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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
Location & Maps
more
  • Sequence Map
    Chr19:17432832-17837632 bp, - strand
  • From NCBI annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      404801 bp   ±  kb flank

  • Genome Browsers
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
  • Synonyms
    PC5, PC6, PC6A, SPC6
  • Links
    NCBI Gene ID: 5125
    neXtProt AC: NX_Q92824

  • Chr Location
    9q21.3; chr9:75890601-76362339 (+)  GRCh38.p2

Human Diseases
more
  • Diseases
    1 with Pcsk5 mouse models

Human Disease Mouse Models
       Vater/Vacterl Association   OMIM: 192350 View 2 models
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    2 with disease annotations
  • References
    2 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    70 phenotypes from 7 alleles in 9 genetic backgrounds
    25 images
    13 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryogenesis
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
tumorigenesis
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    11
  • Chemically induced (ENU)
    3
  • Gene trapped
    1
  • Targeted
    7
  • Incidental Mutations
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
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
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic 18552 NCBI Gene Model | MGI Sequence Detail 404801 C57BL/6J ±  kb
transcript NM_001190483 RefSeq | MGI Sequence Detail 7193 C57BL/6  
polypeptide Q04592 UniProt | EBI | MGI Sequence Detail 1877 Not Applicable  
For the selected sequence
Polymorphisms
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  • 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
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MGD-MRK-13195, MGI:5313703, MGI:5430337
References
more
  • Summaries
    All 59
    Developmental Gene Expression 15
    Diseases 2
    Gene Ontology 12
    Phenotypes 13
  • 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:222159 Li Y, et al., Global genetic analysis in mice unveils central role for cilia in congenital heart disease. Nature. 2015 May 28;521(7553):520-4

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
04/26/2016
MGI 6.03
The Jackson Laboratory