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
|
|
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 |
|
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
|
|
|
|
Molecular Function |
|
Biological Process |
|
Cellular Component |
|
PDB ID |
|
InterPro |
IPR000425
Major intrinsic protein
IPR023271
Aquaporin-like
|
PFAM |
PF00230
|
PRINTS |
PR00783
|
PIRSF |
|
SMART |
|
TIGRFAMs |
|
Modification |
|
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
|
|
|