COL4A4
Kolagenski lanac alfa-4(IV) jest protein koji je kod ljudi kodiran genom COL4A4 sa hromosoma 2.[5][6]
Amiokiselininska sekvenca
[uredi | uredi izvor]Dužina polipeptidnog lanca je 1.690 aminokiselina, a molekulska težina 164.038 Da.[7]
| 10 | 20 | 30 | 40 | 50 | ||||
|---|---|---|---|---|---|---|---|---|
| MWSLHIVLMR | CSFRLTKSLA | TGPWSLILIL | FSVQYVYGSG | KKYIGPCGGR | ||||
| DCSVCHCVPE | KGSRGPPGPP | GPQGPIGPLG | APGPIGLSGE | KGMRGDRGPP | ||||
| GAAGDKGDKG | PTGVPGFPGL | DGIPGHPGPP | GPRGKPGMSG | HNGSRGDPGF | ||||
| PGGRGALGPG | GPLGHPGEKG | EKGNSVFILG | AVKGIQGDRG | DPGLPGLPGS | ||||
| WGAGGPAGPT | GYPGEPGLVG | PPGQPGRPGL | KGNPGVGVKG | QMGDPGEVGQ | ||||
| QGSPGPTLLV | EPPDFCLYKG | EKGIKGIPGM | VGLPGPPGRK | GESGIGAKGE | ||||
| KGIPGFPGPR | GDPGSYGSPG | FPGLKGELGL | VGDPGLFGLI | GPKGDPGNRG | ||||
| HPGPPGVLVT | PPLPLKGPPG | DPGFPGRYGE | TGDVGPPGPP | GLLGRPGEAC | ||||
| AGMIGPPGPQ | GFPGLPGLPG | EAGIPGRPDS | APGKPGKPGS | PGLPGAPGLQ | ||||
| GLPGSSVIYC | SVGNPGPQGI | KGKVGPPGGR | GPKGEKGNEG | LCACEPGPMG | ||||
| PPGPPGLPGR | QGSKGDLGLP | GWLGTKGDPG | PPGAEGPPGL | PGKHGASGPP | ||||
| GNKGAKGDMV | VSRVKGHKGE | RGPDGPPGFP | GQPGSHGRDG | HAGEKGDPGP | ||||
| PGDHEDATPG | GKGFPGPLGP | PGKAGPVGPP | GLGFPGPPGE | RGHPGVPGHP | ||||
| GVRGPDGLKG | QKGDTISCNV | TYPGRHGPPG | FDGPPGPKGF | PGPQGAPGLS | ||||
| GSDGHKGRPG | TPGTAEIPGP | PGFRGDMGDP | GFGGEKGSSP | VGPPGPPGSP | ||||
| GVNGQKGIPG | DPAFGHLGPP | GKRGLSGVPG | IKGPRGDPGC | PGAEGPAGIP | ||||
| GFLGLKGPKG | REGHAGFPGV | PGPPGHSCER | GAPGIPGQPG | LPGYPGSPGA | ||||
| PGGKGQPGDV | GPPGPAGMKG | LPGLPGRPGA | HGPPGLPGIP | GPFGDDGLPG | ||||
| PPGPKGPRGL | PGFPGFPGER | GKPGAEGCPG | AKGEPGEKGM | SGLPGDRGLR | ||||
| GAKGAIGPPG | DEGEMAIISQ | KGTPGEPGPP | GDDGFPGERG | DKGTPGMQGR | ||||
| RGEPGRYGPP | GFHRGEPGEK | GQPGPPGPPG | PPGSTGLRGF | IGFPGLPGDQ | ||||
| GEPGSPGPPG | FSGIDGARGP | KGNKGDPASH | FGPPGPKGEP | GSPGCPGHFG | ||||
| ASGEQGLPGI | QGPRGSPGRP | GPPGSSGPPG | CPGDHGMPGL | RGQPGEMGDP | ||||
| GPRGLQGDPG | IPGPPGIKGP | SGSPGLNGLH | GLKGQKGTKG | ASGLHDVGPP | ||||
| GPVGIPGLKG | ERGDPGSPGI | SPPGPRGKKG | PPGPPGSSGP | PGPAGATGRA | ||||
| PKDIPDPGPP | GDQGPPGPDG | PRGAPGPPGL | PGSVDLLRGE | PGDCGLPGPP | ||||
| GPPGPPGPPG | YKGFPGCDGK | DGQKGPVGFP | GPQGPHGFPG | PPGEKGLPGP | ||||
| PGRKGPTGLP | GPRGEPGPPA | DVDDCPRIPG | LPGAPGMRGP | EGAMGLPGMR | ||||
| GPSGPGCKGE | PGLDGRRGVD | GVPGSPGPPG | RKGDTGEDGY | PGGPGPPGPI | ||||
| GDPGPKGFGP | GYLGGFLLVL | HSQTDQEPTC | PLGMPRLWTG | YSLLYLEGQE | ||||
| KAHNQDLGLA | GSCLPVFSTL | PFAYCNIHQV | CHYAQRNDRS | YWLASAAPLP | ||||
| MMPLSEEAIR | PYVSRCAVCE | APAQAVAVHS | QDQSIPPCPQ | TWRSLWIGYS | ||||
| FLMHTGAGDQ | GGGQALMSPG | SCLEDFRAAP | FLECQGRQGT | CHFFANKYSF | ||||
| WLTTVKADLQ | FSSAPAPDTL | KESQAQRQKI | SRCQVCVKYS |
Funkcija
[uredi | uredi izvor]Ovaj gen kodira jednu od šest podjedinica kolagena tipa IV, glavne strukturne komponente baznih membrana. Ova konkretna podjedinica kolagena IV, međutim, nalazi se samo u podskupu baznih membrana. Poput ostalih članova porodice kolagenskih gena tipa IV, ovaj gen je organiziran u konformaciji glava do glave s drugim genom za kolagen tipa IV, tako da svaki par gena dijeli zajednički promotor. Mutacije ovog gena su povezane sa autosomno recesivnim tipom II Alportovog sindroma (nasljedna glomerulonefropatija) i sa porodičnom benignom hematurijom (bolest tanke bazne membrane). Za ovaj gen su identificirana dvije varijante transkripta, koje se razlikuju samo po mjestima početka transkripcije, i, kao što je uobičajeno za gene kolagena, višestruka poliadenilacija nalazi se u 3' UTR-regiji.[6]
Baza podataka bolesti
[uredi | uredi izvor]LOVD Alport gene variant databases (COL4A4, COL4A3, COL4A5)
Reference
[uredi | uredi izvor]- ^ a b c GRCh38: Ensembl release 89: ENSG00000081052 - Ensembl, maj 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000067158 - 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.
- ^ Mariyama M, Zheng K, Yang-Feng TL, Reeders ST (Aug 1992). "Colocalization of the genes for the alpha 3(IV) and alpha 4(IV) chains of type IV collagen to chromosome 2 bands q35-q37". Genomics. 13 (3): 809–13. doi:10.1016/0888-7543(92)90157-N. PMID 1639407.
- ^ a b "Entrez Gene: COL4A4 collagen, type IV, alpha 4".
- ^ "UniProt, P53420" (jezik: engleski). Pristupljeno 16. 11. 2021.
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