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Aliases for PCOLCE Gene

Aliases for PCOLCE Gene

  • Procollagen C-Endopeptidase Enhancer 2 3 5
  • Procollagen C-Proteinase Enhancer 1 2 3 4
  • Procollagen, Type 1, COOH-Terminal Proteinase Enhancer 2 3
  • 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 C-Endopeptidase Enhancer 1 3
  • 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 Oculopharyngeal Muscular Dystrophy and Bone Fracture. Among its related pathways are Collagen biosynthesis and modifying enzymes and Degradation of the extracellular matrix. GO annotations related to this gene include heparin binding and peptidase activator activity. An important paralog of this gene is PCOLCE2.

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

Enhancers for PCOLCE Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH07F100672 1.2 ENCODE 55.9 +74.8 74816 8.6 MLX CREB3L1 ZFP64 FEZF1 DMAP1 YY1 ZNF143 ZNF548 ZNF263 SP3 PCOLCE GIGYF1 PPP1R35 STAG3L5P ZAN EPHB4 AP4M1 MOSPD3 MIR6875 GNB2
GH07F100427 1.2 ENCODE 33.3 -169.0 -168978 10.8 CREB3L1 ZFP64 FEZF1 DMAP1 YY1 SLC30A9 ZNF143 ZNF548 ZNF263 SP3 ZSCAN25 PILRA ZNF655 PCOLCE STAG3L5P GIGYF1 AP4M1 PPP1R35 EPHB4 MBLAC1
GH07F100475 1.1 ENCODE 30.9 -124.4 -124423 4.4 HDGF PKNOX1 ARNT WRNIP1 ZFP64 ARID4B SIN3A FEZF1 ZNF2 ZNF143 ZSCAN25 PILRA GIGYF1 ZNF655 STAG3L5P AP4M1 PPP1R35 PCOLCE EPHB4 ENSG00000242798
GH07F100085 1.4 FANTOM5 ENCODE 23.2 -513.3 -513315 6.6 HDGF PKNOX1 ARNT CREB3L1 ZFP64 ARID4B SIN3A YBX1 DMAP1 YY1 ZSCAN25 AP4M1 ZNF655 MBLAC1 STAG3L5P LOC100131859 GIGYF1 PCOLCE PDAP1 SMURF1
GH07F101110 1.2 Ensembl ENCODE 26.1 +511.1 511133 4.9 ZNF493 ZFP64 ZNF121 ZNF354C ZNF138 ZNF366 SCRT2 KLF7 FOS ZNF202 GIGYF1 STAG3L5P ENSG00000242798 PPP1R35 PCOLCE-AS1 PCOLCE ACTL6B MEPCE VGF NAT16
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around PCOLCE on UCSC Golden Path with GeneCards custom track

Promoters for PCOLCE Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000631190 1923 3801 HDGF PKNOX1 ARNT CREB3L1 ARID4B SIN3A ZNF2 ZNF207 KLF13 ZNF263

Genomic Location for PCOLCE Gene

Chromosome:
7
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

Genes around PCOLCE on UCSC Golden Path with GeneCards custom track

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

Post-translational modifications for PCOLCE Gene

Other Protein References for PCOLCE Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

No data available for DME Specific Peptides for PCOLCE Gene

Domains & Families 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 :
  • Contains 2 CUB domains.
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
genes like me logo Genes that share phenotypes with PCOLCE: view

Animal Models for PCOLCE Gene

MGI Knock Outs for PCOLCE:

Animal Model Products

  • Taconic Biosciences Mouse Models for PCOLCE

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , miRNA , Transcription Factor Targets and HOMER Transcription for PCOLCE Gene

Localization for PCOLCE Gene

Subcellular locations from UniProtKB/Swiss-Prot for PCOLCE Gene

Secreted.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PCOLCE gene
Compartment Confidence
extracellular 5
nucleus 4
plasma membrane 3
cytosol 2

Gene Ontology (GO) - Cellular Components for PCOLCE Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
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 & Interactions 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 organism development TAS 7523404
GO:0010952 positive regulation of peptidase activity IEA --
genes like me logo Genes that share ontologies with PCOLCE: view

No data available for SIGNOR curated interactions for PCOLCE Gene

Drugs & Compounds for PCOLCE Gene

(1) Drugs for PCOLCE Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(1) Additional Compounds for PCOLCE Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
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:

Inhibitory RNA Products

Clone 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 from GTEx, Illumina, BioGPS, and SAGE for PCOLCE Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for PCOLCE Gene

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

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for PCOLCE Gene



Protein tissue co-expression partners for PCOLCE Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of PCOLCE Gene:

PCOLCE

SOURCE GeneReport for Unigene cluster for PCOLCE Gene:

Hs.202097
genes like me logo Genes that share expression patterns with PCOLCE: view

Primer 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
chimpanzee
(Pan troglodytes)
Mammalia PCOLCE 34 35
  • 99.55 (n)
dog
(Canis familiaris)
Mammalia PCOLCE 34 35
  • 87.65 (n)
cow
(Bos Taurus)
Mammalia PCOLCE 34 35
  • 86.82 (n)
mouse
(Mus musculus)
Mammalia Pcolce 34 16 35
  • 83.78 (n)
rat
(Rattus norvegicus)
Mammalia Pcolce 34
  • 83.33 (n)
oppossum
(Monodelphis domestica)
Mammalia PCOLCE 35
  • 68 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 22 (a)
ManyToMany
lizard
(Anolis carolinensis)
Reptilia -- 35
  • 6 (a)
ManyToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia pcolce 34
  • 58.81 (n)
zebrafish
(Danio rerio)
Actinopterygii si:ch211-237l4.5 34
  • 55.42 (n)
PCOLCE (2 of 2) 35
  • 43 (a)
OneToMany
PCOLCE (1 of 2) 35
  • 39 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta CG32702 35
  • 3 (a)
ManyToMany
CG42255 35
  • 3 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea ZC116.3 35
  • 2 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 33 (a)
OneToMany
Species where no ortholog for PCOLCE was found in the sources mined by GeneCards:
  • 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

(6) 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
rs1053491 -- 100,608,145(+) TCTTT(C/T)TTATC utr-variant-3-prime
rs111591646 -- 100,606,022(+) CGAAG(C/T)TGGGA intron-variant, upstream-variant-2KB
rs111834249 -- 100,606,763(+) AGCCT(A/G)GGAGT intron-variant
rs112011139 -- 100,604,515(+) ACTGC(C/T)GGCCC intron-variant, upstream-variant-2KB
rs112048566 -- 100,606,985(+) ACTCG(G/T)GAGGC intron-variant

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

Variant ID Type Subtype PubMed ID
esv2659884 CNV deletion 23128226
esv2734888 CNV deletion 23290073
nsv951386 CNV deletion 24416366
nsv831072 CNV loss 17160897
nsv5868 CNV deletion 18451855

Variation tolerance for PCOLCE Gene

Residual Variation Intolerance Score: 72.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.30; 62.83% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PCOLCE Gene

Human Gene Mutation Database (HGMD)
PCOLCE
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PCOLCE

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

Disorders for PCOLCE Gene

MalaCards: The human disease database

(3) MalaCards diseases for PCOLCE Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
oculopharyngeal muscular dystrophy
  • muscular dystrophy, oculopharyngeal
bone fracture
myopathy of extraocular muscle
  • myopathy of extraocular muscles
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for PCOLCE

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PCOLCE
genes like me logo Genes that share disorders with PCOLCE: view

No data available for UniProtKB/Swiss-Prot and Genatlas for PCOLCE Gene

Publications for PCOLCE Gene

  1. 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 22 64
  2. 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 22 64
  3. 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 64
  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 22 64
  5. 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 22 64

Products for PCOLCE Gene

Sources for PCOLCE Gene

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