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PCSK9 (proprotein convertase subtilisin/kexin type 9)

Identity

Other namesFH3
HCHOLA3
LDLCQ1
NARC-1
NARC1
PC9
HGNC (Hugo) PCSK9
LocusID (NCBI) 255738
Location 1p32.3
Location_base_pair Starts at 55505149 and ends at 55530526 bp from pter ( according to hg19-Feb_2009)
Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 

External links

Nomenclature
HGNC (Hugo)PCSK9   20001
Cards
Entrez_Gene (NCBI)PCSK9  255738  proprotein convertase subtilisin/kexin type 9
GeneCards (Weizmann)PCSK9
Ensembl (Hinxton)ENSG00000169174 [Gene_View]  chr1:55505149-55530526 [Contig_View]  PCSK9 [Vega]
ICGC DataPortalENSG00000169174
AceView (NCBI)PCSK9
Genatlas (Paris)PCSK9
WikiGenes255738
SOURCE (Princeton)NM_174936
Genomic and cartography
GoldenPath (UCSC)PCSK9  -  1p32.3   chr1:55505149-55530526 +  1p32.3   [Description]    (hg19-Feb_2009)
EnsemblPCSK9 - 1p32.3 [CytoView]
Mapping of homologs : NCBIPCSK9 [Mapview]
OMIM603776   607786   
Gene and transcription
Genbank (Entrez)AK075365 AK122717 AK124635 AK293870 AK297473
RefSeq transcript (Entrez)NM_174936
RefSeq genomic (Entrez)AC_000133 NC_000001 NC_018912 NG_009061 NT_032977 NW_001838579 NW_004929290
Consensus coding sequences : CCDS (NCBI)PCSK9
Cluster EST : UnigeneHs.18844 [ NCBI ]
CGAP (NCI)Hs.18844
Alternative Splicing : Fast-db (Paris)GSHG0000543
Alternative Splicing GalleryENSG00000169174
Gene ExpressionPCSK9 [ NCBI-GEO ]     PCSK9 [ SEEK ]   PCSK9 [ MEM ]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ8NBP7 (Uniprot)
NextProtQ8NBP7  [Medical]
With graphics : InterProQ8NBP7
Splice isoforms : SwissVarQ8NBP7 (Swissvar)
Catalytic activity : Enzyme3.4.21.- [ Enzyme-Expasy ]   3.4.21.-3.4.21.- [ IntEnz-EBI ]   3.4.21.- [ BRENDA ]   3.4.21.- [ KEGG ]   
Domains : Interpro (EBI)Inhibitor_I9    Peptidase_S8/S53_dom    Peptidase_S8_subtilisin-rel    Prot_inh_propept   
Related proteins : CluSTrQ8NBP7
Domain families : Pfam (Sanger)Inhibitor_I9 (PF05922)    Peptidase_S8 (PF00082)   
Domain families : Pfam (NCBI)pfam05922    pfam00082   
DMDM Disease mutations255738
Blocks (Seattle)Q8NBP7
PDB (SRS)2P4E    2PMW    2QTW    2W2M    2W2N    2W2O    2W2P    2W2Q    2XTJ    3BPS    3GCW    3GCX    3H42    3M0C    3P5B    3P5C    3SQO    4K8R    4NMX   
PDB (PDBSum)2P4E    2PMW    2QTW    2W2M    2W2N    2W2O    2W2P    2W2Q    2XTJ    3BPS    3GCW    3GCX    3H42    3M0C    3P5B    3P5C    3SQO    4K8R    4NMX   
PDB (IMB)2P4E    2PMW    2QTW    2W2M    2W2N    2W2O    2W2P    2W2Q    2XTJ    3BPS    3GCW    3GCX    3H42    3M0C    3P5B    3P5C    3SQO    4K8R    4NMX   
PDB (RSDB)2P4E    2PMW    2QTW    2W2M    2W2N    2W2O    2W2P    2W2Q    2XTJ    3BPS    3GCW    3GCX    3H42    3M0C    3P5B    3P5C    3SQO    4K8R    4NMX   
Human Protein AtlasENSG00000169174
Peptide AtlasQ8NBP7
HPRD07080
IPIIPI00387168   IPI00387169   IPI00909087   IPI00909849   
Protein Interaction databases
DIP (DOE-UCLA)Q8NBP7
IntAct (EBI)Q8NBP7
FunCoupENSG00000169174
BioGRIDPCSK9
InParanoidQ8NBP7
Interologous Interaction database Q8NBP7
IntegromeDBPCSK9
STRING (EMBL)PCSK9
Ontologies - Pathways
Ontology : AmiGOkidney development  liver development  negative regulation of receptor recycling  positive regulation of receptor internalization  serine-type endopeptidase activity  protein binding  extracellular space  cytoplasm  lysosome  early endosome  late endosome  endoplasmic reticulum  rough endoplasmic reticulum  Golgi apparatus  plasma membrane  proteolysis  triglyceride metabolic process  phospholipid metabolic process  apoptotic process  lysosomal transport  cholesterol metabolic process  cellular response to starvation  cell surface  regulation of receptor activity  negative regulation of low-density lipoprotein particle clearance  protein autoprocessing  sodium channel inhibitor activity  neurogenesis  low-density lipoprotein particle binding  neuron differentiation  extrinsic component of external side of plasma membrane  low-density lipoprotein particle receptor catabolic process  regulation of low-density lipoprotein particle receptor catabolic process  cellular response to insulin stimulus  apolipoprotein binding  very-low-density lipoprotein particle binding  apolipoprotein receptor binding  lipoprotein metabolic process  cholesterol homeostasis  regulation of neuron apoptotic process  positive regulation of neuron apoptotic process  protein self-association  poly(A) RNA binding  perinuclear region of cytoplasm  low-density lipoprotein particle receptor binding  low-density lipoprotein particle receptor binding  very-low-density lipoprotein particle receptor binding  
Ontology : EGO-EBIkidney development  liver development  negative regulation of receptor recycling  positive regulation of receptor internalization  serine-type endopeptidase activity  protein binding  extracellular space  cytoplasm  lysosome  early endosome  late endosome  endoplasmic reticulum  rough endoplasmic reticulum  Golgi apparatus  plasma membrane  proteolysis  triglyceride metabolic process  phospholipid metabolic process  apoptotic process  lysosomal transport  cholesterol metabolic process  cellular response to starvation  cell surface  regulation of receptor activity  negative regulation of low-density lipoprotein particle clearance  protein autoprocessing  sodium channel inhibitor activity  neurogenesis  low-density lipoprotein particle binding  neuron differentiation  extrinsic component of external side of plasma membrane  low-density lipoprotein particle receptor catabolic process  regulation of low-density lipoprotein particle receptor catabolic process  cellular response to insulin stimulus  apolipoprotein binding  very-low-density lipoprotein particle binding  apolipoprotein receptor binding  lipoprotein metabolic process  cholesterol homeostasis  regulation of neuron apoptotic process  positive regulation of neuron apoptotic process  protein self-association  poly(A) RNA binding  perinuclear region of cytoplasm  low-density lipoprotein particle receptor binding  low-density lipoprotein particle receptor binding  very-low-density lipoprotein particle receptor binding  
Protein Interaction DatabasePCSK9
Wikipedia pathwaysPCSK9
Gene fusion - rearrangments
Polymorphisms : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)PCSK9
SNP (GeneSNP Utah)PCSK9
SNP : HGBasePCSK9
Genetic variants : HAPMAPPCSK9
1000_GenomesPCSK9 
ICGC programENSG00000169174 
CONAN: Copy Number AnalysisPCSK9 
Somatic Mutations in Cancer : COSMICPCSK9 
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
Mutations and Diseases : HGMDPCSK9
OMIM603776    607786   
MedgenPCSK9
GENETestsPCSK9
Disease Genetic AssociationPCSK9
Huge Navigator PCSK9 [HugePedia]  PCSK9 [HugeCancerGEM]
Genomic VariantsPCSK9  PCSK9 [DGVbeta]
Exome VariantPCSK9
dbVarPCSK9
ClinVarPCSK9
snp3D : Map Gene to Disease255738
General knowledge
Homologs : HomoloGenePCSK9
Homology/Alignments : Family Browser (UCSC)PCSK9
Phylogenetic Trees/Animal Genes : TreeFamPCSK9
Chemical/Protein Interactions : CTD255738
Chemical/Pharm GKB GenePA38617
Clinical trialPCSK9
Cancer Resource (Charite)ENSG00000169174
Other databases
Probes
Litterature
PubMed261 Pubmed reference(s) in Entrez
CoreMinePCSK9
iHOPPCSK9
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

Contributor(s)

Written09-2002Dessen P, Le Minor S
Updated12-2013Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Mon Oct 13 13:07:13 CEST 2014

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