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Prkcsh Gene Detail
Summary
  • Symbol
    Prkcsh
  • Name
    protein kinase C substrate 80K-H
  • Synonyms
    80K-H, hepatocystin
  • Feature Type
    protein coding gene
  • IDs
    MGI:107877
    NCBI Gene: 19089
  • Gene Overview
    MyGene.info: PRKCSH
  • Alliance
Location & Maps
more
  • Sequence Map
    Chr9:22002988-22014245 bp, + strand
  • From NCBI annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      11258 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 9, 8.04 cM
  • Mapping Data
    2 experiments
Homology
more
  • Human Ortholog
    PRKCSH, protein kinase C substrate 80K-H
  • Vertebrate Orthologs
    8
  • Human Ortholog
    PRKCSH, protein kinase C substrate 80K-H
    Orthology source: HomoloGene, HGNC
  • Synonyms
    AGE-R2, G19P1, GIIB, PCLD, PCLD1, PKCSH, PLD1, VASAP-60
  • Links
    NCBI Gene ID: 5589
    neXtProt AC: NX_P14314
    UniProt: P14314

  • Chr Location
    19p13.2; chr19:11435257-11450968 (+)  GRCh38.p7

Human Diseases
more
  • Diseases
    1 with Prkcsh mouse models; 1 with human PRKCSH associations

Human Disease Mouse Models
      
IDs
View 1 model
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    6 phenotypes from 2 alleles in 3 genetic backgrounds
    9 phenotypes from multigenic genotypes
    10 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
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.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
  • Comparison Matrix
  • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 19089 NCBI Gene Model | MGI Sequence Detail 11258 C57BL/6J ±  kb
    transcript NM_001293650 RefSeq | MGI Sequence Detail 2086 C57BL/6  
    polypeptide O08795 UniProt | EBI | MGI Sequence Detail 521 Not Applicable  
    For the selected sequence
    Polymorphisms
    less
    • SNPs within 2kb
      37 from dbSNP Build 142
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 217
      cDNA 215
      Primer pair 1
      Other 1

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGD-MRK-36454
    References
    more
    • Summaries
      All 45
      Developmental Gene Expression 3
      Diseases 1
      Gene Ontology 8
      Phenotypes 10
    • 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:261844 Caputo AT, et al., Structures of mammalian ER alpha-glucosidase II capture the binding modes of broad-spectrum iminosugar antivirals. Proc Natl Acad Sci U S A. 2016 Aug 9;113(32):E4630-8

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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    last database update
    06/12/2018
    MGI 6.12
    The Jackson Laboratory