PCSK5
Identifiers
AliasesPCSK5, PC5, PC6, PC6A, SPC6, proprotein convertase subtilisin/kexin type 5
External IDsOMIM: 600488 MGI: 97515 HomoloGene: 21244 GeneCards: PCSK5
Orthologs
SpeciesHumanMouse
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 MbChr 19: 17.41 – 17.81 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/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

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]

References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000099139 - Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000024713 - Ensembl, May 2017
  3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  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". Cytogenetic and Genome Research. 75 (4): 227–229. doi:10.1159/000134489. PMID 9067430.
  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. 1 2 "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 2418583. PMID 18519639.

Further reading


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