1. Gene
  2. PCSK4 - proprotein convertase subtilisin/kexin type 4 Gene

PCSK4 - proprotein convertase subtilisin/kexin type 4 Gene

中文名称:前蛋白转化酶枯草杆菌蛋白酶/kexin 4 型

种属: Homo sapiens

同用名: PC4; SPC5

基因 ID: 54760 | 基因类型: protein coding

关于 PCSK4

Cytogenetic location: 19p13.3 Genomic coordinates (GRCh38): 19:1,481,428-1,490,876 (from NCBI)

This gene has 13 transcripts (splice variants), 130 orthologues and 9 paralogues. Biased expression in testis (RPKM 19.7) and kidney (RPKM 0.9).

功能概要

该基因编码枯草杆菌蛋白酶样原蛋白转化酶家族的一个成员,其中包括通过分泌途径的受调节或组成性分支处理蛋白质和肽前体运输的蛋白酶。编码的蛋白质在 ER 中经历初始自催化处理事件以生成异二聚体,该异二聚体离开 ER 并分类到亚细胞区室,在那里甚至发生第二次自催化并获得催化活性。该基因编码七个碱性氨基酸特异性成员之一,这些成员在单个或成对的碱性残基处切割其底物。该蛋白酶仅在睾丸、胎盘和卵巢中表达。它在受精、胎儿胎盘生长和胚胎发育中起着关键作用,并处理多种激素原,包括促垂体腺苷酸环化酶激活蛋白和促胰岛素样生长因子 II。[RefSeq 提供,2014 年 1 月]

This gene encodes a member of the subtilisin-like proprotein convertase family, which includes proteases that process protein and peptide precursors trafficking through regulated or constitutive branches of the secretory pathway. The encoded protein undergoes an initial autocatalytic processing event in the ER to generate a heterodimer which exits the ER and sorts to subcellular compartments where a second autocatalytic even takes place and the catalytic activity is acquired. This gene encodes one of the seven basic amino acid-specific members which cleave their substrates at single or paired basic residues. The protease is expressed only in the testis, placenta, and ovary. It plays a critical role in fertilization, fetoplacental growth, and embryonic development and processes multiple prohormones including pro-pituitary adenylate cyclase-activating protein and pro-insulin-like growth factor II. [provided by RefSeq, Jan 2014]

PCSK4 基因产物(2)

mRNA Protein Name
NM_001395257.1 NP_001382186.1 proprotein convertase subtilisin/kexin type 4 isoform 2 precursor
NM_017573.5 NP_060043.2 proprotein convertase subtilisin/kexin type 4 isoform 1 preproprotein

PCSK4 蛋白结构

Peptidase_S8

Peptidase_S8: Subtilase family (153 - 439)

P_proprotein

P_proprotein: Proprotein convertase P-domain (489 - 574)

  • 0
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  • 600
  • 755 a.a.
蛋白主名 其他名称

proprotein convertase subtilisin/kexin type 4

testicular tissue protein Li 135

关联疾病

疾病名称 别名
Dilated Cardiomyopathy 1t

Cmd1t

Cardiomyopathy, Dilated, 1t

Hypobetalipoproteinemia, Familial, 2

Familial Hypobetalipoproteinemia 2

FHBL2

Hypolipidemia, Familial, Combined

Combined Familial Hypolipidemia

Combined Hypobetalipoproteinemia Familial

Hypobetalipoproteinemia, Familial, Type 2

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
Macaca mulatta PCSK4 VGNC VGNC:75786
Felis catus PCSK4 VGNC VGNC:102655
Mus musculus PCSK4 MGD MGI:97514
Canis familiaris PCSK4 VGNC VGNC:44323
Bos taurus PCSK4 VGNC VGNC:55297
Rattus norvegicus PCSK4 RGD RGD:620325