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Pcsk5 Gene Detail
Summary
  • Symbol
    Pcsk5
  • Name
    proprotein convertase subtilisin/kexin type 5
  • Synonyms
    b2b1549Clo, b2b585Clo, PC5/6A, PC5A, PC6, SPC6
  • Feature Type
    protein coding gene
  • IDs
    MGI:97515
    NCBI Gene: 18552
  • Alliance
    gene page
  • Transcription Start Sites
    4 TSS
Location &
Maps
more
  • Sequence Map
    Chr19:17409683-17814996 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 19, 12.86 cM
  • Mapping Data
    5 experiments
Strain
Comparison
more
  • SNPs within 2kb
    13351 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
    1
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_97515
 protein coding gene Chr19:17409678-17815076 (-)
129S1/SvImJ MGP_129S1SvImJ_G0024965
 protein coding gene Chr19:15260829-15696124 (-)
A/J MGP_AJ_G0024942
 protein coding gene Chr19:14369152-14780221 (-)
AKR/J MGP_AKRJ_G0024912
 protein coding gene Chr19:14945229-15374581 (-)
BALB/cJ MGP_BALBcJ_G0024941
 protein coding gene Chr19:14412981-14826220 (-)
C3H/HeJ MGP_C3HHeJ_G0024699
 protein coding gene Chr19:14887722-15312224 (-)
C57BL/6NJ MGP_C57BL6NJ_G0025383
 protein coding gene Chr19:15826215-16247302 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0022802
 protein coding gene Chr19:14795171-15209172 (-)
CAST/EiJ MGP_CASTEiJ_G0024167
 protein coding gene Chr19:14500640-14951981 (-)
CBA/J MGP_CBAJ_G0024677
 protein coding gene Chr19:16374091-16824411 (-)
DBA/2J MGP_DBA2J_G0024809
 protein coding gene Chr19:14408257-14819540 (-)
FVB/NJ MGP_FVBNJ_G0024770
 protein coding gene Chr19:14326816-14734724 (-)
LP/J MGP_LPJ_G0024893
 protein coding gene Chr19:15228820-15655610 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0024797
 protein coding gene Chr19:16261617-16710643 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0025438
 protein coding gene Chr19:14879136-15312818 (-)
PWK/PhJ MGP_PWKPhJ_G0023916
 protein coding gene Chr19:13949837-14364198 (-)
SPRET/EiJ MGP_SPRETEiJ_G0023721
 protein coding gene Chr19:14172655-14608123 (-)
WSB/EiJ MGP_WSBEiJ_G0024235
 protein coding gene Chr19:14931651-15359722 (-)



Homology
more
  • Human Ortholog
    PCSK5, proprotein convertase subtilisin/kexin type 5
  • Vertebrate Orthologs
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    PCSK5, proprotein convertase subtilisin/kexin type 5
  • Synonyms
    PC5, PC6, PC6A, SPC6
  • Links
    NCBI Gene ID: 5125
    neXtProt AC: NX_Q92824
    UniProt: Q92824

  • Chr Location
    9q21.13; chr9:75889809-76362975 (+)  GRCh38
Human Diseases
more
  • Diseases
    3 with Pcsk5 mouse models

Human Disease Mouse Models
      
IDs
 View 1 model
IDs
 View 2 models
IDs
 View 1 model
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    3 with disease annotations
  • References
    2 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    81 phenotypes from 7 alleles in 9 genetic backgrounds
    25 images
    22 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 null mutation in this gene display embryonic lethality between E4.5-E7.5. Mice homozygous for ENU-induced mutations exhibit heterotaxia with congenital heart defects and immotile respiratory cilia.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    49
  • GO References
    15
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
non-membrane-bounded 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
    890
  • Tissues
    115
  • cDNA Data
    37
  • Literature Summary
    18
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000024713 Ensembl Gene Model | MGI Sequence Detail 405314 C57BL/6J ±  kb
    transcript ENSMUST00000025618 Ensembl | MGI Sequence Detail 7188 Not Applicable  
    polypeptide ENSMUSP00000025618 Ensembl | MGI Sequence Detail 1877 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 44
      cDNA 39
      Primer pair 4
      Other 1

      Microarray probesets 7
    Other
    Accession IDs
    less
    MGD-MRK-13195, MGI:5313703, MGI:5430337
    References
    more
    • Summaries
      All 77
      Developmental Gene Expression 18
      Diseases 2
      Gene Ontology 15
      Phenotypes 22
    • Earliest
      J:13205 Lusson J, et al., cDNA structure of the mouse and rat subtilisin/kexin-like PC5: a candidate proprotein convertase expressed in endocrine and nonendocrine cells. Proc Natl Acad Sci U S A. 1993 Jul 15;90(14):6691-5
    • 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)
    Citing These Resources
    Funding Information
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    Send questions and comments to User Support.     		last database update
    10/29/2024
    MGI 6.24     		The Jackson Laboratory