InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: SLC4A11

Summary

InnateDB Protein

IDBP-46487.7

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

ENSP00000369399

InnateDB Gene

IDBG-46485 (SLC4A11)

Protein Structure

UniProt Annotation

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

Interactions

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

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005215	transporter activity

Biological Process

GO:0006810	transport
GO:0006820	anion transport
GO:0042044	fluid transport
GO:0050801	ion homeostasis

Cellular Component

GO:0016021

integral component of membrane

Protein Structure and Domains

PDB ID

InterPro

IPR002178 PTS EIIA type-2 domain
IPR003020 Bicarbonate transporter, eukaryotic
IPR011531 Bicarbonate transporter, C-terminal
IPR016152 Phosphotransferase/anion transporter

PFAM

PF00359
PF00955

PRINTS

PR01231

PIRSF

SMART

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt

PhosphoSite