PCOLCE (procollagen C-endopeptidase enhancer)

Gene

• Entrez ID: 5118
• Gene name: Procollagen C-endopeptidase enhancer
• Gene symbol: PCOLCE
• Synonyms (NCBI Gene): PCPE, PCPE-1, PCPE1
• 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)

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
GO:0005576	Component	Extracellular region	HDA	27068509
GO:0005576	Component	Extracellular region	IEA
GO:0005615	Component	Extracellular space	HDA	20551380
GO:0006508	Process	Proteolysis	IBA
GO:0008201	Function	Heparin binding	IDA	12393877
GO:0016504	Function	Peptidase activator activity	IBA
GO:0016504	Function	Peptidase activator activity	IDA	12393877
GO:0016504	Function	Peptidase activator activity	IEA
GO:0031012	Component	Extracellular matrix	HDA	20551380
GO:0032964	Process	Collagen biosynthetic process	TAS	7523404
GO:0070062	Component	Extracellular exosome	HDA	21362503, 23533145

Other IDs

• MIM: 600270
• HGNC: 8738
• e!Ensembl: ENSG00000106333

Protein

• UniProt ID: 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:

  MLPAATASLLGPLLTACALLPFAQGQTPNYTRPVFLCGGDVKGESGYVASEGFPNLYPPN
  KECIWTITVPEGQTVSLSFRVFDLELHPACRYDALEVFAGSGTSGQRLGRFCGTFRPAPL
  VAPGNQVTLRMTTDEGTGGRGFLLWYSGRATSGTEHQFCGGRLEKAQGTLTTPNWPESDY
  PPGISCSWHIIAPPDQVIALTFEKFDLEPDTYCRYDSVSVFNGAVSDDSRRLGKFCGDAV
  PGSISSEGNELLVQFVSDLSVTADGFSASYKTLPRGTAKEGQGPGPKRGTEPKVKLPPKS
  QPPEKTEESPSAPDAPTCPKQCRRTGTLQSNFCASSLVVTATVKSMVREPGEGLAVTVSL
  IGAYKTGGLDLPSPPTGASLKFYVPCKQCPPMKKGVSYLLMGQVEENRGPVLPPESFVVL
  HRPNQDQILTNLSKRKCPSQPVRAAASQD

• Sequence length: 449

Pathways

Reactome:

Collagen biosynthesis and modifying enzymes
Crosslinking of collagen fibrils

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Familial cancer of breast	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER CIRRHOSIS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PCOLCE-related disorder	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Arteriosclerosis	Arteriosclerosis	BEFREE	25947382		★☆☆☆☆ Found in Text Mining only
Arthropathy	Arthropathy	BEFREE	30779748		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	25947382		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	32420379	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	35036081	Associate	★☆☆☆☆ Found in Text Mining only
Chronic Kidney Diseases	Kidney Disease	BEFREE	30393914		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	28957322		★☆☆☆☆ Found in Text Mining only
Fibrosis, Liver	Liver Fibrosis	CTD_human_DG	26396155		★☆☆☆☆ Found in Text Mining only
Fibrosis, Liver	Liver Fibrosis	BEFREE	29683980, 30840244		★☆☆☆☆ Found in Text Mining only
Gastritis Atrophic	Gastritis	Pubtator	37868053	Associate	★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	35609253, 36882457	Associate	★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	39196693	Stimulate	★☆☆☆☆ Found in Text Mining only
Keratoconus	Keratoconus	Pubtator	30029277	Associate	★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver Cirrhosis	CTD_human_DG	26396155		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	36596064	Associate	★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	37868053	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Fibroids	Uterine Fibroids	BEFREE	12393284		★☆☆☆☆ Found in Text Mining only