1. Gene
  2. PRKCSH - protein kinase C substrate 80K-H Gene

PRKCSH - protein kinase C substrate 80K-H Gene

中文名称:蛋白激酶 C 底物 80K-H

种属: Homo sapiens

同用名: GIIB; PCLD; PLD1; G19P1; PCLD1; PKCSH; AGE-R2; VASAP-60

基因 ID: 5589 | 基因类型: protein coding

关于 PRKCSH

Cytogenetic location: 19p13.2 Genomic coordinates (GRCh38): 19:11,435,635-11,450,968 (from NCBI)

This gene has 22 transcripts (splice variants), 188 orthologues, 1 paralogue and is associated with 2 phenotypes. Ubiquitous expression in ovary (RPKM 74.5), thyroid (RPKM 56.4) and 25 other tissues.

功能概要

该基因编码葡萄糖苷酶 II 的 β 亚基,葡萄糖苷酶 II 是内质网中的一种 N-连接聚糖加工酶。编码的蛋白质是一种酸性磷蛋白,已知是蛋白激酶 C 的底物。该基因的突变与常染色体显性多囊性肝病有关。可变剪接导致多个转录本变体。[RefSeq 提供,2014 年 1 月]

This gene encodes the beta-subunit of glucosidase II, an N-linked glycan-processing enzyme in the endoplasmic reticulum. The encoded protein is an acidic phosphoprotein known to be a substrate for protein kinase C. Mutations in this gene have been associated with the autosomal dominant polycystic liver disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]

PRKCSH 基因产物(7)

mRNA Protein Name
NM_001001329.3 NP_001001329.1 glucosidase 2 subunit beta isoform 2 precursor
NM_001289102.2 NP_001276031.1 glucosidase 2 subunit beta isoform 2 precursor
NM_001289103.2 NP_001276032.1 glucosidase 2 subunit beta isoform 3 precursor
NM_001289104.2 NP_001276033.1 glucosidase 2 subunit beta isoform 3 precursor
NM_001379608.1 NP_001366537.1 glucosidase 2 subunit beta isoform 1 precursor
NM_001379609.1 NP_001366538.1 glucosidase 2 subunit beta isoform 2 precursor
NM_002743.3 NP_002734.2 glucosidase 2 subunit beta isoform 1 precursor
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables phosphoprotein binding IPI
IPI: 通过物理相互作用推断
19801576 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
10929008 GOA
enables protein kinase C binding IPI
IPI: 通过物理相互作用推断
15707389 GOA
enables transmembrane transporter binding IPI
IPI: 通过物理相互作用推断
19801576 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in N-glycan processing IDA
IDA: 通过直接分析推断
10929008 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in endoplasmic reticulum IDA
IDA: 通过直接分析推断
19801576 GOA
part of glucosidase II complex IDA
IDA: 通过直接分析推断
10929008 GOA
part of glucosidase II complex IPI
IPI: 通过物理相互作用推断
10929008 GOA
located in intracellular membrane-bounded organelle IMP
IMP: 通过突变表型推断
10929008 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

PRKCSH 蛋白结构

PRKCSH-like

PRKCSH-like: Glucosidase II beta subunit-like (10 - 163)

EF-hand_5

EF-hand_5: EF hand (216 - 236)

EF-hand_5

EF-hand_5: EF hand (240 - 256)

PRKCSH_1

PRKCSH_1: Glucosidase II beta subunit-like protein (375 - 512)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 500
  • 528 a.a.
蛋白主名 其他名称

glucosidase 2 subunit beta

AGE-binding receptor 2

PRKCSH 抗体

目录号 产品名 应用 反应物种
HY-P80405 Glucosidase 2 subunit beta Antibody (YA409) WB, IHC-P, ICC/IF Human

关联疾病

疾病名称 别名
Polycystic Liver Disease 1 With Or Without Kidney Cysts

Polycystic Liver Disease 1

PCLD1

Cyst

Liver Disease, Polycystic, Type 1

Polycystic Liver Disease

Polycystic Liver Disease

Autosomal Dominant Polycystic Liver Disease

Isolated Polycystic Liver Disease

Pcld

Congenital Cystic Liver Disease

Congenital Hepatic Cyst

Fibrocystic Liver Disease

Isolated Autosomal Dominant Polycystic Liver Disease

Adpcld

Liver Disease, Polycystic

Multiple Cysts Of Liver

Pld - [Polycystic Liver Disease]

Polycystic Liver Disorder

Polycystic Liver

Congenital Polycystic Disease Of Liver

Congenital Polycystic Liver Disease

Liver Disease

Liver Failure

Liver Diseases

Abnormality Of The Liver

Liver Dysfunction

Disorder Of Liver

Hepatic Disorder

Hepatic Disease

Disease Of Bilirubin Metabolism

Disorder Of Bilirubin Metabolism

Liver Decompensation

Liver Function Failure

Hepatic Failure Nos

Liver Failure Nos

End Stage Liver Disease

Decompensated Liver Failure

Decompensation Of Liver Function

Hepatic Decompensation

Hepatic Insufficiency

Liver Cell Necrosis With Hepatic Failure

Liver Insufficiency

Decompensated Liver Disease

End Stage Liver Failure

Liver Necrosis With Hepatic Failure

Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease

Autosomal Recessive Polycystic Kidney Disease

Arpkd

Polycystic Kidney Disease, Autosomal Recessive

Polycystic Kidney And Hepatic Disease 1

Pkhd1

PKD4

Polycystic Kidney Disease 4 With Or Without Hepatic Disease

Polycystic Kidney Disease, Infantile, Type I

Polycystic Kidney Disease, Infantile Type

Polycystic Kidney, Autosomal Recessive

Pkd3, Formerly

Polycystic Kidney Disease 4, With Or Without Hepatic Disease

Arpkd/Chf

Ar-Pkd

Polycystic Kidney Disease 4, With Or Without Polycystic Liver Disease

Infantile Polycystic Kidney Disease Type I

Pkd3

Kidney, Polycystic, Disease, Type 4, With/Without Hepatic Disease

Polycystic Kidney Disease 3, Autosomal Dominant

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

Polycystic Kidney Disease

Polycystic Kidney Diseases

Pkd

Polycystic Renal Disease

Kidney Disease, Polycystic

Polycystic Kidney, Autosomal Dominant

Caroli Disease

Caroli Disease Isolated

Congenital Polycystic Dilatation Of Intrahepatic Bile Ducts

Cystic Dilatation Of The Intrahepatic Biliary Tree

Caroli Syndrome

Carolis Disease

Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease

PKD3

Polycystic Kidney Disease, Adult, Type Iii

Apkd3

Polycystic Kidney Disease 3

Polycystic Kidney Disease, Type 3

Polycystic Kidney Disease 3 Without Polycystic Liver Disease

Polycystic Kidney Disease 3, Autosomal Dominant

Congenital Anomalies Of Kidney And Urinary Tract 1

CAKUT1

Renal Hypodysplasia, Nonsyndromic, 1

Rhdns1

Congenital Anomalies Of The Kidney And Urinary Tract 1

Non-Syndromic Renal Hypodysplasia 1

Kidney And Urinary Tract, Anomalies, Congenital, Susceptibility To, Type 1

Nephronophthisis-Like Nephropathy 1

NPHPL1

Nephronophthisis-Like Nephropathy, Type 1

Renal Dysplasia, Cystic

CYSRD

Renal Dysplasia, Cystic, Susceptibility To

Diffuse Cystic Renal Dysplasia

Renal Dysplasia Diffuse Cystic

Cystic Renal Dysplasia

Susceptibility To Cystic Renal Dysplasia

Dysplasia, Renal, Cystic, Susceptibility To

Multicystic Dysplastic Kidney

Autosomal Dominant Polycystic Kidney Disease

Polycystic Kidney Disease, Adult Type

Adpkd

Polycystic Kidney Diseases

Polycystic Kidney, Autosomal Dominant

Congenital Biliary Ectasias

Polycystic Kidney And Hepatic Disease 1

Polycystic Kidney Disease, Autosomal Dominant

Kidney, Polycystic, Disease, Autosomal Dominant

Adult Polycystic Kidney Disease

Polycystic Kidney, Adult Type

Apckd - [Autosomal Polycystic Kidney Disease]

Cystic Kidney Disease

Renal Cyst

Simple Renal Cyst

Kidney Cysts

Kidney Diseases, Cystic

Renal Cysts

Kidney Cyst

Cystic Kidney

Congenital Cystic Kidney Disease

Cystic Kidney Diseases

Bosniak 1 Cyst

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 PRKCSH VGNC VGNC:76417
Canis familiaris PRKCSH VGNC VGNC:44984
Felis catus PRKCSH VGNC VGNC:69068
Bos taurus PRKCSH VGNC VGNC:33335
Mus musculus PRKCSH MGD MGI:107877
Rattus norvegicus PRKCSH RGD RGD:1309628