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PCOLCE Gene

protein-coding   GIFtS: 58
GCID: GC07P100199

Procollagen C-Endopeptidase Enhancer

  See PCOLCE-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)
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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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 oculopharyngeal muscular dystrophy. 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000007.14  NC_018918.2  NT_007933.16  
Regulatory elements:
   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 Chromatin IP Primers for PCOLCE

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: PCOC1_HUMAN, Q15113 (See protein sequence)
Recommended Name: Procollagen C-endopeptidase enhancer 1 precursor  
Size: 449 amino acids; 47972 Da
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: 

  • C-terminally processed at multiple positions1
  • Glycosylation2 at Asn29, Asn431
  • Modification sites at PhosphoSitePlus

  • See PCOLCE Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_002584.2  
    ENSEMBL proteins: 
     ENSP00000223061  
    Reactome Protein details: Q15113

    PCOLCE Human Recombinant Protein Products:

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    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp.

     
    Search eBioscience for Proteins for PCOLCE 

    PCOLCE Antibody Products:

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    Search eBioscience for ELISAs for PCOLCE 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    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


    Find genes that share domains with PCOLCE           About GenesLikeMe


    (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,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    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:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI--
    GO:0005518collagen binding IDA12393877
    GO:0008201heparin binding IDA12393877
    GO:0016504peptidase activator activity IDA12393877
         
    Find genes that share ontologies with PCOLCE           About GenesLikeMe


    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 

    Find genes that share phenotypes with PCOLCE           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Pcolcetm1Dgr for PCOLCE

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for PCOLCE
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models 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

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    Predesigned siRNA for gene silencing in human, mouse, rat PCOLCE

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    GenScript: all cDNA clones in your preferred vector: PCOLCE (NM_002593)
    Sino Biological Human cDNA Clone for PCOLCE
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PCOLCE

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PCOLCE


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    PCOC1_HUMAN, Q15113: Secreted
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    extracellular5
    nucleus3
    plasma membrane3
    cytosol2

    Gene Ontology (GO): 3 cellular component terms:    About this table

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

    Find genes that share ontologies with PCOLCE           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for PCOLCE About    
    See pathways by source

    SuperPathContained pathways About
    1Collagen biosynthesis and modifying enzymes
    Collagen biosynthesis and modifying enzymes0.75
    Assembly of collagen fibrils and other multimeric structures0.62
    Collagen formation0.75
    Crosslinking of collagen fibrils0.00
    2Degradation of the extracellular matrix
    Extracellular matrix organization0.34


    Find genes that share SuperPaths with PCOLCE           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways



    2 Reactome Pathways for PCOLCE
        Collagen biosynthesis and modifying enzymes
    Crosslinking of collagen fibrils


        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for PCOLCE
    Interactions:

        GeneGlobe Interaction Network for PCOLCE

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

    Selected 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 
    ADAMTS14ENSP000003623044STRING: ENSP00000362304
    About this table

    Gene Ontology (GO): 3 biological process terms:    About this table

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

    Find genes that share ontologies with PCOLCE           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    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)



    Find genes that share compounds with PCOLCE           About GenesLikeMe



    (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,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    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
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      QuantiTect SYBR Green Assays in human, mouse, rat PCOLCE
      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 

    Selected AceView cDNA sequences (see all 481):

    BF516314 BI520001 BQ673368 BP373398 C01002 AL547344 AU117731 CR621466 
    BQ020190 CN482424 CR623834 CK820649 CA391456 BM709132 CR610789 CR614060 
    BM719084 AU123785 CR609011 AL554314 BE261977 AL549857 CR623911 Z39517 

    GeneLoc Exon Structure

    Selected 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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    PCOLCE expression in normal human tissues (normalized intensities)
    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
     selected tissues (see all 12) fully expand
     
     Neural Crest (Gastrulation Derivatives)    fully expand to see all 3 entries
             PureStem SK11, NCr-fac & Meso-prx Progenitor
     
     Testis (Reproductive System)    fully expand to see all 2 entries
             Testicular Interstitial Cells Testis Interstitium
     
     Dermis (Integumentary System)    fully expand to see all 2 entries
             Zigzag Dermal Papilla Cells Dermal Papilla
     
     Kidney (Urinary System)
             Ureteric Bud Cells Ureteric Bud
     
     Mesoderm (Gastrulation Derivatives)
             PureStem 7SMOO32, NCr-fac & Meso Progenitor
    PCOLCE Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    PCOLCE Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.202097
        Custom PCR Arrays for PCOLCE
    Primer
    Products:
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    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)
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    This gene was present in the common ancestor of animals.

    Orthologs for PCOLCE gene from Selected species (see all 13)    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 
    lizard
    (Anolis carolinensis)
    Reptilia --
    Uncharacterized protein
    6(a)
    many ↔ many
    6(18373627-18434462)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia pcolce1 procollagen C-endopeptidase enhancer 58.81(n)
    52.59(a)
      493519  NM_001008156.1  NP_001008157.1 
    zebrafish
    (Danio rerio)
    Actinopterygii si:ch211-237l4.51 si:ch211-237l4.5 55.42(n)
    50.97(a)
      563867  NM_001030181.2  NP_001025352.2 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG422556
    CG327026
    --
    3(a)
    3(a)
    many ↔ many
    many ↔ many
    3L(11795051-11807855)
    X(9452698-9465341)
    worm
    (Caenorhabditis elegans)
    Secernentea ZC116.36
    Protein ZC116.3 (ZC116.3) mRNA, complete cds
    2(a)
    1 → many
    V(12611329-12628738) WBGene00013855


    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)
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    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

    Find genes that share paralogs with PCOLCE           About GenesLikeMe



    (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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for PCOLCE (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
    Site Specific Mutation Identification with 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, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 600270    OMIM disorders: --

    2 diseases for PCOLCE:    
    About MalaCards
    bone fracture    oculopharyngeal muscular dystrophy


    Find genes that share disorders with PCOLCE           About GenesLikeMe


    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)
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    PubMed articles for PCOLCE gene, integrated from 10 sources (see all 39):
    (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. (Genome Res. 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. (Genomics 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. (J. Biol. Chem. 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. (Genomics 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. (J. Biol. Chem. 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. (Genome Res. 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. (J. Biol. Chem. 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. (Matrix Biol. 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. (J. Biol. Chem. 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. (J. Biol. Chem. 2002)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (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)
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    Entrez Gene: 5118 HGNC: 8738 AceView: PCOLCE Ensembl:ENSG00000106333 euGenes: HUgn5118
    ECgene: PCOLCE H-InvDB: PCOLCE

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    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.)
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    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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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