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COL4A4

S Wikipedije, slobodne enciklopedije
COL4A4
Identifikatori
AliasiCOL4A4
Vanjski ID-jeviOMIM: 120131 MGI: 104687 HomoloGene: 20071 GeneCards: COL4A4
Lokacija gena (čovjek)
Hromosom 2 (čovjek)
Hrom.Hromosom 2 (čovjek)[1]
Hromosom 2 (čovjek)
Genomska lokacija za COL4A4
Genomska lokacija za COL4A4
Bend2q36.3Početak227,002,714 bp[1]
Kraj227,164,453 bp[1]
Lokacija gena (miš)
Hromosom 1 (miš)
Hrom.Hromosom 1 (miš)[2]
Hromosom 1 (miš)
Genomska lokacija za COL4A4
Genomska lokacija za COL4A4
Bend1|1 C5Početak82,426,144 bp[2]
Kraj82,564,570 bp[2]
Obrazac RNK ekspresije
Više referentnih podataka o ekspresiji
Ontologija gena
Molekularna funkcija extracellular matrix structural constituent
extracellular matrix structural constituent conferring tensile strength
Ćelijska komponenta extracellular region
basement membrane
collagen
collagen type IV trimer
endoplasmic reticulum lumen
Vanćelijsko
GO:0005578 Vanćelijski matriks
collagen-containing extracellular matrix
Biološki proces extracellular matrix organization
glomerular basement membrane development
Angiogeneza
endothelial cell morphogenesis
Izvori:Amigo / QuickGO
Ortolozi
VrsteČovjekMiš
Entrez
Ensembl
UniProt
RefSeq (mRNK)

NM_000092

NM_007735

RefSeq (bjelančevina)

NP_000083

NP_031761

Lokacija (UCSC)Chr 2: 227 – 227.16 MbChr 1: 82.43 – 82.56 Mb
PubMed pretraga[3][4]
Wikipodaci
Pogledaj/uredi – čovjekPogledaj/uredi – miš

Kolagenski lanac alfa-4(IV) jest protein koji je kod ljudi kodiran genom COL4A4 sa hromosoma 2.[5][6]

Amiokiselininska sekvenca

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Dužina polipeptidnog lanca je 1.690 aminokiselina, a molekulska težina 164.038 Da.[7]

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

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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

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

Reference

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  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000081052 - Ensembl, maj 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000067158 - 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.
  5. ^ 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.
  6. ^ a b "Entrez Gene: COL4A4 collagen, type IV, alpha 4".
  7. ^ "UniProt, P53420" (jezik: engleski). Pristupljeno 16. 11. 2021.

Dopunska literatura

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Vanjski linkovi

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