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Pcsk9 proprotein convertase subtilisin/kexin type 9 [ Mus musculus (house mouse) ]

Gene ID: 100102, updated on 27-Feb-2024

Summary

Official Symbol
Pcsk9provided by MGI
Official Full Name
proprotein convertase subtilisin/kexin type 9provided by MGI
Primary source
MGI:MGI:2140260
See related
Ensembl:ENSMUSG00000044254 AllianceGenome:MGI:2140260
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
FH3; PC9; Narc1; HCHOLA3
Summary
Enables apolipoprotein binding activity; lipoprotein particle binding activity; and low-density lipoprotein particle receptor binding activity. Involved in several processes, including cellular response to insulin stimulus; cellular response to starvation; and regulation of neuron apoptotic process. Acts upstream of or within several processes, including low-density lipoprotein receptor particle metabolic process; regulation of low-density lipoprotein particle receptor catabolic process; and triglyceride metabolic process. Located in COPII-coated ER to Golgi transport vesicle; endoplasmic reticulum; and extracellular space. Is expressed in several structures, including alimentary system; cerebellum; genitourinary system; liver; and telencephalon. Human ortholog(s) of this gene implicated in familial hypercholesterolemia and hypobetalipoproteinemia. Orthologous to human PCSK9 (proprotein convertase subtilisin/kexin type 9). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Biased expression in liver E18 (RPKM 43.5), liver E14.5 (RPKM 36.7) and 7 other tissues See more
Orthologs
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Genomic context

See Pcsk9 in Genome Data Viewer
Location:
4 C7; 4 49.67 cM
Exon count:
12
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 4 NC_000070.7 (106299531..106321522, complement)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 4 NC_000070.6 (106442334..106464325, complement)

Chromosome 4 - NC_000070.7Genomic Context describing neighboring genes Neighboring gene STARR-seq mESC enhancer starr_10989 Neighboring gene predicted gene 12724 Neighboring gene STARR-seq mESC enhancer starr_10992 Neighboring gene ubiquitin specific peptidase 24 Neighboring gene predicted gene, 40218 Neighboring gene predicted gene, 30487 Neighboring gene barttin CLCNK type accessory beta subunit

Genomic regions, transcripts, and products

Expression

  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Variation

Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)

Pathways from PubChem

General gene information

Markers

Clone Names

  • MGC47409

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables apolipoprotein binding IDA
Inferred from Direct Assay
more info
PubMed 
enables apolipoprotein receptor binding ISO
Inferred from Sequence Orthology
more info
 
enables hydrolase activity IEA
Inferred from Electronic Annotation
more info
 
enables low-density lipoprotein particle binding IDA
Inferred from Direct Assay
more info
PubMed 
enables low-density lipoprotein particle receptor binding IDA
Inferred from Direct Assay
more info
PubMed 
enables low-density lipoprotein particle receptor binding ISO
Inferred from Sequence Orthology
more info
 
enables peptidase activity IEA
Inferred from Electronic Annotation
more info
 
enables protein self-association ISO
Inferred from Sequence Orthology
more info
 
enables serine-type endopeptidase activity IBA
Inferred from Biological aspect of Ancestor
more info
 
enables serine-type endopeptidase activity ISO
Inferred from Sequence Orthology
more info
 
enables serine-type endopeptidase activity ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
enables serine-type peptidase activity IEA
Inferred from Electronic Annotation
more info
 
enables signaling receptor inhibitor activity ISO
Inferred from Sequence Orthology
more info
 
enables sodium channel inhibitor activity ISO
Inferred from Sequence Orthology
more info
 
enables very-low-density lipoprotein particle binding IDA
Inferred from Direct Assay
more info
PubMed 
enables very-low-density lipoprotein particle receptor binding ISO
Inferred from Sequence Orthology
more info
 
Process Evidence Code Pubs
acts_upstream_of_or_within apoptotic process IEA
Inferred from Electronic Annotation
more info
 
involved_in cellular response to insulin stimulus IDA
Inferred from Direct Assay
more info
PubMed 
involved_in cellular response to insulin stimulus ISO
Inferred from Sequence Orthology
more info
 
involved_in cellular response to starvation IDA
Inferred from Direct Assay
more info
PubMed 
involved_in cellular response to starvation ISO
Inferred from Sequence Orthology
more info
 
involved_in cholesterol homeostasis ISO
Inferred from Sequence Orthology
more info
 
involved_in cholesterol homeostasis ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
acts_upstream_of_or_within cholesterol metabolic process IDA
Inferred from Direct Assay
more info
PubMed 
involved_in kidney development IEP
Inferred from Expression Pattern
more info
PubMed 
acts_upstream_of_or_within lipid metabolic process IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within lipoprotein metabolic process IDA
Inferred from Direct Assay
more info
PubMed 
involved_in liver development IEP
Inferred from Expression Pattern
more info
PubMed 
involved_in low-density lipoprotein particle receptor catabolic process ISO
Inferred from Sequence Orthology
more info
 
involved_in low-density lipoprotein particle receptor catabolic process ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
acts_upstream_of_or_within low-density lipoprotein receptor particle metabolic process IDA
Inferred from Direct Assay
more info
PubMed 
involved_in lysosomal transport ISO
Inferred from Sequence Orthology
more info
 
involved_in negative regulation of low-density lipoprotein particle clearance ISO
Inferred from Sequence Orthology
more info
 
involved_in negative regulation of low-density lipoprotein particle receptor binding ISO
Inferred from Sequence Orthology
more info
 
involved_in negative regulation of low-density lipoprotein receptor activity ISO
Inferred from Sequence Orthology
more info
 
involved_in negative regulation of receptor internalization ISO
Inferred from Sequence Orthology
more info
 
involved_in negative regulation of receptor recycling ISO
Inferred from Sequence Orthology
more info
 
involved_in negative regulation of receptor-mediated endocytosis involved in cholesterol transport ISO
Inferred from Sequence Orthology
more info
 
involved_in negative regulation of sodium ion transmembrane transporter activity ISO
Inferred from Sequence Orthology
more info
 
involved_in neurogenesis IEP
Inferred from Expression Pattern
more info
PubMed 
involved_in neuron differentiation IDA
Inferred from Direct Assay
more info
PubMed 
involved_in neuron differentiation IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within phospholipid metabolic process IDA
Inferred from Direct Assay
more info
PubMed 
involved_in positive regulation of low-density lipoprotein particle receptor catabolic process ISO
Inferred from Sequence Orthology
more info
 
involved_in positive regulation of neuron apoptotic process ISO
Inferred from Sequence Orthology
more info
 
involved_in positive regulation of neuron apoptotic process ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
involved_in positive regulation of receptor internalization ISO
Inferred from Sequence Orthology
more info
 
involved_in protein autoprocessing ISO
Inferred from Sequence Orthology
more info
 
involved_in protein autoprocessing ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
involved_in protein processing ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within proteolysis IEA
Inferred from Electronic Annotation
more info
 
involved_in proteolysis IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within regulation of low-density lipoprotein particle receptor catabolic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in regulation of neuron apoptotic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in regulation of signaling receptor activity ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within steroid metabolic process IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within triglyceride metabolic process IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
located_in COPII-coated ER to Golgi transport vesicle IDA
Inferred from Direct Assay
more info
PubMed 
located_in Golgi apparatus ISO
Inferred from Sequence Orthology
more info
 
part_of PCSK9-AnxA2 complex ISO
Inferred from Sequence Orthology
more info
 
part_of PCSK9-LDLR complex ISO
Inferred from Sequence Orthology
more info
 
located_in cell surface ISO
Inferred from Sequence Orthology
more info
 
located_in cytoplasm ISO
Inferred from Sequence Orthology
more info
 
located_in early endosome ISO
Inferred from Sequence Orthology
more info
 
located_in endoplasmic reticulum IDA
Inferred from Direct Assay
more info
PubMed 
located_in endoplasmic reticulum ISO
Inferred from Sequence Orthology
more info
 
located_in endoplasmic reticulum lumen TAS
Traceable Author Statement
more info
 
located_in endosome IEA
Inferred from Electronic Annotation
more info
 
located_in extracellular region IDA
Inferred from Direct Assay
more info
PubMed 
located_in extracellular space HDA PubMed 
is_active_in extracellular space IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in extracellular space IDA
Inferred from Direct Assay
more info
PubMed 
located_in extracellular space ISO
Inferred from Sequence Orthology
more info
 
located_in late endosome ISO
Inferred from Sequence Orthology
more info
 
located_in lysosome ISO
Inferred from Sequence Orthology
more info
 
located_in perinuclear region of cytoplasm ISO
Inferred from Sequence Orthology
more info
 
located_in plasma membrane ISO
Inferred from Sequence Orthology
more info
 

General protein information

Preferred Names
proprotein convertase subtilisin/kexin type 9
Names
NARC-1
convertase subtilisin
neural apoptosis regulated convertase 1
proprotein convertase 9
proprotein convertase PC9
subtilisin/kexin-like protease PC9
NP_705793.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_153565.2NP_705793.1  proprotein convertase subtilisin/kexin type 9 precursor

    See identical proteins and their annotated locations for NP_705793.1

    Status: VALIDATED

    Source sequence(s)
    AV027564, BC038085
    Consensus CDS
    CCDS18418.1
    UniProtKB/Swiss-Prot
    B1AZI4, Q3UEH7, Q80W65, Q8BXW9, Q8CFT6
    Related
    ENSMUSP00000055757.6, ENSMUST00000049507.6
    Conserved Domains (3) summary
    cd04077
    Location:159424
    Peptidases_S8_PCSK9_ProteinaseK_like; Peptidase S8 family domain in ProteinaseK-like proteins
    pfam00082
    Location:183420
    Peptidase_S8; Subtilase family
    pfam05922
    Location:80152
    Inhibitor_I9; Peptidase inhibitor I9

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000070.7 Reference GRCm39 C57BL/6J

    Range
    106299531..106321522 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)