PCSK9 - proprotein convertase subtilisin/kexin type 9 Gene
Also Known as FH3; PC9; FHCL3; NARC1; LDLCQ1; NARC-1; HCHOLA3
Species: Homo sapiens
About PCSK9
This gene has 6 transcripts (splice variants), 158 orthologues, 9 paralogues and is associated with 4 phenotypes. Biased expression in lung (RPKM 5.3), liver (RPKM 3.3) and 9 other tissues.
Summary
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 undergoes an autocatalytic processing event with its prosegment in the ER and is constitutively secreted as an inactive protease into the extracellular matrix and trans-Golgi network. It is expressed in liver, intestine and kidney tissues and escorts specific receptors for lysosomal degradation. It plays a role in Cholesterol and fatty acid metabolism. Mutations in this gene have been associated with autosomal dominant familial hypercholesterolemia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014]
PCSK9 Products (9)
| mRNA | Protein | Name |
|---|---|---|
| NM_001407240.1 | NP_001394169.1 | proprotein convertase subtilisin/kexin type 9 isoform 2 preproprotein |
| NM_001407241.1 | NP_001394170.1 | proprotein convertase subtilisin/kexin type 9 isoform 3 preproprotein |
| NM_001407242.1 | NP_001394171.1 | proprotein convertase subtilisin/kexin type 9 isoform 4 preproprotein |
| NM_001407243.1 | NP_001394172.1 | proprotein convertase subtilisin/kexin type 9 isoform 5 preproprotein |
| NM_001407244.1 | NP_001394173.1 | proprotein convertase subtilisin/kexin type 9 isoform 6 preproprotein |
| NM_001407245.1 | NP_001394174.1 | proprotein convertase subtilisin/kexin type 9 isoform 7 preproprotein |
| NM_001407246.1 | NP_001394175.1 | proprotein convertase subtilisin/kexin type 9 isoform 8 |
| NM_001407247.1 | NP_001394176.1 | proprotein convertase subtilisin/kexin type 9 isoform 9 preproprotein |
| NM_174936.4 | NP_777596.2 | proprotein convertase subtilisin/kexin type 9 isoform 1 preproprotein |
PCSK9 Protein Structure
Inhibitor_I9: Peptidase inhibitor I9 (77 - 150)
Peptidase_S8: Subtilase family (182 - 424)
- 0
- 200
- 400
- 600
- 692 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
proprotein convertase subtilisin/kexin type 9 |
|
PCSK9 Protein-protein interaction Information
|
Type
|
Protein Name | Protein ID | Interactor | Interactor Species | Interactor ID | Detection Method | References |
|---|---|---|---|---|---|---|---|
|
Intra
|
PCSK9 | Q8NBP7 | MMP2 | Homo sapiens | P08253 | 25613181 | |
|
Intra
|
PCSK9 | Q8NBP7 | MMP2 | Homo sapiens | P08253 | 25613181 | |
|
Intra
|
PCSK9 | Q8NBP7 | MMP2 | Homo sapiens | P08253 | 25613181 | |
|
Intra
|
PCSK9 | Q8NBP7 | ANXA2 | Homo sapiens | P07355 | 18799458 | |
|
Intra
|
PCSK9 | Q8NBP7 | ANXA2 | Homo sapiens | P07355 | 18799458 | |
|
Intra
|
PCSK9 | Q8NBP7 | LDLR | Homo sapiens | P01130 | 22081141 |
Recombinant PCSK9 Proteins
| Cat. No. | Product Name | Accession | Purity |
|---|---|---|---|
| HY-P70545 | PCSK9 Protein, Human (HEK293, V474I, G670E, His) | Q8NBP7-1 (Q31-Q692, V474I, G670E) | ≥ 95%, as determined by reducing SDS-PAGE. |
| HY-P70546 | PCSK9 Protein, Human (Biotinylated, V474I, G670E, HEK293, His-HA-Avi) | Q8NBP7-1 (Q31-Q692, V474I, G670E) | ≥ 95%, as determined by reducing SDS-PAGE. |
| HY-P72405 | PCSK9 Protein, Human (Biotinylated, V474I, G670E, HEK293, Avi) | Q8NBP7-1 (Q31-Q692, V474I, G670E) | ≥ 95%, as determined by reducing SDS-PAGE. |
| HY-P73728 | PCSK9 Protein, Human (HEK293, mFc) | Q8NBP7-1/NP_777596.2 (Q31-Q692) | ≥ 90%, as determined by reducing SDS-PAGE. |
| HY-P78663 | PCSK9 Protein, Human (D374Y, HEK293, His) | Q8NBP7-1 (Q31-Q692, D374Y) | ≥ 95%, as determined by reducing SDS-PAGE. |
| HY-P78824 | PCSK9 Protein, Human (Biotinylated, D374Y, HEK293, His-Avi) | Q8NBP7-1 (Q31-Q692, D374Y) | ≥ 95%, as determined by reducing SDS-PAGE. |
| HY-P70545A | PCSK9 Protein, Human (HEK293, C-His) | Q8NBP7-1 (Q31-Q692) | ≥ 95%, as determined by reducing SDS-PAGE. |
PCSK9 Antibodies
| Cat. No. | Product Name | Application | Reactivity |
|---|---|---|---|
| HY-P81805 | PCSK9 Antibody (YA1550) | WB, IP | Human |
| HY-P81805A | PCSK9 Antibody (YA1550)(PBS only) | WB, IP | Human |
| HY-P85725 | PCSK9 Antibody (YA5417) | IHC-P | Human |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Hypercholesterolemia, Familial, 3 |
|
|
| Homozygous Familial Hypercholesterolemia |
|
|
| Familial Hypercholesterolemia |
|
|
| Hypercholesterolemia, Familial, 1 |
|
|
| Hypercholesterolemia, Familial, 4 |
|
|
| Familial Hyperlipidemia |
|
|
| Coronary Stenosis |
|
|
| Hypobetalipoproteinemia, Familial, 1 |
|
|
| Arcus Corneae |
|
|
| Corneal Degeneration |
|
|
| Heart Disease |
|
|
| Niemann-Pick Disease |
|
|
| Hypobetalipoproteinemia, Familial, 2 |
|
|
| Nasopharyngitis |
|
|
| Sitosterolemia |
|
|
| Peripheral Artery Disease |
|
|
| Hypolipoproteinemia |
|
|
| Atherosclerosis Susceptibility |
|
|
| Coronary Heart Disease 1 |
|
|
| Intermediate Coronary Syndrome |
|
|
| Hyperlipoproteinemia, Type I |
|
|
| Cardiovascular System Disease |
|
|
| Tyrosinemia, Type I |
|
|
| Amyloidosis, Hereditary, Transthyretin-Related |
|
|
| Neural Tube Defects |
|
|
| Hypothyroidism |
|
|
| Myocardial Infarction |
|
|
| Tyrosinemia |
|
|
| Nephrotic Syndrome |
|
|
| Aortic Valve Disease 2 |
|
|
| Hyperlipidemia, Familial Combined, 3 |
|
|
| Lipid Metabolism Disorder |
|
|
| Carotid Artery Disease |
|
|
| Diabetes Mellitus |
|
|
| Chronic Ethmoiditis |
|
|
| Solid Adenocarcinoma With Mucin Production |
|
|
| Hypertension, Essential |
|
|
| Type 2 Diabetes Mellitus |
|
|
| Nervous System Disease |
|
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Rattus norvegicus | PCSK9 | RGD | RGD:728909 |
| Macaca mulatta | PCSK9 | VGNC | VGNC:100028 |
| Mus musculus | PCSK9 | MGD | MGI:2140260 |
| Others | PCSK9 | NCBI |