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PRKCSH protein kinase C substrate 80K-H [ Homo sapiens (human) ]

Gene ID: 5589, updated on 4-Oct-2020

Summary

Official Symbol
PRKCSHprovided by HGNC
Official Full Name
protein kinase C substrate 80K-Hprovided by HGNC
Primary source
HGNC:HGNC:9411
See related
Ensembl:ENSG00000130175 MIM:177060
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; G19P1; PCLD1; PKCSH; AGE-R2; VASAP-60
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

Genomic context

See PRKCSH in Genome Data Viewer
Location:
19p13.2
Exon count:
19
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 19 NC_000019.10 (11435290..11450968)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (11546111..11561783)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene erythropoietin receptor Neighboring gene ral guanine nucleotide dissociation stimulator like 3 Neighboring gene outer dynein arm docking complex subunit 3 Neighboring gene ELAV like RNA binding protein 3 Neighboring gene zinc finger protein 653 Neighboring gene microRNA 7974

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

HIV-1 interactions

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
calcium ion binding IEA
Inferred from Electronic Annotation
more info
 
ion channel binding IPI
Inferred from Physical Interaction
more info
PubMed 
phosphoprotein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein kinase C binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
N-glycan processing IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
N-glycan processing IDA
Inferred from Direct Assay
more info
PubMed 
cellular protein metabolic process TAS
Traceable Author Statement
more info
 
intracellular signal transduction NAS
Non-traceable Author Statement
more info
PubMed 
liver development IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
post-translational protein modification TAS
Traceable Author Statement
more info
 
protein folding TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
endoplasmic reticulum IDA
Inferred from Direct Assay
more info
PubMed 
endoplasmic reticulum lumen TAS
Traceable Author Statement
more info
 
glucosidase II complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
glucosidase II complex IDA
Inferred from Direct Assay
more info
PubMed 
intracellular membrane-bounded organelle IMP
Inferred from Mutant Phenotype
more info
PubMed 

General protein information

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, 80 Kda protein
NP_001001329.1
NP_001276031.1
NP_001276032.1
NP_001276033.1
NP_001366537.1
NP_001366538.1
NP_002734.2
XP_011526432.1
XP_011526433.1
XP_011526434.1

NCBI Reference Sequences (RefSeq)

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

  1. NG_009300.1 RefSeqGene

    Range
    5198..20515
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001001329.3NP_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/Swiss-Prot
    P14314
    Conserved Domains (4) summary
    pfam12999
    Location:21163
    PRKCSH-like; Glucosidase II beta subunit-like
    pfam10211
    Location:137211
    Ax_dynein_light; Axonemal dynein light chain
    cl06793
    Location:373504
    PRKCSH; Glucosidase II beta subunit-like protein
    cl28267
    Location:166382
    FimV; Tfp pilus assembly protein FimV [Cell motility, Extracellular structures]
  2. NM_001289102.2NP_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/Swiss-Prot
    P14314
    Related
    ENSP00000466012.1, ENST00000587327.5
    Conserved Domains (4) summary
    pfam12999
    Location:21163
    PRKCSH-like; Glucosidase II beta subunit-like
    pfam10211
    Location:137211
    Ax_dynein_light; Axonemal dynein light chain
    cl06793
    Location:373504
    PRKCSH; Glucosidase II beta subunit-like protein
    cl28267
    Location:166382
    FimV; Tfp pilus assembly protein FimV [Cell motility, Extracellular structures]
  3. NM_001289103.2NP_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:21163
    PRKCSH-like; Glucosidase II beta subunit-like
    smart00192
    Location:70105
    LDLa; Low-density lipoprotein receptor domain class A
    TIGR02794
    Location:118279
    tolA_full; TolA protein
    pfam10211
    Location:137211
    Ax_dynein_light; Axonemal dynein light chain
    cl06793
    Location:383514
    PRKCSH; Glucosidase II beta subunit-like protein
  4. NM_001289104.2NP_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
    Conserved Domains (5) summary
    pfam12999
    Location:21163
    PRKCSH-like; Glucosidase II beta subunit-like
    smart00192
    Location:70105
    LDLa; Low-density lipoprotein receptor domain class A
    TIGR02794
    Location:118279
    tolA_full; TolA protein
    pfam10211
    Location:137211
    Ax_dynein_light; Axonemal dynein light chain
    cl06793
    Location:383514
    PRKCSH; Glucosidase II beta subunit-like protein
  5. NM_001379608.1NP_001366537.1  glucosidase 2 subunit beta isoform 1 precursor

    Status: REVIEWED

    Source sequence(s)
    AC008481
  6. NM_001379609.1NP_001366538.1  glucosidase 2 subunit beta idoform 2 precursor

    Status: REVIEWED

    Source sequence(s)
    AC008481
  7. NM_002743.3NP_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
    P14314
    Related
    ENSP00000465461.1, ENST00000589838.5
    Conserved Domains (5) summary
    pfam12999
    Location:21163
    PRKCSH-like; Glucosidase II beta subunit-like
    smart00192
    Location:70105
    LDLa; Low-density lipoprotein receptor domain class A
    TIGR02794
    Location:118279
    tolA_full; TolA protein
    pfam10211
    Location:137211
    Ax_dynein_light; Axonemal dynein light chain
    cl06793
    Location:376507
    PRKCSH; Glucosidase II beta subunit-like protein

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20200815

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p13 Primary Assembly

    Range
    11435290..11450968
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011528130.1XP_011526432.1  glucosidase 2 subunit beta isoform X1

    See identical proteins and their annotated locations for XP_011526432.1

    UniProtKB/TrEMBL
    K7ELL7
    Conserved Domains (5) summary
    pfam12999
    Location:21163
    PRKCSH-like; Glucosidase II beta subunit-like
    smart00192
    Location:70105
    LDLa; Low-density lipoprotein receptor domain class A
    TIGR02794
    Location:118279
    tolA_full; TolA protein
    pfam10211
    Location:137211
    Ax_dynein_light; Axonemal dynein light chain
    cl06793
    Location:383514
    PRKCSH; Glucosidase II beta subunit-like protein
  2. XM_011528132.1XP_011526434.1  glucosidase 2 subunit beta isoform X3

    See identical proteins and their annotated locations for XP_011526434.1

    UniProtKB/Swiss-Prot
    P14314
    Related
    ENSP00000465489.1, ENST00000591462.5
    Conserved Domains (4) summary
    pfam12999
    Location:21163
    PRKCSH-like; Glucosidase II beta subunit-like
    pfam10211
    Location:137211
    Ax_dynein_light; Axonemal dynein light chain
    cl06793
    Location:373504
    PRKCSH; Glucosidase II beta subunit-like protein
    cl28267
    Location:166382
    FimV; Tfp pilus assembly protein FimV [Cell motility, Extracellular structures]
  3. XM_011528131.1XP_011526433.1  glucosidase 2 subunit beta isoform X2

    See identical proteins and their annotated locations for XP_011526433.1

    UniProtKB/Swiss-Prot
    P14314
    Conserved Domains (5) summary
    pfam12999
    Location:21163
    PRKCSH-like; Glucosidase II beta subunit-like
    smart00192
    Location:70105
    LDLa; Low-density lipoprotein receptor domain class A
    TIGR02794
    Location:118279
    tolA_full; TolA protein
    pfam10211
    Location:137211
    Ax_dynein_light; Axonemal dynein light chain
    cl06793
    Location:376507
    PRKCSH; Glucosidase II beta subunit-like protein
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