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GIL sistem antigena

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GIL sistem antigena
Identifikatori
AliasiAQP3
Vanjski ID-jeviOMIM: 600170 MGI: 1333777 HomoloGene: 21025 GeneCards: AQP3
Lokacija gena (čovjek)
Hromosom 9 (čovjek)
Hrom.Hromosom 9 (čovjek)[1]
Hromosom 9 (čovjek)
Genomska lokacija za GIL sistem antigena
Genomska lokacija za GIL sistem antigena
Bend9p13.3Početak33,441,156 bp[1]
Kraj33,447,596 bp[1]
Lokacija gena (miš)
Hromosom 4 (miš)
Hrom.Hromosom 4 (miš)[2]
Hromosom 4 (miš)
Genomska lokacija za GIL sistem antigena
Genomska lokacija za GIL sistem antigena
Bend4|4 A5Početak41,092,722 bp[2]
Kraj41,098,183 bp[2]
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
VrsteČovjekMiš
Entrez
Ensembl
UniProt
RefSeq (mRNK)

NM_004925
NM_001318144

NM_016689

RefSeq (bjelančevina)

NP_001305073
NP_004916

NP_057898

Lokacija (UCSC)Chr 9: 33.44 – 33.45 MbChr 4: 41.09 – 41.1 Mb
PubMed pretraga[3][4]
Wikipodaci
Pogledaj/uredi – čovjekPogledaj/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

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  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000165272 - Ensembl, maj 2017
  2. ^ a b c 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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