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NameAquaporin-4
Synonyms
  • AQP-4
  • Mercurial-insensitive water channel
  • MIWC
  • WCH4
Gene NameAQP4
OrganismHuman
Amino acid sequence
>lcl|BSEQ0007525|Aquaporin-4
MSDRPTARRWGKCGPLCTRENIMVAFKGVWTQAFWKAVTAEFLAMLIFVLLSLGSTINWG
GTEKPLPVDMVLISLCFGLSIATMVQCFGHISGGHINPAVTVAMVCTRKISIAKSVFYIA
AQCLGAIIGAGILYLVTPPSVVGGLGVTMVHGNLTAGHGLLVELIITFQLVFTIFASCDS
KRTDVTGSIALAIGFSVAIGHLFAINYTGASMNPARSFGPAVIMGNWENHWIYWVGPIIG
AVLAGGLYEYVFCPDVEFKRRFKEAFSKAAQQTKGSYMEVEDNRSQVETDDLILKPGVVH
VIDVDRGEEKKGKDQSGEVLSSV
Number of residues323
Molecular Weight34829.43
Theoretical pI7.75
GO Classification
Functions
  • glycerol channel activity
  • water channel activity
  • water transmembrane transporter activity
Processes
  • transmembrane transport
  • ion transmembrane transport
  • multicellular organismal water homeostasis
  • renal water homeostasis
  • water transport
  • cellular response to interferon-gamma
  • cellular water homeostasis
  • glycerol transport
  • transport
Components
  • integral component of plasma membrane
  • basolateral plasma membrane
  • cytoplasm
  • plasma membrane
  • external side of plasma membrane
General FunctionWater transmembrane transporter activity
Specific FunctionForms a water-specific channel. Osmoreceptor which regulates body water balance and mediates water flow within the central nervous system.
Pfam Domain Function
Transmembrane Regions37-57 65-85 116-136 156-176 185-205 232-252
GenBank Protein ID1072055
UniProtKB IDP55087
UniProtKB Entry NameAQP4_HUMAN
Cellular LocationMembrane
Gene sequence
>lcl|BSEQ0019495|Aquaporin-4 (AQP4)
ATGAGTGACAGACCCACAGCAAGGCGGTGGGGTAAGTGTGGACCTTTGTGTACCAGAGAG
AACATCATGGTGGCTTTCAAAGGGGTCTGGACTCAAGCTTTCTGGAAAGCAGTCACAGCG
GAATTTCTGGCCATGCTTATTTTTGTTCTCCTCAGCCTGGGATCCACCATCAACTGGGGT
GGAACAGAAAAGCCTTTACCGGTCGACATGGTTCTCATCTCCCTTTGCTTTGGACTCAGC
ATTGCAACCATGGTGCAGTGCTTTGGCCATATCAGCGGTGGCCACATCAACCCTGCAGTG
ACTGTGGCCATGGTGTGCACCAGGAAGATCAGCATCGCCAAGTCTGTCTTCTACATCGCA
GCCCAGTGCCTGGGGGCCATCATTGGAGCAGGAATCCTCTATCTGGTCACACCTCCCAGT
GTGGTGGGAGGCCTGGGAGTCACCATGGTTCATGGAAATCTTACCGCTGGTCATGGTCTC
CTGGTTGAGTTGATAATCACATTTCAATTGGTGTTTACTATCTTTGCCAGCTGTGATTCC
AAACGGACTGATGTCACTGGCTCAATAGCTTTAGCAATTGGATTTTCTGTTGCAATTGGA
CATTTATTTGCAATCAATTATACTGGTGCCAGCATGAATCCCGCCCGATCCTTTGGACCT
GCAGTTATCATGGGAAATTGGGAAAACCATTGGATATATTGGGTTGGGCCCATCATAGGA
GCTGTCCTCGCTGGTGGCCTTTATGAGTATGTCTTCTGTCCAGATGTTGAATTCAAACGT
CGTTTTAAAGAAGCCTTCAGCAAAGCTGCCCAGCAAACAAAAGGAAGCTACATGGAGGTG
GAGGACAACAGGAGTCAGGTAGAGACGGATGACCTGATTCTAAAACCTGGAGTGGTGCAT
GTGATTGACGTTGACCGGGGAGAGGAGAAGAAGGGGAAAGACCAATCTGGAGAGGTATTG
TCTTCAGTATGA
GenBank Gene IDU34846
GeneCard IDNot Available
GenAtlas IDNot Available
HGNC IDHGNC:637
Chromosome Location18
Locus18q11.2-q12.1
References
  1. Yang B, Ma T, Verkman AS: cDNA cloning, gene organization, and chromosomal localization of a human mercurial insensitive water channel. Evidence for distinct transcriptional units. J Biol Chem. 1995 Sep 29;270(39):22907-13. 7559426
  2. Misaka T, Abe K, Iwabuchi K, Kusakabe Y, Ichinose M, Miki K, Emori Y, Arai S: A water channel closely related to rat brain aquaporin 4 is expressed in acid- and pepsinogen-secretory cells of human stomach. FEBS Lett. 1996 Mar 4;381(3):208-12. 8601457
  3. Lu M, Lee MD, Smith BL, Jung JS, Agre P, Verdijk MA, Merkx G, Rijss JP, Deen PM: The human AQP4 gene: definition of the locus encoding two water channel polypeptides in brain. Proc Natl Acad Sci U S A. 1996 Oct 1;93(20):10908-12. 8855281
  4. Nusbaum C, Zody MC, Borowsky ML, Kamal M, Kodira CD, Taylor TD, Whittaker CA, Chang JL, Cuomo CA, Dewar K, FitzGerald MG, Yang X, Abouelleil A, Allen NR, Anderson S, Bloom T, Bugalter B, Butler J, Cook A, DeCaprio D, Engels R, Garber M, Gnirke A, Hafez N, Hall JL, Norman CH, Itoh T, Jaffe DB, Kuroki Y, Lehoczky J, Lui A, Macdonald P, Mauceli E, Mikkelsen TS, Naylor JW, Nicol R, Nguyen C, Noguchi H, O'Leary SB, O'Neill K, Piqani B, Smith CL, Talamas JA, Topham K, Totoki Y, Toyoda A, Wain HM, Young SK, Zeng Q, Zimmer AR, Fujiyama A, Hattori M, Birren BW, Sakaki Y, Lander ES: DNA sequence and analysis of human chromosome 18. Nature. 2005 Sep 22;437(7058):551-5. 16177791
  5. Gerhard DS, Wagner L, Feingold EA, Shenmen CM, Grouse LH, Schuler G, Klein SL, Old S, Rasooly R, Good P, Guyer M, Peck AM, Derge JG, Lipman D, Collins FS, Jang W, Sherry S, Feolo M, Misquitta L, Lee E, Rotmistrovsky K, Greenhut SF, Schaefer CF, Buetow K, Bonner TI, Haussler D, Kent J, Kiekhaus M, Furey T, Brent M, Prange C, Schreiber K, Shapiro N, Bhat NK, Hopkins RF, Hsie F, Driscoll T, Soares MB, Casavant TL, Scheetz TE, Brown-stein MJ, Usdin TB, Toshiyuki S, Carninci P, Piao Y, Dudekula DB, Ko MS, Kawakami K, Suzuki Y, Sugano S, Gruber CE, Smith MR, Simmons B, Moore T, Waterman R, Johnson SL, Ruan Y, Wei CL, Mathavan S, Gunaratne PH, Wu J, Garcia AM, Hulyk SW, Fuh E, Yuan Y, Sneed A, Kowis C, Hodgson A, Muzny DM, McPherson J, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M, Madari A, Young AC, Wetherby KD, Granite SJ, Kwong PN, Brinkley CP, Pearson RL, Bouffard GG, Blakesly RW, Green ED, Dickson MC, Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS, Griffith M, Griffith OL, Krzywinski MI, Liao N, Morin R, Palmquist D, Petrescu AS, Skalska U, Smailus DE, Stott JM, Schnerch A, Schein JE, Jones SJ, Holt RA, Baross A, Marra MA, Clifton S, Makowski KA, Bosak S, Malek J: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Genome Res. 2004 Oct;14(10B):2121-7. 15489334
  6. Lanciotti A, Brignone MS, Molinari P, Visentin S, De Nuccio C, Macchia G, Aiello C, Bertini E, Aloisi F, Petrucci TC, Ambrosini E: Megalencephalic leukoencephalopathy with subcortical cysts protein 1 functionally cooperates with the TRPV4 cation channel to activate the response of astrocytes to osmotic stress: dysregulation by pathological mutations. Hum Mol Genet. 2012 May 15;21(10):2166-80. doi: 10.1093/hmg/dds032. Epub 2012 Feb 9. 22328087
  7. Ho JD, Yeh R, Sandstrom A, Chorny I, Harries WE, Robbins RA, Miercke LJ, Stroud RM: Crystal structure of human aquaporin 4 at 1.8 A and its mechanism of conductance. Proc Natl Acad Sci U S A. 2009 May 5;106(18):7437-42. doi: 10.1073/pnas.0902725106. Epub 2009 Apr 21. 19383790