PCSK5

Proprotein convertase subtilisin/kexin type 5 is an enzyme that in humans is encoded by the PCSK5 gene, found in chromosome 9q21.3^[5][6][7] Two alternatively spliced transcripts are described for this gene but only one has its full length nature known.

PCSK5
Identifiers
Aliases	PCSK5, PC5, PC6, PC6A, SPC6, proprotein convertase subtilisin/kexin type 5
External IDs	OMIM: 600488; MGI: 97515; HomoloGene: 21244; GeneCards: PCSK5; OMA:PCSK5 - orthologs
Gene location (Human) Chr. Chromosome 9 (human)[1] Band 9q21.13 Start 75,890,644 bp[1] End 76,362,975 bp[1]
Gene location (Mouse) Chr. Chromosome 19 (mouse)[2] Band 19 B|19 12.86 cM Start 17,409,683 bp[2] End 17,814,996 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in buccal mucosa cell saphenous vein sural nerve pericardium pancreatic ductal cell secondary oocyte visceral pleura mucosa of paranasal sinus duodenum parietal pleura Top expressed in external carotid artery internal carotid artery gastrula Paneth cell vas deferens lumbar spinal ganglion adrenal gland Gonadal ridge body of femur vestibular sensory epithelium More reference expression data BioGPS More reference expression data
Gene ontology Molecular function serine-type endopeptidase activity peptidase activity hydrolase activity serine-type peptidase activity peptide binding protein binding endopeptidase activity Cellular component integral component of membrane endomembrane system Golgi lumen membrane secretory granule Golgi apparatus extracellular region extracellular space trans-Golgi network integral component of Golgi membrane Biological process viral life cycle proteolysis female pregnancy cell-cell signaling coronary vasculature development renin secretion into blood stream heart development cardiac septum development determination of left/right symmetry protein processing signal peptide processing limb morphogenesis respiratory tube development peptide biosynthetic process embryo implantation peptide hormone processing kidney development embryonic skeletal system development embryonic digestive tract development anterior/posterior pattern specification regulation of lipoprotein lipase activity nerve growth factor processing Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 5125 18552 Ensembl ENSG00000099139 ENSMUSG00000024713 UniProt Q92824 Q04592 RefSeq (mRNA) NM_001190482 NM_006200 NM_001372043 NM_001163144 NM_001190483 RefSeq (protein) NP_001177411 NP_006191 NP_001358972 NP_001156616 NP_001177412 Location (UCSC) Chr 9: 75.89 – 76.36 Mb Chr 19: 17.41 – 17.81 Mb PubMed search [3] [4]
Wikidata
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Function

The protein encoded by this gene belongs to the subtilisin-like proprotein convertase family. The members of this family are proprotein convertases that process latent precursor proteins into their biologically active products. This encoded protein mediates posttranslational endoproteolytic processing for several integrin alpha subunits. It is thought to process prorenin, pro-membrane type-1 matrix metalloproteinase and HIV-1 glycoprotein gp160.^[7]

Clinical significance

Mutations in this gene have been associated with Currarino syndrome-like malformations.^[8]

PCSK5 expression has been linked to higher survival rates for lung cancer patients.^[9]