COL4A3
Kolagenski lanac alfa-3(IV) jest protein koji je kod ljudi kodiran genom COL4A3 sa hromosoma 2.[5][6]
Amiokiselininska sekvenca
urediDužina polipeptidnog lanca je 1 670 aminokiselina, a molekulska težina 161.813 Da.[7]
10 | 20 | 30 | 40 | 50 | ||||
---|---|---|---|---|---|---|---|---|
MSARTAPRPQ | VLLLPLLLVL | LAAAPAASKG | CVCKDKGQCF | CDGAKGEKGE | ||||
KGFPGPPGSP | GQKGFTGPEG | LPGPQGPKGF | PGLPGLTGSK | GVRGISGLPG | ||||
FSGSPGLPGT | PGNTGPYGLV | GVPGCSGSKG | EQGFPGLPGT | LGYPGIPGAA | ||||
GLKGQKGAPA | KEEDIELDAK | GDPGLPGAPG | PQGLPGPPGF | PGPVGPPGPP | ||||
GFFGFPGAMG | PRGPKGHMGE | RVIGHKGERG | VKGLTGPPGP | PGTVIVTLTG | ||||
PDNRTDLKGE | KGDKGAMGEP | GPPGPSGLPG | ESYGSEKGAP | GDPGLQGKPG | ||||
KDGVPGFPGS | EGVKGNRGFP | GLMGEDGIKG | QKGDIGPPGF | RGPTEYYDTY | ||||
QEKGDEGTPG | PPGPRGARGP | QGPSGPPGVP | GSPGSSRPGL | RGAPGWPGLK | ||||
GSKGERGRPG | KDAMGTPGSP | GCAGSPGLPG | SPGPPGPPGD | IVFRKGPPGD | ||||
HGLPGYLGSP | GIPGVDGPKG | EPGLLCTQCP | YIPGPPGLPG | LPGLHGVKGI | ||||
PGRQGAAGLK | GSPGSPGNTG | LPGFPGFPGA | QGDPGLKGEK | GETLQPEGQV | ||||
GVPGDPGLRG | QPGRKGLDGI | PGTPGVKGLP | GPKGELALSG | EKGDQGPPGD | ||||
PGSPGSPGPA | GPAGPPGYGP | QGEPGLQGTQ | GVPGAPGPPG | EAGPRGELSV | ||||
STPVPGPPGP | PGPPGHPGPQ | GPPGIPGSLG | KCGDPGLPGP | DGEPGIPGIG | ||||
FPGPPGPKGD | QGFPGTKGSL | GCPGKMGEPG | LPGKPGLPGA | KGEPAVAMPG | ||||
GPGTPGFPGE | RGNSGEHGEI | GLPGLPGLPG | TPGNEGLDGP | RGDPGQPGPP | ||||
GEQGPPGRCI | EGPRGAQGLP | GLNGLKGQQG | RRGKTGPKGD | PGIPGLDRSG | ||||
FPGETGSPGI | PGHQGEMGPL | GQRGYPGNPG | ILGPPGEDGV | IGMMGFPGAI | ||||
GPPGPPGNPG | TPGQRGSPGI | PGVKGQRGTP | GAKGEQGDKG | NPGPSEISHV | ||||
IGDKGEPGLK | GFAGNPGEKG | NRGVPGMPGL | KGLKGLPGPA | GPPGPRGDLG | ||||
STGNPGEPGL | RGIPGSMGNM | GMPGSKGKRG | TLGFPGRAGR | PGLPGIHGLQ | ||||
GDKGEPGYSE | GTRPGPPGPT | GDPGLPGDMG | KKGEMGQPGP | PGHLGPAGPE | ||||
GAPGSPGSPG | LPGKPGPHGD | LGFKGIKGLL | GPPGIRGPPG | LPGFPGSPGP | ||||
MGIRGDQGRD | GIPGPAGEKG | ETGLLRAPPG | PRGNPGAQGA | KGDRGAPGFP | ||||
GLPGRKGAMG | DAGPRGPTGI | EGFPGPPGLP | GAIIPGQTGN | RGPPGSRGSP | ||||
GAPGPPGPPG | SHVIGIKGDK | GSMGHPGPKG | PPGTAGDMGP | PGRLGAPGTP | ||||
GLPGPRGDPG | FQGFPGVKGE | KGNPGFLGSI | GPPGPIGPKG | PPGVRGDPGT | ||||
LKIISLPGSP | GPPGTPGEPG | MQGEPGPPGP | PGNLGPCGPR | GKPGKDGKPG | ||||
TPGPAGEKGN | KGSKGEPGPA | GSDGLPGLKG | KRGDSGSPAT | WTTRGFVFTR | ||||
HSQTTAIPSC | PEGTVPLYSG | FSFLFVQGNQ | RAHGQDLGTL | GSCLQRFTTM | ||||
PFLFCNVNDV | CNFASRNDYS | YWLSTPALMP | MNMAPITGRA | LEPYISRCTV | ||||
CEGPAIAIAV | HSQTTDIPPC | PHGWISLWKG | FSFIMFTSAG | SEGTGQALAS | ||||
PGSCLEEFRA | SPFLECHGRG | TCNYYSNSYS | FWLASLNPER | MFRKPIPSTV | ||||
KAGELEKIIS | RCQVCMKKRH |
Funkcija
urediKolagen tipa IV, glavna strukturna komponenta baznih membrana, je multimerni protein sastavljen od tri alfa podjedinice. Ove podjedinice su kodirane sa šest različitih gena, alfa 1 do alfa 6, od kojih svaki može formirati strukturu trostruki heliks sa po dvije druge podjedinice, kako bi formirao kolagen tipa IV. Ovaj gen kodira alfa 3. U Goodpastureovom sindromu, autoantitijela se vezuju za molekule kolagena u baznim membranama alveola i glomerula. Epitopi koji izazivaju ova autoantitijela su uglavnom lokalizirani na nekolagenskom C-terminalnom domenu proteina. Specifična kinaza fosforilizira aminokiseline u istoj C-terminalnoj regiji i njena ekspresija pojačava se tokom patogeneze. Postoji više alternativnih transkripata koji su jedinstveni za ovaj ljudski alfa 3 gen, a alternativna prerada ograničena je na šest egzona koji kodiraju ovaj C-terminalni domen. Ovaj gen je također vezan za autosomno recesivnu formu Alportovog sindroma. Mutacije koje doprinose ovom sindromu se također nalaze unutar egzona koji kodiraju ovu C-terminalnu regiju. Poput ostalih članova porodice kolagenih gena tipa IV, ovaj gen je organiziran u konformaciji glave do glave s drugim genom za kolagen tipa IV tako da svaki par gena dijeli zajednički promotor. Neki egzoni ovog gena su prošarani egzonima nekarakterističnog gena koji se nalazi na suprotnoj niti.[6]
Baza podataka bolesti
urediReference
uredi- ^ a b c GRCh38: Ensembl release 89: ENSG00000169031 - Ensembl, maj 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000079465 - 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.
- ^ Turner N, Mason PJ, Brown R, Fox M, Povey S, Rees A, Pusey CD (Mar 1992). "Molecular cloning of the human Goodpasture antigen demonstrates it to be the alpha 3 chain of type IV collagen". J Clin Invest. 89 (2): 592–601. doi:10.1172/JCI115625. PMC 442892. PMID 1737849.
- ^ a b "Entrez Gene: COL4A3 collagen, type IV, alpha 3 (Goodpasture antigen)".
- ^ "UniProt, Q01955" (jezik: engleski). Pristupljeno 16. 11. 2021.
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