Procollagen C-endopeptidase enhancer
    Hs.202097  [show with all ESTs]
    Unigene Representative Sequence: NM_002593
    10 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000223061(uc003uvo.3) ENST00000496269(uc011kkb.1) ENST00000462260
    ENST00000482863 ENST00000487172 ENST00000468214 ENST00000460002 ENST00000490909
    ENST00000486440 ENST00000472348
    miRNA
    Products:
         
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    Inhib. RNA
    Products:
         
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    OriGene RNAi products in human, mouse, rat for PCOLCE
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    Clone
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    OriGene ORF clones in mouse, rat for PCOLCE
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: PCOLCE (NM_002593)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for PCOLCE
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PCOLCE
    Sirion Biotech Customized lentivirus for stable overexpression of PCOLCE 
                         Customized lentivirus expression plasmids for stable overexpression of PCOLCE 
    Primer
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat PCOLCE
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat PCOLCE

    Additional mRNA sequence: 

    AB008549.1 AK298364.1 AK313748.1 BC000574.2 BC033205.1 L33799.1 

    17 DOTS entries:

    DT.418292  DT.100796346  DT.100796327  DT.75130262  DT.91853793  DT.100796333  DT.91767498  DT.121039642 
    DT.100753339  DT.100796334  DT.121039613  DT.95157872  DT.100038454  DT.100038457  DT.91727162  DT.91897487 
    DT.95157861 

    24/481 AceView cDNA sequences (see all 481):

    R72156 AL549857 BC033205 CR614060 CR596385 BQ020190 CR593107 BM772970 
    AI140341 CK820649 BM719084 CR592766 AI190856 AA464754 BI768129 CR606927 
    BQ673368 CA394069 BE261445 BP342258 AL551004 AA458877 CA414957 CR609482 

    GeneLoc Exon Structure

    5/8 Alternative Splicing Database (ASD) splice patterns (SP) for PCOLCE (see all 8)    About this scheme

    ExUns: 1 ^ 2a · 2b ^ 3a · 3b · 3c ^ 4 ^ 5a · 5b · 5c · 5d · 5e ^ 6 ^ 7 ^ 8a · 8b · 8c ^ 9 ^ 10a · 10b · 10c
    SP1:        -           -                 -                       -     -     -           -                                       
    SP2:                                                              -     -                 -                                       
    SP3:        -           -                 -                                                                                       
    SP4:                    -                 -                       -     -     -                                                   
    SP5:                                                                                                                              


    ECgene alternative splicing isoforms for PCOLCE

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    PCOLCE expression in normal human tissues (normalized intensities)      PCOLCE embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AAGAAAGGAG
    PCOLCE Expression
    About this image


    PCOLCE expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/17 selected tissues (see all 17) fully expand
     
     Neural Crest (Gastrulation Derivatives)    fully expand to see all 3 entries
             PureStem SK11, NCr-fac & Meso-prx Progenitor
     
     Smooth Muscle (Muscoskeletal System)    fully expand to see all 2 entries
             Human Tracheal Smooth Muscle Cells (HTSMC)   
     
     Testis (Reproductive System)    fully expand to see all 2 entries
             Testicular Interstitial Cells Testis Interstitium
     
     Fibroblast
             Human Dermal Fibroblasts-neonate (HDF-n)   
     
     Lung (Muscoskeletal System)    fully expand to see all 2 entries
             Human Tracheal Smooth Muscle Cells (HTSMC)   

    See PCOLCE Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for PCOLCE

    SOURCE GeneReport for Unigene cluster: Hs.202097
        SABiosciences Custom PCR Arrays for PCOLCE
    Primer
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    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat PCOLCE
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PCOLCE

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for PCOLCE gene from 3/9 species (see all 9)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Pcolce1 , 5 procollagen C-endopeptidase enhancer protein1, 5 83.78(n)1
    85.36(a)1
      5 (76.59 cM)5
    185421  NM_008788.21  NP_032814.21 
     1376051035 
    zebrafish
    (Danio rerio)
    Actinopterygii si:ch211-237l4.51 si:ch211-237l4.5 56.12(n)
    51.82(a)
      563867  NM_001030181.2  NP_001025352.2 
    worm
    (Caenorhabditis elegans)
    Secernentea nas-396
    Zinc metalloproteinase nas-39
    10(a)
    1 → many
    X(16456927-16471322)


    ENSEMBL Gene Tree for PCOLCE (if available)
    TreeFam Gene Tree for PCOLCE (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for PCOLCE gene
    TLL22  CUBN2  CDCP22  BMP12  PCOLCE22  NETO22  MFRP2  NETO12  
    TLL12  
    6 SIMAP similar genes for PCOLCE using alignment to 2 protein entries:     PCOC1_HUMAN (see all proteins):
    PCOLCE2    NRP2    CUBN    DKFZp781F1053    NRP1    DKFZp686L21135

    PCOLCE for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/94 SNPs in PCOLCE are shown (see all 94)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 7 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1457722181,2
    C--100203695(+) GCCTGG/TAATCA 1 -- int10--------
    rs2021163361,2
    --100203999(+) ACGCCC/TGCCCT 1 -- int10--------
    rs1477042941,2
    C--100204099(+) GTCACC/TGCTGA 2 T syn11Minor allele frequency- T:0.00NA 4552
    rs1895240541,2
    --100204123(+) TCCTAC/TAAGAC 2 Y syn10--------
    rs1423352291,2
    C,F--100204134(+) CCTGCC/AGCGGG 2 /Q /P mis11Minor allele frequency- A:0.00NA 4544
    rs1122852241,2
    C,F--100204137(+) GCCGCG/AGGGCA 2 /Q /R mis12Minor allele frequency- A:0.00NA EU 5855
    rs1807060031,2
    C--100204209(+) CCCCAA/GGTCCC 2 K R mis10--------
    rs1136836831,2
    C--100204254(+) CCCTGA/C/GTGAGT 1 -- spd11CSA 1
    rs1857175911,2
    C--100204288(+) ACAGAC/TTGAAG 1 -- int10--------
    rs1904328601,2
    --100204336(+) CACACA/CTGTAA 1 -- int10--------

    HapMap Linkage Disequilibrium report for PCOLCE (100199800 - 100205798 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 8 variations for PCOLCE:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2734888CNV Deletion23290073
    esv2659884CNV Deletion23128226
    dgv7398n71CNV Loss21882294
    nsv888779CNV Loss21882294
    dgv7399n71CNV Loss21882294
    nsv831072CNV Loss17160897
    nsv5868CNV Loss18451855
    nsv888790CNV Gain21882294


    Human Gene Mutation Database (HGMD): PCOLCE
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing PCOLCE
    DNA2.0 Custom Variant and Variant Library Synthesis for PCOLCE

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 600270    OMIM disorders: --

    7 diseases for PCOLCE:    About MalaCards
    bone fracture    aortic incompetence    temporal lobe epilepsy    gastroenteritis
    ehlers-danlos syndrome    cervical cancer    cervicitis


    PCOLCE for disorders           About GeneDecksing


    Export disorders for PCOLCE gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for PCOLCE gene, integrated from 9 sources (see all 37):
    (articles sorted by number of sources associating them with PCOLCE)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Large-scale sequencing of two regions in human chromosome 7q22: analysis of 650 kb of genomic sequence around the EPO and CUTL1 loci reveals 17 genes. (PubMed id 9799793)1, 2, 3 Gloeckner G.... Rosenthal A. (1998)
    2. Structural organization and expression patterns of the human and mouse genes for the type I procollagen COOH-terminal proteinase enhancer protein. (PubMed id 9933570)1, 2, 9 Scott I.C.... Greenspan D.S. (1999)
    3. Type I procollagen COOH-terminal proteinase enhancer protein: identification, primary structure, and chromosomal localization of the cognate human gene (PCOLCE). (PubMed id 7523404)1, 2, 9 Takahara K.... Greenspan D.S. (1994)
    4. Fine mapping of the human and mouse genes for the type I procollagen COOH-terminal proteinase enhancer protein. (PubMed id 8824813)1, 3, 9 Takahara K....Greenspan D.S. (1996)
    5. Post-translational proteolytic processing of procollagen C-terminal proteinase enhancer releases a metalloproteinase inhibitor. (PubMed id 10625689)1, 2, 9 Mott J.D....Banda M.J. (2000)
    6. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    7. 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. (PubMed id 12670942)1, 2 Liepinsh E....Otting G. (2003)
    8. Procollagen C-proteinase enhancer-1 (PCPE-1) interacts with beta2-microglobulin (beta2-m) and may help initiate beta2-m amyloid fibril formation in connective tissues. (PubMed id 18164932)1, 9 Morimoto H....Makino H. (2008)
    9. Identification of the minimal domain structure of bone morphogenetic protein-1 (BMP-1) for chordinase activity: chordinase activity is not enhanced by procollagen C-proteinase enhancer-1 (PCPE-1). (PubMed id 15817489)1, 9 Petropoulou V....Kadler K.E. (2005)
    10. Interaction properties of the procollagen C-proteinase enhancer protein shed light on the mechanism of stimulation of BMP-1. (PubMed id 12105202)1, 9 Ricard-Blum S....Hulmes D.J. (2002)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
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      Query String
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      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 5118 HGNC: 8738 AceView: PCOLCE Ensembl:ENSG00000106333 euGenes: HUgn5118
    ECgene: PCOLCE H-InvDB: PCOLCE

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for PCOLCE Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for PCOLCE gene:
    Search GeneIP for patents involving PCOLCE

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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