PCSK5

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Proprotein convertase subtilisin/kexin type 5
Identifiers
Symbols PCSK5 ; PC5; PC6; PC6A; SPC6
External IDs OMIM600488 MGI97515 HomoloGene21244 ChEMBL: 2826 GeneCards: PCSK5 Gene
EC number 3.4.21.-
RNA expression pattern
PBB GE PCSK5 205559 s at tn.png
PBB GE PCSK5 205560 at tn.png
PBB GE PCSK5 213652 at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 5125 18552
Ensembl ENSG00000099139 ENSMUSG00000024713
UniProt Q92824 Q04592
RefSeq (mRNA) NM_001190482 NM_001163144
RefSeq (protein) NP_001177411 NP_001156616
Location (UCSC) Chr 9:
78.51 – 78.98 Mb
Chr 19:
17.43 – 17.84 Mb
PubMed search [1] [2]

Proprotein convertase subtilisin/kexin type 5 is an enzyme that in humans is encoded by the PCSK5 gene, found in chromosome 9q21.3[1][2][3] 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. [3]

Clinical significance[edit]

Mutations in this gene have been associated with Currarino syndrome-like malformations.[4]

References[edit]

  1. ^ van de Loo, J-WHP; Creemers JWM; Kas K; Roebroek AJM; Van de Ven WJM (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. Retrieved 7 August 2012. 
  2. ^ Mbikay M, Seidah NG, Chretien 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. 
  3. ^ a b "Entrez Gene: PCSK5 proprotein convertase subtilisin/kexin type 5". 
  4. ^ 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[edit]