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NameLens fiber major intrinsic protein
Synonyms
  • AQP0
  • Aquaporin-0
  • MIP26
  • MP26
Gene NameMIP
OrganismHuman
Amino acid sequence
>lcl|BSEQ0012721|Lens fiber major intrinsic protein
MWELRSASFWRAIFAEFFATLFYVFFGLGSSLRWAPGPLHVLQVAMAFGLALATLVQSVG
HISGAHVNPAVTFAFLVGSQMSLLRAFCYMAAQLLGAVAGAAVLYSVTPPAVRGNLALNT
LHPAVSVGQATTVEIFLTLQFVLCIFATYDERRNGQLGSVALAVGFSLALGHLFGMYYTG
AGMNPARSFAPAILTGNFTNHWVYWVGPIIGGGLGSLLYDFLLFPRLKSISERLSVLKGA
KPDVSNGQPEVTGEPVELNTQAL
Number of residues263
Molecular Weight28121.5
Theoretical pI8.67
GO Classification
Functions
  • glycerol channel activity
  • structural constituent of eye lens
  • transporter activity
  • water channel activity
  • calmodulin binding
Processes
  • cellular water homeostasis
  • response to stimulus
  • glycerol transport
  • visual perception
  • transmembrane transport
  • ion transmembrane transport
  • water transport
  • lens development in camera-type eye
  • canalicular bile acid transport
Components
  • plasma membrane
  • gap junction
  • integral component of plasma membrane
  • intracellular membrane-bounded organelle
  • apical plasma membrane
  • intracellular canaliculus
General FunctionWater channel activity
Specific FunctionWater channel. Channel activity is down-regulated by CALM when cytoplasmic Ca(2+) levels are increased. May be responsible for regulating the osmolarity of the lens. Interactions between homotetramers from adjoining membranes may stabilize cell junctions in the eye lens core (By similarity).
Pfam Domain Function
Transmembrane Regions9-32 39-61 85-107 127-147 160-176 201-219
GenBank Protein ID49902494
UniProtKB IDP30301
UniProtKB Entry NameMIP_HUMAN
Cellular LocationCell membrane
Gene sequence
>lcl|BSEQ0012722|Lens fiber major intrinsic protein (MIP)
ATGTGGGAACTGCGATCAGCCTCCTTTTGGAGGGCCATATTCGCTGAGTTCTTTGCCACC
CTCTTCTATGTCTTCTTTGGGCTGGGGTCCTCACTGCGCTGGGCTCCTGGACCCCTGCAT
GTTCTGCAGGTGGCTATGGCATTTGGCTTGGCCCTGGCTACACTGGTGCAGTCTGTGGGC
CACATCAGTGGAGCCCACGTCAATCCTGCAGTCACTTTTGCTTTCCTTGTGGGCTCCCAG
ATGTCCCTGCTCCGTGCCTTCTGCTATATGGCAGCCCAGCTCCTGGGAGCTGTGGCTGGG
GCCGCTGTGCTGTATAGCGTTACCCCACCTGCTGTCCGAGGAAACCTAGCACTCAACACG
TTGCACCCTGCGGTGAGCGTGGGCCAGGCAACCACAGTGGAGATCTTCCTGACGCTCCAG
TTCGTGCTCTGCATCTTTGCCACATACGACGAGAGGCGGAATGGCCAACTGGGCTCCGTG
GCCCTGGCCGTTGGCTTCTCCCTTGCCCTGGGGCACCTCTTTGGGATGTATTATACTGGT
GCAGGCATGAATCCTGCCCGCTCCTTTGCTCCTGCCATTCTCACTGGGAACTTCACTAAC
CACTGGGTGTACTGGGTAGGCCCAATCATTGGAGGGGGTCTGGGCAGCCTCCTGTACGAC
TTTCTTCTCTTCCCCCGGCTCAAGAGTATTTCTGAGAGACTGTCTGTCCTCAAGGGTGCC
AAACCCGATGTCTCCAATGGACAACCAGAGGTCACAGGGGAACCTGTTGAACTGAACACC
CAGGCCCTGTAG
GenBank Gene IDBC074913
GeneCard IDNot Available
GenAtlas IDNot Available
HGNC IDHGNC:7103
Chromosome Location12
Locus12q13
References
  1. Pisano MM, Chepelinsky AB: Genomic cloning, complete nucleotide sequence, and structure of the human gene encoding the major intrinsic protein (MIP) of the lens. Genomics. 1991 Dec;11(4):981-90. 1840563
  2. Scherer SE, Muzny DM, Buhay CJ, Chen R, Cree A, Ding Y, Dugan-Rocha S, Gill R, Gunaratne P, Harris RA, Hawes AC, Hernandez J, Hodgson AV, Hume J, Jackson A, Khan ZM, Kovar-Smith C, Lewis LR, Lozado RJ, Metzker ML, Milosavljevic A, Miner GR, Montgomery KT, Morgan MB, Nazareth LV, Scott G, Sodergren E, Song XZ, Steffen D, Lovering RC, Wheeler DA, Worley KC, Yuan Y, Zhang Z, Adams CQ, Ansari-Lari MA, Ayele M, Brown MJ, Chen G, Chen Z, Clerc-Blankenburg KP, Davis C, Delgado O, Dinh HH, Draper H, Gonzalez-Garay ML, Havlak P, Jackson LR, Jacob LS, Kelly SH, Li L, Li Z, Liu J, Liu W, Lu J, Maheshwari M, Nguyen BV, Okwuonu GO, Pasternak S, Perez LM, Plopper FJ, Santibanez J, Shen H, Tabor PE, Verduzco D, Waldron L, Wang Q, Williams GA, Zhang J, Zhou J, Allen CC, Amin AG, Anyalebechi V, Bailey M, Barbaria JA, Bimage KE, Bryant NP, Burch PE, Burkett CE, Burrell KL, Calderon E, Cardenas V, Carter K, Casias K, Cavazos I, Cavazos SR, Ceasar H, Chacko J, Chan SN, Chavez D, Christopoulos C, Chu J, Cockrell R, Cox CD, Dang M, Dathorne SR, David R, Davis CM, Davy-Carroll L, Deshazo DR, Donlin JE, D'Souza L, Eaves KA, Egan A, Emery-Cohen AJ, Escotto M, Flagg N, Forbes LD, Gabisi AM, Garza M, Hamilton C, Henderson N, Hernandez O, Hines S, Hogues ME, Huang M, Idlebird DG, Johnson R, Jolivet A, Jones S, Kagan R, King LM, Leal B, Lebow H, Lee S, LeVan JM, Lewis LC, London P, Lorensuhewa LM, Loulseged H, Lovett DA, Lucier A, Lucier RL, Ma J, Madu RC, Mapua P, Martindale AD, Martinez E, Massey E, Mawhiney S, Meador MG, Mendez S, Mercado C, Mercado IC, Merritt CE, Miner ZL, Minja E, Mitchell T, Mohabbat F, Mohabbat K, Montgomery B, Moore N, Morris S, Munidasa M, Ngo RN, Nguyen NB, Nickerson E, Nwaokelemeh OO, Nwokenkwo S, Obregon M, Oguh M, Oragunye N, Oviedo RJ, Parish BJ, Parker DN, Parrish J, Parks KL, Paul HA, Payton BA, Perez A, Perrin W, Pickens A, Primus EL, Pu LL, Puazo M, Quiles MM, Quiroz JB, Rabata D, Reeves K, Ruiz SJ, Shao H, Sisson I, Sonaike T, Sorelle RP, Sutton AE, Svatek AF, Svetz LA, Tamerisa KS, Taylor TR, Teague B, Thomas N, Thorn RD, Trejos ZY, Trevino BK, Ukegbu ON, Urban JB, Vasquez LI, Vera VA, Villasana DM, Wang L, Ward-Moore S, Warren JT, Wei X, White F, Williamson AL, Wleczyk R, Wooden HS, Wooden SH, Yen J, Yoon L, Yoon V, Zorrilla SE, Nelson D, Kucherlapati R, Weinstock G, Gibbs RA: The finished DNA sequence of human chromosome 12. Nature. 2006 Mar 16;440(7082):346-51. 16541075
  3. 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
  4. Schey KL, Little M, Fowler JG, Crouch RK: Characterization of human lens major intrinsic protein structure. Invest Ophthalmol Vis Sci. 2000 Jan;41(1):175-82. 10634618
  5. Berry V, Francis P, Kaushal S, Moore A, Bhattacharya S: Missense mutations in MIP underlie autosomal dominant 'polymorphic' and lamellar cataracts linked to 12q. Nat Genet. 2000 May;25(1):15-7. 10802646
  6. Geyer DD, Spence MA, Johannes M, Flodman P, Clancy KP, Berry R, Sparkes RS, Jonsen MD, Isenberg SJ, Bateman JB: Novel single-base deletional mutation in major intrinsic protein (MIP) in autosomal dominant cataract. Am J Ophthalmol. 2006 Apr;141(4):761-3. 16564824
  7. Francis P, Chung JJ, Yasui M, Berry V, Moore A, Wyatt MK, Wistow G, Bhattacharya SS, Agre P: Functional impairment of lens aquaporin in two families with dominantly inherited cataracts. Hum Mol Genet. 2000 Sep 22;9(15):2329-34. 11001937
  8. Gu F, Zhai H, Li D, Zhao L, Li C, Huang S, Ma X: A novel mutation in major intrinsic protein of the lens gene (MIP) underlies autosomal dominant cataract in a Chinese family. Mol Vis. 2007 Sep 11;13:1651-6. 17893667
  9. Lin H, Hejtmancik JF, Qi Y: A substitution of arginine to lysine at the COOH-terminus of MIP caused a different binocular phenotype in a congenital cataract family. Mol Vis. 2007 Sep 30;13:1822-7. 17960133
  10. Wang W, Jiang J, Zhu Y, Li J, Jin C, Shentu X, Yao K: A novel mutation in the major intrinsic protein (MIP) associated with autosomal dominant congenital cataracts in a Chinese family. Mol Vis. 2010 Mar 25;16:534-9. 20361015
  11. Wang KJ, Li SS, Yun B, Ma WX, Jiang TG, Zhu SQ: A novel mutation in MIP associated with congenital nuclear cataract in a Chinese family. Mol Vis. 2011 Jan 8;17:70-7. 21245956