|
InnateDB Protein
|
IDBP-363688.5
|
|
Last Modified
|
2014-10-13 [Report errors or provide feedback]
|
|
Gene Symbol
|
SLC4A11
|
|
Protein Name
|
solute carrier family 4, sodium borate transporter, member 11
|
|
Synonyms
|
|
|
Species
|
Homo sapiens
|
|
Ensembl Protein
|
ENSP00000404271
|
|
InnateDB Gene
|
IDBG-46485 (SLC4A11)
|
|
Protein Structure
|
|
| Function |
Transporter which plays an important role in sodium- mediated fluid transport in different organs. Prevents severe morphological changes of the cornea caused by increased sodium chloride concentrations in the stroma. In the inner ear, is involved in transport of potassium through the fibrocyte layer to the stria vascularis and is essential for the generation of the endocochlear potential but not for regulation of potassium concentrations in the endolymph. In the kidney, is essential for urinary concentration, mediates a sodium flux into the thin descending limb of Henle loop to allow countercurrent multiplication by osmotic equilibration (By similarity). Involved in borate homeostasis. In the absence of borate, it functions as a Na(+) and OH(-)(H(+)) channel. In the presence of borate functions as an electrogenic Na(+) coupled borate cotransporter. {ECO:0000250, ECO:0000269PubMed:15525507}.
|
| Subcellular Localization |
Cell membrane {ECO:0000269PubMed:18024964}. Membrane {ECO:0000269PubMed:18024964}; Multi-pass membrane protein {ECO:0000269PubMed:18024964}.
|
| Disease Associations |
Corneal dystrophy and perceptive deafness (CDPD) [MIM:217400]: An ocular disease characterized by the association of corneal clouding with progressive perceptive hearing loss. {ECO:0000269PubMed:17220209}. Note=The disease is caused by mutations affecting the gene represented in this entry.Corneal dystrophy, endothelial 2, autosomal recessive (CHED2) [MIM:217700]: A congenital corneal dystrophy characterized by thickening and opacification of the cornea, altered morphology of the endothelium, and secretion of an abnormal collagenous layer at the Descemet membrane. {ECO:0000269PubMed:16767101, ECO:0000269PubMed:16825429, ECO:0000269PubMed:17220209, ECO:0000269PubMed:17397048, ECO:0000269PubMed:17679935, ECO:0000269PubMed:18474783, ECO:0000269PubMed:19369245, ECO:0000269PubMed:20108384, ECO:0000269PubMed:21203343}. Note=The disease is caused by mutations affecting the gene represented in this entry.Corneal dystrophy, Fuchs endothelial, 4 (FECD4) [MIM:613268]: A corneal disease caused by loss of endothelium of the central cornea. It is characterized by focal wart-like guttata that arise from Descemet membrane and develop in the central cornea, epithelial blisters, reduced vision and pain. Descemet membrane is thickened by abnormal collagenous deposition. {ECO:0000269PubMed:18024964, ECO:0000269PubMed:20848555}. Note=The disease is caused by mutations affecting the gene represented in this entry.
|
| Tissue Specificity |
Widely expressed. Highly expressed in kidney, testis, salivary gland, thyroid, trachea and corneal endothelium. Not detected in retina and lymphocytes. {ECO:0000269PubMed:11302728, ECO:0000269PubMed:16767101}.
|
| Comments |
|
|
Number of Interactions
|
This gene and/or its encoded proteins are associated with 1 experimentally validated interaction(s) in this database.
| Experimentally validated |
| Total |
1
[view]
|
| Protein-Protein |
1
[view]
|
| Protein-DNA |
0
|
| Protein-RNA |
0
|
| DNA-DNA |
0
|
| RNA-RNA |
0
|
| DNA-RNA |
0
|
|
|
|
| PDB ID |
|
| InterPro |
|
| PFAM |
|
| PRINTS |
|
| PIRSF |
|
| SMART |
|
| TIGRFAMs |
|
| Modification |
|
| SwissProt |
|
| PhosphoSite |
PhosphoSite-Q8NBS3
|
| TrEMBL |
V9GXZ2
|
| UniProt Splice Variant |
|
| Entrez Gene |
83959
|
| UniGene |
Hs.105607
|
| RefSeq |
|
| HUGO |
HGNC:16438
|
| OMIM |
610206
|
| CCDS |
|
| HPRD |
15392
|
| IMGT |
|
| EMBL |
AL109976
KC202909
KC202910
|
| GenPept |
AGN70982
AGN70983
|
|
|
|
Version 5.4