PRKCSH - protein kinase C substrate 80K-H Gene

Homo sapiens

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

Gene ID: 5589 | Gene type: protein coding

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

PRKCSH Protein Structure

PRKCSH-like

EF-hand_5

PRKCSH_1

0
100
200
300
400
500
528 a.a.

Protein Preferred Names

Protein Names

glucosidase 2 subunit beta

AGE-binding receptor 2

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

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS11140	PRKCSH Human Pre-designed siRNA Set A		/	Unkown

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

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