1. Gene
  2. PCOLCE - procollagen C-endopeptidase enhancer Gene

PCOLCE - procollagen C-endopeptidase enhancer Gene

Homo sapiens

Also known as PCPE; PCPE1; PCPE-1

Gene ID: 5118 | Gene type: protein coding

About PCOLCE

Cytogenetic location: 7q22.1 Genomic coordinates (GRCh38): 7:100,602,363-100,608,175 (from NCBI)

This gene has 10 transcripts (splice variants), 246 orthologues and 35 paralogues. Ubiquitous expression in gall bladder (RPKM 64.6), endometrium (RPKM 44.2) and 21 other tissues.

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]

PCOLCE Products(1)

mRNA Protein Name
NM_002593.4 NP_002584.2 procollagen C-endopeptidase enhancer 1 precursor

PCOLCE Protein Structure

CUB

CUB: CUB domain (37 - 146)

CUB

CUB: CUB domain (159 - 270)

NTR

NTR: UNC-6/NTR/C345C module (331 - 433)

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  • 449 a.a.
Protein Preferred Names Protein Names

procollagen C-endopeptidase enhancer 1

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

Related Diseases

Diseases Alias
Osteogenesis Imperfecta, Type Iii

Osteogenesis Imperfecta Type Iii

OI3

Oi, Type Iii

Osteogenesis Imperfecta Type 3

Oi Type 3

Oi Type Iii

Progressive Deforming Osteogenesis Imperfecta

Severe Osteogenesis Imperfecta

Osteogenesis Imperfecta, Progressively Deforming, With Normal Sclerae

Progressively Deforming Osteogenesis Imperfecta With Normal Sclera

Osteogenesis Imperfecta, Progressively Deforming With Normal Sclerae

Progressively Deforming Oi

Osteogenesis Imperfecta 3

Oi-Iii

Progressively Deforming Osteogenesis Imperfecta With Normal Sclerae

Alacrima, Achalasia, And Mental Retardation Syndrome

AAMR

Alacrima, Achalasia, And Intellectual Disability Syndrome

Alacrima, Achalasia, And Impaired Intellectual Development Syndrome

Intellectual Disability

Stickler Syndrome, Type I

Stickler Syndrome 1

Stickler Syndrome Type 1

STL1

Aom

Stickler Syndrome, Type 1

Stickler Syndrome, Vitreous Type 1

Stickler Syndrome, Membranous Vitreous Type

Arthroophthalmopathy, Hereditary Progressive

Arthro-Ophthalmopathy Hereditary Progressive

Stickler Syndrome Membranous Vitreous Type

Stickler Syndrome Type I

Stickler Syndrome Vitreous Type 1

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Canis familiaris PCOLCE VGNC VGNC:44316
Rattus norvegicus PCOLCE RGD RGD:3270
Felis catus PCOLCE VGNC VGNC:68729
Macaca mulatta PCOLCE VGNC VGNC:75782
Mus musculus PCOLCE MGD MGI:105099
Bos taurus PCOLCE VGNC VGNC:32642