InnateDB Protein
|
IDBP-196887.6
|
Last Modified
|
2014-10-13 [Report errors or provide feedback]
|
Gene Symbol
|
Mip
|
Protein Name
|
major intrinsic protein of eye lens fiber
|
Synonyms
|
Aqp0; Cat; Hfi; Lop; MIP26; shrivelled; Svl;
|
Species
|
Mus musculus
|
Ensembl Protein
|
ENSMUSP00000026455
|
InnateDB Gene
|
IDBG-196885 (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 |
Note=Defects in Mip are a cause of autosomal dominant cataract. The cataract Fraser mutation (Cat-Fr or Shrivelled) is a transposon-induced splicing error that substitutes a long terminal repeat sequence for the C-terminus of Mip. The lens opacity mutation (LOP) is an AA substitution that inhibits targeting of Mip to the cell-membrane.
|
Tissue Specificity |
Major component of lens fiber gap junctions.
|
Comments |
|
Number of Interactions
|
This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
They are also associated with 5 interaction(s) predicted by orthology.
|
Predicted by orthology |
Total |
5 [view]
|
|
|
Molecular Function |
|
Biological Process |
|
Cellular Component |
|
PDB ID |
MGI:96990
|
InterPro |
IPR000425
Major intrinsic protein
IPR023271
Aquaporin-like
|
PFAM |
PF00230
|
PRINTS |
PR00783
|
PIRSF |
|
SMART |
|
TIGRFAMs |
|
Modification |
|
SwissProt |
P51180
|
PhosphoSite |
PhosphoSite-P51180
|
TrEMBL |
|
UniProt Splice Variant |
|
Entrez Gene |
17339
|
UniGene |
Mm.31625
|
RefSeq |
NP_032626
|
MGI ID |
|
MGI Symbol |
Mip
|
OMIM |
|
CCDS |
CCDS24265
|
HPRD |
|
IMGT |
|
EMBL |
AF000143
AK053490
AK053494
AK136287
U27502
|
GenPept |
AAC03168
AAC52416
BAC35401
BAC35402
BAE22916
|
|
|