About   Help   FAQ
Pcsk9 Gene Detail
Summary
  • Symbol
    Pcsk9
  • Name
    proprotein convertase subtilisin/kexin type 9
  • Synonyms
    Narc1
  • Feature Type
    protein coding gene
  • IDs
    MGI:2140260
    NCBI Gene: 100102
  • Gene Overview
    MyGene.info: PCSK9
  • Alliance
  • Transcription Start Sites
    2 TSS
Location &
Maps
more
  • Sequence Map
    Chr4:106442334-106464325 bp, - strand
  • From NCBI annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 4, 49.67 cM
  • Mapping Data
    1 experiment
Strain
Comparison
more
  • SNPs within 2kb
    201 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_2140260
protein coding gene Chr4:106442329-106464329 (-)
129S1/SvImJ MGP_129S1SvImJ_G0028518
protein coding gene Chr4:107054127-107079953 (-)
A/J MGP_AJ_G0028481
protein coding gene Chr4:103246059-103268394 (-)
AKR/J MGP_AKRJ_G0028428
protein coding gene Chr4:105749451-105776060 (-)
BALB/cJ MGP_BALBcJ_G0028500
protein coding gene Chr4:103432559-103454816 (-)
C3H/HeJ MGP_C3HHeJ_G0028214
protein coding gene Chr4:106501348-106526376 (-)
C57BL/6NJ MGP_C57BL6NJ_G0028940
protein coding gene Chr4:110936675-110958284 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0026231
protein coding gene Chr4:98512063-98533500 (-)
CAST/EiJ MGP_CASTEiJ_G0027650
protein coding gene Chr4:104286470-104320605 (-)
CBA/J MGP_CBAJ_G0028183
protein coding gene Chr4:114507250-114535105 (-)
DBA/2J MGP_DBA2J_G0028331
protein coding gene Chr4:102862319-102884619 (-)
FVB/NJ MGP_FVBNJ_G0028299
protein coding gene Chr4:101717993-101739679 (-)
LP/J MGP_LPJ_G0028432
protein coding gene Chr4:107259440-107284241 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0028325
protein coding gene Chr4:119850075-119873611 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0028976
protein coding gene Chr4:105998067-106020218 (-)
PWK/PhJ MGP_PWKPhJ_G0027376
protein coding gene Chr4:101085725-101108257 (-)
SPRET/EiJ MGP_SPRETEiJ_G0027200
protein coding gene Chr4:103382375-103404734 (-)
WSB/EiJ MGP_WSBEiJ_G0027731
protein coding gene Chr4:106173807-106196055 (-)



Homology
more
  • Human Ortholog
    PCSK9, proprotein convertase subtilisin/kexin type 9
  • Vertebrate Orthologs
    8
  • Human Ortholog
    PCSK9, proprotein convertase subtilisin/kexin type 9
    Orthology source: HGNC, HomoloGene
  • Synonyms
    FH3, HCHOLA3, LDLCQ1, NARC1, NARC-1, PC9
  • Links
    NCBI Gene ID: 255738
    neXtProt AC: NX_Q8NBP7
    UniProt: Q8NBP7

  • Chr Location
    1p32.3; chr1:55039476-55064853 (+)  GRCh38.p7

Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    11 phenotypes from 6 alleles in 5 genetic backgrounds
    1 phenotype from multigenic genotypes
    34 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 null mice exhibit increased clearance of circulating cholesterol and decreased plasma cholesterol levels.
Gene Ontology
(GO)
Classifications
less
  • 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
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
  • Tissues
  • cDNA Data
  • Literature Summary
  • Comparison Matrix
  • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 100102 NCBI Gene Model | MGI Sequence Detail 21992 C57BL/6J ±  kb
    transcript NM_153565 RefSeq | MGI Sequence Detail 3512 C57BL/6  
    polypeptide Q80W65 UniProt | EBI | MGI Sequence Detail 694 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 19
      cDNA 19

      Microarray probesets 2
    Other
    Accession IDs
    less
    MGI:2140355
    References
    more
    • Summaries
      All 99
      Developmental Gene Expression 11
      Gene Ontology 16
      Phenotypes 34
    • Earliest
      J:81825 Seidah NG, et al., The secretory proprotein convertase neural apoptosis-regulated convertase 1 (NARC-1): liver regeneration and neuronal differentiation. Proc Natl Acad Sci U S A. 2003 Feb 4;100(3):928-33
    • Latest
      J:264012 Lebeau P, et al., Loss-of-function PCSK9 mutants evade the unfolded protein response sensor GRP78 and fail to induce endoplasmic reticulum stress when retained. J Biol Chem. 2018 May 11;293(19):7329-7343

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
    Citing These Resources
    Funding Information
    Warranty Disclaimer & Copyright Notice
    Send questions and comments to User Support.
    last database update
    12/04/2018
    MGI 6.13
    The Jackson Laboratory