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Pcsk9
Gene Detail
 Symbol
Name
ID
Pcsk9
proprotein convertase subtilisin/kexin type 9
MGI:2140260
Synonyms Narc1
Feature Type protein coding gene
Genetic Map
Chromosome 4
49.67 cM
Detailed Genetic Map ± 1 cM


Mapping data(1)
Sequence Map
Chr4:106442329-106464329 bp, - strand
From VEGA annotation of GRCm38

  22001 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:17790  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 chicken; 1 western clawed frog; 1 zebrafish

Protein SuperFamily: proprotein convertase, subtilisin/kexin type 9
Gene Tree: Pcsk9

Human
homologs
Human Homolog PCSK9, proprotein convertase subtilisin/kexin type 9
NCBI Gene ID 255738
neXtProt AC  NX_Q8NBP7
Human Synonyms  FH3, HCHOLA3, LDLCQ1, NARC1, NARC-1, PC9
Human Chr (Location)  1p32.3; chr1:55039476-55064853 (+)  GRCh38
Disease Associations  (1) Diseases Associated with Human PCSK9
Mutations,
alleles, and
phenotypes
All mutations/alleles(6) : Chemically induced (ENU)(1) Targeted(5)
Incidental mutations (data from Mutagenetix , APF )
 
Homozygous null mice exhibit increased clearance of circulating cholesterol and decreased plasma cholesterol levels.
 
Interactions
Pcsk9 interacts with 152 markers (Mir1b, Mir7-1, Mir7-2, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (69 annotations)
Process apoptotic process, cellular response to insulin stimulus, ...
Component cell surface, cytoplasm, ...
Function apolipoprotein binding, apolipoprotein receptor binding, ...
This is a GO Consortium Reference Genome Project gene.
External Resources: FuncBase
Expression
Literature Summary: (9 records)
Data Summary: Results (318)    Tissues (140)    Images (63)
Theiler Stages: 14, 17, 20, 23, 25, 26, 28
Assay TypeResults
RNA in situ 318
cDNA source data(18)
External Resources: Allen Institute   GENSAT   GEO   Expression Atlas
Molecular
reagents
All nucleic(18) cDNA(18)
Microarray probesets(2)
Other database
links
VEGA Gene ModelOTTMUSG00000008197 (Evidence)
Ensembl Gene ModelENSMUSG00000044254 (Evidence)
Entrez Gene100102 (Evidence)
UniGene133268
DFCITC1583137
DoTSDT.99853987
NIA Mouse Gene IndexU025326
EC3.4.21.-
Consensus CDS ProjectCCDS18418.1
International Mouse Knockout Project StatusPcsk9
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000008197 VEGA Gene Model | MGI Sequence Detail 22001 C57BL/6J ±  kb
transcript OTTMUST00000018618 VEGA | MGI Sequence Detail 3521 Not Applicable 
polypeptide OTTMUSP00000008554 VEGA | MGI Sequence Detail 694 Not Applicable 

For the selected sequences
All sequences(21) RefSeq(2) UniProt(1)
Polymorphisms SNPs within 2kb(201 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR000209 Peptidase S8/S53 domain
InterPro IPR015500 Peptidase S8, subtilisin-related
InterPro IPR010259 Proteinase inhibitor I9
InterPro IPR009020 Proteinase inhibitor, propeptide
Protein Ontology PR:000012440 proprotein convertase subtilisin/kexin type 9
References (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:210649 Gustafsen C, et al., The hypercholesterolemia-risk gene SORT1 facilitates PCSK9 secretion. Cell Metab. 2014 Feb 4;19(2):310-8
All references(62)
Other
accession IDs
MGI:2140355

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
08/19/2014
MGI 5.19
The Jackson Laboratory