GeneID: 81



Names

Common Name: AQP1 Type: Gene
Chromosome: 7 (NC_000007.14) Locus: NG_007475.2 (AQP1)
HUGO Symbol: AQP1 Full Name: aquaporin 1 (Colton blood group)
Exons: 4 Introns: 3

Description:
AQP1 is a member of a family of integral membrane proteins that function as water-conducting pores. The movement of water through aquaporins is principally driven by osmotic gradients. AQP1 exists as a tetramer with each subunit containing six transmembrane α-helical domains surrounding a water pore, and is abundant in erythrocytes and renal tubes. The encoded protein also functions as a cyclic GMP-gated ion channel with a possible role in signalling. The gene encoding this aquaporin is a possible candidate for disorders involving imbalance in ocular fluid movement. Polymorphisms in this gene associated with priapism in sickle cell patients. Several transcript variants encoding different isoforms have been found for this gene.

Synonyms: CO , CHIP28 , AQP-CHIP

Comments:
N/A

Sequence Viewer

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Publications / Origin

  1. Sui H, Han BG, Lee JK, Walian P, Jap BK, Structural basis of water-specific transport through the AQP1 water channel., Nature , 414(6866), 872-8, 2001 PubMed
  2. Elliott L, Ashley-Koch AE, De Castro L, Jonassaint J, Price J, Ataga KI, Levesque MC, Brice Weinberg J, Eckman JR, Orringer EP, Vance JM, Telen MJ, Genetic polymorphisms associated with priapism in sickle cell disease., Br. J. Haematol. , 137(3), 262-7, 2007 PubMed
  3. Zhang W, Zitron E, Hömme M, Kihm L, Morath C, Scherer D, Hegge S, Thomas D, Schmitt CP, Zeier M, Katus H, Karle C, Schwenger V, Aquaporin-1 channel function is positively regulated by protein kinase C., J. Biol. Chem. , 282(29), 20933-40, 2007 PubMed
Created on 2016-04-26 16:20:34, Last reviewed on 2016-04-26 16:23:16 (Show full history)


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