Kolagenski lanac alfa-4(IV) jest protein koji je kod ljudi kodiran genom COL4A4 sa hromosoma 2.
Amiokiselininska sekvenca Dužina polipeptidnog lanca je 1.690 aminokiselina, a molekulska težina 164.038 Da.
1020304050 MWSLHIVLMRCSFRLTKSLATGPWSLILILFSVQYVYGSGKKYIGPCGGR DCSVCHCVPEKGSRGPPGPPGPQGPIGPLGAPGPIGLSGEKGMRGDRGPP GAAGDKGDKGPTGVPGFPGLDGIPGHPGPPGPRGKPGMSGHNGSRGDPGF PGGRGALGPGGPLGHPGEKGEKGNSVFILGAVKGIQGDRGDPGLPGLPGS WGAGGPAGPTGYPGEPGLVGPPGQPGRPGLKGNPGVGVKGQMGDPGEVGQ QGSPGPTLLVEPPDFCLYKGEKGIKGIPGMVGLPGPPGRKGESGIGAKGE KGIPGFPGPRGDPGSYGSPGFPGLKGELGLVGDPGLFGLIGPKGDPGNRG HPGPPGVLVTPPLPLKGPPGDPGFPGRYGETGDVGPPGPPGLLGRPGEAC AGMIGPPGPQGFPGLPGLPGEAGIPGRPDSAPGKPGKPGSPGLPGAPGLQ GLPGSSVIYCSVGNPGPQGIKGKVGPPGGRGPKGEKGNEGLCACEPGPMG PPGPPGLPGRQGSKGDLGLPGWLGTKGDPGPPGAEGPPGLPGKHGASGPP GNKGAKGDMVVSRVKGHKGERGPDGPPGFPGQPGSHGRDGHAGEKGDPGP PGDHEDATPGGKGFPGPLGPPGKAGPVGPPGLGFPGPPGERGHPGVPGHP GVRGPDGLKGQKGDTISCNVTYPGRHGPPGFDGPPGPKGFPGPQGAPGLS GSDGHKGRPGTPGTAEIPGPPGFRGDMGDPGFGGEKGSSPVGPPGPPGSP GVNGQKGIPGDPAFGHLGPPGKRGLSGVPGIKGPRGDPGCPGAEGPAGIP GFLGLKGPKGREGHAGFPGVPGPPGHSCERGAPGIPGQPGLPGYPGSPGA PGGKGQPGDVGPPGPAGMKGLPGLPGRPGAHGPPGLPGIPGPFGDDGLPG PPGPKGPRGLPGFPGFPGERGKPGAEGCPGAKGEPGEKGMSGLPGDRGLR GAKGAIGPPGDEGEMAIISQKGTPGEPGPPGDDGFPGERGDKGTPGMQGR RGEPGRYGPPGFHRGEPGEKGQPGPPGPPGPPGSTGLRGFIGFPGLPGDQ GEPGSPGPPGFSGIDGARGPKGNKGDPASHFGPPGPKGEPGSPGCPGHFG ASGEQGLPGIQGPRGSPGRPGPPGSSGPPGCPGDHGMPGLRGQPGEMGDP GPRGLQGDPGIPGPPGIKGPSGSPGLNGLHGLKGQKGTKGASGLHDVGPP GPVGIPGLKGERGDPGSPGISPPGPRGKKGPPGPPGSSGPPGPAGATGRA PKDIPDPGPPGDQGPPGPDGPRGAPGPPGLPGSVDLLRGEPGDCGLPGPP GPPGPPGPPGYKGFPGCDGKDGQKGPVGFPGPQGPHGFPGPPGEKGLPGP PGRKGPTGLPGPRGEPGPPADVDDCPRIPGLPGAPGMRGPEGAMGLPGMR GPSGPGCKGEPGLDGRRGVDGVPGSPGPPGRKGDTGEDGYPGGPGPPGPI GDPGPKGFGPGYLGGFLLVLHSQTDQEPTCPLGMPRLWTGYSLLYLEGQE KAHNQDLGLAGSCLPVFSTLPFAYCNIHQVCHYAQRNDRSYWLASAAPLP MMPLSEEAIRPYVSRCAVCEAPAQAVAVHSQDQSIPPCPQTWRSLWIGYS FLMHTGAGDQGGGQALMSPGSCLEDFRAAPFLECQGRQGTCHFFANKYSF WLTTVKADLQFSSAPAPDTLKESQAQRQKISRCQVCVKYS
Funkcija 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.
Baza podataka bolesti LOVD Alport gene variant databases (COL4A4, COL4A3, COL4A5)
Reference
Dopunska literatura
Vanjski linkovi
Kategorija:Kolageni Kategorija:Geni na hromosomu 2 Kategorija:Ljudski proteini Kategorija:Proteomika