PCSK5

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PCSK5
Identifiers
Aliases PCSK5, PC5, PC6, PC6A, SPC6, proprotein convertase subtilisin/kexin type 5
External IDs MGI: 97515 HomoloGene: 21244 GeneCards: PCSK5
Gene location (Human)
Chromosome 9 (human)
Chr. Chromosome 9 (human)[1]
Chromosome 9 (human)
Genomic location for PCSK5
Genomic location for PCSK5
Band 9q21.13 Start 75,890,644 bp[1]
End 76,362,339 bp[1]
RNA expression pattern
PBB GE PCSK5 213652 at fs.png

PBB GE PCSK5 205559 s at fs.png

PBB GE PCSK5 205560 at fs.png
More reference expression data
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001190482
NM_006200

NM_001163144
NM_001190483

RefSeq (protein)

NP_001177411
NP_006191

NP_001156616
NP_001177412

Location (UCSC) Chr 9: 75.89 – 76.36 Mb Chr 19: 17.43 – 17.84 Mb
PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

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.

Function[edit]

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[edit]

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

References[edit]

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000099139 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000024713 - Ensembl, May 2017
  3. ^ "Human PubMed Reference:". 
  4. ^ "Mouse PubMed Reference:". 
  5. ^ van de Loo JW, Creemers JW, Kas K, Roebroek AJ, Van de Ven WJ (1996). "Assignment of the human proprotein convertase gene PCSK5 to chromosome 9q21.3" (PDF). Cytogenetic and Genome Research. 75 (4): 227–229. doi:10.1159/000134489. PMID 9067430. Retrieved 7 August 2012. 
  6. ^ Mbikay M, Seidah NG, Chrétien M, Simpson EM (Jul 1995). "Chromosomal assignment of the genes for proprotein convertases PC4, PC5, and PACE 4 in mouse and human". Genomics. 26 (1): 123–9. doi:10.1016/0888-7543(95)80090-9. PMID 7782070. 
  7. ^ a b "Entrez Gene: PCSK5 proprotein convertase subtilisin/kexin type 5". 
  8. ^ Szumska D, Pieles G, Essalmani R, Bilski M, Mesnard D, Kaur K, Franklyn A, El Omari K, Jefferis J, Bentham J, Taylor JM, Schneider JE, Arnold SJ, Johnson P, Tymowska-Lalanne Z, Stammers D, Clarke K, Neubauer S, Morris A, Brown SD, Shaw-Smith C, Cama A, Capra V, Ragoussis J, Constam D, Seidah NG, Prat A, Bhattacharya S (June 2008). "VACTERL/caudal regression/Currarino syndrome-like malformations in mice with mutation in the proprotein convertase Pcsk5". Genes Dev. 22 (11): 1465–77. doi:10.1101/gad.479408. PMC 2418583Freely accessible. PMID 18519639. 

Further reading[edit]