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Gene Model: Mip

NomenclatureGenomic Location
SymbolMipChromosome1
NameLens fiber major intrinsic proteinLinkage mapunknown
SpeciesDracomimus familiarisGenome Coordinates1: 50 Mbp

Molecular Function

Water channel. 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.

Molecular Function Terms:

structural molecule activity
   structural constituent of eye lens

transporter activity
   substrate-specific transporter activity
      substrate-specific transmembrane transporter activity
         substrate-specific channel activity
            water channel activity
         water transmembrane transporter activity
   transmembrane transporter activity
      passive transmembrane transporter activity
         channel activity
            substrate-specific channel activity
               water channel activity

Human Disease Association

Defects in MIP are a cause of cataract autosomal dominant (ADC) [MIM:604219]. Cataract is an opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. In general, the more posteriorly located and dense an opacity, the greater the impact on visual function. Cataract is the most common treatable cause of visual disability in childhood.

Predicted Transcript
     1 ATGTGGGAGGCACGCTCATCCTCCTTCTGGAGGGCTATCTTCGCTGAGTTTTTTGGCACC
    61 CTGATCTATGTACTTTTTGGCCTGGGGGTCTCGCTGCGTTCGGTCATGGGCCCCTTGAAC
   121 ATTCTGCAAGTGGCCCTGGCCTTTGGTTTGGTGGCAGCCACTATGGTGCAGTCTCTCGGC
   181 CATGTGAGCGGGGCCCATATCAACCCGGCTGTCACCGTGGCCTTCCTCCTGAGCGCTCAG
   241 CTTTCCCTCTTCCGCGCGGTCTTCTACGTGGCTGCCCAGGTGCTGGGAGGAGTGGCCGGC
   301 GCGGCTGTGCTTTATGGAATTACGCCGGTGGCATTGAGGGGTAACTTGGCCCTCAACACG
   361 TTGCACCCCAGTGTAAATGTAGGCCAAGCCATCCTTGTGGAGATCTTCCTGACCCTGCAG
   421 TTTGTCCTCTGCATCTTCGCTACCTATGACGAGAGACGTAACCACCGCATGGGATCCGTG
   481 GCACTGGCTGTGGGACTCTCCCTGACTCTTGGACACCTCTTTGGGATGCACTACACTGGA
   541 GCTGGCATGAATCCCGCTCGTTCTTTTGCACCAGCTATCATCACCCGTAACTTCGTCAAC
   601 CACTGGGTGTATTGGGTCGGACCAGTCATTGGTGGTGTGCTGGGAGGCTTCTTGTATGAC
   661 TTCATCCTCTGCCCTCGGATGCGTGGAATCTCAGAGCGCTTGTCTATCCTCAAAGGAGAA
   721 CACCAACTTGAAACCAATGCACCCCCAGAACCTCCTGGAGAACCTATTGAGCTGACAACG
   781 CAAGCGTTATAA

Predicted Protein Product
MWEARSSSFWRAIFAEFFGTLIYVLFGLGVSLRSVMGPLNILQVALAFGLVAATMVQSLG
HVSGAHINPAVTVAFLLSAQLSLFRAVFYVAAQVLGGVAGAAVLYGITPVALRGNLALNT
LHPSVNVGQAILVEIFLTLQFVLCIFATYDERRNHRMGSVALAVGLSLTLGHLFGMHYTG
AGMNPARSFAPAIITRNFVNHWVYWVGPVIGGVLGGFLYDFILCPRMRGISERLSILKGE
HQLETNAPPEPPGEPIELTTQAL
Protein Alignment to Mouse
sp|P51180|MIP_MOUSE Lens fiber major intrinsic protein OS=Mus musculus GN=Mip
            PE=1 SV=2
      MGI:96990 Mip major intrinsic protein of eye lens fiber (Chr 10)
        Length = 263

 Score = 962 (343.7 bits), Expect = 1.7e-97, P = 1.7e-97
 Identities = 184/263 (69%), Positives = 208/263 (79%)

Query:     1 MWEARSSSFWRAIFAEFFGTLIYVLFGLGVSLRSVMGPLNILQVALAFGLVAATMVQSLG 60
             MWE RS+SFWRAIFAEFF TL YV FGLG SLR   GPL++LQVALAFGL  AT+VQ++G
Sbjct:     1 MWELRSASFWRAIFAEFFATLFYVFFGLGASLRWAPGPLHVLQVALAFGLALATLVQTVG 60

Query:    61 HVSGAHINPAVTVAFLLSAQLSLFRAVFXXXXXXXXXXXXXXXXXXITPVALRGNLALNT 120
             H+SGAH+NPAVT AFL+ +Q+SL RA                    +TP A+RGNLALNT
Sbjct:    61 HISGAHVNPAVTFAFLVGSQMSLLRAFCYIAAQLLGAVAGAAVLYSVTPPAVRGNLALNT 120

Query:   121 LHPSVNVGQAILVEIFLTLQFVLCIFATYDERRNHRMGSVALAVGLSLTLGHLFGMHYTG 180
             LH  V+VGQA  VEIFLTLQFVLCIFATYDERRN RMGSVALAVG SLTLGHLFGM+YTG
Sbjct:   121 LHAGVSVGQATTVEIFLTLQFVLCIFATYDERRNGRMGSVALAVGFSLTLGHLFGMYYTG 180

Query:   181 AGMNPARSFAPAIITRNFVNHWVYWVGPVIGGVLGGFLYDFILCPRMRGISERLSILKGE 240
             AGMNPARSFAPAI+TRNF NHWVYWVGP+IGG LG  LYDF+L PR++ +SERLSILKG 
Sbjct:   181 AGMNPARSFAPAILTRNFSNHWVYWVGPIIGGGLGSLLYDFLLFPRLKSVSERLSILKGA 240

Query:   241 HQLETNAPPEPPGEPIELTTQAL 263
                ++N  PE  GEP+EL TQAL
Sbjct:   241 RPSDSNGQPEGTGEPVELKTQAL 263