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    Prkcsh protein kinase C substrate 80K-H [ Mus musculus (house mouse) ]

    Gene ID: 19089, updated on 3-Apr-2024

    Summary

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    Official Symbol
    Prkcshprovided by MGI
    Official Full Name
    protein kinase C substrate 80K-Hprovided by MGI
    Primary source
    MGI:MGI:107877
    See related
    Ensembl:ENSMUSG00000003402 AllianceGenome:MGI:107877
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    80K-H; PKCSH
    Summary
    Enables RNA binding activity and calcium ion binding activity. Acts upstream of or within several processes, including in utero embryonic development; liver development; and negative regulation of neuron projection development. Part of glucosidase II complex. Is expressed in several structures, including brain; cardiovascular system; genitourinary system; gut; and hemolymphoid system gland. Used to study polycystic liver disease. Human ortholog(s) of this gene implicated in liver disease and polycystic liver disease. Orthologous to human PRKCSH (protein kinase C substrate 80K-H). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in adrenal adult (RPKM 75.3), duodenum adult (RPKM 65.8) and 28 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Prkcsh in Genome Data Viewer
    Location:
    9 A3; 9 8.04 cM
    Exon count:
    19
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 9 NC_000075.7 (21914314..21925521)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 9 NC_000075.6 (22002988..22014245)

    Chromosome 9 - NC_000075.7Genomic Context describing neighboring genes Neighboring gene ral guanine nucleotide dissociation stimulator-like 3 Neighboring gene predicted gene, 36414 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 predicted gene, 16845

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

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    Related articles in PubMed

    1. Hepatocystin contributes to interferon-mediated antiviral response to hepatitis B virus by regulating hepatocyte nuclear factor 4α. Shin GC, et al. Biochim Biophys Acta, 2014 Sep. PMID 24769044
    2. 80K-H as a new Ca2+ sensor regulating the activity of the epithelial Ca2+ channel transient receptor potential cation channel V5 (TRPV5). Gkika D, et al. J Biol Chem, 2004 Jun 18. PMID 15100231
    3. Alternative splicing of transcripts encoding the alpha- and beta-subunits of mouse glucosidase II in T lymphocytes. Arendt CW, et al. Glycobiology, 1999 Mar. PMID 10024665
    4. A cis-acting region in the N-methyl-d-aspartate R1 3'-untranslated region interacts with the novel RNA-binding proteins beta subunit of alpha glucosidase II and annexin A2--effect of chronic ethanol exposure in vivo. Anji A, et al. Eur J Neurosci, 2011 Oct. PMID 21995826, Free PMC Article
    5. A novel RNA binding protein that interacts with NMDA R1 mRNA: regulation by ethanol. Anji A, et al. Eur J Neurosci, 2006 May. PMID 16706842

    See all (42) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. TRIM67 regulates Ras signaling via degradation of 80K-H, leading to neural differentiation including neuritogenesis.
      Title: TRIM67 protein negatively regulates Ras activity through degradation of 80K-H and induces neuritogenesis.
    2. Data demonstrate the presence of a binding site on the 3'-untranslated region of NR1 mRNA for AnxA2 and show the regulation of NR1 mRNA by AnxA2, GIIbeta and a third NR1 mRNA-binding protein, which is yet to be identified.
      Title: A cis-acting region in the N-methyl-d-aspartate R1 3'-untranslated region interacts with the novel RNA-binding proteins beta subunit of alpha glucosidase II and annexin A2--effect of chronic ethanol exposure in vivo.
    3. 80K-H is a novel regulator of IP3R1 activity, and it may contribute to neuronal functions.
      Title: 80K-H interacts with inositol 1,4,5-trisphosphate (IP3) receptors and regulates IP3-induced calcium release activity.
    4. 80K-H is a Ca(2+) sensor controlling TRPV5 channel activity
      Title: 80K-H as a new Ca2+ sensor regulating the activity of the epithelial Ca2+ channel transient receptor potential cation channel V5 (TRPV5).
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Targeted (4)  1 citation
    • Endonuclease-mediated (1) 

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables RNA binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables calcium ion binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables phosphoprotein binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein kinase C binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables protein-containing complex binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables transmembrane transporter binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    Process Evidence Code Pubs
    involved_in N-glycan processing IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in N-glycan processing ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within N-glycan processing TAS
    Traceable Author Statement
    more info
    		 PubMed 
    acts_upstream_of_or_within in utero embryonic development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in liver development IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within liver development IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    acts_upstream_of_or_within negative regulation of neuron projection development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within nitrogen compound metabolic process IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in endoplasmic reticulum ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in endoplasmic reticulum TAS
    Traceable Author Statement
    more info
    		 PubMed 
    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 
    part_of glucosidase II complex ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in intracellular membrane-bounded organelle ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    Preferred Names
    glucosidase 2 subunit beta
    Names
    alpha glucosidase II, beta-subunit
    carbohydrate processing enzyme of the endoplasmic reticulum
    glucosidase II beta-subunit
    hepatocystin
    protein kinase C substrate 60.1 kDa protein heavy chain
    NP_001280579.1
    NP_001280580.1
    NP_001407055.1
    NP_032951.1
    XP_006510159.1
    XP_036010596.1

    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.

    mRNA and Protein(s)

    1. NM_001293650.2 → NP_001280579.1  glucosidase 2 subunit beta isoform 1 precursor

      See identical proteins and their annotated locations for NP_001280579.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (1).
      Source sequence(s)
      AC163623
      Consensus CDS
      CCDS80967.1
      UniProtKB/TrEMBL
      Q3TWG2
      Related
      ENSMUSP00000110987.3, ENSMUST00000115331.10
      Conserved Domains (3) summary
      COG4372
      Location:117 → 222
      COG4372; Uncharacterized conserved protein, contains DUF3084 domain [Function unknown]
      pfam12999
      Location:21 → 163
      PRKCSH-like; Glucosidase II beta subunit-like
      cl06793
      Location:380 → 508
      PRKCSH; Glucosidase II beta subunit-like protein

    2. NM_001293651.2 → NP_001280580.1  glucosidase 2 subunit beta isoform 2 precursor

      See identical proteins and their annotated locations for NP_001280580.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR and uses an alternate in-frame splice site in the 3' coding region, compared to variant 1. The encoded protein (isoform 2) is shorter, compared to isoform 1. Variants 2 and 3 encode the same protein (isoform 2).
      Source sequence(s)
      AC163623
      Consensus CDS
      CCDS22918.1
      UniProtKB/Swiss-Prot
      O08795, Q921X2
      UniProtKB/TrEMBL
      Q3TWG2, Q3U518
      Related
      ENSMUSP00000149936.2, ENSMUST00000216344.2
      Conserved Domains (3) summary
      COG4372
      Location:117 → 222
      COG4372; Uncharacterized conserved protein, contains DUF3084 domain [Function unknown]
      pfam12999
      Location:21 → 163
      PRKCSH-like; Glucosidase II beta subunit-like
      cl06793
      Location:373 → 501
      PRKCSH; Glucosidase II beta subunit-like protein

    3. NM_001420126.1 → NP_001407055.1  glucosidase 2 subunit beta isoform 1 precursor

      Status: VALIDATED

      Source sequence(s)
      AC163623

    4. NM_008925.3 → NP_032951.1  glucosidase 2 subunit beta isoform 2 precursor

      See identical proteins and their annotated locations for NP_032951.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 3' coding region, compared to variant 1. The encoded protein (isoform 2) is shorter, compared to isoform 1. Variants 2 and 3 encode the same protein (isoform 2).
      Source sequence(s)
      AC163623
      Consensus CDS
      CCDS22918.1
      UniProtKB/Swiss-Prot
      O08795, Q921X2
      UniProtKB/TrEMBL
      Q3TWG2, Q3U518
      Related
      ENSMUSP00000003493.8, ENSMUST00000003493.9
      Conserved Domains (3) summary
      COG4372
      Location:117 → 222
      COG4372; Uncharacterized conserved protein, contains DUF3084 domain [Function unknown]
      pfam12999
      Location:21 → 163
      PRKCSH-like; Glucosidase II beta subunit-like
      cl06793
      Location:373 → 501
      PRKCSH; Glucosidase II beta subunit-like protein

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000075.7 Reference GRCm39 C57BL/6J

      Range
      21914314..21925521
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006510096.3 → XP_006510159.1  glucosidase 2 subunit beta isoform X1

      See identical proteins and their annotated locations for XP_006510159.1

      UniProtKB/TrEMBL
      Q3TWG2
      Conserved Domains (3) summary
      COG4372
      Location:117 → 222
      COG4372; Uncharacterized conserved protein, contains DUF3084 domain [Function unknown]
      pfam12999
      Location:21 → 163
      PRKCSH-like; Glucosidase II beta subunit-like
      cl06793
      Location:380 → 508
      PRKCSH; Glucosidase II beta subunit-like protein

    2. XM_036154703.1 → XP_036010596.1  glucosidase 2 subunit beta isoform X2

      UniProtKB/Swiss-Prot
      O08795, Q921X2
      UniProtKB/TrEMBL
      Q3TWG2, Q3U518
      Conserved Domains (3) summary
      COG4372
      Location:117 → 222
      COG4372; Uncharacterized conserved protein, contains DUF3084 domain [Function unknown]
      pfam12999
      Location:21 → 163
      PRKCSH-like; Glucosidase II beta subunit-like
      cl06793
      Location:373 → 501
      PRKCSH; Glucosidase II beta subunit-like protein
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O08795.1 GenPept UniProtKB/Swiss-Prot:O08795

    Gene LinkOut

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