Atlas of Genetics and Cytogenetics in Oncology and Haematology


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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
Atlas_Id 50178
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
AliasesFH3; HCHOLA3; LDLCQ1; NARC-1; 
NARC1; PC9
GeneCards (Weizmann)PCSK9
Ensembl hg19 (Hinxton)ENSG00000169174 [Gene_View]  chr1:55505149-55530526 [Contig_View]  PCSK9 [Vega]
Ensembl hg38 (Hinxton)ENSG00000169174 [Gene_View]  chr1:55505149-55530526 [Contig_View]  PCSK9 [Vega]
ICGC DataPortalENSG00000169174
TCGA cBioPortalPCSK9
AceView (NCBI)PCSK9
Genatlas (Paris)PCSK9
WikiGenes255738
SOURCE (Princeton)PCSK9
Genomic and cartography
GoldenPath hg19 (UCSC)PCSK9  -     chr1:55505149-55530526 +  1p32.3   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)PCSK9  -     1p32.3   [Description]    (hg38-Dec_2013)
EnsemblPCSK9 - 1p32.3 [CytoView hg19]  PCSK9 - 1p32.3 [CytoView hg38]
Mapping of homologs : NCBIPCSK9 [Mapview hg19]  PCSK9 [Mapview hg38]
OMIM603776   607786   
Gene and transcription
Genbank (Entrez)AK075365 AK122717 AK124635 AK293870 AK297473
RefSeq transcript (Entrez)NM_174936
RefSeq genomic (Entrez)NC_000001 NC_018912 NG_009061 NT_032977 NW_004929290
Consensus coding sequences : CCDS (NCBI)PCSK9
Cluster EST : UnigeneHs.18844 [ NCBI ]
CGAP (NCI)Hs.18844
Alternative Splicing GalleryENSG00000169174
Gene ExpressionPCSK9 [ NCBI-GEO ]   PCSK9 [ EBI - ARRAY_EXPRESS ]   PCSK9 [ SEEK ]   PCSK9 [ MEM ]
Gene Expression Viewer (FireBrowse)PCSK9 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)255738
GTEX Portal (Tissue expression)PCSK9
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ8NBP7 (Uniprot)
NextProtQ8NBP7  [Sequence]  [Exons]  [Medical]  [Publications]
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 ]   
PhosPhoSitePlusQ8NBP7
Domains : Interpro (EBI)Peptidase_S8/S53_dom    Peptidase_S8_subtilisin-rel    Prot_inh_propept    S8pro/Inhibitor_I9   
Domain families : Pfam (Sanger)Inhibitor_I9 (PF05922)    Peptidase_S8 (PF00082)   
Domain families : Pfam (NCBI)pfam05922    pfam00082   
DMDM Disease mutations255738
Blocks (Seattle)PCSK9
PDB (SRS)2P4E    2PMW    2QTW    2W2M    2W2N    2W2O    2W2P    2W2Q    2XTJ    3BPS    3GCW    3GCX    3H42    3M0C    3P5B    3P5C    3SQO    4K8R    4NE9    4NMX    4OV6   
PDB (PDBSum)2P4E    2PMW    2QTW    2W2M    2W2N    2W2O    2W2P    2W2Q    2XTJ    3BPS    3GCW    3GCX    3H42    3M0C    3P5B    3P5C    3SQO    4K8R    4NE9    4NMX    4OV6   
PDB (IMB)2P4E    2PMW    2QTW    2W2M    2W2N    2W2O    2W2P    2W2Q    2XTJ    3BPS    3GCW    3GCX    3H42    3M0C    3P5B    3P5C    3SQO    4K8R    4NE9    4NMX    4OV6   
PDB (RSDB)2P4E    2PMW    2QTW    2W2M    2W2N    2W2O    2W2P    2W2Q    2XTJ    3BPS    3GCW    3GCX    3H42    3M0C    3P5B    3P5C    3SQO    4K8R    4NE9    4NMX    4OV6   
Structural Biology KnowledgeBase2P4E    2PMW    2QTW    2W2M    2W2N    2W2O    2W2P    2W2Q    2XTJ    3BPS    3GCW    3GCX    3H42    3M0C    3P5B    3P5C    3SQO    4K8R    4NE9    4NMX    4OV6   
SCOP (Structural Classification of Proteins)2P4E    2PMW    2QTW    2W2M    2W2N    2W2O    2W2P    2W2Q    2XTJ    3BPS    3GCW    3GCX    3H42    3M0C    3P5B    3P5C    3SQO    4K8R    4NE9    4NMX    4OV6   
CATH (Classification of proteins structures)2P4E    2PMW    2QTW    2W2M    2W2N    2W2O    2W2P    2W2Q    2XTJ    3BPS    3GCW    3GCX    3H42    3M0C    3P5B    3P5C    3SQO    4K8R    4NE9    4NMX    4OV6   
SuperfamilyQ8NBP7
Human Protein AtlasENSG00000169174
Peptide AtlasQ8NBP7
HPRD07080
IPIIPI00387168   IPI00387169   IPI00909087   IPI00909849   
Protein Interaction databases
DIP (DOE-UCLA)Q8NBP7
IntAct (EBI)Q8NBP7
FunCoupENSG00000169174
BioGRIDPCSK9
STRING (EMBL)PCSK9
ZODIACPCSK9
Ontologies - Pathways
QuickGOQ8NBP7
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  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  ER to Golgi transport vesicle  low-density lipoprotein particle binding  neuron differentiation  receptor inhibitor activity  extrinsic component of external side of plasma membrane  low-density lipoprotein particle receptor catabolic process  positive 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  PCSK9-LDLR complex  PCSK9-AnxA2 complex  negative regulation of receptor activity  negative regulation of sodium ion transmembrane transporter activity  
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  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  ER to Golgi transport vesicle  low-density lipoprotein particle binding  neuron differentiation  receptor inhibitor activity  extrinsic component of external side of plasma membrane  low-density lipoprotein particle receptor catabolic process  positive 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  PCSK9-LDLR complex  PCSK9-AnxA2 complex  negative regulation of receptor activity  negative regulation of sodium ion transmembrane transporter activity  
NDEx Network
Atlas of Cancer Signalling NetworkPCSK9
Wikipedia pathwaysPCSK9
Orthology - Evolution
OrthoDB255738
GeneTree (enSembl)ENSG00000169174
Phylogenetic Trees/Animal Genes : TreeFamPCSK9
Homologs : HomoloGenePCSK9
Homology/Alignments : Family Browser (UCSC)PCSK9
Gene fusions - Rearrangements
Polymorphisms : SNP, variants
NCBI Variation ViewerPCSK9 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PCSK9
dbVarPCSK9
ClinVarPCSK9
1000_GenomesPCSK9 
Exome Variant ServerPCSK9
ExAC (Exome Aggregation Consortium)PCSK9 (select the gene name)
Genetic variants : HAPMAP255738
Genomic Variants (DGV)PCSK9 [DGVbeta]
Mutations
ICGC Data PortalPCSK9 
TCGA Data PortalPCSK9 
Broad Tumor PortalPCSK9
OASIS PortalPCSK9 [ Somatic mutations - Copy number]
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
BioMutasearch PCSK9
DgiDB (Drug Gene Interaction Database)PCSK9
DoCM (Curated mutations)PCSK9 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)PCSK9 (select a term)
intoGenPCSK9
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)1:55505149-55530526  ENSG00000169174
CONAN: Copy Number AnalysisPCSK9 
Mutations and Diseases : HGMDPCSK9
OMIM603776    607786   
MedgenPCSK9
Genetic Testing Registry PCSK9
NextProtQ8NBP7 [Medical]
TSGene255738
GENETestsPCSK9
Huge Navigator PCSK9 [HugePedia]
snp3D : Map Gene to Disease255738
BioCentury BCIQPCSK9
ClinGenPCSK9
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD255738
Chemical/Pharm GKB GenePA38617
Clinical trialPCSK9
Miscellaneous
canSAR (ICR)PCSK9 (select the gene name)
Probes
Litterature
PubMed333 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePCSK9
EVEXPCSK9
GoPubMedPCSK9
iHOPPCSK9
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Sat May 28 11:15:12 CEST 2016

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