Aliases for PCSK9 Gene
Aliases for PCSK9 Gene
External Ids for PCSK9 Gene
- HGNC: 20001
- Entrez Gene: 255738
- Ensembl: ENSG00000169174
- OMIM: 607786
- UniProtKB: Q8NBP7
Previous HGNC Symbols for PCSK9 Gene
- HCHOLA3
Previous GeneCards Identifiers for PCSK9 Gene
- GC01P054862
- GC01P054875
- GC01P055217
- GC01P055277
- GC01P055505
- GC01P053618
Summaries for PCSK9 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 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]
GeneCards Summary for PCSK9 Gene
PCSK9 (Proprotein Convertase Subtilisin/Kexin Type 9) is a Protein Coding gene. Diseases associated with PCSK9 include Hypercholesterolemia, Familial, 3 and Homozygous Familial Hypercholesterolemia. Among its related pathways are Neuroscience and Lipoprotein metabolism. GO annotations related to this gene include poly(A) RNA binding and protein self-association.
UniProtKB/Swiss-Prot for PCSK9 Gene
-
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) and apolipoprotein receptor 2 (LRP8/APOER2), and promotes their degradation in intracellular acidic compartments (PubMed:18039658). Acts via a non-proteolytic mechanism to enhance the degradation of the hepatic LDLR through a clathrin LDLRAP1/ARH-mediated pathway. May prevent the recycling of LDLR from endosomes to the cell surface or direct it to lysosomes for degradation. Can induce ubiquitination of LDLR leading to its subsequent degradation (PubMed:18799458, PubMed:17461796, PubMed:18197702, PubMed:22074827). Inhibits intracellular degradation of APOB via the autophagosome/lysosome pathway in a LDLR-independent manner. Involved in the disposal of non-acetylated intermediates of BACE1 in the early secretory pathway (PubMed:18660751). Inhibits epithelial Na(+) channel (ENaC)-mediated Na(+) absorption by reducing ENaC surface expression primarily by increasing its proteasomal degradation. Regulates neuronal apoptosis via modulation of LRP8/APOER2 levels and related anti-apoptotic signaling pathways.
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PCSK9 Gene
Genomics for PCSK9 Gene
Regulatory Elements for PCSK9 Gene
Enhancers for PCSK9 Gene
| GeneHancer Identifier | Enhancer Score | Enhancer Sources | Gene-Enhancer Score | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites within enhancer | Gene Targets for Enhancer |
|---|---|---|---|---|---|---|---|---|
| GH01G055021 | 1.2 | Ensembl ENCODE | 22.2 | -17.3 | -17282 | 1.1 | HDGF ATF1 WRNIP1 ZNF2 ZNF121 GTF3C2 ZNF143 DEK ZNF263 REST | PCSK9 TMEM61 CYB5RL PIR32788 GC01M055004 |
| GH01G055054 | 0.6 | ENCODE | 6.6 | +15.8 | 15796 | 1.8 | ESRRA ZNF10 CEBPB MAFG ZNF316 NFE2L1 NFE2 HNF4A NFE2L2 | PCSK9 USP24 GC01P055065 |
| GH01G055038 | 1.6 | FANTOM5 Ensembl ENCODE | 0.7 | +0.5 | 523 | 3.0 | HNRNPUL1 PKNOX1 ATF1 ARID4B SIN3A DMAP1 FEZF1 BRCA1 ZNF48 YY1 | TMEM61 PCSK9 GC01P055065 |
| GH01G055065 | 1.1 | Ensembl ENCODE | 0.3 | +25.6 | 25643 | 0.2 | TBP ELF3 FOXA2 ATF1 ARID4B THRB SLC30A9 THAP11 MIXL1 HMG20B | GC01P055065 PCSK9 |
| GH01G055064 | 0.7 | Ensembl ENCODE | 0.3 | +24.9 | 24879 | 0.5 | CTCF PRDM10 REST | USP24 GC01P055065 PCSK9 |
- Elite enhancer and/or Elite enhancer-gene association
Download GeneHancer data dump
Enhancers around PCSK9 on UCSC Golden Path with GeneCards custom track
- Transcription factor binding sites by QIAGEN in the PCSK9 gene promoter:
Regulatory Element Products
Genomic Location for PCSK9 Gene
- Chromosome:
- 1
- Start:
- 55,039,476 bp from pter
- End:
- 55,064,853 bp from pter
- Size:
- 25,378 bases
- Orientation:
- Plus strand
Genomic View for PCSK9 Gene
Genes around PCSK9 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 1p32.3 by Ensembl
- 1p32.3 by Entrez Gene
- 1p32.3 by HGNC
PCSK9 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for PCSK9 Gene
Proteins for PCSK9 Gene
-
Protein details for PCSK9 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q8NBP7-PCSK9_HUMAN
- Recommended name:
- Proprotein convertase subtilisin/kexin type 9
- Protein Accession:
- Q8NBP7
- A8T640
- C0JYY9
- Q5PSM5
- Q5SZQ2
Protein attributes for PCSK9 Gene
- Size:
- 692 amino acids
- Molecular mass:
- 74286 Da
- Cofactor:
- Name=Ca(2+); Xref=ChEBI:CHEBI:29108;
- Quaternary structure:
-
- Monomer. Can self-associate to form dimers and higher multimers which may have increased LDLR degrading activity. The precursor protein but not the mature protein may form multimers. Interacts with APOB, VLDLR, LRP8/APOER2 and BACE1. The full length immature form (pro-PCSK9) interacts with SCNN1A, SCNN1B and SCNN1G. The pro-PCSK9 form (via C-terminal domain) interacts with LDLR. Interacts (via the C-terminal domain) with ANXA2 (via repeat Annexin 1); the interaction inhibits the degradation of LDLR (PubMed:18799458).
- SequenceCaution:
-
- Sequence=BAC11572.1; Type=Frameshift; Positions=494; Evidence={ECO:0000305};
Three dimensional structures from OCA and Proteopedia for PCSK9 Gene
Protein Expression for PCSK9 Gene
Selected DME Specific Peptides for PCSK9 Gene
- Q8NBP7:
-
- AHNAFGG
- DIIGASSDCSTC
- SGTSQAAAHVAGI
- RGYLTKILHVFH
- CVDLFAPG
- YSPASAP
- LALKLPHV
- SQSERTARRLQAQAA
- PGFLVKMS
- GPLVVLLPLAGGYSR
- LPHVDYIEEDS
- VLNCQGKGTVS
- EQVTVACE
- ADEYQPP
- AWFPEDQ
- VFAQSIPWNLERI
- HVLTGCS
- DYEELVLALRSEE
- GWTLTGC
- WWPLPLLLLLL
- WRLPGTY
- APGLECKVKEHG
- PAPQEQVTV
- LTLAELRQRLI
- VLTPNLVA
- ERTARRLQAQAARRGYL
- CRTVWSAHSGPTR
- LGAYAVD
- VEVYLLDTSIQ
- TCVVRSRDV
- HREIEGRV
- MGTRVHCH
- LRPRGQPNQCVGHREASIHASCC
Post-translational modifications for PCSK9 Gene
- Cleavage by furin and PCSK5 generates a truncated inactive protein that is unable to induce LDLR degradation.
- Phosphorylation protects the propeptide against proteolysis.
- Undergoes autocatalytic cleavage in the endoplasmic reticulum to release the propeptide from the N-terminus and the cleavage of the propeptide is strictly required for its maturation and activation. The cleaved propeptide however remains associated with the catalytic domain through non-covalent interactions, preventing potential substrates from accessing its active site. As a result, it is secreted from cells as a propeptide-containing, enzymatically inactive protein.
- Glycosylation at posLast=533533
- Modification sites at PhosphoSitePlus
Other Protein References for PCSK9 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- EMD Millipore Complete listing of Mono and Polychlonal Antibodies for PCSK9
- R&D Systems Antibodies for PCSK9 (Proprotein Convertase 9/PCSK9)
- Cell Signaling Technology (CST) Antibodies for PCSK9 (PCSK9)
-
Custom Antibody ServicesOriGene Antibodies for PCSK9
- Novus Biologicals Antibodies for PCSK9
-
Cloud-Clone Corp. Antibodies for PCSK9
- Invitrogen Antibodies for PCSK9
- antibodies-online Antibodies for PCSK9: See all 136
- GeneTex PCSK9 antibody for PCSK9
-
Santa Cruz Biotechnology (SCBT) Antibodies for PCSK9
Protein Products
- R&D Systems Proteins and Enzymes for PCSK9 (Proprotein Convertase 9/PCSK9)
- Enzo Life Sciences proteins for PCSK9
- Search Origene for MassSpec and Protein Over-expression Lysates for PCSK9
- Origene Custom Protein Services for PCSK9
- Novus Biologicals lysates for PCSK9
- Sino Biological Recombinant Proteins for PCSK9
- Sino Biological Cell Lysates for PCSK9
-
Cloud-Clone Corp. Proteins for PCSK9
- antibodies-online Proteins for PCSK9: See all 60
- Search antibodies-online for peptides
- Search GeneTex for Proteins for PCSK9
-
ProSci Proteins for PCSK9
- proprotein convertase subtilisin/kexin type 9 [91-780]
- proprotein convertase subtilisin/kexin type 9 [91-781]
- proprotein convertase subtilisin/kexin type 9 [91-782]
- proprotein convertase subtilisin/kexin type 9 [91-785]
- proprotein convertase subtilisin/kexin type 9 [96-577]
- proprotein convertase subtilisin/kexin type 9 [96-578]
- proprotein convertase subtilisin/kexin type 9 [96-579]
- proprotein convertase subtilisin/kexin type 9 [96-582]
- proprotein convertase subtilisin/kexin type 9 [96-586]
- proprotein convertase subtilisin/kexin type 9 [96-589]
Assay Products
-
Custom Assay ServicesOriGene ELISA Kits for PCSK9
- R&D Systems Proteome Profiler Antibody Arrays, Luminex Assays, ELISAs, and other biochemical assays for PCSK9 (Proprotein Convertase 9/PCSK9)
-
Cloud-Clone Corp Assay Kits for PCSK9
- antibodies-online Kits for PCSK9: See all 48
Domains & Families for PCSK9 Gene
Gene Families for PCSK9 Gene
Protein Domains for PCSK9 Gene
Suggested Antigen Peptide Sequences for PCSK9 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
Q8NBP7UniProtKB/Swiss-Prot:
PCSK9_HUMAN :- The C-terminal domain (CRD) is essential for the LDLR-binding and degrading activities.
- Belongs to the peptidase S8 family.
- Domain:
-
- The C-terminal domain (CRD) is essential for the LDLR-binding and degrading activities.
- The catalytic domain is responsible for mediating its self-association.
- Family:
-
- Belongs to the peptidase S8 family.
Function for PCSK9 Gene
Molecular function for PCSK9 Gene
- UniProtKB/Swiss-Prot EnzymeRegulation:
- Its proteolytic activity is autoinhibited by the non-covalent binding of the propeptide to the catalytic domain. Inhibited by EGTA.
- UniProtKB/Swiss-Prot 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) and apolipoprotein receptor 2 (LRP8/APOER2), and promotes their degradation in intracellular acidic compartments (PubMed:18039658). Acts via a non-proteolytic mechanism to enhance the degradation of the hepatic LDLR through a clathrin LDLRAP1/ARH-mediated pathway. May prevent the recycling of LDLR from endosomes to the cell surface or direct it to lysosomes for degradation. Can induce ubiquitination of LDLR leading to its subsequent degradation (PubMed:18799458, PubMed:17461796, PubMed:18197702, PubMed:22074827). Inhibits intracellular degradation of APOB via the autophagosome/lysosome pathway in a LDLR-independent manner. Involved in the disposal of non-acetylated intermediates of BACE1 in the early secretory pathway (PubMed:18660751). Inhibits epithelial Na(+) channel (ENaC)-mediated Na(+) absorption by reducing ENaC surface expression primarily by increasing its proteasomal degradation. Regulates neuronal apoptosis via modulation of LRP8/APOER2 levels and related anti-apoptotic signaling pathways.
Enzyme Numbers (IUBMB) for PCSK9 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0003723 | RNA binding | IDA | 22658674 |
| GO:0004252 | serine-type endopeptidase activity | IDA | 12552133 |
| GO:0005515 | protein binding | IPI | 17461796 |
| GO:0008233 | peptidase activity | IEA | -- |
| GO:0008236 | serine-type peptidase activity | IEA | -- |
Phenotypes for PCSK9 Gene
- MGI mutant phenotypes for PCSK9:
- inferred from 4 alleles
- GenomeRNAi human phenotypes for PCSK9:
-
- Increased vaccinia virus (VACV) infection
- Decreased viability in esophageal squamous lineage
- Decreased shRNA abundance (Z-score < -2)
- Dynamic nuclei (hole, folded or small irregular)
- Negative genetic interaction between PTEN-/- and PTEN+/+
- Increased shRNA abundance (Z-score > 2)
- Decreased free cholesterol
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for PCSK9
-
-
ViGene Biosciences lentiviral particle packaged cDNA for PCSK9 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for PCSK9 gene
- Search ViGene Biosciences for PCSK9
CRISPR Products
-
OriGene CRISPR knockouts for PCSK9
-
Santa Cruz Biotechnology (SCBT) CRISPR for PCSK9
- GenScript: Design CRISPR guide RNA sequences for PCSK9
miRNA for PCSK9 Gene
- miRTarBase miRNAs that target PCSK9
-
- hsa-mir-335-5p (MIRT018980)
- hsa-mir-124-3p (MIRT023073)
- hsa-mir-215-5p (MIRT024487)
- hsa-mir-192-5p (MIRT026924)
- hsa-mir-6864-5p (MIRT459645)
- hsa-mir-6515-5p (MIRT459646)
- hsa-mir-4656 (MIRT459647)
- hsa-mir-6797-5p (MIRT459648)
- hsa-mir-1249-5p (MIRT459649)
- hsa-mir-6875-5p (MIRT459650)
- hsa-mir-4721 (MIRT459651)
- hsa-mir-6761-5p (MIRT459652)
- hsa-mir-3126-5p (MIRT459653)
- hsa-mir-4802-5p (MIRT459654)
- hsa-mir-4446-3p (MIRT459655)
- hsa-mir-6873-5p (MIRT459656)
- hsa-mir-7845-5p (MIRT459657)
- hsa-mir-6856-5p (MIRT459658)
- hsa-mir-6758-5p (MIRT459659)
- hsa-mir-6882-5p (MIRT459660)
- hsa-mir-1303 (MIRT499825)
- hsa-mir-744-3p (MIRT499826)
- hsa-mir-6501-5p (MIRT499827)
- hsa-mir-4423-5p (MIRT499828)
- hsa-mir-193a-5p (MIRT499829)
- hsa-mir-367-5p (MIRT499830)
- hsa-mir-6764-5p (MIRT499831)
- hsa-mir-1304-3p (MIRT499832)
- hsa-mir-1915-3p (MIRT499833)
- hsa-mir-1208 (MIRT499834)
- hsa-mir-3976 (MIRT499835)
- hsa-mir-6760-3p (MIRT499836)
- hsa-mir-1182 (MIRT499837)
- hsa-mir-483-5p (MIRT499838)
- hsa-mir-7107-5p (MIRT569908)
- hsa-mir-6763-5p (MIRT569909)
- hsa-mir-3150a-3p (MIRT569910)
- hsa-mir-6825-5p (MIRT569911)
- hsa-mir-939-5p (MIRT569912)
- hsa-mir-1343-5p (MIRT569913)
- hsa-mir-3175 (MIRT569914)
- hsa-mir-7106-5p (MIRT569915)
- hsa-mir-650 (MIRT569916)
- hsa-mir-3612 (MIRT569917)
- hsa-mir-765 (MIRT569918)
- hsa-mir-4700-5p (MIRT569919)
- hsa-mir-8089 (MIRT569920)
- hsa-mir-4667-5p (MIRT569921)
- hsa-mir-6852-5p (MIRT569922)
- hsa-mir-759 (MIRT569923)
- hsa-mir-500b-3p (MIRT569924)
- hsa-mir-3174 (MIRT569925)
- hsa-mir-4695-5p (MIRT569926)
- hsa-mir-5586-3p (MIRT569927)
- hsa-mir-7851-3p (MIRT569928)
- hsa-mir-1912 (MIRT569929)
- hsa-mir-1295b-5p (MIRT569930)
miRNA Products
- Search ViGene Biosciences for PCSK9
Inhibitory RNA Products
- Origene RNAi, siRNA, and shRNA products in human, mouse, rat for PCSK9
- Browse OriGene Inhibitory RNA Products For PCSK9
-
ViGene Biosciences ready-to-package AAV shRNAs for PCSK9 gene
Clone Products
-
OriGene ORF clones in human for PCSK9
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for PCSK9
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- Addgene plasmids for PCSK9
- VectorBuilder custom plasmid, inducible vectors for PCSK9
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for PCSK9
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Cell Line Products
-
Horizon Cell Lines for PCSK9
-
ViGene Biosciences adenoviral particle packaged cDNA for PCSK9 gene
-
ViGene Biosciences lentiviral particle packaged cDNA for PCSK9 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for PCSK9 gene
Flow Cytometry Products
- eBioscience FlowRNA Probe Sets (VA1-10322 VA4-10492) for PCSK9
No data available for Transcription Factor Targets and HOMER Transcription for PCSK9 Gene
Localization for PCSK9 Gene
Subcellular locations from UniProtKB/Swiss-Prot for PCSK9 Gene
- Cytoplasm. Secreted. Endosome. Lysosome. Cell surface. Endoplasmic reticulum. Golgi apparatus. Note=Autocatalytic cleavage is required to transport it from the endoplasmic reticulum to the Golgi apparatus and for the secretion of the mature protein. Localizes to the endoplasmic reticulum in the absence of LDLR and colocalizes to the cell surface and to the endosomes/lysosomes in the presence of LDLR. The sorting to the cell surface and endosomes is required in order to fully promote LDLR degradation.
| Compartment | Confidence |
|---|---|
| plasma membrane | 5 |
| extracellular | 5 |
| endoplasmic reticulum | 5 |
| lysosome | 5 |
| golgi apparatus | 5 |
| endosome | 5 |
| cytoskeleton | 1 |
| peroxisome | 1 |
| nucleus | 1 |
| cytosol | 1 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005576 | extracellular region | TAS | -- |
| GO:0005615 | extracellular space | IDA | 12552133 |
| GO:0005737 | cytoplasm | IEA,IDA | 22580899 |
| GO:0005764 | lysosome | IEA,IDA | 17461796 |
| GO:0005765 | lysosomal membrane | TAS | -- |
Pathways & Interactions for PCSK9 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Lipoprotein metabolism | ||
| 2 | Metabolism |
.37
|
|
| 3 | Evolocumab Mechanism | ||
| 4 | Glucose / Energy Metabolism | ||
| 5 | Neuroscience | ||
Pathways by source for PCSK9 Gene
2 Cell Signaling Technology pathways for PCSK9 Gene
2 BioSystems pathways for PCSK9 Gene
7 Reactome pathways for PCSK9 Gene
Interacting Proteins for PCSK9 Gene
Selected Interacting proteins:
ENSP00000303208
Q8NBP7-PCSK9_HUMAN
for PCSK9 Gene via
STRING
MINT
IID
UniProtKB
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0001822 | kidney development | ISS | 12552133 |
| GO:0001889 | liver development | ISS | 12552133 |
| GO:0001920 | negative regulation of receptor recycling | IDA | 17452316 |
| GO:0002092 | positive regulation of receptor internalization | IDA | 17328821 |
| GO:0006508 | proteolysis | IEA | -- |
No data available for SIGNOR curated interactions for PCSK9 Gene
Drugs & Compounds for PCSK9 Gene
(43) Drugs for PCSK9 Gene - From: DrugBank, PharmGKB, ClinicalTrials, ApexBio, DGIdb, HMDB, and Novoseek
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| alirocumab | Approved | Pharma | Target, inhibitor | 0 | ||
| evolocumab | Approved | Pharma | Enzyme, inhibitor | 0 | ||
| Lomitapide | Approved | Pharma | 0 | |||
| Estradiol | Approved, Investigational, Vet_approved | Pharma | Sex hormone | 1318 | ||
| Methyltestosterone | Approved | Pharma | 563 |
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
|---|
(1) ApexBio Compounds for PCSK9 Gene
| Compound | Action | Cas Number |
|---|---|---|
| SBC-115076 | Anti-PCSK9 compound | 489415-96-5 |
Drug Products
- ApexBio compounds for PCSK9
Transcripts for PCSK9 Gene
mRNA/cDNA for PCSK9 Gene
- (1) REFSEQ mRNAs :
- (4) Additional mRNA sequences :
- (53) Selected AceView cDNA sequences:
- (2) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for PCSK9 Gene
CRISPR Products
-
OriGene CRISPR knockouts for PCSK9
-
Santa Cruz Biotechnology (SCBT) CRISPR for PCSK9
- GenScript: Design CRISPR guide RNA sequences for PCSK9
miRNA Products
- Search ViGene Biosciences for PCSK9
Inhibitory RNA Products
- Origene RNAi, siRNA, and shRNA products in human, mouse, rat for PCSK9
- Browse OriGene Inhibitory RNA Products For PCSK9
-
ViGene Biosciences ready-to-package AAV shRNAs for PCSK9 gene
Clone Products
-
OriGene ORF clones in human for PCSK9
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for PCSK9
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- Addgene plasmids for PCSK9
- VectorBuilder custom plasmid, inducible vectors for PCSK9
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for PCSK9
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Flow Cytometry Products
- eBioscience FlowRNA Probe Sets (VA1-10322 VA4-10492) for PCSK9
| ExUns: | 1 | ^ | 2a | · | 2b | ^ | 3 | ^ | 4 | ^ | 5a | · | 5b | ^ | 6a | · | 6b | ^ | 7 | ^ | 8 | ^ | 9a | · | 9b | ^ | 10 | ^ | 11 | ^ | 12 | ^ | 13 | ^ | 14 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | - | - | |||||||||||||||||||||||||||||||
| SP2: | - | - | |||||||||||||||||||||||||||||||||
| SP3: | - | ||||||||||||||||||||||||||||||||||
| SP4: | - | - |
Expression for PCSK9 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Kidney (Urinary System)
- S-shaped Body Cells S-shaped Body
- Comma-shaped Body Cells Comma-shaped Body
- Distal Renal Vesicle Cells Renal Vesicle
- Renal Vesicle
- Comma-shaped Body
-
Eye (Sensory Organs)
- Glycinergic Amacrine Cells Inner Nuclear Layer
- GABAergic Amacrine Cells Inner Nuclear Layer
-
Neurons
- Glycinergic Amacrine Cells Inner Nuclear Layer
- GABAergic Amacrine Cells Inner Nuclear Layer
- Gut Tube (Gastrointestinal Tract)
- Brain (Nervous System)
- Neural Tube (Nervous System)
- Liver (Hepatobiliary System)
- Ovary (Reproductive System)
- Bone (Muscoskeletal System)
- Cartilage (Muscoskeletal System)
mRNA differential expression in normal tissues according to GTEx for PCSK9 Gene
This gene is overexpressed in Liver (x18.8), Brain - Cerebellar Hemisphere (x6.1), and Brain - Cerebellum (x5.6).
This gene is overexpressed in Serum (61.4) and Plasma (7.1).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for PCSK9 Gene
NURSA nuclear receptor signaling pathways regulating expression of PCSK9 Gene:
PCSK9SOURCE GeneReport for Unigene cluster for PCSK9 Gene:
Hs.18844mRNA Expression by UniProt/SwissProt for PCSK9 Gene:
Q8NBP7-PCSK9_HUMAN
Tissue specificity:
Expressed in neuro-epithelioma, colon carcinoma, hepatic and pancreatic cell lines, and in Schwann cells.
Evidence on tissue expression from TISSUES for PCSK9 Gene
- Nervous system(4.5)
- Blood(2.8)
- Liver(2.8)
- Lung(2.5)
Phenotype-based relationships between genes and organs from Gene ORGANizer for PCSK9 Gene
Germ Layers:
- ectoderm
- endoderm
- mesoderm
Systems:
- cardiovascular
- digestive
- immune
- integumentary
- nervous
- skeleton
Organs:
Head and neck:
- ear
- eye
- eyelid
- face
- head
Thorax:
- heart
Abdomen:
- duodenum
- intestine
- liver
- small intestine
General:
- blood
- blood vessel
- skin
- white blood cell
Primer Products
-
OriGene qPCR primer pairs for PCSK9
Orthologs for PCSK9 Gene
This gene was present in the common ancestor of animals and fungi.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | PCSK9 34 35 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Pcsk9 34 |
|
||
| mouse (Mus musculus) |
Mammalia | Pcsk9 34 16 35 |
|
||
| dog (Canis familiaris) |
Mammalia | PCSK9 35 |
|
OneToOne | |
| oppossum (Monodelphis domestica) |
Mammalia | PCSK9 35 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | PCSK9 35 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | PCSK9 34 35 |
|
||
| lizard (Anolis carolinensis) |
Reptilia | PCSK9 35 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | pcsk9 34 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | pcsk9 34 35 |
|
||
| baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | YSP3 34 35 37 |
|
||
| RRT12 35 |
|
OneToMany | |||
| PRB1 35 |
|
OneToMany | |||
| fission yeast (Schizosaccharomyces pombe) |
Schizosaccharomycetes | psp3 34 |
|
- Species where no ortholog for PCSK9 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African clawed frog (Xenopus laevis)
- African malaria mosquito (Anopheles gambiae)
- Alicante grape (Vitis vinifera)
- alpha proteobacteria (Wolbachia pipientis)
- amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- barley (Hordeum vulgare)
- beta proteobacteria (Neisseria meningitidis)
- bread mold (Neurospora crassa)
- Chromalveolata (Phytophthora infestans)
- common water flea (Daphnia pulex)
- corn (Zea mays)
- cow (Bos Taurus)
- E. coli (Escherichia coli)
- filamentous fungi (Aspergillus nidulans)
- Firmicute bacteria (Streptococcus pneumoniae)
- fruit fly (Drosophila melanogaster)
- green algae (Chlamydomonas reinhardtii)
- honey bee (Apis mellifera)
- K. lactis yeast (Kluyveromyces lactis)
- loblloly pine (Pinus taeda)
- malaria parasite (Plasmodium falciparum)
- medicago trunc (Medicago Truncatula)
- moss (Physcomitrella patens)
- orangutan (Pongo pygmaeus)
- pig (Sus scrofa)
- rainbow trout (Oncorhynchus mykiss)
- rice (Oryza sativa)
- rice blast fungus (Magnaporthe grisea)
- schistosome parasite (Schistosoma mansoni)
- sea anemone (Nematostella vectensis)
- sea squirt (Ciona intestinalis)
- sea squirt (Ciona savignyi)
- sea urchin (Strongylocentrotus purpuratus)
- sorghum (Sorghum bicolor)
- soybean (Glycine max)
- stem rust fungus (Puccinia graminis)
- sugarcane (Saccharum officinarum)
- thale cress (Arabidopsis thaliana)
- tomato (Lycopersicon esculentum)
- toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- wheat (Triticum aestivum)
- worm (Caenorhabditis elegans)
Paralogs for PCSK9 Gene
No data available for Paralogs for PCSK9 Gene
Variants for PCSK9 Gene
Polymorphic Variants from UniProtKB/Swiss-Prot for PCSK9 Gene
- PCSK9_HUMAN-Q8NBP7
- Genetic variations in PCSK9 define the low density lipoprotein cholesterol level quantitative trait locus 1 (LDLCQ1) [MIM:603776].
- PCSK9_HUMAN-Q8NBP7
- Variant Leu-23 ins polymorphism in PCSK9 might have a modifier effect on LDLR mutation and familial hypercholesterolemia.
| SNP ID | Clin | Chr 01 pos | Sequence Context | AA Info | Type |
|---|---|---|---|---|---|
| rs137852912 | Pathogenic, Hypercholesterolemia, autosomal dominant, 3 (HCHOLA3) [MIM:603776] | 55,057,454(+) | CCAGC(A/C/G/T)ACTGC | nc-transcript-variant, reference, missense | |
| rs28942111 | Pathogenic, Hypercholesterolemia, autosomal dominant, 3 (HCHOLA3) [MIM:603776] | 55,044,016(+) | ATGAG(A/T)GGCGA | intron-variant, reference, missense | |
| rs28942112 | Pathogenic, Hypercholesterolemia, autosomal dominant, 3 (HCHOLA3) [MIM:603776] | 55,052,400(+) | CCCGC(C/T)TCCAC | nc-transcript-variant, reference, missense | |
| rs370507566 | Hypercholesterolemia, autosomal dominant, 3 (HCHOLA3) [MIM:603776] | 55,057,404(+) | TGGCC(A/G/T)CTGTG | nc-transcript-variant, reference, missense | |
| rs374603772 | other, Hypercholesterolemia, autosomal dominant, 3 (HCHOLA3) [MIM:603776] | 55,058,630(+) | AGCGG(C/T)GGGGC | nc-transcript-variant, reference, missense |
Residual Variation Intolerance Score:
98.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
5.39;
71.06% of all genes are more intolerant (likely to be disease-causing)
Relevant External Links for PCSK9 Gene
Disorders for PCSK9 Gene
(10) MalaCards diseases for PCSK9 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| hypercholesterolemia, familial, 3 |
|
|
| homozygous familial hypercholesterolemia |
|
|
| hypercholesterolemia, familial |
|
|
| pcsk9-related familial hypercholesterolemia, autosomal dominant |
|
|
| gastric papillary adenocarcinoma |
|
|
Search PCSK9 in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
PCSK9_HUMAN- Hypercholesterolemia, autosomal dominant, 3 (HCHOLA3) [MIM:603776]: A familial condition characterized by elevated circulating cholesterol contained in either low-density lipoproteins alone or also in very-low-density lipoproteins. {ECO:0000269 PubMed:12730697, ECO:0000269 PubMed:18799458, ECO:0000269 PubMed:24808179}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Relevant External Links for PCSK9
No data available for Genatlas for PCSK9 Gene
Publications for PCSK9 Gene
- The molecular basis of familial hypercholesterolemia in Lebanon: spectrum of LDLR mutations and role of PCSK9 as a modifier gene. (PMID: 19319977) Abifadel M. … Boileau C. (Hum. Mutat. 2009) 3 4 22 46 64
- A spectrum of PCSK9 alleles contributes to plasma levels of low- density lipoprotein cholesterol. (PMID: 16465619) Kotowski I.K. … Hobbs H.H. (Am. J. Hum. Genet. 2006) 3 4 22 46 64
- The secretory proprotein convertase neural apoptosis-regulated convertase 1 (NARC-1): liver regeneration and neuronal differentiation. (PMID: 12552133) Seidah N.G. … Chretien M. (Proc. Natl. Acad. Sci. U.S.A. 2003) 2 3 4 22 64
- Mutations in PCSK9 cause autosomal dominant hypercholesterolemia. (PMID: 12730697) Abifadel M. … Boileau C. (Nat. Genet. 2003) 2 3 4 22 64
- Loss-of-function mutation R46L in the PCSK9 gene has little impact on the levels of total serum cholesterol in familial hypercholesterolemia heterozygotes. (PMID: 19917273) StrA … Leren T.P. (Clin. Chim. Acta 2010) 3 22 46 64
Products for PCSK9 Gene
- R&D Systems Antibodies for PCSK9 (Proprotein Convertase 9/PCSK9)
- R&D Systems Proteins and Enzymes for PCSK9 (Proprotein Convertase 9/PCSK9)
- R&D Systems ELISAs, Luminex Assays, Proteome Profiler Antibody Arrays, and other biochemical assays for PCSK9 (Proprotein Convertase 9/PCSK9)
- Browse Primary Antibodies
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- Browse Small Molecules
- Custom Antibody ServicesOriGene Antibodies for PCSK9
- Custom Assay ServicesOriGene ELISA Kits for PCSK9
- Search Origene for MassSpec and Protein Over-expression Lysates for PCSK9
- Origene Custom Protein Services for PCSK9
- Origene shRNA, siRNA, and RNAi products in human, mouse, rat for PCSK9
- Browse OriGene Inhibitory RNA Products For PCSK9
- OriGene qPCR primer pairs for PCSK9
- OriGene CRISPR knockouts for PCSK9
- OriGene ORF clones in human for PCSK9
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For PCSK9
- GenScript: Next-day shipping cDNA ORF clone for PCSK9 in any vector
- GenScript Custom Purified and Recombinant Proteins Services for PCSK9
- GenScript Custom Assay Services for PCSK9
- GenScript Custom overexpressing Cell Line Services for PCSK9
- GenScript: Design CRISPR guide RNA sequences for PCSK9
- Design optimal peptide antigens
- CloneReady with Over 120,000 Genes
- Gene Synthesis: Any Gene in Any Vector
- Vector-based siRNA and miRNA, Ready for Transfection
- Gene Mutant Library, Variants up to 10^11
- Plasmid Preparation
- GenScript Custom Peptide Services for PCSK9
- Cell Signaling Technology (CST) Antibodies for PCSK9 (PCSK9)
- Search for Antibodies & Assays
- Sino Biological Human cDNA Clone for PCSK9
- Sino Biological Recombinant Proteins for PCSK9
- Sino Biological Cell Lysates for PCSK9
- Sino Biological Antibodies
- Sino Biological ELISA Kits and Pair Sets
- Sino Biological Cell Lysates
- Sino Biological qPCR Primers
- Sino Biological CRO Services for Proteins, Antibodies and Genes
- Sino Biological Transfection Reagents
- Novus Biologicals Antibodies for PCSK9
- Novus Biologicals lysates for PCSK9
- Novus Biologicals
- Novus Biologicals Tissue Microarrays
- Cloud-Clone Corp. Antibodies for PCSK9
- Cloud-Clone Corp. Proteins for PCSK9
- Cloud-Clone Corp Assay Kits for PCSK9
- Invitrogen Antibodies for PCSK9
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- ApexBio compounds for PCSK9
- Addgene plasmids for PCSK9
- antibodies-online Antibodies for PCSK9: See all 136
- antibodies-online Kits for PCSK9: See all 48
- antibodies-online Proteins for PCSK9: See all 60
- Search antibodies-online for peptides
- GeneTex PCSK9 antibody for PCSK9
- Search GeneTex for Proteins for PCSK9
- ViGene Biosciences adenoviral particle packaged cDNA for PCSK9 gene
- ViGene Biosciences lentiviral particle packaged cDNA for PCSK9 gene
- ViGene Biosciences ready-to-package AAV shRNAs for PCSK9 gene
- Search ViGene Biosciences for PCSK9
- Santa Cruz Biotechnology (SCBT) Antibodies for PCSK9
- Search Santa Cruz Biotechnology (SCBT) for PCSK9 siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for PCSK9
- Search for PCSK9 Antibodies at ProSci
- Custom Antibody Services
- ProSci Proteins for PCSK9
- proprotein convertase subtilisin/kexin type 9 [91-780]
- proprotein convertase subtilisin/kexin type 9 [91-781]
- proprotein convertase subtilisin/kexin type 9 [91-782]
- proprotein convertase subtilisin/kexin type 9 [91-785]
- proprotein convertase subtilisin/kexin type 9 [96-577]
- proprotein convertase subtilisin/kexin type 9 [96-578]
- proprotein convertase subtilisin/kexin type 9 [96-579]
- proprotein convertase subtilisin/kexin type 9 [96-582]
- proprotein convertase subtilisin/kexin type 9 [96-586]
- proprotein convertase subtilisin/kexin type 9 [96-589]
- Horizon Cell Lines for PCSK9
- Cyagen custom Knockout/knockin (KOKI) mouse models for PCSK9
- VectorBuilder custom plasmid, inducible vectors for PCSK9
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for PCSK9
- VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Sources for PCSK9 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) RNAdb
- (29) ASD
- (30) ECgene
- (31) GeneAnnot
- (32) CGAP SAGE
- (33) SOURCE
- (34) HomoloGene
- (35) PanEnsembl
- (36) euGenes
- (37) SGD
- (38) FlyBase
- (39) WormBase
- (40) Pseudogene
- (41) DGV
- (42) dbSNP
- (43) GenAtlas
- (44) GeneTests
- (45) HGMD
- (46) GAD
- (47) LSDB
- (48) BGMUT
- (49) HuGE
- (50) eBioscience
- (51) Atlas
- (52) Cell Signaling Technology
- (53) GenBank
- (54) H-invDB
- (55) HORDE
- (56) HUGE
- (57) IMGT
- (58) Leiden
- (59) MILLIPORE
- (60) miRBase
- (61) DME
- (62) NCBI
- (63) OriGene
- (64) PubMed
- (65) R&D Systems
- (66) TGDB
- (67) Tocris
- (68) Abcam
- (69) Novus
- (70) ProSpec
- (71) Sino Biological
- (72) GenScript
- (73) Qiagen
- (74) Cloud-Clone Corp.
- (75) Enzo Life Sciences
- (76) OCA
- (77) Proteopedia
- (78) MOPED
- (79) SPIRE
- (80) neXtProt
- (81) Reactome
- (82) GeneGo (Thomson Reuters)
- (83) fRNAdb
- (84) DISEASES
- (85) SIMAP
- (86) GenomeRNAi
- (87) LifeMap
- (88) miRTarBase
- (89) MalaCards
- (90) Invitrogen
- (91) BitterDB
- (92) Vector BioLabs
- (93) ESI-BIO
- (94) RefSeq
- (95) BioSystems
- (96) MaxQB
- (97) IUPHAR
- (98) BioGPS
- (99) Illumina
- (100) COMPARTMENTS
- (101) HOMER
- (102) PaxDb
- (103) ApexBio
- (104) Addgene
- (105) antibodies-online
- (106) CYP
- (107) NONCODE
- (108) SwitchGear Genomics
- (109) TreeFam
- (110) PathCards
- (111) GeneReviews
- (112) GeneTex
- (113) Taconic Biosciences
- (114) GTEx
- (115) ProteomicsDB
- (116) SCBT
- (117) DGIdb
- (118) ClinicalTrials
- (119) FDA Approved Drugs
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- (122) diseasecard
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- (128) Genetics Home Reference
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- (133) NCBI Bookshelf
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- (135) Gene Damage Index
- (136) ViGene Biosciences
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- (138) UDN
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- (140) FANTOM5
- (141) ENCODE
- (142) ProSci
- (143) Horizon
- (144) NURSA
- (145) IID
- (146) Cyagen
- (147) VectorBuilder
- (148) SNPedia
- (149) BRCA Exchange
- (150) St John's Lab
- (151) CIViC
- (152) ProteoGenix
- (153) dbSUPER
- (154) TISSUES
- (155) Gene ORGANizer