PCOLCE (procollagen C-endopeptidase enhancer)

Gene Gene information from NCBI Gene database.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 5118
Gene name Procollagen C-endopeptidase enhancer
Gene symbol PCOLCE
Synonyms (NCBI Gene)
PCPEPCPE-1PCPE1
Chromosome 7
Chromosome location 7q22.1
Summary 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 procoll
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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Gene Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (16)
GO ID Ontology Definition Evidence Reference
GO:0005201 Function Extracellular matrix structural constituent RCA 20551380
GO:0005515 Function Protein binding IPI 20207734, 20979576, 24117177, 25286301, 28106549
GO:0005518 Function Collagen binding IBA
GO:0005518 Function Collagen binding IDA 12393877
GO:0005518 Function Collagen binding IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
600270 8738 ENSG00000106333
Protein Protein information from UniProt database.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q15113
Protein name Procollagen C-endopeptidase enhancer 1 (Procollagen COOH-terminal proteinase enhancer 1) (PCPE-1) (Procollagen C-proteinase enhancer 1) (Type 1 procollagen C-proteinase enhancer protein) (Type I procollagen COOH-terminal proteinase enhancer)
Protein function 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.
PDB 1UAP , 6FZV , 6FZW , 9EN2
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00431 CUB 37 → 146 CUB domain Domain
PF00431 CUB 159 → 270 CUB domain Domain
PF01759 NTR 330 → 434 UNC-6/NTR/C345C module Domain
Sequence
Sequence length 449
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
  Reactome
    Collagen biosynthesis and modifying enzymes
Crosslinking of collagen fibrils
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
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Gene Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Unknown Diseases (4)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Familial cancer of breast Benign rs146209978 RCV005939017
Gastric cancer Benign rs146209978 RCV005939018
Ovarian serous cystadenocarcinoma Benign rs146209978 RCV005939019
PCOLCE-related disorder Likely benign; Benign rs750369223, rs374118608, rs146209978, rs117595600 RCV003912188
RCV003909831
RCV003924585
RCV003932046
Show/Hide Text Mining Associations (17)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma Associate 38250763
Breast Neoplasms Associate 32420379
Carcinoma Renal Cell Associate 35036081
Fibrocartilaginous embolism Associate 32973250
Gastritis Atrophic Associate 37868053
Glioma Associate 35609253, 36882457
Hypertension Stimulate 39196693
Inflammation Associate 29369166
Keratoconus Associate 30029277
Neoplasm Metastasis Associate 35609253, 36882457