Protein Details: Aquaporin-0n
Protein ID
ICDB_Pro_0473
Protein Name
Aquaporin-0n
Gene Name
MIP; AQP0
Organism
Homo sapiens (Human)
Length
263 amino acids
AlphaFoldDB
AF-P30301-F1-model_v4.pdb
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). Plays a role in cell-to-cell adhesion and facilitates gap junction coupling .
Sequence
PDB Structures
Ligand Binding
Binding Site
SITE 149: "Important for water channel gating"; SITE 246: "Interaction with BFSP1"; SITE 250: "interaction with BFSP1";
Disease
Cataract 15;Multiple Types and Persistent Hyperplastic Primary Vitreous
Location
Expressed in the cortex and nucleus of the retina lens (at protein level) (PubMed:30790544). Major component of lens fiber gap junctions (PubMed:24120416).
DOI ID
10.1016/0888-7543(91)90023-8; 10.1038/nature04569; 10.1101/gr.2596504; 10.1038/75538; 10.1016/j.ajo.2005.11.008; 10.1016/j.bbamem.2016.06.026; 10.1016/j.exer.2019.02.001; 10.1093/oxfordjournals.hmg.a018925; 10.1016/j.exer.2012.10.010; 10.1016/j.exer.2013.09.019; 10.1371/journal.pone.0126679; 10.1534/g3.117.300109; 10.1186/s13023-018-0828-0
RefSeq
NP_036196.1;