PRKCSH PRKCSH beta subunit of glucosidase II [Homo sapiens (human)] - Gene

Summary

Official Symbol: PRKCSHprovided by HGNC
Official Full Name: PRKCSH beta subunit of glucosidase IIprovided by HGNC
Primary source: HGNC:HGNC:9411
See related: Ensembl:ENSG00000130175 MIM:177060; AllianceGenome:HGNC:9411
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: GIIB; PCLD; PLD1; 80K-H; G19P1; PCLD1; PKCSH; AGE-R2; GIIbeta; VASAP-60; GluIIbeta
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]
Expression: Ubiquitous expression in ovary (RPKM 74.5), thyroid (RPKM 56.4) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 19p13.2

Exon count:: 18

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	19	NC_000019.10 (11435635..11450968)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	19	NC_060943.1 (11563157..11578487)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	19	NC_000019.9 (11546456..11561783)

Chromosome 19 - NC_000019.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

PRKCSH serves as a potential immunological and prognostic biomarker in pan-cancer.
Title: PRKCSH serves as a potential immunological and prognostic biomarker in pan-cancer.
Potential role of PRKCSH in lung cancer: bioinformatics analysis and a case study of Nano ZnO.
Title: Potential role of PRKCSH in lung cancer: bioinformatics analysis and a case study of Nano ZnO.
Results suggest that loss of PRKCSH and SEC63 leads to general defects in ciliogenesis, while quenching of the Wnt signaling cascade is cholangiocyte-restricted.
Title: Liver cyst gene knockout in cholangiocytes inhibits cilium formation and Wnt signaling.
This study demonstrated that Large copy number variations on germline level are not present in patients with a clinical diagnosis of Severe Polycystic Liver Disease.
Title: Severe Polycystic Liver Disease Is Not Caused by Large Deletions of the PRKCSH Gene.
Polycystic liver disease is recessive at the cellular level, and loss of functional PRKCSH is an important step in cystogenesis.
Title: Secondary, somatic mutations might promote cyst formation in patients with autosomal dominant polycystic liver disease.
The induction of autophagy by hepatocystin deficiency is mediated through mammalian target of rapamycin (mTOR).
Title: Deficiency of hepatocystin induces autophagy through an mTOR-dependent pathway.
Results provide evidence that mutations at the coding PRKCSH GAG repeat are a target of MSI and are selectively associated with the MSI-H phenotype in gastric carcinomas.
Title: PRKCSH GAG trinucleotide repeat is a mutational target in gastric carcinomas with high-level microsatellite instability.
The common SNPs tested in DDOST, PRKCSH and LGALS3 do not seem to be associated with diabetic micro- or macrovascular complications or with type 1 diabetes in Finnish patients.
Title: DDOST, PRKCSH and LGALS3, which encode AGE-receptors 1, 2 and 3, respectively, are not associated with diabetic nephropathy in type 1 diabetes.
identified a total of 26 novel mutations in PRKCSH (n = 14) and SEC63 (n = 12), including four splice site mutations, eight insertions/ deletions, six non-sense mutations, and eight missense mutations
Title: Secondary and tertiary structure modeling reveals effects of novel mutations in polycystic liver disease genes PRKCSH and SEC63.
Our results suggest that PRKCSH gene is not a major genetic cause of PCLD and there may be at least another locus responsible for the disease in Taiwan.
Title: PRKCSH genetic mutation was not found in Taiwanese patients with polycystic liver disease.

Submit: New GeneRIF Correction See all GeneRIFs (22)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Polycystic liver disease 1 MedGen: C0887850 OMIM: 174050 GeneReviews: Not available	not available

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Envelope surface glycoprotein gp120	env	HIV-1 gp120 is identified to have a physical interaction with protein kinase C substrate 80K-H (PRKCSH) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses	PubMed
Envelope surface glycoprotein gp160, precursor	env	HIV-1 gp160 is identified to have a physical interaction with protein kinase C substrate 80K-H (PRKCSH) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses	PubMed
Envelope transmembrane glycoprotein gp41	env	HIV-1 gp41 is identified to have a physical interaction with protein kinase C substrate 80K-H (PRKCSH) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables calcium ion binding	IEA Inferred from Electronic Annotation more info
enables phosphoprotein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein kinase C binding	IPI Inferred from Physical Interaction more info	PubMed
enables transmembrane transporter binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in N-glycan processing	IBA Inferred from Biological aspect of Ancestor more info
involved_in N-glycan processing	IDA Inferred from Direct Assay more info	PubMed
involved_in intracellular signal transduction	NAS Non-traceable Author Statement more info	PubMed
involved_in liver development	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in endoplasmic reticulum	IDA Inferred from Direct Assay more info	PubMed
located_in endoplasmic reticulum lumen	NAS Non-traceable Author Statement more info	PubMed
located_in endoplasmic reticulum lumen	TAS Traceable Author Statement more info
part_of glucosidase II complex	IBA Inferred from Biological aspect of Ancestor more info
part_of glucosidase II complex	IDA Inferred from Direct Assay more info	PubMed
part_of glucosidase II complex	IPI Inferred from Physical Interaction more info	PubMed
located_in intracellular membrane-bounded organelle	IMP Inferred from Mutant Phenotype more info	PubMed

General protein information

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Preferred Names: glucosidase 2 subunit beta

Names: AGE-binding receptor 2; advanced glycation end-product receptor 2; glucosidase II subunit beta; hepatocystin; protein kinase C substrate 60.1 kDa protein heavy chain; protein kinase C substrate 80K-H; protein kinase C substrate, 80 Kda protein

NP_001001329.1

EC 2.7.11.1

NP_001276031.1

EC 2.7.11.1

NP_001276032.1

EC 2.7.11.1

NP_001276033.1

EC 2.7.11.1

NP_001366537.1

EC 2.7.11.1

NP_001366538.1

EC 2.7.11.1

NP_002734.2

EC 2.7.11.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_009300.2 RefSeqGene

Range

5002..20335

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001001329.3 → NP_001001329.1 glucosidase 2 subunit beta isoform 2 precursor

See identical proteins and their annotated locations for NP_001001329.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) has a longer 5' UTR, and uses two alternate in-frame splice sites in the central coding region, compared to variant 1. The encoded isoform (2) is shorter, compared to isoform 1. Both variants 2 and 3 encode the same isoform.

Source sequence(s)

AK130663, AK225390, BI254784

Consensus CDS

CCDS45977.1

UniProtKB/TrEMBL

B4DJQ5

Related

ENSP00000465489.1, ENST00000591462.6

Conserved Domains (4) summary

COG1196
Location:117 → 214

Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]

COG3170
Location:166 → 382

FimV; Tfp pilus assembly protein FimV [Cell motility, Extracellular structures]

pfam12999
Location:21 → 163

PRKCSH-like; Glucosidase II beta subunit-like

cl06793
Location:373 → 504

PRKCSH; Glucosidase II beta subunit-like protein
NM_001289102.2 → NP_001276031.1 glucosidase 2 subunit beta isoform 2 precursor

See identical proteins and their annotated locations for NP_001276031.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) differs in the 5' UTR, and uses two alternate in-frame splice sites in the central coding region, compared to variant 1. The encoded isoform (2) is shorter, compared to isoform 1. Both variants 2 and 3 encode the same isoform.

Source sequence(s)

AK225390, AK290433

Consensus CDS

CCDS45977.1

UniProtKB/TrEMBL

B4DJQ5

Related

ENSP00000466012.1, ENST00000587327.5

Conserved Domains (4) summary

COG1196
Location:117 → 214

Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]

COG3170
Location:166 → 382

FimV; Tfp pilus assembly protein FimV [Cell motility, Extracellular structures]

pfam12999
Location:21 → 163

PRKCSH-like; Glucosidase II beta subunit-like

cl06793
Location:373 → 504

PRKCSH; Glucosidase II beta subunit-like protein
NM_001289103.2 → NP_001276032.1 glucosidase 2 subunit beta isoform 3 precursor

See identical proteins and their annotated locations for NP_001276032.1

Status: REVIEWED

Description

Transcript Variant: This variant (4) differs in its 5' UTR, and uses an alternate in-frame splice site in the central coding region, compared to variant 1. The encoded isoform (3) is longer, compared to isoform 1. Both variants 4 and 5 encode the same isoform.

Source sequence(s)

AK225279, AK296187

Consensus CDS

CCDS74286.1

UniProtKB/TrEMBL

B4DJQ5, K7ELL7

Related

ENSP00000466134.1, ENST00000592741.5

Conserved Domains (5) summary

pfam12999
Location:21 → 163

PRKCSH-like; Glucosidase II beta subunit-like

smart00192
Location:70 → 105

LDLa; Low-density lipoprotein receptor domain class A

TIGR02794
Location:118 → 279

tolA_full; TolA protein

pfam10211
Location:137 → 211

Ax_dynein_light; Axonemal dynein light chain

cl06793
Location:383 → 514

PRKCSH; Glucosidase II beta subunit-like protein
NM_001289104.2 → NP_001276033.1 glucosidase 2 subunit beta isoform 3 precursor

See identical proteins and their annotated locations for NP_001276033.1

Status: REVIEWED

Description

Transcript Variant: This variant (5) has a longer 5' UTR, and uses an alternate in-frame splice site in the central coding region, compared to variant 1. The encoded isoform (3) is longer, compared to isoform 1. Both variants 4 and 5 encode the same isoform.

Source sequence(s)

AK130663, AK225390, AK296187

Consensus CDS

CCDS74286.1

UniProtKB/TrEMBL

B4DJQ5, K7ELL7

Related

ENSP00000503163.1, ENST00000677123.1

Conserved Domains (5) summary

pfam12999
Location:21 → 163

PRKCSH-like; Glucosidase II beta subunit-like

smart00192
Location:70 → 105

LDLa; Low-density lipoprotein receptor domain class A

TIGR02794
Location:118 → 279

tolA_full; TolA protein

pfam10211
Location:137 → 211

Ax_dynein_light; Axonemal dynein light chain

cl06793
Location:383 → 514

PRKCSH; Glucosidase II beta subunit-like protein
NM_001379608.1 → NP_001366537.1 glucosidase 2 subunit beta isoform 1 precursor

Status: REVIEWED

Source sequence(s)

AC008481

Consensus CDS

CCDS32911.1

UniProtKB/Swiss-Prot

A8K318, P14314, Q96BU9, Q96D06, Q9P0W9

UniProtKB/TrEMBL

B4DJQ5

Conserved Domains (3) summary

COG1196
Location:117 → 214

Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]

pfam12999
Location:21 → 163

PRKCSH-like; Glucosidase II beta subunit-like

cl06793
Location:376 → 507

PRKCSH; Glucosidase II beta subunit-like protein
NM_001379609.1 → NP_001366538.1 glucosidase 2 subunit beta isoform 2 precursor

Status: REVIEWED

Source sequence(s)

AC008481

Consensus CDS

CCDS45977.1

UniProtKB/TrEMBL

B4DJQ5

Conserved Domains (4) summary

COG1196
Location:117 → 214

Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]

COG3170
Location:166 → 382

FimV; Tfp pilus assembly protein FimV [Cell motility, Extracellular structures]

pfam12999
Location:21 → 163

PRKCSH-like; Glucosidase II beta subunit-like

cl06793
Location:373 → 504

PRKCSH; Glucosidase II beta subunit-like protein
NM_002743.3 → NP_002734.2 glucosidase 2 subunit beta isoform 1 precursor

See identical proteins and their annotated locations for NP_002734.2

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes isoform 1.

Source sequence(s)

AF144075, AK225390, HY029996, J03075

Consensus CDS

CCDS32911.1

UniProtKB/Swiss-Prot

A8K318, P14314, Q96BU9, Q96D06, Q9P0W9

UniProtKB/TrEMBL

B4DJQ5

Related

ENSP00000465461.1, ENST00000589838.5

Conserved Domains (3) summary

COG1196
Location:117 → 214

Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]

pfam12999
Location:21 → 163

PRKCSH-like; Glucosidase II beta subunit-like

cl06793
Location:376 → 507

PRKCSH; Glucosidase II beta subunit-like protein