GIL sistem antigena

GIL sistem antigena
Identifikatori
Aliasi	AQP3
Vanjski ID-jevi	OMIM: 600170 MGI: 1333777 HomoloGene: 21025 GeneCards: AQP3
Lokacija gena (čovjek)
Hrom.	Hromosom 9 (čovjek)
Kraj	33,447,596 bp
Lokacija gena (miš)
Hrom.	Hromosom 4 (miš)
Kraj	41,098,183 bp
Ontologija gena
Molekularna funkcija	• water channel activity; • glycerol channel activity; • transporter activity; • channel activity; • urea transmembrane transporter activity;
Ćelijska komponenta	• citoplazma; • integral component of membrane; • membrana; • cell-cell junction; • ćelijska membrana; • basolateral plasma membrane; • jedro;
Biološki proces	• positive regulation of immune system process; • izlučivanje; • response to vitamin D; • response to retinoic acid; • water transport; • urea transport; • odontogenesis; • response to calcium ion; • renal water homeostasis; • regulation of keratinocyte differentiation; • renal water absorption; • glycerol transport; • cellular response to oxygen-glucose deprivation; • cellular response to hypoxia; • transmembrane transport; • urea transmembrane transport;
	Izvori:Amigo / QuickGO
Ortolozi
	360
	11828
	ENSG00000165272
	ENSMUSG00000028435
	Q92482
	Q8R2N1
	NM_004925; NM_001318144
	NM_016689
	NP_001305073; NP_004916
	NP_057898
	Wikipodaci
Pogledaj/uredi – čovjek	Pogledaj/uredi – miš

Antigeni GIL sistema je nekadašnji naziv za Aquaporin 3 (AQP3), koji je otkriven u bazolateralnim ćelijskim membranama glavnog sabirnog kanala, a omogućava put izlaska vode iz ćelije.^[5] U bubregu se ispoljavanje AQP3 gena regulira vazopresinom (ADH). Ovaj protein je isključiva determinanta GIL sistema krvnih grupa.^[6]

Reference

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000165272 - Ensembl, maj 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000028435 - 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.
^ Sasaki S., Ishibashi K., Marumo F. (1998): Aquaporin-2 and -3: representatives of two subgroups of the aquaporin family colocalized in the kidney collecting duct. Annu. Rev. Physiol., 60: 199–220.
^ Roudier N., Ripoche P., Gane P., Le Pennec P. Y., Daniels G., Cartron J. P., Bailly P. (2002): AQP3 deficiency in humans and the molecular basis of a novel blood group system, GIL. J. Biol. Chem., 277 (48): 45854–45859.

Također pogledajte

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000165272 - Ensembl, maj 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000028435 - 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] Sasaki S., Ishibashi K., Marumo F. (1998): Aquaporin-2 and -3: representatives of two subgroups of the aquaporin family colocalized in the kidney collecting duct. Annu. Rev. Physiol., 60: 199–220.

[6] Roudier N., Ripoche P., Gane P., Le Pennec P. Y., Daniels G., Cartron J. P., Bailly P. (2002): AQP3 deficiency in humans and the molecular basis of a novel blood group system, GIL. J. Biol. Chem., 277 (48): 45854–45859.

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