Homo sapiens Protein: MIP
Summary
InnateDB Protein IDBP-41088.5
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol MIP
Protein Name major intrinsic protein of lens fiber
Synonyms AQP0; CTRCT15; LIM1; MIP26; MP26;
Species Homo sapiens
Ensembl Protein ENSP00000257979
InnateDB Gene IDBG-41086 (MIP)
Protein Structure
UniProt Annotation
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). {ECO:0000250}.
Subcellular Localization Cell membrane; Multi-pass membrane protein. Cell junction, gap junction.
Disease Associations Cataract 15, multiple types (CTRCT15) [MIM:615274]: 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. CTRCT15 includes polymorphic, progressive punctate lamellar, cortical, anterior and posterior polar, nonprogressive lamellar with sutural opacities, embryonic nuclear, and pulverulent cortical, among others. {ECO:0000269PubMed:10802646, ECO:0000269PubMed:11001937, ECO:0000269PubMed:16564824}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Tissue Specificity Major component of lens fiber gap junctions.
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 5 experimentally validated interaction(s) in this database.
Experimentally validated
Total 5 [view]
Protein-Protein 5 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0005212 structural constituent of eye lens
GO:0005215 transporter activity
GO:0005515 protein binding
GO:0005516 calmodulin binding
GO:0015250 water channel activity
Biological Process
GO:0002088 lens development in camera-type eye
GO:0006810 transport
GO:0006833 water transport
GO:0007601 visual perception
GO:0015722 canalicular bile acid transport
GO:0050896 response to stimulus
GO:0055085 transmembrane transport
Cellular Component
GO:0005886 plasma membrane
GO:0005887 integral component of plasma membrane
GO:0005921 gap junction
GO:0016020 membrane
GO:0043231 intracellular membrane-bounded organelle
GO:0046691 intracellular canaliculus
Protein Structure and Domains
PDB ID
InterPro IPR000425 Major intrinsic protein
IPR023271 Aquaporin-like
PFAM PF00230
PRINTS PR00783
PIRSF
SMART
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt P30301
PhosphoSite PhosphoSite-P30301
TrEMBL
UniProt Splice Variant
Entrez Gene 4284
UniGene Hs.574026
RefSeq NP_036196
HUGO HGNC:7103
OMIM 154050
CCDS CCDS8919
HPRD 01098
IMGT
EMBL AC024884 BC074913 BC117474 U36308
GenPept AAC02794 AAH74913 AAI17475