Official symbol | PCSK9 |
Gene id | 255738 |
Organism | Homo sapiens |
Official full symbol | proprotein convertase subtilisin/kexin type 9 |
Gene type | protein-coding |
Also known as | FH3, FHCL3, HCHOLA3, LDLCQ1, NARC-1, NARC1, PC9 |
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. |
Genomic regions | Chromosome 1 |
Name | Transcript ID | bp | Protein | Biotype | CCDS | UniProt Match | RefSeq Match | Flags |
PCSK9-201 | ENST00000302118.5 | 3637 | 692aa | Protein coding | CCDS603 | Q8NBP7-1 | NM_174936.4 | TSL:1, GENCODE basic, APPRIS P1, MANE Select v0.92, |
PCSK9-205 | ENST00000673903.1 | 3194 | 567aa | Protein coding | - | A0A669KBG0 | - | GENCODE basic, |
PCSK9-204 | ENST00000673726.1 | 1204 | 204aa | Nonsense mediated decay | - | A0A669KAY4 | - | - |
PCSK9-206 | ENST00000673913.1 | 873 | 169aa | Nonsense mediated decay | - | A0A669KB81 | - | CDS 5' incomplete, |
PCSK9-203 | ENST00000673662.1 | 603 | No protein | Processed transcript | - | - | - | - |
PCSK9-202 | ENST00000490692.1 | 3891 | No protein | Retained intron | - | - | - | TSL:2, |
Target Gene | PCSK9 |
This KO Strategy | loading |
Red Cotton™ Notes | Gene PCSK9 had been KO in hela cell line. |
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