SLC4A11 - solute carrier family 4 member 11 (human)
Gene
Symbol
Taxonomy
Dates
- Create:2016-09-14
- Modify:2025-01-19
Description
This gene encodes a voltage-regulated, electrogenic sodium-coupled borate cotransporter that is essential for borate homeostasis, cell growth and cell proliferation. Mutations in this gene have been associated with a number of endothelial corneal dystrophies including recessive corneal endothelial dystrophy 2, corneal dystrophy and perceptive deafness, and Fuchs endothelial corneal dystrophy. Multiple transcript variants encoding different isoforms have been described. [provided by RefSeq, Mar 2010]
Enables several functions, including active borate transmembrane transporter activity; monoatomic cation channel activity; and water transmembrane transporter activity. Involved in several processes, including bicarbonate transport; cellular hypotonic response; and monoatomic cation transport. Located in apical plasma membrane and basolateral plasma membrane. Implicated in Fuchs' endothelial dystrophy; congenital hereditary endothelial dystrophy of cornea; and corneal dystrophy-perceptive deafness syndrome.
- BTR1
- CDPD1
- CHED
- CHED2
- NABC1
- dJ794I6.2
- bicarbonate transporter related protein 1
- sodium-coupled borate cotransporter 1
- solute carrier family 4, sodium bicarbonate transporter-like, member 11
- solute carrier family 4, sodium borate transporter, member 11
- Bicarbonate Transporter-Related Protein 1
- SLC4A11 Protein
- Sodium Borate Cotransporter 1
- Solute Carrier Family 4 Member 11
- Solute Carrier Family 4, Sodium Bicarbonate Cotransporter, Member 11
Multifunctional transporter with an impact in cell morphology and differentiation. In the presence of borate B(OH)4(-), acts as a voltage-dependent electrogenic Na(+)-coupled B(OH)4(-) cotransporter controlling boron homeostasis (PMID: 15525507). At early stages of stem cell differentiation, participates in synergy with ITGA5-ITGB1 and ITGAV-ITGB3 integrins and BMPR1A to promote cell adhesion and contractility that drives differentiation toward osteogenic commitment while inhibiting adipogenesis (By similarity). In the absence of B(OH)4(-), acts as a Na(+)-coupled OH(-) or H(+) permeable channel with implications in cellular redox balance (PMID: 15525507, PMID: 28642546). Regulates the oxidative stress response in corneal endothelium by enhancing antioxidant defenses and protecting cells from reactive oxygen species (PMID: 28642546). In response to hypo-osmotic challenge, also acts as a water permeable channel at the basolateral cell membrane of corneal endothelial cells and facilitates transendothelial fluid reabsorption in the aqueous humor (PMID: 23813972, PMID: 25007886, PMID: 31273259). In the presence of ammonia, acts as an electrogenic NH3/H(+) cotransporter and may play a role in ammonia transport and reabsorption in renal Henle's loop epithelium (PMID: 27581649).
Isoform
UniProt ID
RefSeq Accession
Highly accurate protein structure prediction with AlphaFold. Nature. 2021 Aug;596(7873):583-589. DOI:10.1038/s41586-021-03819-2. PMID:34265844; PMCID:PMC8371605
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