Lens fiber major intrinsic protein
Details
- Name
- Lens fiber major intrinsic protein
- Synonyms
- AQP0
- Aquaporin-0
- MIP26
- MP26
- Gene Name
- MIP
- Organism
- Humans
- Amino acid sequence
>lcl|BSEQ0012721|Lens fiber major intrinsic protein MWELRSASFWRAIFAEFFATLFYVFFGLGSSLRWAPGPLHVLQVAMAFGLALATLVQSVG HISGAHVNPAVTFAFLVGSQMSLLRAFCYMAAQLLGAVAGAAVLYSVTPPAVRGNLALNT LHPAVSVGQATTVEIFLTLQFVLCIFATYDERRNGQLGSVALAVGFSLALGHLFGMYYTG AGMNPARSFAPAILTGNFTNHWVYWVGPIIGGGLGSLLYDFLLFPRLKSISERLSVLKGA KPDVSNGQPEVTGEPVELNTQAL
- Number of residues
- 263
- Molecular Weight
- 28121.5
- Theoretical pI
- 8.67
- GO Classification
- Functionscalmodulin binding / glycerol channel activity / structural constituent of eye lens / transporter activity / water channel activityProcessescanalicular bile acid transport / cellular water homeostasis / glycerol transport / ion transmembrane transport / lens development in camera-type eye / response to stimulus / transmembrane transport / visual perception / water transportComponentsapical plasma membrane / gap junction / integral component of plasma membrane / intracellular canaliculus / intracellular membrane-bounded organelle / plasma membrane
- General Function
- Water channel activity
- Specific Function
- Water 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
- MIP (PF00230)
- Transmembrane Regions
- 9-32 39-61 85-107 127-147 160-176 201-219
- Cellular Location
- Cell 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
- Chromosome Location
- 12
- Locus
- 12q13
- External Identifiers
Resource Link UniProtKB ID P30301 UniProtKB Entry Name MIP_HUMAN GenBank Protein ID 49902494 GenBank Gene ID BC074913 HGNC ID HGNC:7103 - General References
- 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. [Article]
- 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. [Article]
- 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. [Article]
- 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. [Article]
- 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. [Article]
- 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. [Article]
- 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. [Article]
- 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. [Article]
- 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. [Article]
- 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. [Article]
- 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. [Article]