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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
  • Alliance
    gene page
  • Transcription Start Sites
    7 TSS
Location &
Maps
more
  • Sequence Map
    Chr9:21914314-21925521 bp, + strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 9, 8.04 cM
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    284 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_107877
 protein coding gene Chr9:21914102-21925521 (+)
129S1/SvImJ MGP_129S1SvImJ_G0034473
 protein coding gene Chr9:19278348-19291432 (+)
A/J MGP_AJ_G0034451
 protein coding gene Chr9:18907125-18918310 (+)
AKR/J MGP_AKRJ_G0034377
 protein coding gene Chr9:19273374-19284507 (+)
BALB/cJ MGP_BALBcJ_G0034442
 protein coding gene Chr9:18789249-18800433 (+)
C3H/HeJ MGP_C3HHeJ_G0034154
 protein coding gene Chr9:19575933-19588336 (+)
C57BL/6NJ MGP_C57BL6NJ_G0034963
 protein coding gene Chr9:20036710-20049381 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0031893
 protein coding gene Chr9:18007660-18018920 (+)
CAST/EiJ MGP_CASTEiJ_G0033477
 protein coding gene Chr9:19413333-19424473 (+)
CBA/J MGP_CBAJ_G0034127
 protein coding gene Chr9:20826999-20838183 (+)
DBA/2J MGP_DBA2J_G0034285
 protein coding gene Chr9:18871132-18882505 (+)
FVB/NJ MGP_FVBNJ_G0034228
 protein coding gene Chr9:18421023-18432300 (+)
LP/J MGP_LPJ_G0034371
 protein coding gene Chr9:19431611-19442794 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0034272
 protein coding gene Chr9:22386016-22397919 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0034983
 protein coding gene Chr9:19237721-19250050 (+)
PWK/PhJ MGP_PWKPhJ_G0033182
 protein coding gene Chr9:18877664-18888885 (+)
SPRET/EiJ MGP_SPRETEiJ_G0033016
 protein coding gene Chr9:19279229-19294344 (+)
WSB/EiJ MGP_WSBEiJ_G0033592
 protein coding gene Chr9:18976001-18991695 (+)



Homology
more
  • Human Ortholog
    PRKCSH, PRKCSH beta subunit of glucosidase II
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    PRKCSH, PRKCSH beta subunit of glucosidase II
  • Synonyms
    80K-H, AGE-R2, G19P1, GIIB, GIIbeta, GluIIbeta, PCLD, PCLD1, PKCSH, PLD1, VASAP-60
  • Links
    NCBI Gene ID: 5589
    neXtProt AC: NX_P14314
    UniProt: P14314

  • Chr Location
    19p13.2; chr19:11435284-11450968 (+)  GRCh38
Human Diseases
more
  • Diseases
    1 with Prkcsh mouse models; 2 with human PRKCSH associations

Human Disease Mouse Models
      
IDs
 View 1 model
      
IDs
IDs
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
less
  • Phenotype Summary
    9 phenotypes from 3 alleles in 4 genetic backgrounds
    9 phenotypes from multigenic genotypes
    13 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
less
  • All GO Annotations
    30
  • GO References
    10
Molecular Function

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

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
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
    753
  • Tissues
    40
  • cDNA Data
    215
  • Literature Summary
    5
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 19089 NCBI Gene Model | MGI Sequence Detail 11208 C57BL/6J ±  kb
    transcript NM_001420126 RefSeq | MGI Sequence Detail 2037 ZRU/MplStud  
    polypeptide O08795 UniProt | EBI | MGI Sequence Detail 521 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 218
      cDNA 216
      Primer pair 1
      Other 1

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGD-MRK-36454
    References
    more
    • Summaries
      All 54
      Developmental Gene Expression 5
      Diseases 1
      Gene Ontology 10
      Phenotypes 13
    • 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:345621 Adams DJ, et al., Genetic determinants of micronucleus formation in vivo. Nature. 2024 Mar;627(8002):130-136
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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    11/12/2024
    MGI 6.24     		The Jackson Laboratory