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

PCOLCE - procollagen C-endopeptidase enhancer Gene

中文名称:前胶原 C-内肽酶增强因子

种属: Homo sapiens

同用名: PCPE; PCPE1; PCPE-1

基因 ID: 5118 | 基因类型: protein coding

关于 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.

功能概要

I-III 型纤维胶原蛋白作为前体分子合成,称为前胶原。这些前体包含氨基和羧基末端的肽延伸,分别称为 N- 和 C- 前肽,它们在细胞分泌前胶原时被切割,产生成熟的三螺旋、高度结构化的原纤维。该基因编码一种糖蛋白,该糖蛋白结合并驱动 I 型原胶原的酶促裂解并提高 C 蛋白酶活性。[RefSeq 提供,2008 年 7 月]

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 基因产物(1)

mRNA Protein Name
NM_002593.4 NP_002584.2 procollagen C-endopeptidase enhancer 1 precursor
基因本体论
  • 分子功能
分子功能 GO 注释 逻辑证据 参考文献 来源
enables collagen binding IDA
IDA: 通过直接分析推断
12393877 GOA
enables heparin binding IDA
IDA: 通过直接分析推断
12393877 GOA
enables peptidase activator activity IDA
IDA: 通过直接分析推断
12393877 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
20207734 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断

PCOLCE 蛋白结构

CUB

CUB: CUB domain (37 - 146)

CUB

CUB: CUB domain (159 - 270)

NTR

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

  • 0
  • 100
  • 200
  • 300
  • 400
  • 449 a.a.
蛋白主名 其他名称

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

PCOLCE 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
种属间
PCOLCE Q15113 Sdc2 Mus musculus P43407 25286301
种属间
PCOLCE Q15113 Sdc2 Mus musculus P43407 25286301
种属内
PCOLCE Q15113 THBS1 Homo sapiens P07996 24117177
种属内
PCOLCE Q15113 P39060-PRO_0000005794 Homo sapiens P39060-PRO_0000005794 24117177
种属内
PCOLCE Q15113 P39060-PRO_0000005794 Homo sapiens P39060-PRO_0000005794 24117177
种属内
PCOLCE Q15113 BMP1 Homo sapiens P13497
SPR
20207734
种属内
PCOLCE Q15113 P05067-PRO_0000000092 Homo sapiens P05067-PRO_0000000092 24117177
种属间
PCOLCE Q15113 Sdc1 Mus musculus P18828 25286301
种属间
PCOLCE Q15113 Sdc4 Mus musculus O35988 25286301
种属间
PCOLCE Q15113 FN1 Bos taurus P07589 25286301
种属间
PCOLCE Q15113 FN1 Bos taurus P07589 25286301
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
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

疾病名称 别名
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

直系同源

种属 基因名 来源 基因 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