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

Gene ID: 5589, updated on 8-May-2016
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 HPRD:03518; MIM:177060; Vega:OTTHUMG00000182029
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; 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]
Orthologs
Location:
19p13.2
Exon count:
18
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 19 NC_000019.10 (11435257..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 coiled-coil domain containing 151 Neighboring gene ELAV like neuron-specific RNA binding protein 3 Neighboring gene zinc finger protein 653 Neighboring gene microRNA 7974

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

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

  • Advanced glycosylation endproduct receptor signaling, organism-specific biosystem (from REACTOME)
    Advanced glycosylation endproduct receptor signaling, organism-specific biosystemAdvanced Glycosylation End- product-specific Receptor (AGER) also known as Receptor for Advanced Glycation End-products (RAGE) is a multi-ligand membrane receptor belonging to the immunoglobulin supe...
  • Asparagine N-linked glycosylation, organism-specific biosystem (from REACTOME)
    Asparagine N-linked glycosylation, organism-specific biosystemN-linked glycosylation is the most important form of post-translational modification for proteins synthesized and folded in the Endoplasmic Reticulum (Stanley et al. 2009). An early study in 1999 rev...
  • Calnexin/calreticulin cycle, organism-specific biosystem (from REACTOME)
    Calnexin/calreticulin cycle, organism-specific biosystemThe unfolded protein is recognized by a chaperon protein (calnexin or calreticulin) and the folding process starts. The binding of these protein requires a mono-glucosylated glycan (Caramelo JJ and P...
  • Immune System, organism-specific biosystem (from REACTOME)
    Immune System, organism-specific biosystemHumans are exposed to millions of potential pathogens daily, through contact, ingestion, and inhalation. Our ability to avoid infection depends on the adaptive immune system and during the first crit...
  • Innate Immune System, organism-specific biosystem (from REACTOME)
    Innate Immune System, organism-specific biosystemInnate immunity encompases the nonspecific part of immunity tha are part of an individual's natural biologic makeup
  • Metabolism of proteins, organism-specific biosystem (from REACTOME)
    Metabolism of proteins, organism-specific biosystemProtein metabolism comprises the pathways of translation, post-translational modification and protein folding.
  • N-glycan trimming in the ER and Calnexin/Calreticulin cycle, organism-specific biosystem (from REACTOME)
    N-glycan trimming in the ER and Calnexin/Calreticulin cycle, organism-specific biosystemAfter being synthesized in the ER membrane the 14-sugars lipid-linked oligosaccharide is co-translationally transferred to an unfolded protein, as described in the previous steps. After this point th...
  • Post-translational protein modification, organism-specific biosystem (from REACTOME)
    Post-translational protein modification, organism-specific biosystemAfter translation, many newly formed proteins undergo further covalent modifications that alter their functional properties and that are essentially irreversible under physiological conditions in the...
  • Protein processing in endoplasmic reticulum, organism-specific biosystem (from KEGG)
    Protein processing in endoplasmic reticulum, organism-specific biosystemThe endoplasmic reticulum (ER) is a subcellular organelle where proteins are folded with the help of lumenal chaperones. Newly synthesized peptides enter the ER via the sec61 pore and are glycosylate...
  • Protein processing in endoplasmic reticulum, conserved biosystem (from KEGG)
    Protein processing in endoplasmic reticulum, conserved biosystemThe endoplasmic reticulum (ER) is a subcellular organelle where proteins are folded with the help of lumenal chaperones. Newly synthesized peptides enter the ER via the sec61 pore and are glycosylate...
Products Interactant Other Gene Complex Source Pubs Description

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 kinase C binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
N-glycan processing IEA
Inferred from Electronic Annotation
more info
 
intracellular signal transduction NAS
Non-traceable Author Statement
more info
PubMed 
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
 
intracellular NAS
Non-traceable Author Statement
more info
PubMed 
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_002734.2

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_001001329.2NP_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, HY029996, HY051935
    Consensus CDS
    CCDS45977.1
    UniProtKB/Swiss-Prot
    P14314
    Conserved Domains (4) summary
    pfam12999
    Location:21163
    PRKCSH-like; Glucosidase II beta subunit-like
    smart00192
    Location:70105
    LDLa; Low-density lipoprotein receptor domain class A
    cl06793
    Location:373504
    PRKCSH; Glucosidase II beta subunit-like protein
    cl21478
    Location:152236
    Mt_ATP-synt_B; Mitochondrial ATP synthase B chain precursor (ATP-synt_B)
  2. NM_001289102.1NP_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, BP242217
    Consensus CDS
    CCDS45977.1
    UniProtKB/Swiss-Prot
    P14314
    Related
    ENSP00000466012, OTTHUMP00000268132, ENST00000587327, OTTHUMT00000458816
    Conserved Domains (4) summary
    pfam12999
    Location:21163
    PRKCSH-like; Glucosidase II beta subunit-like
    smart00192
    Location:70105
    LDLa; Low-density lipoprotein receptor domain class A
    cl06793
    Location:373504
    PRKCSH; Glucosidase II beta subunit-like protein
    cl21478
    Location:152236
    Mt_ATP-synt_B; Mitochondrial ATP synthase B chain precursor (ATP-synt_B)
  3. NM_001289103.1NP_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, BI254784, HY029996, HY051935
    Consensus CDS
    CCDS74286.1
    UniProtKB/TrEMBL
    B4DJQ5, K7ELL7
    Related
    ENSP00000466134, OTTHUMP00000268130, ENST00000592741, OTTHUMT00000458813
    Conserved Domains (4) summary
    pfam12999
    Location:21163
    PRKCSH-like; Glucosidase II beta subunit-like
    smart00192
    Location:70105
    LDLa; Low-density lipoprotein receptor domain class A
    cl06793
    Location:383514
    PRKCSH; Glucosidase II beta subunit-like protein
    cl21478
    Location:152236
    Mt_ATP-synt_B; Mitochondrial ATP synthase B chain precursor (ATP-synt_B)
  4. NM_001289104.1NP_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, DB024838, HY029996, HY051935
    Consensus CDS
    CCDS74286.1
    UniProtKB/TrEMBL
    B4DJQ5, K7ELL7
    Conserved Domains (4) summary
    pfam12999
    Location:21163
    PRKCSH-like; Glucosidase II beta subunit-like
    smart00192
    Location:70105
    LDLa; Low-density lipoprotein receptor domain class A
    cl06793
    Location:383514
    PRKCSH; Glucosidase II beta subunit-like protein
    cl21478
    Location:152236
    Mt_ATP-synt_B; Mitochondrial ATP synthase B chain precursor (ATP-synt_B)
  5. 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, OTTHUMP00000268133, ENST00000589838, OTTHUMT00000458817
    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
    cl06793
    Location:376507
    PRKCSH; Glucosidase II beta subunit-like protein
    TIGR02794
    Location:118279
    tolA_full; TolA protein
    cl21478
    Location:152236
    Mt_ATP-synt_B; Mitochondrial ATP synthase B chain precursor (ATP-synt_B)

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107 details...

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p2 Primary Assembly

    Range
    11435257..11450968
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011528130.1XP_011526432.1  

    See identical proteins and their annotated locations for XP_011526432.1

    UniProtKB/TrEMBL
    K7ELL7
    Conserved Domains (4) summary
    pfam12999
    Location:21163
    PRKCSH-like; Glucosidase II beta subunit-like
    smart00192
    Location:70105
    LDLa; Low-density lipoprotein receptor domain class A
    cl06793
    Location:383514
    PRKCSH; Glucosidase II beta subunit-like protein
    cl21478
    Location:152236
    Mt_ATP-synt_B; Mitochondrial ATP synthase B chain precursor (ATP-synt_B)
  2. XM_011528132.1XP_011526434.1  

    See identical proteins and their annotated locations for XP_011526434.1

    UniProtKB/Swiss-Prot
    P14314
    Related
    ENSP00000465489, OTTHUMP00000268125, ENST00000591462, OTTHUMT00000458806
    Conserved Domains (4) summary
    pfam12999
    Location:21163
    PRKCSH-like; Glucosidase II beta subunit-like
    smart00192
    Location:70105
    LDLa; Low-density lipoprotein receptor domain class A
    cl06793
    Location:373504
    PRKCSH; Glucosidase II beta subunit-like protein
    cl21478
    Location:152236
    Mt_ATP-synt_B; Mitochondrial ATP synthase B chain precursor (ATP-synt_B)
  3. XM_011528131.1XP_011526433.1  

    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
    cl06793
    Location:376507
    PRKCSH; Glucosidase II beta subunit-like protein
    TIGR02794
    Location:118279
    tolA_full; TolA protein
    cl21478
    Location:152236
    Mt_ATP-synt_B; Mitochondrial ATP synthase B chain precursor (ATP-synt_B)

Alternate CHM1_1.1

Genomic

  1. NC_018930.2 Alternate CHM1_1.1

    Range
    11546100..11561813
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)