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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
  • Alliance
    gene page
  • Transcription Start Sites
    5 TSS
Location &
Maps
more
  • Sequence Map
    Chr7:65511884-65700134 bp, + strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 7, 35.36 cM
  • Mapping Data
    6 experiments
Strain
Comparison
more
  • SNPs within 2kb
    5926 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_102897
 protein coding gene Chr7:65511482-65700134 (+)
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
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    PCSK6, proprotein convertase subtilisin/kexin type 6
  • Synonyms
    PACE4, SPC4
  • Links
    NCBI Gene ID: 5046
    neXtProt AC: NX_P29122
    UniProt: P29122

  • Chr Location
    15q26.3; chr15:101289784-101525202 (-)  GRCh38
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    28 phenotypes from 2 alleles in 2 genetic backgrounds
    12 phenotypes from multigenic genotypes
    13 images
    29 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.
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
less
  • All GO Annotations
    22
  • GO References
    4
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
    1053
  • Tissues
    135
  • cDNA Data
    59
  • Literature Summary
    35
  • Comparison Matrix
    Gene Expression + Phenotype
    • 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 67
      Genomic 1
      cDNA 60
      Primer pair 5
      Other 1

      Microarray probesets 4
    Other
    Accession IDs
    less
    MGD-MRK-23731, MGI:2142365, MGI:5618288
    References
    more
    • Summaries
      All 99
      Developmental Gene Expression 35
      Gene Ontology 4
      Phenotypes 29
    • 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: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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    Funding Information
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    Send questions and comments to User Support.     		last database update
    12/10/2024
    MGI 6.24     		The Jackson Laboratory