Format

Send to:

Choose Destination
    • Showing Current items.

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

    Gene ID: 5589, updated on 8-Jul-2021

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See PRKCSH in Genome Data Viewer
    Location:
    19p13.2
    Exon count:
    19
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 19 NC_000019.10 (11435290..11450968)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (11546456..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
    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
    PubMed 
    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
    PubMed 
    Component Evidence Code Pubs
    located_in endoplasmic reticulum IDA
    Inferred from Direct Assay
    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
    PubMed 
    part_of glucosidase II complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in 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)

    NEW Try the new Transcript table

    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
      Related
      ENSP00000465489.1, ENST00000591462.6
      Conserved Domains (4) summary
      COG1196
      Location:117214
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      COG3170
      Location:166382
      FimV; Tfp pilus assembly protein FimV [Cell motility, Extracellular structures]
      pfam12999
      Location:21163
      PRKCSH-like; Glucosidase II beta subunit-like
      cl06793
      Location:373504
      PRKCSH; Glucosidase II beta subunit-like protein
    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
      COG1196
      Location:117214
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      COG3170
      Location:166382
      FimV; Tfp pilus assembly protein FimV [Cell motility, Extracellular structures]
      pfam12999
      Location:21163
      PRKCSH-like; Glucosidase II beta subunit-like
      cl06793
      Location:373504
      PRKCSH; Glucosidase II beta subunit-like protein
    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
      Related
      ENSP00000503163.1, ENST00000677123.1
      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
      Conserved Domains (3) summary
      COG1196
      Location:117214
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      pfam12999
      Location:21163
      PRKCSH-like; Glucosidase II beta subunit-like
      cl06793
      Location:376507
      PRKCSH; Glucosidase II beta subunit-like protein
    6. NM_001379609.1NP_001366538.1  glucosidase 2 subunit beta idoform 2 precursor

      Status: REVIEWED

      Source sequence(s)
      AC008481
      Conserved Domains (4) summary
      COG1196
      Location:117214
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      COG3170
      Location:166382
      FimV; Tfp pilus assembly protein FimV [Cell motility, Extracellular structures]
      pfam12999
      Location:21163
      PRKCSH-like; Glucosidase II beta subunit-like
      cl06793
      Location:373504
      PRKCSH; Glucosidase II beta subunit-like protein
    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 (3) summary
      COG1196
      Location:117214
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      pfam12999
      Location:21163
      PRKCSH-like; Glucosidase II beta subunit-like
      cl06793
      Location:376507
      PRKCSH; Glucosidase II beta subunit-like protein

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

    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
      Conserved Domains (4) summary
      COG1196
      Location:117214
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      COG3170
      Location:166382
      FimV; Tfp pilus assembly protein FimV [Cell motility, Extracellular structures]
      pfam12999
      Location:21163
      PRKCSH-like; Glucosidase II beta subunit-like
      cl06793
      Location:373504
      PRKCSH; Glucosidase II beta subunit-like protein
    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 (3) summary
      COG1196
      Location:117214
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      pfam12999
      Location:21163
      PRKCSH-like; Glucosidase II beta subunit-like
      cl06793
      Location:376507
      PRKCSH; Glucosidase II beta subunit-like protein
    Support Center