• Gene id: 255738

Gene Summary

• Gene Symbol: PCSK9   Gene   UCSC   Ensembl
• Aliases: FH3, FHCL3, HCHOLA3, LDLCQ1, NARC-1, NARC1, PC9
• Gene name: proprotein convertase subtilisin/kexin type 9
• Alternate names: proprotein convertase subtilisin/kexin type 9, convertase subtilisin/kexin type 9 preproprotein, neural apoptosis regulated convertase 1, subtilisin/kexin-like protease PC9,
• Gene location: 1p32.3 (55039547: 55064852)     Exons: 13     NC_000001.11
• Gene summary(Entrez): 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
• OMIM: 605217

Protein Summary

• Protein general information: Q8NBP7  
  • 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)
  • Length: 692  
  • Mass: 74286
  • Tissue specificity: Expressed in neuro-epithelioma, colon carcinoma, hepatic and pancreatic cell lines, and in Schwann cells.
• Sequence:

  MGTVSSRRSWWPLPLLLLLLLLLGPAGARAQEDEDGDYEELVLALRSEEDGLAEAPEHGTTATFHRCAKDPWRLP
  GTYVVVLKEETHLSQSERTARRLQAQAARRGYLTKILHVFHGLLPGFLVKMSGDLLELALKLPHVDYIEEDSSVF
  AQSIPWNLERITPPRYRADEYQPPDGGSLVEVYLLDTSIQSDHREIEGRVMVTDFENVPEEDGTRFHRQASKCDS
  HGTHLAGVVSGRDAGVAKGASMRSLRVLNCQGKGTVSGTLIGLEFIRKSQLVQPVGPLVVLLPLAGGYSRVLNAA
  CQRLARAGVVLVTAAGNFRDDACLYSPASAPEVITVGATNAQDQPVTLGTLGTNFGRCVDLFAPGEDIIGASSDC
  STCFVSQSGTSQAAAHVAGIAAMMLSAEPELTLAELRQRLIHFSAKDVINEAWFPEDQRVLTPNLVAALPPSTHG
  AGWQLFCRTVWSAHSGPTRMATAVARCAPDEELLSCSSFSRSGKRRGERMEAQGGKLVCRAHNAFGGEGVYAIAR
  CCLLPQANCSVHTAPPAEASMGTRVHCHQQGHVLTGCSSHWEVEDLGTHKPPVLRPRGQPNQCVGHREASIHASC
  CHAPGLECKVKEHGIPAPQEQVTVACEEGWTLTGCSALPGTSHVLGAYAVDNTCVVRSRDVSTTGSTSEGAVTAV
  AICCRSRHLAQASQELQ

• Structural information:
  • Protein Domains: (77..14-)
    (/note="Inhibitor-I9)
    (/evidence="ECO:0000255-)
    (155..46-)
    (/note="Peptidase-S8)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU01240"-)
  • Interpro: IPR041254  IPR041052  IPR041051  IPR034193  IPR000209   IPR036852  IPR015500  IPR010259  IPR037045  
  • Prosite: PS51892
  • CDD: cd04077
  • 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 6F5G 6MV5 6OLZ 6OM0 6OM7 6U26 6U2N 6U2P 6U36 6U38 6U3X
  • PDBsum: 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 6F5G 6MV5 6OLZ 6OM0 6OM7 6U26 6U2N 6U2P 6U36 6U38 6U3X
  • DIP: 29694
  • STRING: ENSP00000303208
• Other Databases: GeneCards:  PCSK9  Malacards:  PCSK9

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0004252	serine-type endopeptidase activity	IDA	molecular function
GO:0005615	extracellular space	IDA	cellular component
GO:0005615	extracellular space	IDA	cellular component
GO:0005615	extracellular space	IDA	cellular component
GO:0050750	low-density lipoprotein particle receptor binding	IDA	molecular function
GO:0042632	cholesterol homeostasis	IMP	biological process
GO:0009267	cellular response to starvation	ISS	biological process
GO:0016540	protein autoprocessing	IDA	biological process
GO:0001822	kidney development	ISS	biological process
GO:0022008	neurogenesis	ISS	biological process
GO:0032869	cellular response to insulin stimulus	ISS	biological process
GO:0043525	positive regulation of neuron apoptotic process	IMP	biological process
GO:0032802	low-density lipoprotein particle receptor catabolic process	IDA	biological process
GO:0030182	neuron differentiation	ISS	biological process
GO:0001889	liver development	ISS	biological process
GO:0004252	serine-type endopeptidase activity	IBA	molecular function
GO:0005615	extracellular space	IBA	cellular component
GO:0005794	Golgi apparatus	IDA	cellular component
GO:0005783	endoplasmic reticulum	IDA	cellular component
GO:0005764	lysosome	IDA	cellular component
GO:0043621	protein self-association	IDA	molecular function
GO:0032802	low-density lipoprotein particle receptor catabolic process	IDA	biological process
GO:0019871	sodium channel inhibitor activity	IDA	molecular function
GO:0009986	cell surface	IDA	cellular component
GO:0005770	late endosome	IDA	cellular component
GO:0005769	early endosome	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0043523	regulation of neuron apoptotic process	ISS	biological process
GO:0034185	apolipoprotein binding	ISS	molecular function
GO:0034189	very-low-density lipoprotein particle binding	ISS	molecular function
GO:0030169	low-density lipoprotein particle binding	ISS	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0004252	serine-type endopeptidase activity	IEA	molecular function
GO:0006508	proteolysis	IEA	biological process
GO:0006508	proteolysis	IEA	biological process
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0016787	hydrolase activity	IEA	molecular function
GO:0008233	peptidase activity	IEA	molecular function
GO:0005576	extracellular region	IEA	cellular component
GO:0005764	lysosome	IEA	cellular component
GO:0005768	endosome	IEA	cellular component
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0008236	serine-type peptidase activity	IEA	molecular function
GO:0006915	apoptotic process	IEA	biological process
GO:0008202	steroid metabolic process	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0008203	cholesterol metabolic process	IEA	biological process
GO:0006629	lipid metabolic process	IEA	biological process
GO:0032802	low-density lipoprotein particle receptor catabolic process	TAS	biological process
GO:0034383	low-density lipoprotein particle clearance	TAS	biological process
GO:0044267	cellular protein metabolic process	TAS	biological process
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005765	lysosomal membrane	TAS	cellular component
GO:0005788	endoplasmic reticulum lumen	TAS	cellular component
GO:0036020	endolysosome membrane	TAS	cellular component
GO:0036020	endolysosome membrane	TAS	cellular component
GO:0043687	post-translational protein modification	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0043523	regulation of neuron apoptotic process	IEA	biological process
GO:0042157	lipoprotein metabolic process	IEA	biological process
GO:0034185	apolipoprotein binding	IEA	molecular function
GO:0032869	cellular response to insulin stimulus	IEA	biological process
GO:0032803	regulation of low-density lipoprotein particle receptor catabolic process	IEA	biological process
GO:0032799	low-density lipoprotein receptor particle metabolic process	IEA	biological process
GO:0022008	neurogenesis	IEA	biological process
GO:0006644	phospholipid metabolic process	IEA	biological process
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0005615	extracellular space	IEA	cellular component
GO:0005576	extracellular region	IEA	cellular component
GO:0001822	kidney development	IEA	biological process
GO:0042632	cholesterol homeostasis	IEA	biological process
GO:0032869	cellular response to insulin stimulus	IEA	biological process
GO:0022008	neurogenesis	IEA	biological process
GO:0016540	protein autoprocessing	IEA	biological process
GO:0016485	protein processing	IEA	biological process
GO:0005791	rough endoplasmic reticulum	IEA	cellular component
GO:0005615	extracellular space	IEA	cellular component
GO:0001822	kidney development	IEA	biological process
GO:0050750	low-density lipoprotein particle receptor binding	IEA	molecular function
GO:0034189	very-low-density lipoprotein particle binding	IEA	molecular function
GO:0030182	neuron differentiation	IEA	biological process
GO:0030169	low-density lipoprotein particle binding	IEA	molecular function
GO:0030134	COPII-coated ER to Golgi transport vesicle	IEA	cellular component
GO:0009267	cellular response to starvation	IEA	biological process
GO:0008203	cholesterol metabolic process	IEA	biological process
GO:0006641	triglyceride metabolic process	IEA	biological process
GO:0001889	liver development	IEA	biological process
GO:0043525	positive regulation of neuron apoptotic process	IEA	biological process
GO:0009267	cellular response to starvation	IEA	biological process
GO:0001889	liver development	IEA	biological process
GO:0005886	plasma membrane	IDA	cellular component
GO:0070326	very-low-density lipoprotein particle receptor binding	IDA	molecular function
GO:0034190	apolipoprotein receptor binding	IDA	molecular function
GO:0050750	low-density lipoprotein particle receptor binding	IPI	molecular function
GO:0005764	lysosome	IDA	cellular component
GO:0010469	regulation of signaling receptor activity	IDA	biological process
GO:0031232	extrinsic component of external side of plasma membrane	IC	cellular component
GO:0048471	perinuclear region of cytoplasm	IDA	cellular component
GO:0001920	negative regulation of receptor recycling	IDA	biological process
GO:0002092	positive regulation of receptor internalization	IDA	biological process
GO:0005770	late endosome	IDA	cellular component
GO:0007041	lysosomal transport	IDA	biological process
GO:0010989	negative regulation of low-density lipoprotein particle clearance	IDA	biological process
GO:0030547	receptor inhibitor activity	IDA	molecular function
GO:0050750	low-density lipoprotein particle receptor binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:1990667	PCSK9-AnxA2 complex	IDA	cellular component
GO:1990666	PCSK9-LDLR complex	IDA	cellular component
GO:0010989	negative regulation of low-density lipoprotein particle clearance	IDA	biological process
GO:0001920	negative regulation of receptor recycling	IDA	biological process
GO:0032805	positive regulation of low-density lipoprotein particle receptor catabolic process	IDA	biological process
GO:1905598	negative regulation of low-density lipoprotein receptor activity	IDA	biological process
GO:2000650	negative regulation of sodium ion transmembrane transporter activity	IDA	biological process
GO:1905601	negative regulation of receptor-mediated endocytosis involved in cholesterol transport	IDA	biological process
GO:1905596	negative regulation of low-density lipoprotein particle receptor binding	IDA	biological process
GO:0005768	endosome	IEA	cellular component
GO:0005764	lysosome	IEA	cellular component
GO:0005576	extracellular region	IEA	cellular component
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0009986	cell surface	IEA	cellular component
GO:2000272	negative regulation of signaling receptor activity	IEA	biological process
GO:0003723	RNA binding	HDA	molecular function

KEGG pathways

Pathway id	Pathway name
hsa04979	Cholesterol metabolism

Diseases

Associated diseases	References
Familial hypercholesterolemia	KEGG:H00155
Familial hypercholesterolemia	KEGG:H00155
Hypobetalipoproteinemia	PMID:16619215
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq