1. Gene
  2. PCSK1 - proprotein convertase subtilisin/kexin type 1 Gene

PCSK1 - proprotein convertase subtilisin/kexin type 1 Gene

中文名称:前蛋白转化酶枯草杆菌蛋白酶/kexin 1 型

种属: Homo sapiens

同用名: PC1; PC3; NEC1; SPC3; PC1/3; BMIQ12

基因 ID: 5122 | 基因类型: protein coding

关于 PCSK1

Cytogenetic location: 5q15 Genomic coordinates (GRCh38): 5:96,390,333-96,433,248 (from NCBI)

This gene has 4 transcripts (splice variants), 205 orthologues, 9 paralogues and is associated with 3 phenotypes. Biased expression in brain (RPKM 13.3), adrenal (RPKM 3.9) and 6 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。蛋白酶被包装到致密的核心分泌颗粒中并被激活,并在神经内分泌系统和大脑中表达。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。它在多肽激素和神经肽前体的蛋白水解激活中起作用。该基因的突变与肥胖和前蛋白转化酶 1/3 缺乏症的易感性有关。已观察到该基因编码多种亚型的选择性剪接转录变体[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. The Protease is packaged into and activated in dense core secretory granules and expressed in the neuroendocrine system and brain. This gene encodes one of the seven basic amino acid-specific members which cleave their substrates at single or paired basic residues. It functions in the proteolytic activation of polypeptide Hormones and Neuropeptides precursors. Mutations in this gene have been associated with susceptibility to obesity and proprotein convertase 1/3 deficiency. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene [provided by RefSeq, Jan 2014]

PCSK1 基因产物(2)

mRNA Protein Name
NM_000439.5 NP_000430.3 neuroendocrine convertase 1 isoform 1 preproprotein
NM_001177875.2 NP_001171346.1 neuroendocrine convertase 1 isoform 2

PCSK1 蛋白结构

Peptidase_S8

Peptidase_S8: Subtilase family (162 - 451)

P_proprotein

P_proprotein: Proprotein convertase P-domain (504 - 591)

Proho_convert

Proho_convert: Prohormone convertase enzyme (712 - 752)

  • 0
  • 200
  • 400
  • 600
  • 753 a.a.
蛋白主名 其他名称

neuroendocrine convertase 1

prohormone convertase 1

重组 PCSK1 蛋白

目录号 产品名 蛋白编号 纯度
HY-P77462 PCSK1 Protein, Human (HEK293, His) P29120-1/NP_000430.3 (S111-R617) ≥95%

关联疾病

疾病名称 别名
Proprotein Convertase 1/3 Deficiency

Obesity Due To Prohormone Convertase I Deficiency

Obesity With Impaired Prohormone Processing

Obesity And Endocrinopathy Due To Impaired Processing Of Prohormones

Pci Deficiency

Proprotein Convertase 1 3 Deficiency

Endocrinopathy Due To Proprotein Convertase 1/3 Deficiency

Proprotein Convertase 1 Deficiency

PC1 DEFICIENCY

Body Mass Index Quantitative Trait Locus 12

Obesity

Obesity, Susceptibility To, Bmiq12

BMIQ12

Obesity, Susceptibility To

Obesity Bmiq12

Body Mass Index Quantitative Trait Locus 11

OBESITY

Obesity, Susceptibility To

Leanness, Inherited

Obesity, Susceptibility To, Bmiq11

Obesity, Mild, Early-Onset

Obesity, Association With

Obesity, Early-Onset, Susceptibility To

Obesity, Severe

Obesity, Severe, And Type Ii Diabetes

Obesity, Late-Onset

Obesity , Susceptibility To

BMIQ11

Obesity Bmiq11

Obesity, Early-Onset

Simple Obesity Nos

Excess Fat

Obesity, Not Elsewhere Classified, Body Mass Index Not Elsewhere Classified

Adiposis

Hypogonadism
Leptin Deficiency Or Dysfunction

Morbid Obesity

Obesity Due To Congenital Leptin Deficiency

LEPD

Congenital Leptin Deficiency

Obesity, Morbid

Obesity, Morbid, Due To Leptin Deficiency

Severe Obesity

Obesity, Morbid, Nonsyndromic 1

Leptin Deficiency

Obesity, Severe, Due To Leptin Deficiency

Leptin

Morbid Obesity Due To Leptin Deficiency

Obesity Morbid

Leptin Dysfunction

Diarrhea 4, Malabsorptive, Congenital

Enteric Anendocrinosis

Congenital Malabsorptive Diarrhea 4

DIAR4

Congenital Malabsorptive Diarrhea Due To Paucity Of Enteroendocrine Cells

Congenital Malabsorptive Diarrhoea 4

Congenital Malabsorptive Diarrhoea Due To Paucity Of Enteroendocrine Cells

Diarrhea, Type 4, Malabsorptive, Congenital

Islet Cell Tumor

Pancreatic Neuroendocrine Tumor

Neuroendocrine Tumor Of Pancreas

Pnet

Pancreatic Net

Pancreatic Endocrine Tumor

Well-Differentiated Nen Of Pancreas

Well-Differentiated Neuroendocrine Neoplasm Of Pancreas

Well-Differentiated Pancreatic Nen

Well-Differentiated Pancreatic Neuroendocrine Neoplasm

Endocrine Pancreas Cancer

Islet Cell Neoplasm

Islet Cell Tumour

Malignant Pancreatic Endocrine Tumor

Malignant Pancreatic Endocrine Tumour

Malignant Tumor Of Endocrine Pancreas

Malignant Tumour Of Endocrine Pancreas

Pancreatic Endocrine Neoplasm

Pancreatic Neuroendocrine Neoplasm

Adenoma, Islet Cell

Well Differentiated Pancreatic Endocrine Tumor

Malignant Neoplasm Of Endocrine Pancreas

Pancreatic Endocrine Carcinoma

Kallmann Syndrome

Hypogonadism With Anosmia

Kallman'S Syndrome

Anosmic Hypogonadism

Anosmic Idiopathic Hypogonadotropic Hypogonadism

Hypogonadotropic Hypogonadism And Anosmia

Hypogonadotropic Hypogonadism-Anosmia Syndrome

Olfacto-Genital Pathological Sequence

Familial Hypogonadism With Anosmia

Kallman Syndrome

Dysplasia Olfactogenitalis Of De Morsier

Kallmann'S Syndrome

Congenital Hypogonadotropic Hypogonadism With Anosmia

Prader-Willi Syndrome

Prader-Labhart-Willi Syndrome

PWS

Willi-Prader Syndrome

Prader-Willi Syndrome Due To Translocation

Prader-Willi Syndrome Due To Imprinting Mutation

Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15

Prader Willi Syndrome

Upd(15)Mat

Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease

Polycystic Kidney Disease 1

PKD1

Adpkd

Polycystic Kidney Disease, Adult, Type I

Apkd1

Potter Type Iii Polycystic Kidney Disease

Polycystic Kidney Disease, Adult

Potter Type Iii Polycystic Kidney Disease, Formerly

Polycystic Kidney Disease, Type 1

Adpkd1

Adult Polycystic Kidney Disease Type 1

Autosomal Dominant Polycystic Kidney Disease 1

Pkd-1

Polycystic Kidney Disease Adult

Polycystic Kidney Disease Type I

Polycystic Kidneys

Polycystic Kidney Disease, Adult Type I

Polycystic Kidney Type 1 Autosomal Dominant Disease

Kidney Disease, Polycystic, Type 1

Polycystic Kidney, Autosomal Dominant

Polycystic Kidney, Type 1 Autosomal Dominant Disease

Polycystic Kidney Diseases

Caspase 8 Deficiency

Autoimmune Lymphoproliferative Syndrome Type 2b

Caspase-8 Deficiency

Ceds

Alps2b

Autoimmune Lymphoproliferative Syndrome, Type Iib

Alps With Recurrent Viral Infections

Autoimmune Lymphoproliferative Syndrome With Recurrent Viral Infections

Caspase 8 Deficiency Syndrome

Caspase 8 Lymphadenopathy Syndrome

Autoimmune Lymphoproliferative Syndrome Type Iib

Caspase Eight Deficiency State

CASP8D

Type 1 Diabetes Mellitus 12

Diabetes Mellitus, Insulin-Dependent, 12

IDDM12

Insulin-Dependent Diabetes Mellitus 12

T1D12

Type 1 Diabetes Mellitus 12, Susceptibility To

Diabetes Mellitus, Insulin-Dependent, Type 12

Spinocerebellar Ataxia 44

SCA44

Huntington Disease

Huntington'S Disease

Huntington Chorea

Huntington'S Chorea

HD

Huntington Chronic Progressive Hereditary Chorea

Juvenile Huntington Disease

Chronic Progressive Chorea

Chronic Progressive Hereditary Chorea

Hc - [Huntington Chorea]

Hereditary Chorea

Progressive Hereditary Chorea

Angelman Syndrome

AS

Happy Puppet Syndrome

Happy Puppet Syndrome, Formerly

Puppetlike Syndrome

Wilms Tumor, Aniridia, Genitourinary Anomalies, And Mental Retardation Syndrome

Wagr Syndrome

11p Partial Monosomy Syndrome

Chromosome 11p13 Deletion Syndrome

Wilms Tumor, Aniridia, Genitourinary Anomalies And Mental Retardation Syndrome

11p Deletion Syndrome

Chromosome 11p Deletion Syndrome

Wagr Complex

Wilms Tumor-Aniridia-Genitourinary Anomalies-Intellectual Disability Syndrome

Deletion 11p13

WAGR

Wilms Tumor-Aniridia-Genitourinary Anomalies-Mental Retardation Syndrome

Chromosome 11p Deletion

11p Deletion

11p Monosomy

Deletion 11p

Monosomy 11p

Partial Monosomy 11p

Agr Triad

Wilms Tumor-Aniridia-Gonadoblastoma-Mental Retardation Syndrome

Wilms Tumor, Aniridia, Genitourinary Anomalies, Mental Retardation Syndrome

Wagr Contiguous Gene Syndrome

Wilms Tumor-Aniridia-Genital Anomalies-Retardation Syndrome

Wilms Tumor-Aniridia-Genitourinary Anomalies-Mr Syndrome

Del(11)(P13)

Monosomy 11p13

Chromosome 11, Deletion 11p

Diabetes Mellitus

Diabetes

Maturity-Onset Diabetes Of The Young

MODY

Maturity Onset Diabetes Mellitus In Young

Mason-Type Diabetes

Mason Type Diabetes

Maturity Onset Diabetes Of The Young

Mody Syndrome

Diabetes Of The Young, Maturity-Onset

Type 2 Diabetes Mellitus

Insulin Resistance

NIDDM

Type 2 Diabetes

Diabetes Mellitus, Non-Insulin-Dependent

T2D

Noninsulin-Dependent Diabetes Mellitus

Diabetes Mellitus, Type Ii

Maturity-Onset Diabetes

Insulin Resistance, Severe, Digenic

Diabetes Mellitus, Type 2

Diabetes Mellitus, Noninsulin-Dependent

Diabetes Mellitus, Noninsulin-Dependent, Association With

Diabetes Mellitus, Noninsulin-Dependent, Late Onset

Hypertension, Insulin Resistance-Related, Susceptibility To

Insulin Resistance, Susceptibility To

Non-Insulin-Dependent Diabetes Mellitus

Type Ii Diabetes Mellitus

Adult-Onset Diabetes Mellitus

Maturity-Onset Diabetes Mellitus

Diabetes Mellitus Type 2

Type Ii Diabetes

Type 2 Diabetes Mellitus, Susceptibility To

Diabetes, Type 2

Diabetes Mellitus, Noninsulin-Dependent, Susceptibility To

Diabetes Mellitus, Non-Insulin-Dependent, Susceptibility To

Diabetes Mellitus, Type 2, Susceptibility To

Diabetes Mellitus, Noninsulin-Dependent, 2

Diabetes Mellitus, Type Ii, Susceptibility To

Hypertension, Insulin Resistance-Related

Adult-Onset Diabetes

Aodm

Diabetes Mellitus, Adult-Onset

Diabetes Mellitus Type Ii

Diabetes Mellitus Type 2, Susceptibility To

Diabetes, Type Ii, Susceptibility To

Diabetes Type 2

Diabetes Mellitus

Adult Onset Diabetes

Maturity Onset Diabetes

Nonketotic Diabetes

Non-Insulin Dependent Diabetes Mellitus

T2dm - [Type 2 Diabetes Mellitus]

Niddm - [Non Insulin Dependent Diabetes Mellitus]

Dm2

Dm Type Ii

Diabetic Type 2

Insulin Requiring Type 2 Diabetes

Noninsulin Dependent Diabetes

Non-Insulin-Dependent Diabetes Mellitus Without Complications

Diabetes Due To Insulin Secretory Defect

Diabetes Mellitus Due To Insulin Secretory Defect

Non-Insulin-Dependent Diabetes Of The Young

Senile Diabetes

Nonketotic Hyperglycaemia

Stable Diabetes

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
Bos taurus PCSK1 VGNC VGNC:32646
Mus musculus PCSK1 MGD MGI:97511
Rattus norvegicus PCSK1 RGD RGD:3272
Macaca mulatta PCSK1 VGNC VGNC:75784
Canis familiaris PCSK1 VGNC VGNC:44320
Felis catus PCSK1 VGNC VGNC:68732
Others PCSK1 NCBI