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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
  • Gene Overview
    MyGene.info: PCSK5
  • Alliance
Location & Maps
more
  • Sequence Map
    Chr19:17432832-17837632 bp, - strand
  • From Ensembl annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      404801 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 19, 12.86 cM
  • Mapping Data
    5 experiments
Homology
more
  • Human Ortholog
    PCSK5, proprotein convertase subtilisin/kexin type 5
  • Vertebrate Orthologs
    9
  • Human Ortholog
    PCSK5, proprotein convertase subtilisin/kexin type 5
    Orthology source: HomoloGene, HGNC
  • Synonyms
    PC5, PC6, PC6A, SPC6
  • Links
    NCBI Gene ID: 5125
    neXtProt AC: NX_Q92824
    UniProt: Q92824

  • Chr Location
    9q21.13; chr9:75890601-76362339 (+)  GRCh38.p7

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
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  • Phenotype Summary
    74 phenotypes from 7 alleles in 9 genetic backgrounds
    25 images
    18 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
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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 ENSMUSG00000024713 Ensembl Gene Model | MGI Sequence Detail 404801 C57BL/6J ±  kb
    transcript ENSMUST00000025618 Ensembl | MGI Sequence Detail 6675 Not Applicable  
    polypeptide ENSMUSP00000025618 Ensembl | MGI Sequence Detail 1877 Not Applicable  
    For the selected sequence
    Polymorphisms
    less
    • SNPs within 2kb
      5843 from dbSNP Build 142
    • RFLP
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 41
      cDNA 37
      Primer pair 4

      Microarray probesets 7
    Other
    Accession IDs
    less
    MGD-MRK-13195, MGI:5313703, MGI:5430337
    References
    more
    • Summaries
      All 71
      Developmental Gene Expression 18
      Diseases 2
      Gene Ontology 14
      Phenotypes 18
    • 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:256979 Hoac B, et al., Osteopontin as a novel substrate for the proprotein convertase 5/6 (PCSK5) in bone. Bone. 2018 Feb;107(None):45-55

    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
    05/15/2018
    MGI 6.12
    The Jackson Laboratory