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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
  • Alliance
    gene page
  • Transcription Start Sites
    2 TSS
Location &
Maps
more
  • Sequence Map
    Chr4:106299531-106321522 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • 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 Chr4:106299526-106321526 (-)
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
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    PCSK9, proprotein convertase subtilisin/kexin type 9
  • Synonyms
    FH3, FHCL3, HCHOLA3, LDLCQ1, NARC1, NARC-1, PC9
  • Links
    NCBI Gene ID: 255738
    neXtProt AC: NX_Q8NBP7
    UniProt: Q8NBP7

  • Chr Location
    1p32.3; chr1:55039447-55064852 (+)  GRCh38
Human Diseases
more
  • Diseases
    2 with human PCSK9 associations

Human Disease Mouse Models
      
IDs
IDs
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    14 phenotypes from 7 alleles in 6 genetic backgrounds
    1 phenotype from multigenic genotypes
    68 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 null mice exhibit increased clearance of circulating cholesterol and decreased plasma cholesterol levels.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    94
  • GO References
    18
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
non-membrane-bounded 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
    1024
  • Tissues
    144
  • cDNA Data
    19
  • Literature Summary
    12
  • Comparison Matrix
    Gene Expression + Phenotype
    • 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
    • UniProt
      1 Sequence
    • Protein Ontology
      PR:000012440 proprotein convertase subtilisin/kexin type 9
      (term hierarchy)
    • EC
      3.4.21.-
    • InterPro Domains
      IPR010259 Peptidase S8 propeptide/proteinase inhibitor I9
      IPR037045 Peptidase S8 propeptide/proteinase inhibitor I9 superfamily
      IPR000209 Peptidase S8/S53 domain
      IPR036852 Peptidase S8/S53 domain superfamily
      IPR015500 Peptidase S8, subtilisin-related
      IPR041254 Proprotein convertase subtilisin/kexin type 9, C-terminal domain 1
      IPR041052 Proprotein convertase subtilisin/kexin type 9, C-terminal domain 2
      IPR041051 Proprotein convertase subtilisin/kexin type 9, C-terminal domain 3
      IPR034193 Proteinase K-like catalytic domain
    Molecular
    Reagents
    less
    • All nucleic 19
      cDNA 19

      Microarray probesets 2
    Other
    Accession IDs
    less
    MGI:2140355
    References
    more
    • Summaries
      All 149
      Developmental Gene Expression 12
      Gene Ontology 18
      Phenotypes 68
    • 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:342661 Roychowdhury T, et al., Genome-wide association meta-analysis identifies risk loci for abdominal aortic aneurysm and highlights PCSK9 as a therapeutic target. Nat Genet. 2023 Nov;55(11):1831-1842
    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
    04/16/2024
    MGI 6.23     		The Jackson Laboratory