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Pcsk6 Gene Detail
Summary
  • Symbol
    Pcsk6
  • Name
    proprotein convertase subtilisin/kexin type 6
  • Synonyms
    b2b2830Clo, PACE4, SPC4
  • Feature Type
    protein coding gene
  • IDs
    MGI:102897
    NCBI Gene: 18553
  • Gene Overview
    MyGene.info: PCSK6
  • Alliance
  • Transcription Start Sites
    3 TSS
Location &
Maps
more
  • Sequence Map
    Chr7:65862136-66050386 bp, + strand
  • From NCBI annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 7, 35.36 cM
  • Mapping Data
    6 experiments
Strain
Comparison
more
  • SNPs within 2kb
    2485 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_102897
protein coding gene Chr7:65861734-66050386 (.)
129S1/SvImJ MGP_129S1SvImJ_G0032345
protein coding gene Chr7:67061912-67267063 (+)
A/J MGP_AJ_G0032324
protein coding gene Chr7:65702530-65892353 (+)
AKR/J MGP_AKRJ_G0032260
protein coding gene Chr7:67102192-67293604 (+)
BALB/cJ MGP_BALBcJ_G0032336
protein coding gene Chr7:65434280-65623630 (+)
C3H/HeJ MGP_C3HHeJ_G0032049
protein coding gene Chr7:67757488-67956497 (+)
C57BL/6NJ MGP_C57BL6NJ_G0032829
protein coding gene Chr7:69971470-70169706 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0029836
protein coding gene Chr7:68604525-68792769 (+)
CAST/EiJ MGP_CASTEiJ_G0031378
protein coding gene Chr7:58429872-58630654 (+)
CBA/J MGP_CBAJ_G0032015
protein coding gene Chr7:72147331-72347906 (+)
DBA/2J MGP_DBA2J_G0032171
protein coding gene Chr7:64417706-64607789 (+)
FVB/NJ MGP_FVBNJ_G0032125
protein coding gene Chr7:64549987-64740539 (+)
LP/J MGP_LPJ_G0032251
protein coding gene Chr7:68296815-68485148 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0032162
protein coding gene Chr7:72406698-72603789 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0032846
protein coding gene Chr7:66451654-66642490 (+)
PWK/PhJ MGP_PWKPhJ_G0031098
protein coding gene Chr7:57449570-57642251 (+)
SPRET/EiJ MGP_SPRETEiJ_G0030939
protein coding gene Chr7:53499592-53695203 (+)
WSB/EiJ MGP_WSBEiJ_G0031496
protein coding gene Chr7:66769221-66972984 (+)



Homology
more
  • Human Ortholog
    PCSK6, proprotein convertase subtilisin/kexin type 6
  • Vertebrate Orthologs
    9
  • Human Ortholog
    PCSK6, proprotein convertase subtilisin/kexin type 6
    Orthology source: HGNC, HomoloGene
  • Synonyms
    PACE4, SPC4
  • Links
    NCBI Gene ID: 5046
    neXtProt AC: NX_P29122
    UniProt: P29122

  • Chr Location
    15q26.3; chr15:101303928-101489984 (-)  GRCh38.p7

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    27 phenotypes from 1 allele in 1 genetic background
    12 phenotypes from multigenic genotypes
    13 images
    24 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
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
vision/eye

Click cells to view annotations.
Homozygous mutation of this gene results in partial lethality by E15.5. Embryos develop situs ambiguus with left pulmonary isomerism or craniofacial malformations including cyclopia, or both.
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
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell death
cell differentiation
cell population proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
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 18553 NCBI Gene Model | MGI Sequence Detail 188251 C57BL/6J ±  kb
    transcript NM_011048 RefSeq | MGI Sequence Detail 4298 C57BL/6  
    polypeptide NP_035178 RefSeq | MGI Sequence Detail 959 C57BL/6  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 62
      Genomic 1
      cDNA 58
      Primer pair 3

      Microarray probesets 4
    Other
    Accession IDs
    less
    MGD-MRK-23731, MGI:2142365, MGI:5618288
    References
    more
    • Summaries
      All 86
      Developmental Gene Expression 30
      Gene Ontology 4
      Phenotypes 24
    • Earliest
      J:88307 Giometti CS, et al., The analysis of recessive lethal mutations in mice by using two-dimensional gel electrophoresis of liver proteins. Mutat Res. 1990 Sep;242(1):47-55
    • Latest
      J:262482 Dubos A, et al., A new mouse model of ARX dup24 recapitulates the patients' behavioral and fine motor alterations. Hum Mol Genet. 2018 Jun 15;27(12):2138-2153

    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
    12/04/2018
    MGI 6.13
    The Jackson Laboratory