COL4A3

COL4A3
Identifikatori
Aliasi	COL4A3
Vanjski ID-jevi	OMIM: 120070 MGI: 104688 HomoloGene: 68033 GeneCards: COL4A3
Lokacija gena (čovjek)
Hrom.	Hromosom 2 (čovjek)
Kraj	227,314,792 bp
Lokacija gena (miš)
Hrom.	Hromosom 1 (miš)
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
	1285
	12828
	ENSG00000169031
	ENSMUSG00000079465
	Q01955
	Q9QZS0
NM_000091; NM_031362; NM_031363; NM_031364; NM_031365;
	NM_031366
	NM_007734
	NP_000082
	NP_031760
	Wikipodaci
Pogledaj/uredi – čovjek	Pogledaj/uredi – miš

Kolagenski lanac alfa-3(IV) jest protein koji je kod ljudi kodiran genom COL4A3 sa hromosoma 2.^[5]^[6]

Amiokiselininska sekvenca

Dužina polipeptidnog lanca je 1 670 aminokiselina, a molekulska težina 161.813 Da.^[7]

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.^[6]

Baza podataka bolesti

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

Reference

^ ^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.

Dopunska literatura

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Kurpakus Wheater M, Kernacki KA, Hazlett LD (1999). "Corneal cell proteins and ocular surface pathology". Biotechnic & Histochemistry. 74 (3): 146–59. doi:10.3109/10520299909047967. PMID 10416788.
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Torra R, Tazón-Vega B, Ars E, Ballarín J (2005). "Collagen type IV (alpha3-alpha4) nephropathy: from isolated haematuria to renal failure". Nephrol. Dial. Transplant. 19 (10): 2429–32. doi:10.1093/ndt/gfh435. PMID 15280517.
Rana K, Wang YY, Buzza M, et al. (2005). "The genetics of thin basement membrane nephropathy". Semin. Nephrol. 25 (3): 163–70. doi:10.1016/j.semnephrol.2005.01.008. PMID 15880327.
Maziers N, Dahan K, Pirson Y (2006). "[From Alport syndrome to benign familial hematuria: clinical and genetic aspect]". Nephrol. Ther. 1 (2): 90–100. doi:10.1016/j.nephro.2005.03.005. PMID 16895672.
Ghebrehiwet B, Peerschke EI, Hong Y, et al. (1992). "Short amino acid sequences derived from C1q receptor (C1q-R) show homology with the alpha chains of fibronectin and vitronectin receptors and collagen type IV". J. Leukoc. Biol. 51 (6): 546–56. doi:10.1002/jlb.51.6.546. PMID 1377218. S2CID 1214598.
Quinones S, Bernal D, García-Sogo M, et al. (1992). "Exon/intron structure of the human alpha 3(IV) gene encompassing the Goodpasture antigen (alpha 3(IV)NC1). Identification of a potentially antigenic region at the triple helix/NC1 domain junction". J. Biol. Chem. 267 (28): 19780–4. doi:10.1016/S0021-9258(19)88621-0. PMID 1400291.
Gupta S, Batchu RB, Datta K (1992). "Purification, partial characterization of rat kidney hyaluronic acid binding protein and its localization on the cell surface". Eur. J. Cell Biol. 56 (1): 58–67. PMID 1724753.
Morrison KE, Mariyama M, Yang-Feng TL, Reeders ST (1991). "Sequence and localization of a partial cDNA encoding the human alpha 3 chain of type IV collagen". Am. J. Hum. Genet. 49 (3): 545–54. PMC 1683122. PMID 1882840.
Hernandez MR, Igoe F, Neufeld AH (1986). "Extracellular matrix of the human optic nerve head". Am. J. Ophthalmol. 102 (2): 139–48. doi:10.1016/0002-9394(86)90134-0. PMID 2426947.
Griffin CA, Emanuel BS, Hansen JR, et al. (1987). "Human collagen genes encoding basement membrane alpha 1 (IV) and alpha 2 (IV) chains map to the distal long arm of chromosome 13". Proc. Natl. Acad. Sci. U.S.A. 84 (2): 512–6. doi:10.1073/pnas.84.2.512. PMC 304239. PMID 3025878.
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Vanjski linkovi

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000169031 - Ensembl, maj 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000079465 - Ensembl, maj 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[pmid1737849-5] 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.

[ncbi-6] "Entrez Gene: COL4A3 collagen, type IV, alpha 3 (Goodpasture antigen)".

[UniProt-7] "UniProt, Q01955" (jezik: engleski). Pristupljeno 16. 11. 2021.

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