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

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 1. Orthologous to human PRKCSH (PRKCSH beta subunit of glucosidase II). [provided by Alliance of Genome Resources, Nov 2024]
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

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_000075.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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)

Endonuclease-mediated (1)
Targeted (4) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

NoName (e-PCR)
- UniSTS:236063

RH128469 (e-PCR)
- UniSTS:211777

Prkcsh (e-PCR), detects polymorphism
- UniSTS:144261

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 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	IEA Inferred from Electronic Annotation 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
involved_in N-glycan processing	ISS Inferred from Sequence or Structural Similarity 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 cycle 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
part_of glucosidase II complex	ISS Inferred from Sequence or Structural Similarity more info
located_in intracellular membrane-bounded organelle	ISO Inferred from Sequence Orthology more info
located_in intracellular membrane-bounded organelle	ISS Inferred from Sequence or Structural Similarity 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

EC 2.7.11.1

NP_001280580.1

EC 2.7.11.1

NP_001407055.1

EC 2.7.11.1

NP_032951.1

EC 2.7.11.1

XP_006510159.1

EC 2.7.11.1

XP_036010596.1

EC 2.7.11.1

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)

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

Status: VALIDATED

Source sequence(s)

AC163623
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

NC_000075.7 Reference GRCm39 C57BL/6J

Range

21914314..21925521

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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
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