PCOLCE procollagen C-endopeptidase enhancer [Homo sapiens (human)] - Gene

Summary

Official Symbol: PCOLCEprovided by HGNC
Official Full Name: procollagen C-endopeptidase enhancerprovided by HGNC
Primary source: HGNC:HGNC:8738
See related: Ensembl:ENSG00000106333 MIM:600270; AllianceGenome:HGNC:8738
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: PCPE; PCPE1; PCPE-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 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]
Expression: Ubiquitous expression in gall bladder (RPKM 64.6), endometrium (RPKM 44.2) and 21 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 7q22.1

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	7	NC_000007.14 (100602363..100608175)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	7	NC_060931.1 (101842444..101848256)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	7	NC_000007.13 (100199986..100205798)

Chromosome 7 - NC_000007.14 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

SOX9 Promotes Collagen VI Secretion by Upregulating PCOLCE in Neurofibroma.
Title: SOX9 Promotes Collagen VI Secretion by Upregulating PCOLCE in Neurofibroma.
High expression of PCOLCE gene indicate poor prognosis in patients and are associated with immune infiltration in glioma.
Title: High expression of PCOLCE gene indicate poor prognosis in patients and are associated with immune infiltration in glioma.
A pan-cancer analysis of the oncogenic role of procollagen C-endopeptidase enhancer (PCOLCE) in human.
Title: A pan-cancer analysis of the oncogenic role of procollagen C-endopeptidase enhancer (PCOLCE) in human.
Expression of procollagen C-proteinase enhancer 1 in human trabecular meshwork tissues and cells.
Title: Expression of procollagen C-proteinase enhancer 1 in human trabecular meshwork tissues and cells.
Procollagen C-proteinase enhancer-1 and renal failure in multiple myeloma.
Title: Procollagen C-proteinase enhancer-1 and renal failure in multiple myeloma.
Procollagen C-Proteinase Enhancer-1 (PCPE-1) deficiency in mice reduces liver fibrosis but not NASH progression.
Title: Procollagen C-Proteinase Enhancer-1 (PCPE-1) deficiency in mice reduces liver fibrosis but not NASH progression.
Up-regulation of PCOLCE by TWIST1 promotes metastasis in Osteosarcoma.
Title: Up-regulation of PCOLCE by TWIST1 promotes metastasis in Osteosarcoma.
PCPE-1 levels are elevated in chronic kidney disease patients and that this elevation associated with declining glomerular filtration rate.
Title: Elevated serum levels of procollagen C-proteinase enhancer-1 in patients with chronic kidney disease is associated with a declining glomerular filtration rate.
Study shows that the two CUB domains bind to two different chains of C-propeptide trimer of procollagen III (CPIII) and that the N-terminal region of one CPIII chain, close to the proteolytic cleavage site, lies in the cleft between CUB1 and CUB2. This suggests that enhancing activity involves unraveling of this chain from the rest of the trimer, thus facilitating the action of the proteinase involved.
Title: Structural Basis for the Acceleration of Procollagen Processing by Procollagen C-Proteinase Enhancer-1.
Serum PCPE-1 might be used as a noninvasive marker of liver fibrosis in chronic hepatitis B.
Title: Evaluation of serum procollagen C-proteinase enhancer 1 level as a fibrosis marker in patients with chronic hepatitis B.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

PCOLCE (e-PCR)
- UniSTS:62796

D7S2120E (e-PCR)
- UniSTS:151127

RH79682 (e-PCR)
- UniSTS:84860

RH98230 (e-PCR)
- UniSTS:84398

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables collagen binding	IBA Inferred from Biological aspect of Ancestor more info
enables collagen binding	IDA Inferred from Direct Assay more info	PubMed
enables extracellular matrix structural constituent	RCA inferred from Reviewed Computational Analysis more info	PubMed
enables heparin binding	IDA Inferred from Direct Assay more info	PubMed
enables peptidase activator activity	IBA Inferred from Biological aspect of Ancestor more info
enables peptidase activator activity	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in collagen biosynthetic process	TAS Traceable Author Statement more info	PubMed
involved_in proteolysis	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
colocalizes_with collagen-containing extracellular matrix	HDA more info	PubMed
located_in extracellular exosome	HDA more info	PubMed
located_in extracellular region	HDA more info	PubMed
located_in extracellular space	HDA more info	PubMed

General protein information

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Preferred Names: procollagen C-endopeptidase enhancer 1

Names: procollagen C-proteinase enhancer 1; procollagen COOH-terminal proteinase enhancer 1; procollagen, type 1, COOH-terminal proteinase enhancer; type 1 procollagen C-proteinase enhancer protein; type I procollagen COOH-terminal proteinase enhancer

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_002593.4 → NP_002584.2 procollagen C-endopeptidase enhancer 1 precursor

See identical proteins and their annotated locations for NP_002584.2

Status: REVIEWED

Source sequence(s)

BC000574, BC033205, BI837971

Consensus CDS

CCDS5700.1

UniProtKB/Swiss-Prot

B2R9E1, O14550, Q15113

UniProtKB/TrEMBL

A4D2D2

Related

ENSP00000223061.5, ENST00000223061.6

Conserved Domains (2) summary

cd00041
Location:37 → 147

CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.

cd03576
Location:313 → 437

NTR_PCOLCE; NTR domain, PCOLCE subfamily; Procollagen C-endopeptidase enhancers (PCOLCEs) are extracellular matrix proteins that enhance the activity of procollagen C-proteases, by binding to the procollagen I C-peptide. They contain a C-terminal NTR domain, which ...