PRKCSH - protein kinase C substrate 80K-H Gene

Also Known as GIIB; PCLD; PLD1; G19P1; PCLD1; PKCSH; AGE-R2; VASAP-60

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 5589

About 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.

Summary

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 Products (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
Molecular Function GO Annotation Evidence References Source
enables phosphoprotein binding IPI
IPI: Inferred from physical interaction
19801576 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
10929008 GOA
enables protein kinase C binding IPI
IPI: Inferred from physical interaction
15707389 GOA
enables transmembrane transporter binding IPI
IPI: Inferred from physical interaction
19801576 GOA
Biological Process GO Annotation Evidence References Source
involved in N-glycan processing IDA
IDA: Inferred from direct assay
10929008 GOA
Cellular Component GO Annotation Evidence References Source
located in endoplasmic reticulum IDA
IDA: Inferred from direct assay
19801576 GOA
part of glucosidase II complex IDA
IDA: Inferred from direct assay
10929008 GOA
part of glucosidase II complex IPI
IPI: Inferred from physical interaction
10929008 GOA
located in intracellular membrane-bounded organelle IMP
IMP: Inferred from mutant phenotype
10929008 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

PRKCSH Protein Structure

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.
Protein Preferred Names Protein Names

glucosidase 2 subunit beta

  • AGE-binding receptor 2

PRKCSH Antibodies

Cat. No. Product Name Application Reactivity
HY-P80405 Glucosidase 2 subunit beta Antibody (YA409) WB, IHC-P, ICC/IF Human

Related Diseases

Diseases Alias
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

Diseases Alias
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

Orthologs Information

Species Symbol Source 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
Others PRKCSH NCBI