PCSK9 (proprotein convertase subtilisin/kexin type 9)

2008-07-01 Affiliation

Identity

HGNC

PCSK9

LOCATION

1p32.3

LOCUSID

255738

ALIAS

FH3,FHCL3,HCHOLA3,LDLCQ1,NARC-1,NARC1,PC9

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

Other Information

Locus ID:

NCBI: 255738
MIM: 607786
HGNC: 20001
Ensembl: ENSG00000169174

Variants:

dbSNP: 255738
ClinVar: 255738
TCGA: ENSG00000169174
COSMIC: PCSK9

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000169174	ENST00000302118	Q8NBP7

Expression (GTEx)

Adipose - Subcutaneous

Adipose - Visceral

Adrenal Gland

Artery - Aorta

Artery - Tibial

Bladder

Brain - Amygdala

Brain - Anterior cingulate cortex

Brain - Caudate

Brain - Cerebellar Hemisphere

Brain - Cerebellum

Brain - Cortex

Brain - Frontal Cortex

Brain - Hippocampus

Brain - Hypothalamus

Brain - Nucleus accumbens

Brain - Putamen

Brain - Spinal cord

Brain - Substantia nigra

Breast - Mammary Tissue

Cells - Cultured fibroblasts

Cells - EBV - transformed lymphocytes

Cervix - Ectocervix

Cervix - Endocervix

Colon - Sigmoid

Colon - Transverse

Esophagus - Gastroesophageal Junction

Esophagus - Mucosa

Esophagus - Muscularis

Fallopian Tube

Heart - Atrial Appendage

Heart - Left Ventricle

Kidney - Cortex

Kidney - Medulla

Liver

Lung

Minor Salivary Gland

Muscle - Skeletal

Nerve - Tibial

Ovary

Pancreas

Pituitary

Prostate

Skin - Not Sun Exposed

Skin - Sun Exposed

Small Intestine - Terminal Ileum

Spleen

Stomach

Testis

Thyroid

Uterus

Vagina

Whole Blood

Pathways

Pathway	Source	External ID
Metabolism	REACTOME	R-HSA-1430728
Metabolism of lipids and lipoproteins	REACTOME	R-HSA-556833
Lipid digestion, mobilization, and transport	REACTOME	R-HSA-73923
Lipoprotein metabolism	REACTOME	R-HSA-174824
LDL-mediated lipid transport	REACTOME	R-HSA-171052
VLDL interactions	REACTOME	R-HSA-8855121
VLDLR internalisation and degradation	REACTOME	R-HSA-8866427

PharmGKB

Entity ID	Name	Type	Evidence	Association	PMIDs
PA166114922	lomitapide	Chemical	LabelAnnotation	associated
PA166114942	familial hypercholesterolemia	Disease	DataAnnotation, Literature, MultilinkAnnotation	associated	23788249
PA227	LDLR	Gene	DataAnnotation	associated
PA50	APOB	Gene	DataAnnotation	associated

References

Pubmed ID	Year	Title	Citations
18193043	2008	Newly identified loci that influence lipid concentrations and risk of coronary artery disease.	690
19198609	2009	Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants.	460
18354102	2008	Polymorphisms associated with cholesterol and risk of cardiovascular events.	250
20714348	2010	Common inherited variation in mitochondrial genes is not enriched for associations with type 2 diabetes or related glycemic traits.	246
20971364	2010	A multilocus genetic risk score for coronary heart disease: case-control and prospective cohort analyses.	181
17452316	2007	Binding of proprotein convertase subtilisin/kexin type 9 to epidermal growth factor-like repeat A of low density lipoprotein receptor decreases receptor recycling and increases degradation.	179
27959767	2016	Variation in PCSK9 and HMGCR and Risk of Cardiovascular Disease and Diabetes.	113
18039658	2008	The proprotein convertase PCSK9 induces the degradation of low density lipoprotein receptor (LDLR) and its closest family members VLDLR and ApoER2.	108
20400780	2010	Candidate gene association resource (CARe): design, methods, and proof of concept.	102
19687008	2009	Hepatocyte nuclear factor 1alpha plays a critical role in PCSK9 gene transcription and regulation by the natural hypocholesterolemic compound berberine.	88

Citation

Dessen P

PCSK9 (proprotein convertase subtilisin/kexin type 9)

Atlas Genet Cytogenet Oncol Haematol. 2008-07-01

Online version: http://atlasgeneticsoncology.org/gene/50178/pcsk9