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Prkcsh
Gene Detail
 Symbol
Name
ID
Prkcsh
protein kinase C substrate 80K-H
MGI:107877
Synonyms 80K-H
Feature Type protein coding gene
Genetic Map
Chromosome 9
8.04 cM
Detailed Genetic Map ± 1 cM


Mapping data(2)
Sequence Map
Chr9:22003035-22014219 bp, + strand
From Ensembl annotation of GRCm38

  11185 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:2056  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 dog; 1 zebrafish

Gene Tree: Prkcsh

Human
homologs
Human Homolog PRKCSH, protein kinase C substrate 80K-H
NCBI Gene ID 5589
neXtProt AC  NX_P14314
Human Synonyms  AGE-R2, G19P1, PCLD, PKCSH, PLD1
Human Chr (Location)  19p13.2; chr19:11435257-11450968 (+)  GRCh38
Disease Associations  (1) Diseases Associated with Human PRKCSH
Mutations,
alleles, and
phenotypes
All mutations/alleles(20) : Gene trapped(15) Targeted(5)
Incidental mutations (data from Mutagenetix , APF )
 
Mice homozygous for a knock-out allele exhibit embryonic lethality during organogenesis. Mice homozygous for a conditional allele activated in the kidneys or ubiquitously develop polycystic kidney and liver phenotypes, respectively.
 
Human Diseases Modeled Using Mouse Prkcsh (1)    Alleles Annotated to Human Diseases(1)   
Interactions
Prkcsh interacts with 68 markers (Mir23a, Mir23b, Mir26a-1, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (21 annotations)
Process in utero embryonic development, liver development, ...
Component endoplasmic reticulum, glucosidase II complex
Function calcium ion binding, ion channel binding, ...
External Resources: FuncBase
Expression
Literature Summary: (3 records)
Data Summary: Results (2)    Tissues (2)   
Theiler Stages: 21
Assay TypeResults
RNA in situ 2
cDNA source data(214)
External Resources: Allen Institute   GEO   Expression Atlas
Molecular
reagents
All nucleic(217) cDNA(215) Primer pair(1) Other(1)
Microarray probesets(3)
Other database
links
Ensembl Gene ModelENSMUSG00000003402 (Evidence)
Entrez Gene19089 (Evidence)
UniGene214593
DFCITC1572389, TC1589180, TC1658142
DoTSDT.40142992, DT.50316064, DT.94288423, DT.97415366
NIA Mouse Gene IndexU010158
Consensus CDS ProjectCCDS22918.1
International Mouse Knockout Project StatusPrkcsh
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic ENSMUSG00000003402 Ensembl Gene Model | MGI Sequence Detail 11185 C57BL/6J ±  kb
transcript ENSMUST00000115331 Ensembl | MGI Sequence Detail 2013 Not Applicable 
polypeptide ENSMUSP00000110987 Ensembl | MGI Sequence Detail 528 Not Applicable 

For the selected sequences
All sequences(45) RefSeq(10) UniProt(3)
Polymorphisms SNPs within 2kb(37 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR018247 EF-Hand 1, calcium-binding site
InterPro IPR002048 EF-hand domain
InterPro IPR011992 EF-hand-like domain
InterPro IPR026874 Glucosidase 2 subunit beta
InterPro IPR012913 Glucosidase II beta subunit-like
InterPro IPR002172 Low-density lipoprotein (LDL) receptor class A repeat
InterPro IPR009011 Mannose-6-phosphate receptor binding domain
Protein Ontology PR:000013234 glucosidase 2 subunit beta
References (Earliest) J:40482 Arendt CW, et al., Identification of the CD45-associated 116-kDa and 80-kDa proteins as the alpha- and beta-subunits of alpha-glucosidase II. J Biol Chem. 1997 May 16;272(20):13117-25
(Latest) J:185071 Yaguchi H, et al., TRIM67 protein negatively regulates Ras activity through degradation of 80K-H and induces neuritogenesis. J Biol Chem. 2012 Apr 6;287(15):12050-9
All references(46)
Disease annotation references (1)
Other
accession IDs
MGD-MRK-36454

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
08/12/2014
MGI 5.19
The Jackson Laboratory