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

Gene ID: 19089, updated on 6-Jun-2024

Summary

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
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Genomic context

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

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Variation

Alleles

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

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 metabolic process 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 
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

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_001293650.2NP_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:117222
    COG4372; Uncharacterized conserved protein, contains DUF3084 domain [Function unknown]
    pfam12999
    Location:21163
    PRKCSH-like; Glucosidase II beta subunit-like
    cl06793
    Location:380508
    PRKCSH; Glucosidase II beta subunit-like protein
  2. NM_001293651.2NP_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:117222
    COG4372; Uncharacterized conserved protein, contains DUF3084 domain [Function unknown]
    pfam12999
    Location:21163
    PRKCSH-like; Glucosidase II beta subunit-like
    cl06793
    Location:373501
    PRKCSH; Glucosidase II beta subunit-like protein
  3. NM_001420126.1NP_001407055.1  glucosidase 2 subunit beta isoform 1 precursor

    Status: VALIDATED

    Source sequence(s)
    AC163623
    UniProtKB/TrEMBL
    Q3TWG2
  4. NM_008925.3NP_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:117222
    COG4372; Uncharacterized conserved protein, contains DUF3084 domain [Function unknown]
    pfam12999
    Location:21163
    PRKCSH-like; Glucosidase II beta subunit-like
    cl06793
    Location:373501
    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_006510096.3XP_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:117222
    COG4372; Uncharacterized conserved protein, contains DUF3084 domain [Function unknown]
    pfam12999
    Location:21163
    PRKCSH-like; Glucosidase II beta subunit-like
    cl06793
    Location:380508
    PRKCSH; Glucosidase II beta subunit-like protein
  2. XM_036154703.1XP_036010596.1  glucosidase 2 subunit beta isoform X2

    UniProtKB/Swiss-Prot
    O08795, Q921X2
    UniProtKB/TrEMBL
    Q3TWG2, Q3U518
    Conserved Domains (3) summary
    COG4372
    Location:117222
    COG4372; Uncharacterized conserved protein, contains DUF3084 domain [Function unknown]
    pfam12999
    Location:21163
    PRKCSH-like; Glucosidase II beta subunit-like
    cl06793
    Location:373501
    PRKCSH; Glucosidase II beta subunit-like protein