PCSK5

From Wikipedia, the free encyclopedia

Proprotein convertase subtilisin/kexin type 5

Identifiers

Symbols

PCSK5; PC5; PC6; PC6A; SPC6

External IDs

OMIM: 600488 MGI: 97515 HomoloGene: 21244 ChEMBL: 2826 GeneCards: PCSK5 Gene

EC number

3.4.21.-

Gene Ontology
Molecular function	• serine-type endopeptidase activity • peptide binding
Cellular component	• extracellular space • Golgi apparatus • Golgi lumen • endomembrane system • integral to membrane • secretory granule
Biological process	• kidney development • renin secretion into blood stream • signal peptide processing • proteolysis • cell-cell signaling • heart development • embryo implantation • anterior/posterior pattern specification • protein processing • peptide hormone processing • viral assembly, maturation, egress, and release • respiratory tube development • nerve growth factor processing • limb morphogenesis • cytokine biosynthetic process • peptide biosynthetic process • neurotrophin TRK receptor signaling pathway • embryonic digestive tract development • embryonic skeletal system development
Sources: Amigo / QuickGO

RNA expression pattern

More reference expression data

Orthologs

Species

Human

Mouse

RefSeq (mRNA)

RefSeq (protein)

Location (UCSC)

Chr 9:
78.51 – 78.98 Mb

Chr 19:
17.43 – 17.84 Mb

PubMed search

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

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

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

References

↑ 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. Cite uses deprecated parameters (help)
↑ 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.
↑ 3.0 3.1 "Entrez Gene: PCSK5 proprotein convertase subtilisin/kexin type 5".
↑ 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.

Bassi DE, Mahloogi H, Klein-Szanto AJ (2000). "The proprotein convertases furin and PACE4 play a significant role in tumor progression". Mol. Carcinog. 28 (2): 63–9. doi:10.1002/1098-2744(200006)28:2<63::AID-MC1>3.0.CO;2-C. PMID 10900462.
Moulard M, Decroly E (2001). "Maturation of HIV envelope glycoprotein precursors by cellular endoproteases". Biochim. Biophys. Acta 1469 (3): 121–32. doi:10.1016/S0304-4157(00)00014-9. PMID 11063880.
Maruyama K, Sugano S (1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides". Gene 138 (1–2): 171–4. doi:10.1016/0378-1119(94)90802-8. PMID 8125298.
Campan M, Yoshizumi M, Seidah NG et al. (1996). "Increased proteolytic processing of protein tyrosine phosphatase mu in confluent vascular endothelial cells: the role of PC5, a member of the subtilisin family". Biochemistry 35 (12): 3797–802. doi:10.1021/bi952552d. PMID 8620001.
Vollenweider F, Benjannet S, Decroly E et al. (1996). "Comparative cellular processing of the human immunodeficiency virus (HIV-1) envelope glycoprotein gp160 by the mammalian subtilisin/kexin-like convertases". Biochem. J. 314 (Pt 2): 521–32. PMC 1217081. PMID 8670066.
Miranda L, Wolf J, Pichuantes S et al. (1996). "Isolation of the human PC6 gene encoding the putative host protease for HIV-1 gp160 processing in CD4+ T lymphocytes". Proc. Natl. Acad. Sci. U.S.A. 93 (15): 7695–700. doi:10.1073/pnas.93.15.7695. PMC 38809. PMID 8755538.
Nachtigal MW, Ingraham HA (1996). "Bioactivation of Müllerian inhibiting substance during gonadal development by a kex2/subtilisin-like endoprotease". Proc. Natl. Acad. Sci. U.S.A. 93 (15): 7711–6. doi:10.1073/pnas.93.15.7711. PMC 38812. PMID 8755541.
Mercure C, Jutras I, Day R et al. (1996). "Prohormone convertase PC5 is a candidate processing enzyme for prorenin in the human adrenal cortex". Hypertension 28 (5): 840–6. PMID 8901832.
De Bie I, Marcinkiewicz M, Malide D et al. (1997). "The isoforms of proprotein convertase PC5 are sorted to different subcellular compartments". J. Cell Biol. 135 (5): 1261–75. doi:10.1083/jcb.135.5.1261. PMC 2121096. PMID 8947550.
van de Loo JW (1997). "Assignment of the human proprotein convertase gene PCSK5 to chromosome 9q21.3". Cytogenet. Cell Genet. 75 (4): 227–9. doi:10.1159/000134489. PMID 9067430.
Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K et al. (1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library". Gene 200 (1–2): 149–56. doi:10.1016/S0378-1119(97)00411-3. PMID 9373149.
Moulard M, Chaloin L, Canarelli S et al. (1998). "Retroviral envelope glycoprotein processing: structural investigation of the cleavage site". Biochemistry 37 (13): 4510–7. doi:10.1021/bi972662f. PMID 9521771.
Lissitzky JC, Luis J, Munzer JS et al. (2000). "Endoproteolytic processing of integrin pro-alpha subunits involves the redundant function of furin and proprotein convertase (PC) 5A, but not paired basic amino acid converting enzyme (PACE) 4, PC5B or PC7". Biochem. J. 346 Pt 1 (Pt 1): 133–8. doi:10.1042/0264-6021:3460133. PMC 1220832. PMID 10657249.
Yana I, Weiss SJ (2000). "Regulation of Membrane Type-1 Matrix Metalloproteinase Activation by Proprotein Convertases". Mol. Biol. Cell 11 (7): 2387–401. PMC 14927. PMID 10888676.
Hartley JL, Temple GF, Brasch MA (2001). "DNA Cloning Using In Vitro Site-Specific Recombination". Genome Res. 10 (11): 1788–95. doi:10.1101/gr.143000. PMC 310948. PMID 11076863.
Wiemann S, Weil B, Wellenreuther R et al. (2001). "Toward a Catalog of Human Genes and Proteins: Sequencing and Analysis of 500 Novel Complete Protein Coding Human cDNAs". Genome Res. 11 (3): 422–35. doi:10.1101/gr.GR1547R. PMC 311072. PMID 11230166.
Simpson JC, Wellenreuther R, Poustka A et al. (2001). "Systematic subcellular localization of novel proteins identified by large-scale cDNA sequencing". EMBO Rep. 1 (3): 287–92. doi:10.1093/embo-reports/kvd058. PMC 1083732. PMID 11256614.

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PCSK5

Function

Clinical significance

References

Further reading