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Aliases for PCOLCE Gene

Aliases for PCOLCE Gene

  • Procollagen C-Endopeptidase Enhancer 2 3
  • Procollagen C-Proteinase Enhancer 1 2 3 4
  • Type I Procollagen COOH-Terminal Proteinase Enhancer 3 4
  • Type 1 Procollagen C-Proteinase Enhancer Protein 3 4
  • Procollagen COOH-Terminal Proteinase Enhancer 1 3 4
  • PCPE-1 3 4
  • PCPE1 3 4
  • Procollagen, Type 1, COOH-Terminal Proteinase Enhancer 3
  • Procollagen C-Endopeptidase Enhancer 1 3
  • COOH-Terminal Proteinase Enhancer 2
  • Procollagen 2
  • Type 1 2
  • PCPE 3

External Ids for PCOLCE Gene

Previous GeneCards Identifiers for PCOLCE Gene

  • GC07P098734
  • GC07P099797
  • GC07P099811
  • GC07P099844
  • GC07P100037
  • GC07P100199
  • GC07P094831

Summaries for PCOLCE Gene

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. Among its related pathways are Degradation of the extracellular matrix and Collagen biosynthesis and modifying enzymes. GO annotations related to this gene include heparin binding and peptidase activator activity. An important paralog of this gene is TLL1.

UniProtKB/Swiss-Prot for PCOLCE Gene

  • Binds to the C-terminal propeptide of type I procollagen and enhances procollagen C-proteinase activity

  • C-terminal processed part of PCPE (CT-PCPE) may have an metalloproteinase inhibitory activity

Gene Wiki entry for PCOLCE Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PCOLCE Gene

Genomics for PCOLCE Gene

Regulatory Elements for PCOLCE Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for PCOLCE Gene

Start:
100,602,177 bp from pter
End:
100,608,175 bp from pter
Size:
5,999 bases
Orientation:
Plus strand

Genomic View for PCOLCE Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for PCOLCE Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PCOLCE Gene

Proteins for PCOLCE Gene

  • Protein details for PCOLCE Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q15113-PCOC1_HUMAN
    Recommended name:
    Procollagen C-endopeptidase enhancer 1
    Protein Accession:
    Q15113
    Secondary Accessions:
    • B2R9E1
    • O14550

    Protein attributes for PCOLCE Gene

    Size:
    449 amino acids
    Molecular mass:
    47972 Da
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for PCOLCE Gene

neXtProt entry for PCOLCE Gene

Proteomics data for PCOLCE Gene at MOPED

Post-translational modifications for PCOLCE Gene

Other Protein References for PCOLCE Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

Antibody Products

No data available for DME Specific Peptides for PCOLCE Gene

Domains for PCOLCE Gene

Protein Domains for PCOLCE Gene

Suggested Antigen Peptide Sequences for PCOLCE Gene

Graphical View of Domain Structure for InterPro Entry

Q15113

UniProtKB/Swiss-Prot:

PCOC1_HUMAN :
  • Q15113
Domain:
  • Contains 2 CUB domains.
  • Contains 1 NTR domain.
genes like me logo Genes that share domains with PCOLCE: view

No data available for Gene Families for PCOLCE Gene

Function for PCOLCE Gene

Molecular function for PCOLCE Gene

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

Gene Ontology (GO) - Molecular Function for PCOLCE Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 24117177
GO:0005518 collagen binding IDA 12393877
GO:0008201 heparin binding IDA 12393877
GO:0016504 peptidase activator activity IDA 12393877
genes like me logo Genes that share ontologies with PCOLCE: view

Phenotypes for PCOLCE Gene

genes like me logo Genes that share phenotypes with PCOLCE: view

Animal Models for PCOLCE Gene

MGI Knock Outs for PCOLCE:

Animal Model Products

miRNA Products

Inhibitory RNA Products

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

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targeting and HOMER Transcription for PCOLCE Gene

Localization for PCOLCE Gene

Subcellular locations from UniProtKB/Swiss-Prot for PCOLCE Gene

Secreted.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for PCOLCE Gene COMPARTMENTS Subcellular localization image for PCOLCE gene
Compartment Confidence
extracellular 5
nucleus 3
plasma membrane 3
cytosol 2

Gene Ontology (GO) - Cellular Components for PCOLCE Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005615 extracellular space IDA 20551380
GO:0031012 colocalizes_with extracellular matrix IDA 20551380
GO:0070062 extracellular exosome IDA 21362503
genes like me logo Genes that share ontologies with PCOLCE: view

Pathways for PCOLCE Gene

genes like me logo Genes that share pathways with PCOLCE: view

Gene Ontology (GO) - Biological Process for PCOLCE Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006508 proteolysis IEA --
GO:0007275 multicellular organismal development TAS 7523404
GO:0010952 positive regulation of peptidase activity IEA --
genes like me logo Genes that share ontologies with PCOLCE: view

Compounds for PCOLCE Gene

(2) Novoseek inferred chemical compound relationships for PCOLCE Gene

Compound -log(P) Hits PubMed IDs
procollagen 91 31
calcium 0 1
genes like me logo Genes that share compounds with PCOLCE: view

Transcripts for PCOLCE Gene

Unigene Clusters for PCOLCE Gene

Procollagen C-endopeptidase enhancer:
Representative Sequences:

miRNA Products

Inhibitory RNA Products

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

Primer Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for PCOLCE Gene

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:
SP6: - -
SP7:
SP8: - - - - -

Relevant External Links for PCOLCE Gene

GeneLoc Exon Structure for
PCOLCE
ECgene alternative splicing isoforms for
PCOLCE

Expression for PCOLCE Gene

mRNA expression in normal human tissues for PCOLCE Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues for PCOLCE Gene

This gene is overexpressed in Synovial fluid (16.0), Cerebrospinal fluid (10.8), and Urine (7.0).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for PCOLCE Gene

SOURCE GeneReport for Unigene cluster for PCOLCE Gene Hs.202097

genes like me logo Genes that share expressions with PCOLCE: view

Expression partners for PCOLCE Gene

In Situ Assay Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for PCOLCE Gene

Orthologs for PCOLCE Gene

This gene was present in the common ancestor of animals.

Orthologs for PCOLCE Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia PCOLCE 35
  • 86.82 (n)
  • 85.68 (a)
PCOLCE 36
  • 82 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PCOLCE 35
  • 87.65 (n)
  • 88.17 (a)
PCOLCE 36
  • 86 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Pcolce 35
  • 83.78 (n)
  • 85.36 (a)
Pcolce 16
Pcolce 36
  • 81 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia PCOLCE 35
  • 99.55 (n)
  • 99.55 (a)
PCOLCE 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Pcolce 35
  • 83.33 (n)
  • 86.14 (a)
oppossum
(Monodelphis domestica)
Mammalia PCOLCE 36
  • 68 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 22 (a)
ManyToMany
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 6 (a)
ManyToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia pcolce 35
  • 58.81 (n)
  • 52.59 (a)
zebrafish
(Danio rerio)
Actinopterygii si:ch211-237l4.5 35
  • 55.42 (n)
  • 50.97 (a)
PCOLCE (1 of 2) 36
  • 39 (a)
OneToMany
PCOLCE (2 of 2) 36
  • 43 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta CG32702 36
  • 3 (a)
ManyToMany
CG42255 36
  • 3 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea ZC116.3 36
  • 2 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 33 (a)
OneToMany
Species with no ortholog for PCOLCE:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for PCOLCE Gene

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

Paralogs for PCOLCE Gene

Paralogs for PCOLCE Gene

Selected SIMAP similar genes for PCOLCE Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with PCOLCE: view

Variants for PCOLCE Gene

Sequence variations from dbSNP and Humsavar for PCOLCE Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type MAF
rs1053491 -- 100,608,145(+) TCTTT(C/T)TTATC utr-variant-3-prime
rs1801804 -- 100,608,068(+) GCCCC(C/T)CTCAA missense, reference
rs2734882 -- 100,608,506(-) tcacc(G/T)cagtc downstream-variant-500B
rs2734883 -- 100,607,059(-) agttg(A/G)agtgc intron-variant
rs3180769 -- 100,608,173(+) ATGAG(A/G)AATGG utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for PCOLCE Gene

Variant ID Type Subtype PubMed ID
esv2734888 CNV Deletion 23290073
dgv7398n71 CNV Loss 21882294
nsv888779 CNV Loss 21882294
dgv7399n71 CNV Loss 21882294
nsv831072 CNV Loss 17160897
nsv5868 CNV Loss 18451855
esv2659884 CNV Deletion 23128226
nsv888790 CNV Gain 21882294

Relevant External Links for PCOLCE Gene

HapMap Linkage Disequilibrium report
PCOLCE
Human Gene Mutation Database (HGMD)
PCOLCE

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PCOLCE Gene

Disorders for PCOLCE Gene

MalaCards: The human disease database

MalaCards: The human disease database.

Search for PCOLCE Gene in MalaCards »

(2) Diseases for PCOLCE Gene including...

genes like me logo Genes that share disorders with PCOLCE: view

No data available for OMIM , UniProtKB/Swiss-Prot , University of Copenhagen DISEASES , Novoseek inferred disease relationships , Genatlas and External Links for PCOLCE Gene

Publications for PCOLCE Gene

  1. Structural organization and expression patterns of the human and mouse genes for the type I procollagen COOH-terminal proteinase enhancer protein. (PMID: 9933570) Scott I.C. … Greenspan D.S. (Genomics 1999) 3 4 23
  2. Post-translational proteolytic processing of procollagen C-terminal proteinase enhancer releases a metalloproteinase inhibitor. (PMID: 10625689) Mott J.D. … Banda M.J. (J. Biol. Chem. 2000) 3 4 23
  3. Type I procollagen COOH-terminal proteinase enhancer protein: identification, primary structure, and chromosomal localization of the cognate human gene (PCOLCE). (PMID: 7523404) Takahara K. … Greenspan D.S. (J. Biol. Chem. 1994) 3 4 23
  4. Fine mapping of the human and mouse genes for the type I procollagen COOH-terminal proteinase enhancer protein. (PMID: 8824813) Takahara K. … Greenspan D.S. (Genomics 1996) 2 3 23
  5. 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. (PMID: 9799793) Gloeckner G. … Rosenthal A. (Genome Res. 1998) 2 3 4

Products for PCOLCE Gene

Sources for PCOLCE Gene

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