Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
255738
Gene name Gene Name - the full gene name approved by the HGNC.
Proprotein convertase subtilisin/kexin type 9
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
PCSK9
Synonyms (NCBI Gene) Gene synonyms aliases
FH3, FHCL3, HCHOLA3, LDLCQ1, NARC-1, NARC1, PC9
Chromosome Chromosome number
1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
1p32.3
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a member of the subtilisin-like proprotein convertase family, which includes proteases that process protein and peptide precursors trafficking through regulated or constitutive branches of the secretory pathway. The encoded protein under
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs509504 A>C,G,T Likely-benign, benign, conflicting-interpretations-of-pathogenicity Non coding transcript variant, synonymous variant, coding sequence variant, missense variant
rs7552471 C>A,T Conflicting-interpretations-of-pathogenicity, likely-benign, benign Non coding transcript variant, synonymous variant, missense variant, coding sequence variant
rs11583680 C>G,T Pathogenic Missense variant, genic upstream transcript variant, upstream transcript variant, coding sequence variant
rs11800243 G>A Conflicting-interpretations-of-pathogenicity, likely-benign, benign Intron variant
rs28362201 G>C,T Uncertain-significance, conflicting-interpretations-of-pathogenicity, likely-benign Genic upstream transcript variant, 5 prime UTR variant, upstream transcript variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT018980 hsa-miR-335-5p Microarray 18185580
MIRT023073 hsa-miR-124-3p Microarray 18668037
MIRT024487 hsa-miR-215-5p Microarray 19074876
MIRT026924 hsa-miR-192-5p Microarray 19074876
MIRT499838 hsa-miR-483-5p PAR-CLIP 20371350
Transcription factors
Transcription factor Regulation Reference
HNF4A Activation 21123766
SREBF1 Activation 17921436
SREBF2 Activation 17448444;17921436;21123766;22288532
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0001822 Process Kidney development IEA
GO:0001822 Process Kidney development ISS 12552133
GO:0001889 Process Liver development IEA
GO:0001889 Process Liver development ISS 12552133
GO:0001920 Process Negative regulation of receptor recycling IDA 17452316, 22848640
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
607786 20001 ENSG00000169174
Protein
UniProt ID Q8NBP7
Protein name Proprotein convertase subtilisin/kexin type 9 (EC 3.4.21.-) (Neural apoptosis-regulated convertase 1) (NARC-1) (Proprotein convertase 9) (PC9) (Subtilisin/kexin-like protease PC9)
Protein function Crucial player in the regulation of plasma cholesterol homeostasis. Binds to low-density lipid receptor family members: low density lipoprotein receptor (LDLR), very low density lipoprotein receptor (VLDLR), apolipoprotein E receptor (LRP1/APOER
PDB 2P4E , 2PMW , 2QTW , 2W2M , 2W2N , 2W2O , 2W2P , 2W2Q , 2XTJ , 3BPS , 3GCW , 3GCX , 3H42 , 3M0C , 3P5B , 3P5C , 3SQO , 4K8R , 4NE9 , 4NMX , 4OV6 , 5OCA , 5VL7 , 5VLA , 5VLH , 5VLK , 5VLL , 5VLP , 6E4Y , 6E4Z , 6MV5 , 6OLZ , 6OM0 , 6OM7 , 6U26 , 6U2F , 6U2N , 6U2P , 6U36 , 6U38 , 6U3I , 6U3X , 7ANQ
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF05922 Inhibitor_I9 77 152 Peptidase inhibitor I9 Domain
PF00082 Peptidase_S8 177 436 Subtilase family Domain
PF18459 PCSK9_C1 449 531 Proprotein convertase subtilisin-like/kexin type 9 C-terminal domain Domain
PF18464 PCSK9_C2 535 600 Proprotein convertase subtilisin-like/kexin type 9 C-terminal domain Domain
PF18463 PCSK9_C3 602 682 Proprotein convertase subtilisin-like/kexin type 9 C-terminal domain Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in neuro-epithelioma, colon carcinoma, hepatic and pancreatic cell lines, and in Schwann cells.
Sequence
Sequence length 692
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Cholesterol metabolism   Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)
VLDLR internalisation and degradation
Post-translational protein phosphorylation
LDL clearance
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Hypercholesterolemia Hypercholesterolemia, familial, 1, hypercholesterolemia, autosomal dominant, 3, Familial hypercholesterolemia rs1372204035, rs28942111, rs1553135930, rs1057519691, rs1254346075, rs28942112, rs1553137693, rs137852912, rs1553137699, rs886046435, rs794728683, rs1553137543 N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Coronary artery disease Coronary artery disease N/A N/A GWAS
Coronary Heart Disease Coronary heart disease N/A N/A GWAS
Homozygous Hypercholesterolemia homozygous familial hypercholesterolemia N/A N/A GenCC
Hyperlipidemia Familial combined hyperlipidemia defined by Brunzell criteria, Familial combined hyperlipidemia defined by Goldstein criteria N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Abetalipoproteinemia Associate 27179706
Acute Coronary Syndrome Associate 37058054
Acute Disease Stimulate 25180781
Adenocarcinoma of Lung Associate 33153169, 35635202, 37189138
Alcoholism Stimulate 30933362
Alzheimer Disease Associate 28438747, 36293049
Alzheimer Disease Stimulate 31437157
Aneurysm Inhibit 30210081
Angina Stable Associate 31672148
Antiphospholipid Syndrome Associate 26820623