T3DB: Aquaporin-5

Name	Aquaporin-5
Synonyms	AQP-5
Gene Name	AQP5
Organism	Human
Amino acid sequence	>lcl\|BSEQ0013403\|Aquaporin-5 MKKEVCSVAFLKAVFAEFLATLIFVFFGLGSALKWPSALPTILQIALAFGLAIGTLAQAL GPVSGGHINPAITLALLVGNQISLLRAFFYVAAQLVGAIAGAGILYGVAPLNARGNLAVN ALNNNTTQGQAMVVELILTFQLALCIFASTDSRRTSPVGSPALSIGLSVTLGHLVGIYFT GCSMNPARSFGPAVVMNRFSPAHWVFWVGPIVGAVLAAILYFYLLFPNSLSLSERVAIIK GTYEPDEDWEEQREERKKTMELTTR
Number of residues	265
Molecular Weight	28291.89
Theoretical pI	Not Available
GO Classification	Functions glycerol channel activity water channel activity Processes transmembrane transport ion transmembrane transport saliva secretion excretion water transport pancreatic juice secretion odontogenesis cellular water homeostasis glycerol transport camera-type eye morphogenesis carbon dioxide transport Components apical plasma membrane basal plasma membrane microvillus endoplasmic reticulum plasma membrane extracellular exosome integral component of plasma membrane
General Function	Water channel activity
Specific Function	Forms a water-specific channel. Implicated in the generation of saliva, tears, and pulmonary secretions. Required for TRPV4 activation by hypotonicity (PubMed:16571723). Together with TRPV4, controls regulatory volume decrease in salivary epithelial cells (PubMed:16571723).
Pfam Domain Function	MIP (PF00230 )
Transmembrane Regions	13-33 37-57 88-108 127-147 162-182 206-226
GenBank Protein ID	Not Available
UniProtKB ID	P55064
UniProtKB Entry Name	AQP5_HUMAN
Cellular Location	Apical cell membrane
Gene sequence	>lcl\|BSEQ0013404\|Aquaporin-5 (AQP5) ATGAAGAAGGAGGTGTGCTCCGTGGCCTTCCTCAAGGCCGTGTTCGCAGAGTTCTTGGCC ACCCTCATCTTCGTCTTCTTTGGCCTGGGCTCGGCCCTCAAGTGGCCGTCGGCGCTGCCT ACCATCCTGCAGATCGCGCTGGCGTTTGGCCTGGCCATAGGCACGCTGGCCCAGGCCCTG GGACCCGTGAGCGGCGGCCACATCAACCCCGCCATCACCCTGGCCCTCTTGGTGGGCAAC CAGATCTCGCTGCTCCGGGCTTTCTTCTACGTGGCGGCCCAGCTGGTGGGCGCCATTGCC GGGGCTGGCATCCTCTACGGTGTGGCACCGCTCAATGCCCGGGGCAATCTGGCCGTCAAC GCGCTCAACAACAACACAACGCAGGGCCAGGCCATGGTGGTGGAGCTGATTCTGACCTTC CAGCTGGCACTCTGCATCTTCGCCTCCACTGACTCCCGCCGCACCAGCCCTGTGGGCTCC CCAGCCCTGTCCATTGGCCTGTCTGTCACCCTGGGCCACCTTGTCGGAATCTACTTCACT GGCTGCTCCATGAACCCAGCCCGCTCTTTTGGCCCTGCGGTGGTCATGAATCGGTTCAGC CCCGCTCACTGGGTTTTCTGGGTAGGGCCCATCGTGGGGGCGGTCCTGGCTGCCATCCTT TACTTCTACCTGCTCTTCCCCAACTCCCTGAGCCTGAGTGAGCGTGTGGCCATCATCAAA GGCACGTATGAGCCTGACGAGGACTGGGAGGAGCAGCGGGAAGAGCGGAAGAAGACCATG GAGCTGACCACCCGCTGA
GenBank Gene ID	Not Available
GeneCard ID	Not Available
GenAtlas ID	Not Available
HGNC ID	HGNC:638
Chromosome Location	12
Locus	Not Available
References	Lee MD, Bhakta KY, Raina S, Yonescu R, Griffin CA, Copeland NG, Gilbert DJ, Jenkins NA, Preston GM, Agre P: The human Aquaporin-5 gene. Molecular characterization and chromosomal localization. J Biol Chem. 1996 Apr 12;271(15):8599-604. 8621489 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 Liu X, Bandyopadhyay BC, Nakamoto T, Singh B, Liedtke W, Melvin JE, Ambudkar I: A role for AQP5 in activation of TRPV4 by hypotonicity: concerted involvement of AQP5 and TRPV4 in regulation of cell volume recovery. J Biol Chem. 2006 Jun 2;281(22):15485-95. Epub 2006 Mar 29. 16571723 Blaydon DC, Lind LK, Plagnol V, Linton KJ, Smith FJ, Wilson NJ, McLean WH, Munro CS, South AP, Leigh IM, O'Toole EA, Lundstrom A, Kelsell DP: Mutations in AQP5, encoding a water-channel protein, cause autosomal-dominant diffuse nonepidermolytic palmoplantar keratoderma. Am J Hum Genet. 2013 Aug 8;93(2):330-5. doi: 10.1016/j.ajhg.2013.06.008. Epub 2013 Jul 3. 23830519