COL4A3

Kolagenski lanac alfa-3(IV) jest protein koji je kod ljudi kodiran genom COL4A3 sa hromosoma 2.

COL4A3
Identifikatori
Aliasi	COL4A3
Vanjski ID-jevi	OMIM: 120070 MGI: 104688 HomoloGene: 68033 GeneCards: COL4A3
Lokacija gena (čovjek) Hrom. Hromosom 2 (čovjek) Bend 2q36.3 Početak 227,164,624 bp Kraj 227,314,792 bp
Lokacija gena (miš) Hrom. Hromosom 1 (miš) Bend 1|1 C5 Početak 82,564,642 bp Kraj 82,699,780 bp
Obrazac RNK ekspresije Više referentnih podataka o ekspresiji
Ontologija gena Molekularna funkcija • extracellular matrix structural constituent • structural molecule activity • GO:0001948, GO:0016582 vezivanje za proteine • metalloendopeptidase inhibitor activity • integrin binding • extracellular matrix structural constituent conferring tensile strength Ćelijska komponenta • collagen • endoplasmic reticulum lumen • intracellular membrane-bounded organelle • Endoplazmatski retikulum • extracellular region • basement membrane • collagen type IV trimer • Vanćelijsko • GO:0005578 Vanćelijski matriks • collagen-containing extracellular matrix Biološki proces • extracellular matrix organization • sluh • Krvotok • Ćelijska adhezija • endothelial cell apoptotic process • Ćelijska proliferacija • activation of cysteine-type endopeptidase activity involved in apoptotic process • negative regulation of cell population proliferation • cell surface receptor signaling pathway • negative regulation of endopeptidase activity • negative regulation of angiogenesis • glomerular basement membrane development • collagen-activated tyrosine kinase receptor signaling pathway • response to glucose Izvori:Amigo / QuickGO
Ortolozi
Vrste	Čovjek	Miš
Entrez	1285	12828
Ensembl	ENSG00000169031	ENSMUSG00000079465
UniProt	Q01955	Q9QZS0
RefSeq (mRNK)	NM_000091 NM_031362 NM_031363 NM_031364 NM_031365 NM_031366	NM_007734
RefSeq (bjelančevina)	NP_000082	NP_031760
Lokacija (UCSC)	Chr 2: 227.16 – 227.31 Mb	Chr 1: 82.56 – 82.7 Mb
PubMed pretraga
Wikipodaci
Pogledaj/uredi – čovjek Pogledaj/uredi – miš

Amiokiselininska sekvenca

Dužina polipeptidnog lanca je 1 670 aminokiselina, a molekulska težina 161.813 Da.

• C: Cistein
• D: Asparaginska kiselina
• E: Glutaminska kiselina
• F: Fenilalanin
• G: Glicin
• H: Histidin
• I: Izoleucin
• K: Lizin
• L: Leucin
• M: Metionin
• N: Asparagin
• P: Prolin
• Q: Glutamin
• R: Arginin
• S: Serin
• T: Treonin
• V: Valin
• W: Triptofan
• Y: Tirozin

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

Kolagen 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.

Baza podataka bolesti

LOVD Alport gene variant databases (COL4A3, COL4A4, COL4A5)

Dopunska literatura

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