COL5A2
Kolagenski lanac alfa-2(V) jest protein koji je kod ljudi kodiran genom COL5A2 sa hromosoma 2.[5][6]
Amiokiselininska sekvenca
[uredi | uredi izvor]Dužina polipeptidnog lanca je 1 499 aminokiselina, a molekulska težina 144.910 Da.[7]
| 10 | 20 | 30 | 40 | 50 | ||||
|---|---|---|---|---|---|---|---|---|
| MMANWAEARP | LLILIVLLGQ | FVSIKAQEED | EDEGYGEEIA | CTQNGQMYLN | ||||
| RDIWKPAPCQ | ICVCDNGAIL | CDKIECQDVL | DCADPVTPPG | ECCPVCSQTP | ||||
| GGGNTNFGRG | RKGQKGEPGL | VPVVTGIRGR | PGPAGPPGSQ | GPRGERGPKG | ||||
| RPGPRGPQGI | DGEPGVPGQP | GAPGPPGHPS | HPGPDGLSRP | FSAQMAGLDE | ||||
| KSGLGSQVGL | MPGSVGPVGP | RGPQGLQGQQ | GGAGPTGPPG | EPGDPGPMGP | ||||
| IGSRGPEGPP | GKPGEDGEPG | RNGNPGEVGF | AGSPGARGFP | GAPGLPGLKG | ||||
| HRGHKGLEGP | KGEVGAPGSK | GEAGPTGPMG | AMGPLGPRGM | PGERGRLGPQ | ||||
| GAPGQRGAHG | MPGKPGPMGP | LGIPGSSGFP | GNPGMKGEAG | PTGARGPEGP | ||||
| QGQRGETGPP | GPVGSPGLPG | AIGTDGTPGA | KGPTGSPGTS | GPPGSAGPPG | ||||
| SPGPQGSTGP | QGIRGQPGDP | GVPGFKGEAG | PKGEPGPHGI | QGPIGPPGEE | ||||
| GKRGPRGDPG | TVGPPGPVGE | RGAPGNRGFP | GSDGLPGPKG | AQGERGPVGS | ||||
| SGPKGSQGDP | GRPGEPGLPG | ARGLTGNPGV | QGPEGKLGPL | GAPGEDGRPG | ||||
| PPGSIGIRGQ | PGSMGLPGPK | GSSGDPGKPG | EAGNAGVPGQ | RGAPGKDGEV | ||||
| GPSGPVGPPG | LAGERGEQGP | PGPTGFQGLP | GPPGPPGEGG | KPGDQGVPGD | ||||
| PGAVGPLGPR | GERGNPGERG | EPGITGLPGE | KGMAGGHGPD | GPKGSPGPSG | ||||
| TPGDTGPPGL | QGMPGERGIA | GTPGPKGDRG | GIGEKGAEGT | AGNDGARGLP | ||||
| GPLGPPGPAG | PTGEKGEPGP | RGLVGPPGSR | GNPGSRGENG | PTGAVGFAGP | ||||
| QGPDGQPGVK | GEPGEPGQKG | DAGSPGPQGL | AGSPGPHGPN | GVPGLKGGRG | ||||
| TQGPPGATGF | PGSAGRVGPP | GPAGAPGPAG | PLGEPGKEGP | PGLRGDPGSH | ||||
| GRVGDRGPAG | PPGGPGDKGD | PGEDGQPGPD | GPPGPAGTTG | QRGIVGMPGQ | ||||
| RGERGMPGLP | GPAGTPGKVG | PTGATGDKGP | PGPVGPPGSN | GPVGEPGPEG | ||||
| PAGNDGTPGR | DGAVGERGDR | GDPGPAGLPG | SQGAPGTPGP | VGAPGDAGQR | ||||
| GDPGSRGPIG | PPGRAGKRGL | PGPQGPRGDK | GDHGDRGDRG | QKGHRGFTGL | ||||
| QGLPGPPGPN | GEQGSAGIPG | PFGPRGPPGP | VGPSGKEGNP | GPLGPIGPPG | ||||
| VRGSVGEAGP | EGPPGEPGPP | GPPGPPGHLT | AALGDIMGHY | DESMPDPLPE | ||||
| FTEDQAAPDD | KNKTDPGVHA | TLKSLSSQIE | TMRSPDGSKK | HPARTCDDLK | ||||
| LCHSAKQSGE | YWIDPNQGSV | EDAIKVYCNM | ETGETCISAN | PSSVPRKTWW | ||||
| ASKSPDNKPV | WYGLDMNRGS | QFAYGDHQSP | NTAITQMTFL | RLLSKEASQN | ||||
| ITYICKNSVG | YMDDQAKNLK | KAVVLKGAND | LDIKAEGNIR | FRYIVLQDTC | ||||
| SKRNGNVGKT | VFEYRTQNVA | RLPIIDLAPV | DVGGTDQEFG | VEIGPVCFV |
Funkcija
[uredi | uredi izvor]Ovaj gen kodira alfa lanac za jedan od vlaknastih kolagena male količine. Vlaknaste molekule kolagena su trimeri koji se mogu sastojati od jedog ili više tipova alfa lanaca. Kolagen tipa V nalazi se u tkivima koja sadrže kolagen tipa I i izgleda da regulira sklapanje heterotipskih vlakana sastavljenih od kolagena tipa I i tipa V. Ovaj genski proizvod je usko povezan sa kolagenom tipa XI i moguće je da lanci kolagena tipova V i XI čine jedan tip kolagena sa kombinacijama lanaca specifičnih za tkivo. Mutacije u ovom genu povezane su sa Ehlers-Danlosovim sindromom, klasični tip, ranije poznatim kao tipovi I i II.[6]
Također pogledajte
[uredi | uredi izvor]Reference
[uredi | uredi izvor]- ^ a b c GRCh38: Ensembl release 89: ENSG00000204262 - Ensembl, maj 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000026042 - Ensembl, maj 2017
- ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ Greenspan DS, Byers MG, Eddy RL, Cheng W, Jani-Sait S, Shows TB (maj 1992). "Human collagen gene COL5A1 maps to the q34.2----q34.3 region of chromosome 9, near the locus for nail-patella syndrome". Genomics. 12 (4): 836–7. doi:10.1016/0888-7543(92)90320-R. PMID 1572660.
- ^ a b "Entrez Gene: COL5A2 collagen, type V, alpha 2".
- ^ "UniProt, P05997" (jezik: engleski). Pristupljeno 16. 11. 2021.
Dopunska literatura
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- Greenspan DS, Lee ST, Lee BS, Hoffman GG (1992). "Homology between alpha 2(V) and alpha 1(III) collagen promoters and evidence for negatively acting elements in the alpha 2(V) first intron and 5' flanking sequences". Gene Expr. 1 (1): 29–39. PMC 5952197. PMID 1820205.
- Myers JC, Loidl HR, Seyer JM, Dion AS (1985). "Complete primary structure of the human alpha 2 type V procollagen COOH-terminal propeptide". J. Biol. Chem. 260 (20): 11216–22. doi:10.1016/S0021-9258(17)39168-8. PMID 2411731.
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- Michalickova K, Susic M, Willing MC, et al. (1998). "Mutations of the alpha2(V) chain of type V collagen impair matrix assembly and produce ehlers-danlos syndrome type I". Hum. Mol. Genet. 7 (2): 249–55. doi:10.1093/hmg/7.2.249. PMID 9425231.
- Bertelli R, Valenti F, Oleggini R, et al. (1998). "Cell-specific regulation of alpha1(III) and alpha2(V) collagen by TGF-beta1 in tubulointerstitial cell models". Nephrol. Dial. Transplant. 13 (3): 573–9. doi:10.1093/ndt/13.3.573. PMID 9550630.
- Shrivastava A, Radziejewski C, Campbell E, et al. (1998). "An orphan receptor tyrosine kinase family whose members serve as nonintegrin collagen receptors". Mol. Cell. 1 (1): 25–34. doi:10.1016/S1097-2765(00)80004-0. PMID 9659900.
- Richards AJ, Martin S, Nicholls AC, et al. (1999). "A single base mutation in COL5A2 causes Ehlers-Danlos syndrome type II". J. Med. Genet. 35 (10): 846–8. doi:10.1136/jmg.35.10.846. PMC 1051462. PMID 9783710.
- Wenstrup RJ, Florer JB, Willing MC, et al. (2001). "COL5A1 haploinsufficiency is a common molecular mechanism underlying the classical form of EDS". Am. J. Hum. Genet. 66 (6): 1766–76. doi:10.1086/302930. PMC 1378044. PMID 10777716.
- Välkkilä M, Melkoniemi M, Kvist L, et al. (2002). "Genomic organization of the human COL3A1 and COL5A2 genes: COL5A2 has evolved differently than the other minor fibrillar collagen genes". Matrix Biol. 20 (5–6): 357–66. doi:10.1016/S0945-053X(01)00145-7. PMID 11566270.
- Unsöld C, Pappano WN, Imamura Y, et al. (2002). "Biosynthetic processing of the pro-alpha 1(V)2pro-alpha 2(V) collagen heterotrimer by bone morphogenetic protein-1 and furin-like proprotein convertases". J. Biol. Chem. 277 (7): 5596–602. doi:10.1074/jbc.M110003200. PMID 11741999.
- Grond-Ginsbach C, Wigger F, Morcher M, et al. (2002). "Sequence analysis of the COL5A2 gene in patients with spontaneous cervical artery dissections". Neurology. 58 (7): 1103–5. doi:10.1212/wnl.58.7.1103. PMID 11940702. S2CID 11310943.
- Takahara K, Schwarze U, Imamura Y, et al. (2002). "Order of Intron Removal Influences Multiple Splice Outcomes, Including a Two-Exon Skip, in a COL5A1 Acceptor-Site Mutation That Results in Abnormal Pro-α1(V) N-Propeptides and Ehlers-Danlos Syndrome Type I". Am. J. Hum. Genet. 71 (3): 451–65. doi:10.1086/342099. PMC 379186. PMID 12145749.
- Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.