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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. 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

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
GH07H100672 1.4 ENCODE dbSUPER 64.3 +74.8 74816 8 MLX ZFP64 FEZF1 DMAP1 YY1 ZNF143 ZNF548 SP3 ZC3H11A MEF2D TRIM4 ZNF3 GIGYF1 SRRT PCOLCE STAG3L5P PPP1R35 ENSG00000242798 AP4M1 ZAN
GH07H100475 1.4 ENCODE dbSUPER 40.3 -124.4 -124423 4 HDGF PKNOX1 FOXA2 ARNT ZFP64 ARID4B SIN3A FEZF1 ZNF2 ZBTB7B ZSCAN25 TRIM4 GIGYF1 ZNF3 ZNF655 SRRT AP4M1 ENSG00000242798 STAG3L5P PILRA
GH07H100886 1.4 ENCODE dbSUPER 29.5 +287.2 287152 5 HDGF PKNOX1 ARNT ARID4B SIN3A DMAP1 ZNF2 ZBTB7B ZNF766 ZNF143 TRIM4 GIGYF1 SRRT ZNF3 PPP1R35 PCOLCE AP4M1 ENSG00000242798 STAG3L5P ACHE
GH07H099996 1.8 VISTA Ensembl ENCODE dbSUPER 22.1 -604.5 -604470 2 HDGF PKNOX1 FOXA2 MLX ARID4B DMAP1 YBX1 YY1 ETS1 SLC30A9 TRIM4 ZSCAN25 ZNF3 ZNF394 ZNF655 PCOLCE PTCD1 LOC100419643 SMURF1 SRRT
GH07H100799 1.6 Ensembl ENCODE dbSUPER 22.8 +202.3 202268 10 HNRNPUL1 HDGF PKNOX1 FOXA2 ARNT ARID4B SIN3A YBX1 DMAP1 ZBTB7B GIGYF1 TRIM4 ZNF3 SRRT STAG3L5P PPP1R35 MOSPD3 PCOLCE ENSG00000242798 EPHB4
- 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
ENSR00000327496 723 601 KLF1 ARID4B ZNF76 KLF17 ETS1 GLIS2 CTBP1 ZNF366 POLR2A PATZ1

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

  • C-terminally processed at multiple positions.
  • Glycosylation at posLast=2929 and posLast=431431
  • Modification sites at PhosphoSitePlus

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

Gene Families for PCOLCE Gene

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

Protein Domains for PCOLCE Gene

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 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

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for PCOLCE
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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 IEA --
GO:0005615 extracellular space IEA,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 --
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:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for PCOLCE
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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

Primer Products

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 CG42255 34
  • 3 (a)
ManyToMany
CG32702 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 Sequence Context AA Info Type
rs1000708457 -- 100,604,738(+) ACACC(C/G)TCTCC intron-variant, upstream-variant-2KB
rs1000761053 -- 100,605,061(+) CGCCC(C/T)CCACC intron-variant, upstream-variant-2KB
rs1001110009 -- 100,604,647(+) CACCC(C/T)CTCCT intron-variant, upstream-variant-2KB
rs1001561291 -- 100,604,926(+) CCGGC(C/T)GCTCT intron-variant, upstream-variant-2KB
rs1001704068 -- 100,606,259(+) AGAAG(A/G)TCAAG 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)

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: HGMD, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
oculopharyngeal muscular dystrophy
  • muscular dystrophy, oculopharyngeal
myopathy of extraocular muscle
  • myopathy of extraocular muscles
bone fracture
- 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 JD … Banda MJ (The Journal of biological chemistry 2000) 3 4 22 60
  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 60
  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 60
  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 60
  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 60

Products for PCOLCE Gene

Sources for PCOLCE Gene

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