PCSK5 - proprotein convertase subtilisin/kexin type 5 Gene

中文名称：前蛋白转化酶枯草杆菌蛋白酶/kexin 5 型

种属: Homo sapiens

同用名: PC5; PC6; PC6A; SPC6

基因 ID: 5125 | 基因类型: protein coding

关于 PCSK5

Cytogenetic location: 9q21.13 Genomic coordinates (GRCh38): 9:75,889,809-76,362,975 (from NCBI)

This gene has 7 transcripts (splice variants), 271 orthologues and 9 paralogues. Broad expression in small intestine (RPKM 6.4), duodenum (RPKM 5.8) and 20 other tissues.

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离开 ER 的异二聚体。然后它分类到跨高尔基体网络，在那里发生第二个自催化事件并获得催化活性。这种编码的蛋白质被广泛表达，并且是七种碱性氨基酸特异性成员之一，它们在单个或成对的碱性残基处切割其底物。它介导多个整合素 α 亚基的翻译后内切蛋白水解加工，并被认为可以加工肾素原、前膜 1 型基质金属蛋白酶和 HIV-1 糖蛋白 gp160。可变剪接导致多个转录变体，其中一些变体编码不同的亚型，包括包装成致密核心颗粒 (PC5A) 的蛋白酶和 1 型膜结合蛋白酶 (PC5B) 。[RefSeq 提供，2014 年 5 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. It then sorts to the trans-Golgi network where a second autocatalytic event takes place and the catalytic activity is acquired. This encoded protein is widely expressed and one of the seven basic amino acid-specific members which cleave their substrates at single or paired basic residues. It mediates posttranslational endoproteolytic processing for several Integrin alpha subunits and is thought to process prorenin, pro-membrane type-1 matrix metalloproteinase and HIV-1 glycoprotein gp160. Alternative splicing results in multiple transcript variants, some of which encode distinct isoforms, including a protease packaged into dense core granules (PC5A) and a type 1 membrane bound protease (PC5B). [provided by RefSeq, May 2014]

PCSK5 基因产物(3)

mRNA	Protein	Name
NM_001190482.2	NP_001177411.1	proprotein convertase subtilisin/kexin type 5 isoform PC6B preproprotein
NM_001372043.1	NP_001358972.1	proprotein convertase subtilisin/kexin type 5 isoform 3 precursor
NM_006200.6	NP_006191.2	proprotein convertase subtilisin/kexin type 5 isoform PC6A preproprotein

基因本体论

分子功能
生物过程

分子功能 GO 注释	逻辑证据	参考文献	来源
enables endopeptidase activity	EXP EXP: 通过实验结果推断	16109723	GOA
enables peptidase activity	IDA IDA: 通过直接分析推断	15606899	GOA
enables protein binding	IPI IPI: 通过物理相互作用推断	25416956	GOA
enables serine-type endopeptidase activity	IDA IDA: 通过直接分析推断	8901832	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in anterior/posterior pattern specification	IMP IMP: 通过突变表型推断	18519639	GOA
involved in embryonic digestive tract development	IMP IMP: 通过突变表型推断	18519639	GOA
involved in embryonic skeletal system development	IMP IMP: 通过突变表型推断	18519639	GOA
involved in kidney development	IMP IMP: 通过突变表型推断	18519639	GOA
involved in peptide biosynthetic process	IDA IDA: 通过直接分析推断	8901832	GOA
involved in peptide hormone processing	IDA IDA: 通过直接分析推断	8901832	GOA
acts upstream of or within protein processing	IDA IDA: 通过直接分析推断	15606899	GOA
involved in protein processing	IDA IDA: 通过直接分析推断	8901832	GOA
involved in renin secretion into blood stream	IEP IEP: 通过表达模式推断	8901832	GOA
involved in signal peptide processing	IDA IDA: 通过直接分析推断	16912035	GOA
involved in viral life cycle	IEP IEP: 通过表达模式推断	8940009	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

PCSK5 蛋白结构

Peptidase_S8

P_proprotein

GF_recep_IV

0
300
600
900
1200
1500
1860 a.a.

蛋白主名

其他名称

proprotein convertase subtilisin/kexin type 5

prohormone convertase 5

PCSK5 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
种属内	PCSK5	Q92824	KRTAP10-8	Homo sapiens	P60410	Y2H Prey Pooling	25416956
种属内	PCSK5	Q92824	KRTAP10-7	Homo sapiens	P60409	Y2H Prey Pooling	25416956
种属内	PCSK5	Q92824	KRTAP10-7	Homo sapiens	P60409	Validated Y2H	25416956
种属内	PCSK5	Q92824	LCE3C	Homo sapiens	Q5T5A8	Y2H Prey Pooling	25416956
种属内	PCSK5	Q92824	LCE3C	Homo sapiens	Q5T5A8	Validated Y2H	25416956
种属内	PCSK5	Q92824	LCE3C	Homo sapiens	Q5T5A8	Y2H Array	25416956
种属内	PCSK5	Q92824	NUFIP2	Homo sapiens	Q7Z417	Y2H Prey Pooling	25416956
种属内	PCSK5	Q92824	GLRX3	Homo sapiens	O76003	Y2H Prey Pooling	25416956
种属内	PCSK5	Q92824	GLRX3	Homo sapiens	O76003	Y2H Array	25416956
种属内	PCSK5	Q92824	KRTAP4-12	Homo sapiens	Q9BQ66	Y2H Array	25416956
种属内	PCSK5	Q92824	MEOX2	Homo sapiens	P50222	Validated Y2H	25416956
种属内	PCSK5	Q92824	MEOX2	Homo sapiens	P50222	Y2H Prey Pooling	25416956
种属内	PCSK5	Q92824	STK16	Homo sapiens	O75716	Validated Y2H	25416956
种属内	PCSK5	Q92824	STK16	Homo sapiens	O75716	Y2H Array	25416956
种属内	PCSK5	Q92824	NOTCH2NLA	Homo sapiens	Q7Z3S9	Y2H Prey Pooling	25416956
种属内	PCSK5	Q92824	NOTCH2NLA	Homo sapiens	Q7Z3S9	Y2H Array	25416956

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

Motion Sickness

Airsickness	Carsickness
Seasickness	Travel Sickness
Riders' Vertigo

Currarino Syndrome

Currarino Triad	Partial Sacral Agenesis With Intact First Sacral Vertebra, Presacral Mass And Anorectal Malformation
CURRAS

Cataract 38

CTRCT38	Catc5
Autosomal Recessive Congenital Cataract 5	Cataract, Autosomal Recessive Congenital 5
Cataract 38, Autosomal Recessive	Cataract, Type 38

Epilepsy, Idiopathic Generalized 2

EIG2	Epilepsy, Idiopathic Generalized, Susceptibility To, 2
Idiopathic Generalized Epilepsy 2	Epilepsy, Idiopathic Generalized Locus On Chromosome 14
Epilepsy, Idiopathic Generalized, Susceptibility To, Locus On Chromosome 14

Sacral Defect With Anterior Meningocele

Caudal Regression Syndrome	Caudal Regression Sequence
Sacral Agenesis	Caudal Dysgenesis Syndrome
SDAM	Caudal Dysplasia Sequence
Caudal Dysplasia	Sacral Agenesis Syndrome
Sacral Regression Syndrome	Sacral Defect And Anterior Sacral Meningocele
Rudd Klimek Syndrome	Sirenomelia

Vacterl Association

Vater Association

Vater Syndrome

Somatization Disorder

Somatoform Disorders	Briquet'S Disorder
Polysomatising Disorder	Somatisation Disorder
Somatoform Disorder

Neurotic Disorder

Neurosis	Reactive Depression
Adjustment Disorders	Neurotic Disorders
Depressive Neurosis	Neurotic Depression
Neurotic Depression Reactive Type	Neurotic Depressive State
Psychoneurosis	Depressive Disorder
Depression, Neurotic

Pachyonychia Congenita 1

Pachyonychia Congenita	Jadassohn-Lewandowsky Syndrome
Pachyonychia Congenita Syndrome	PC1
Pachyonychia Congenita, Jadassohn-Lewandowsky Type	Congenital Pachyonychia
Pachyonychia Congenita, Type 1	Pachyonychia Congenita, Jadassohn-Lewandowsky Type, Formerly
Jadassohn-Lewandowsky Syndrome, Formerly	Jackson-Lawler Type Pachyonychia Congenita
Pachyonychia Congenita Type 1	Jackson-Lawler Syndrome
Jadassohn-Lewandowski Syndrome	Pc
Pachyonychia Congenita Jackson-Lawler Type	Pachyonychia Congenita Jadassohn-Lewandowsky Type
Pachyonychia Congenita Jackson Lawler Type	Pc-1
Pachyonychia Congenita, Jadassohn Lewandowsky Type	Pachyonychia Congenita, 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

Cat. No.	产品名	作用方式	纯度	是否罕见病
HY-RS10174	PCSK5 Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 ID
Felis catus	PCSK5	VGNC	VGNC:102961
Canis familiaris	PCSK5	VGNC	VGNC:44324
Rattus norvegicus	PCSK5	RGD	RGD:620326
Macaca mulatta	PCSK5	VGNC	VGNC:75787
Bos taurus	PCSK5	VGNC	VGNC:56979
Mus musculus	PCSK5	MGD	MGI:97515

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