PCSK5: Difference between revisions

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{{Infobox_gene}}
{{PBB_Controls
'''Proprotein convertase subtilisin/kexin type 5''' is an [[enzyme]] that in humans is encoded by the ''PCSK5'' [[gene]], found in chromosome 9q21.3<ref name=Loo>{{cite journal | vauthors = van de Loo JW, Creemers JW, Kas K, Roebroek AJ, Van de Ven WJ | title = Assignment of the human proprotein convertase gene PCSK5 to chromosome 9q21.3 | journal = Cytogenetic and Genome Research | volume = 75 | issue = 4 | pages = 227–229 | year = 1996 | pmid = 9067430 | doi = 10.1159/000134489 | url = http://content.karger.com/ProdukteDB/produkte.asp?Aktion=ShowPDF&ArtikelNr=134489&ProduktNr=236113&filename=134489.pdf | accessdate = 7 August 2012 }}</ref><ref name="pmid7782070">{{cite journal | vauthors = Mbikay M, Seidah NG, Chrétien M, Simpson EM | title = Chromosomal assignment of the genes for proprotein convertases PC4, PC5, and PACE 4 in mouse and human | journal = Genomics | volume = 26 | issue = 1 | pages = 123–9 | date = Jul 1995 | pmid = 7782070 | pmc =  | doi = 10.1016/0888-7543(95)80090-9 }}</ref><ref name="entrez">{{cite web | title = Entrez Gene: PCSK5 proprotein convertase subtilisin/kexin type 5| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=5125| accessdate = }}</ref>  Two alternatively spliced transcripts are described for this gene but only one has its full length nature known.
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<!-- The GNF_Protein_box is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
== Function ==
{{GNF_Protein_box
| image =
| image_source =
| PDB =
| Name = Proprotein convertase subtilisin/kexin type 5
| HGNCid = 8747
| Symbol = PCSK5
| AltSymbols =; PC5; PC6; PC6A; SPC6
| OMIM = 600488
| ECnumber = 
| Homologene = 21244
| MGIid = 97515
| GeneAtlas_image1 = PBB_GE_PCSK5_205559_s_at_tn.png
| GeneAtlas_image2 = PBB_GE_PCSK5_205560_at_tn.png
| GeneAtlas_image3 = PBB_GE_PCSK5_213652_at_tn.png
| Function = {{GNF_GO|id=GO:0004289 |text = subtilase activity}} {{GNF_GO|id=GO:0008233 |text = peptidase activity}}
| Component = {{GNF_GO|id=GO:0005615 |text = extracellular space}} {{GNF_GO|id=GO:0005794 |text = Golgi apparatus}}
| Process = {{GNF_GO|id=GO:0006465 |text = signal peptide processing}} {{GNF_GO|id=GO:0006508 |text = proteolysis}} {{GNF_GO|id=GO:0007267 |text = cell-cell signaling}}
| Orthologs = {{GNF_Ortholog_box
    | Hs_EntrezGene = 5125
    | Hs_Ensembl = ENSG00000099139
    | Hs_RefseqProtein = NP_006191
    | Hs_RefseqmRNA = NM_006200
    | Hs_GenLoc_db = 
    | Hs_GenLoc_chr = 9
    | Hs_GenLoc_start = 77695406
    | Hs_GenLoc_end = 78163658
    | Hs_Uniprot = Q92824
    | Mm_EntrezGene = 18552
    | Mm_Ensembl = ENSMUSG00000024713
    | Mm_RefseqmRNA = XM_129214
    | Mm_RefseqProtein = XP_129214
    | Mm_GenLoc_db = 
    | Mm_GenLoc_chr = 19
    | Mm_GenLoc_start = 17500412
    | Mm_GenLoc_end = 17904271
    | Mm_Uniprot = Q04592
  }}
}}
'''Proprotein convertase subtilisin/kexin type 5''', also known as '''PCSK5''', is a human [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: PCSK5 proprotein convertase subtilisin/kexin type 5| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=5125| accessdate = }}</ref>


<!-- The PBB_Summary template is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
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]].<ref name="entrez" />
{{PBB_Summary
| section_title =
| summary_text = 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. Two alternatively spliced transcripts are described for this gene but only one has its full length nature known.<ref name="entrez">{{cite web | title = Entrez Gene: PCSK5 proprotein convertase subtilisin/kexin type 5| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=5125| accessdate = }}</ref>
}}


==References==
== Clinical significance ==
{{reflist|2}}
 
==Further reading==
Mutations in this gene have been associated with [[Currarino syndrome]]-like malformations.<ref name="pmid18519639">{{cite journal | vauthors = 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 | title = VACTERL/caudal regression/Currarino syndrome-like malformations in mice with mutation in the proprotein convertase Pcsk5 | journal = Genes Dev. | volume = 22 | issue = 11 | pages = 1465–77 | date = June 2008 | pmid = 18519639 | pmc = 2418583 | doi = 10.1101/gad.479408 }}</ref>
 
== References ==
{{reflist}}
 
== Further reading ==
{{refbegin | 2}}
{{refbegin | 2}}
{{PBB_Further_reading
* {{cite journal | vauthors = Bassi DE, Mahloogi H, Klein-Szanto AJ | title = The proprotein convertases furin and PACE4 play a significant role in tumor progression | journal = Mol. Carcinog. | volume = 28 | issue = 2 | pages = 63–9 | year = 2000 | pmid = 10900462 | doi = 10.1002/1098-2744(200006)28:2<63::AID-MC1>3.0.CO;2-C }}
| citations =
* {{cite journal | vauthors = Moulard M, Decroly E | title = Maturation of HIV envelope glycoprotein precursors by cellular endoproteases | journal = Biochim. Biophys. Acta | volume = 1469 | issue = 3 | pages = 121–32 | year = 2001 | pmid = 11063880 | doi = 10.1016/S0304-4157(00)00014-9 }}
*{{cite journal | author=Bassi DE, Mahloogi H, Klein-Szanto AJ |title=The proprotein convertases furin and PACE4 play a significant role in tumor progression. |journal=Mol. Carcinog. |volume=28 |issue= 2 |pages= 63-9 |year= 2000 |pmid= 10900462 |doi= }}
* {{cite journal | vauthors = Maruyama K, Sugano S | title = Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides | journal = Gene | volume = 138 | issue = 1–2 | pages = 171–4 | year = 1994 | pmid = 8125298 | doi = 10.1016/0378-1119(94)90802-8 }}
*{{cite journal | author=Moulard M, Decroly E |title=Maturation of HIV envelope glycoprotein precursors by cellular endoproteases. |journal=Biochim. Biophys. Acta |volume=1469 |issue= 3 |pages= 121-32 |year= 2001 |pmid= 11063880 |doi= }}
* {{cite journal | vauthors = Campan M, Yoshizumi M, Seidah NG, Lee ME, Bianchi C, Haber E | title = Increased proteolytic processing of protein tyrosine phosphatase mu in confluent vascular endothelial cells: the role of PC5, a member of the subtilisin family | journal = Biochemistry | volume = 35 | issue = 12 | pages = 3797–802 | year = 1996 | pmid = 8620001 | doi = 10.1021/bi952552d }}
*{{cite journal  | author=Mbikay M, Seidah NG, Chrétien M, Simpson EM |title=Chromosomal assignment of the genes for proprotein convertases PC4, PC5, and PACE 4 in mouse and human. |journal=Genomics |volume=26 |issue= 1 |pages= 123-9 |year= 1995 |pmid= 7782070 |doi=  }}
* {{cite journal | vauthors = Vollenweider F, Benjannet S, Decroly E, Savaria D, Lazure C, Thomas G, Chrétien M, Seidah NG | title = Comparative cellular processing of the human immunodeficiency virus (HIV-1) envelope glycoprotein gp160 by the mammalian subtilisin/kexin-like convertases | journal = Biochem. J. | volume = 314 | issue = Pt 2 | pages = 521–32 | year = 1996 | pmid = 8670066 | pmc = 1217081 | doi =  }}
*{{cite journal | author=Maruyama K, Sugano S |title=Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides. |journal=Gene |volume=138 |issue= 1-2 |pages= 171-4 |year= 1994 |pmid= 8125298 |doi= }}
* {{cite journal | vauthors = Miranda L, Wolf J, Pichuantes S, Duke R, Franzusoff A | title = Isolation of the human PC6 gene encoding the putative host protease for HIV-1 gp160 processing in CD4+ T lymphocytes | journal = Proc. Natl. Acad. Sci. U.S.A. | volume = 93 | issue = 15 | pages = 7695–700 | year = 1996 | pmid = 8755538 | pmc = 38809 | doi = 10.1073/pnas.93.15.7695 }}
*{{cite journal | author=Campan M, Yoshizumi M, Seidah NG, ''et al.'' |title=Increased proteolytic processing of protein tyrosine phosphatase mu in confluent vascular endothelial cells: the role of PC5, a member of the subtilisin family. |journal=Biochemistry |volume=35 |issue= 12 |pages= 3797-802 |year= 1996 |pmid= 8620001 |doi= 10.1021/bi952552d }}
* {{cite journal | vauthors = Nachtigal MW, Ingraham HA | title = Bioactivation of Müllerian inhibiting substance during gonadal development by a kex2/subtilisin-like endoprotease | journal = Proc. Natl. Acad. Sci. U.S.A. | volume = 93 | issue = 15 | pages = 7711–6 | year = 1996 | pmid = 8755541 | pmc = 38812 | doi = 10.1073/pnas.93.15.7711 }}
*{{cite journal | author=Vollenweider F, Benjannet S, Decroly E, ''et al.'' |title=Comparative cellular processing of the human immunodeficiency virus (HIV-1) envelope glycoprotein gp160 by the mammalian subtilisin/kexin-like convertases. |journal=Biochem. J. |volume=314 ( Pt 2) |issue= |pages= 521-32 |year= 1996 |pmid= 8670066 |doi=  }}
* {{cite journal | vauthors = Mercure C, Jutras I, Day R, Seidah NG, Reudelhuber TL | title = Prohormone convertase PC5 is a candidate processing enzyme for prorenin in the human adrenal cortex | journal = Hypertension | volume = 28 | issue = 5 | pages = 840–6 | year = 1996 | pmid = 8901832 | doi = 10.1161/01.hyp.28.5.840 }}
*{{cite journal | author=Miranda L, Wolf J, Pichuantes S, ''et al.'' |title=Isolation of the human PC6 gene encoding the putative host protease for HIV-1 gp160 processing in CD4+ T lymphocytes. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=93 |issue= 15 |pages= 7695-700 |year= 1996 |pmid= 8755538 |doi= }}
* {{cite journal | vauthors = De Bie I, Marcinkiewicz M, Malide D, Lazure C, Nakayama K, Bendayan M, Seidah NG | title = The isoforms of proprotein convertase PC5 are sorted to different subcellular compartments | journal = J. Cell Biol. | volume = 135 | issue = 5 | pages = 1261–75 | year = 1997 | pmid = 8947550 | pmc = 2121096 | doi = 10.1083/jcb.135.5.1261 }}
*{{cite journal | author=Nachtigal MW, Ingraham HA |title=Bioactivation of Müllerian inhibiting substance during gonadal development by a kex2/subtilisin-like endoprotease. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=93 |issue= 15 |pages= 7711-6 |year= 1996 |pmid= 8755541 |doi= }}
* {{cite journal | vauthors = van de Loo JW, Creemers JW, Kas K, Roebroek AJ, Van de Ven WJ | title = Assignment of the human proprotein convertase gene PCSK5 to chromosome 9q21.3 | journal = Cytogenet. Cell Genet. | volume = 75 | issue = 4 | pages = 227–9 | year = 1997 | pmid = 9067430 | doi = 10.1159/000134489 }}
*{{cite journal | author=Mercure C, Jutras I, Day R, ''et al.'' |title=Prohormone convertase PC5 is a candidate processing enzyme for prorenin in the human adrenal cortex. |journal=Hypertension |volume=28 |issue= 5 |pages= 840-6 |year= 1996 |pmid= 8901832 |doi= }}
* {{cite journal | vauthors = Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, Suyama A, Sugano S | title = Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library | journal = Gene | volume = 200 | issue = 1–2 | pages = 149–56 | year = 1997 | pmid = 9373149 | doi = 10.1016/S0378-1119(97)00411-3 }}
*{{cite journal | author=De Bie I, Marcinkiewicz M, Malide D, ''et al.'' |title=The isoforms of proprotein convertase PC5 are sorted to different subcellular compartments. |journal=J. Cell Biol. |volume=135 |issue= 5 |pages= 1261-75 |year= 1997 |pmid= 8947550 |doi= }}
* {{cite journal | vauthors = Moulard M, Chaloin L, Canarelli S, Mabrouk K, Darbon H, Challoin L | title = Retroviral envelope glycoprotein processing: structural investigation of the cleavage site | journal = Biochemistry | volume = 37 | issue = 13 | pages = 4510–7 | year = 1998 | pmid = 9521771 | doi = 10.1021/bi972662f }}
*{{cite journal | author=van de Loo JW, Creemers JW, Kas K, ''et al.'' |title=Assignment of the human proprotein convertase gene PCSK5 to chromosome 9q21.3. |journal=Cytogenet. Cell Genet. |volume=75 |issue= 4 |pages= 227-9 |year= 1997 |pmid= 9067430 |doi= }}
* {{cite journal | vauthors = Lissitzky JC, Luis J, Munzer JS, Benjannet S, Parat F, Chrétien M, Marvaldi J, Seidah NG | title = 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 | journal = Biochem. J. | volume = 346 Pt 1 | issue = Pt 1 | pages = 133–8 | year = 2000 | pmid = 10657249 | pmc = 1220832 | doi = 10.1042/0264-6021:3460133 }}
*{{cite journal | author=Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, ''et al.'' |title=Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library. |journal=Gene |volume=200 |issue= 1-2 |pages= 149-56 |year= 1997 |pmid= 9373149 |doi= }}
* {{cite journal | vauthors = Yana I, Weiss SJ | title = Regulation of Membrane Type-1 Matrix Metalloproteinase Activation by Proprotein Convertases | journal = Mol. Biol. Cell | volume = 11 | issue = 7 | pages = 2387–401 | year = 2000 | pmid = 10888676 | pmc = 14927 | doi = 10.1091/mbc.11.7.2387 }}
*{{cite journal | author=Moulard M, Chaloin L, Canarelli S, ''et al.'' |title=Retroviral envelope glycoprotein processing: structural investigation of the cleavage site. |journal=Biochemistry |volume=37 |issue= 13 |pages= 4510-7 |year= 1998 |pmid= 9521771 |doi= 10.1021/bi972662f }}
* {{cite journal | vauthors = Hartley JL, Temple GF, Brasch MA | title = DNA Cloning Using In Vitro Site-Specific Recombination | journal = Genome Res. | volume = 10 | issue = 11 | pages = 1788–95 | year = 2001 | pmid = 11076863 | pmc = 310948 | doi = 10.1101/gr.143000 }}
*{{cite journal | author=Lissitzky JC, Luis J, Munzer JS, ''et al.'' |title=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. |journal=Biochem. J. |volume=346 Pt 1 |issue= |pages= 133-8 |year= 2000 |pmid= 10657249 |doi= }}
* {{cite journal | vauthors = Simpson JC, Wellenreuther R, Poustka A, Pepperkok R, Wiemann S | title = Systematic subcellular localization of novel proteins identified by large-scale cDNA sequencing | journal = EMBO Rep. | volume = 1 | issue = 3 | pages = 287–92 | year = 2001 | pmid = 11256614 | pmc = 1083732 | doi = 10.1093/embo-reports/kvd058 }}
*{{cite journal | author=Yana I, Weiss SJ |title=Regulation of membrane type-1 matrix metalloproteinase activation by proprotein convertases. |journal=Mol. Biol. Cell |volume=11 |issue= 7 |pages= 2387-401 |year= 2000 |pmid= 10888676 |doi= }}
*{{cite journal | author=Hartley JL, Temple GF, Brasch MA |title=DNA cloning using in vitro site-specific recombination. |journal=Genome Res. |volume=10 |issue= 11 |pages= 1788-95 |year= 2001 |pmid= 11076863 |doi=  }}
*{{cite journal  | author=Wiemann S, Weil B, Wellenreuther R, ''et al.'' |title=Toward a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs. |journal=Genome Res. |volume=11 |issue= 3 |pages= 422-35 |year= 2001 |pmid= 11230166 |doi= 10.1101/gr.154701 }}
*{{cite journal | author=Simpson JC, Wellenreuther R, Poustka A, ''et al.'' |title=Systematic subcellular localization of novel proteins identified by large-scale cDNA sequencing. |journal=EMBO Rep. |volume=1 |issue= 3 |pages= 287-92 |year= 2001 |pmid= 11256614 |doi= 10.1093/embo-reports/kvd058 }}
}}
{{refend}}
{{refend}}


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Latest revision as of 17:46, 7 September 2017

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Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez

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Ensembl

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UniProt

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RefSeq (mRNA)

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RefSeq (protein)

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Location (UCSC)n/an/a
PubMed searchn/an/a
Wikidata
View/Edit Human

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

  1. ↑ 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.
  2. ↑ 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.
  3. ↑ 3.0 3.1 "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


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