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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 Myopathy Of Extraocular Muscle. Among its related pathways are Collagen chain trimerization and Degradation of the extracellular matrix. Gene Ontology (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

Additional gene information for PCOLCE Gene

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

Genomics for PCOLCE Gene

GeneHancer (GH) Regulatory Elements for PCOLCE Gene

Promoters and enhancers for PCOLCE Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH07I100602 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 550.8 +1.8 1808 3.9 HDGF FOXA2 ARNT ARID4B SIN3A ZNF2 YY1 ZNF766 ZNF213 E2F8 PCOLCE-AS1 PCOLCE MOSPD3 PILRA
GH07I100672 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 64.3 +74.8 74815 8.6 CLOCK MLX ZFP64 FEZF1 DMAP1 YY1 ZNF213 E2F8 ZNF143 ZNF548 GNB2 GC07P100676 TRIM4 ZNF3 GIGYF1 SRRT PCOLCE STAG3L5P PPP1R35 ENSG00000242798
GH07I100475 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 40.3 -124.4 -124422 4.4 HDGF PKNOX1 FOXA2 SMAD1 ARNT ZFP64 ARID4B SIN3A FEZF1 ZNF2 TSC22D4 ZSCAN25 SRRT TRIM4 ZNF655 GIGYF1 ZNF3 ENSG00000242798 STAG3L5P PILRA
GH07I100873 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 27.7 +273.1 273129 2.9 CLOCK MLX DMAP1 YY1 E2F8 ZNF143 SP3 NFYC ZC3H11A MEF2D SRRT PIR40651 TRIM4 ZNF3 GIGYF1 PPP1R35 STAG3L5P PCOLCE PILRB ENSG00000242798
GH07I100427 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE dbSUPER 22 -169.0 -168978 10.8 CLOCK ZFP64 FEZF1 DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF143 PPP1R35 MEPCE PIR54054 ZCWPW1 ZSCAN25 TRIM4 SRRT GIGYF1 ZNF3 PILRA
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around PCOLCE on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the PCOLCE gene promoter:

Genomic Locations for PCOLCE Gene

Genomic Locations for PCOLCE Gene
chr7:100,602,177-100,608,175
(GRCh38/hg38)
Size:
5,999 bases
Orientation:
Plus strand
chr7:100,199,800-100,205,798
(GRCh37/hg19)

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

  • Abcam antibodies for PCOLCE

No data available for DME Specific Peptides for PCOLCE Gene

Domains & Families for PCOLCE Gene

Gene Families for PCOLCE Gene

Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted secreted proteins

Suggested Antigen Peptide Sequences for PCOLCE Gene

Graphical View of Domain Structure for InterPro Entry

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

No data available for UniProtKB/Swiss-Prot 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.

Phenotypes From GWAS Catalog for PCOLCE Gene

Gene Ontology (GO) - Molecular Function for PCOLCE Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 20979576
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

Clone 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

Subcellular locations from the

Human Protein Atlas (HPA)
  • Golgi apparatus (2)
  • Vesicles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for PCOLCE Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IDA 27068509
GO:0005615 extracellular space IEA,IDA 20551380
GO:0031012 colocalizes_with extracellular matrix IDA 20551380
GO:0070062 extracellular exosome HDA,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 --
GO:1990830 cellular response to leukemia inhibitory factor 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:

Clone 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 CGAP 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

Evidence on tissue expression from TISSUES for PCOLCE Gene

  • Nervous system(4.9)
  • Heart(4.6)
  • Lung(3.8)
  • Bone(2.9)
  • Eye(2.7)
  • Muscle(2.2)
genes like me logo Genes that share expression patterns with PCOLCE: view

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer 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 33 34
  • 99.55 (n)
dog
(Canis familiaris)
Mammalia PCOLCE 33 34
  • 87.65 (n)
cow
(Bos Taurus)
Mammalia PCOLCE 33 34
  • 86.82 (n)
mouse
(Mus musculus)
Mammalia Pcolce 33 16 34
  • 83.78 (n)
rat
(Rattus norvegicus)
Mammalia Pcolce 33
  • 83.33 (n)
oppossum
(Monodelphis domestica)
Mammalia PCOLCE 34
  • 68 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 22 (a)
ManyToMany
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 6 (a)
ManyToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia pcolce 33
  • 58.81 (n)
zebrafish
(Danio rerio)
Actinopterygii si:ch211-237l4.5 33
  • 55.42 (n)
PCOLCE (2 of 2) 34
  • 43 (a)
OneToMany
PCOLCE (1 of 2) 34
  • 39 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta CG32702 34
  • 3 (a)
ManyToMany
CG42255 34
  • 3 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea ZC116.3 34
  • 2 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 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 Variation AA Info Type
rs1000708457 -- 100,604,738(+) C/G intron_variant
rs1000761053 -- 100,605,061(+) C/T intron_variant
rs1001110009 -- 100,604,647(+) C/T intron_variant
rs1001561291 -- 100,604,926(+) C/T intron_variant
rs1001704068 -- 100,606,259(+) G/A 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
nsv5868 CNV deletion 18451855
nsv831072 CNV loss 17160897
nsv951386 CNV deletion 24416366

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)

Additional Variant Information 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: HGMD, DISEASES, and GeneCards

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

Additional Disease Information for 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 JD … Banda MJ (The Journal of biological chemistry 2000) 3 4 22 58
  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 IC … Greenspan DS (Genomics 1999) 3 4 22 58
  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) Glöckner G … Rosenthal A (Genome research 1998) 2 3 4 58
  4. Fine mapping of the human and mouse genes for the type I procollagen COOH-terminal proteinase enhancer protein. (PMID: 8824813) Takahara K … Greenspan DS (Genomics 1996) 2 3 22 58
  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 DS (The Journal of biological chemistry 1994) 3 4 22 58

Products for PCOLCE Gene

Sources for PCOLCE Gene

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