NP_114423.1
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NCBI GenBank Nucleotide #
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UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
103,145 Da
NCBI Official Full Name
sodium bicarbonate transporter-like protein 11 isoform 2
NCBI Official Synonym Full Names
solute carrier family 4 member 11
NCBI Official Synonym Symbols
BTR1; CHED; CDPD1; CHED2; NABC1; dJ794I6.2 [Similar Products]
NCBI Protein Information
sodium bicarbonate transporter-like protein 11
UniProt Protein Name
Sodium bicarbonate transporter-like protein 11
UniProt Synonym Protein Names
Bicarbonate transporter-related protein 1; Sodium borate cotransporter 1; NaBC1; Solute carrier family 4 member 11
UniProt Synonym Gene Names
UniProt Entry Name
S4A11_HUMAN
NCBI Summary for SLC4A11
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]
UniProt Comments for SLC4A11
SLC4A11: 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. 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. Defects in SLC4A11 are the cause of corneal dystrophy and perceptive deafness (CDPD); also known as corneal dystrophy and sensorineural deafness or Harboyan syndrome. CDPD consists of congenital corneal endothelial dystrophy and progressive perceptive deafness. Inheritance is autosomal recessive. Defects in SLC4A11 are the cause of corneal endothelial dystrophy type 2 (CHED2); also known as congenital hereditary endothelial dystrophy of cornea. This bilateral corneal dystrophy is characterized by corneal opacification and nystagmus. Inheritance is autosomal recessive. Defects in SLC4A11 are the cause of corneal dystrophy Fuchs endothelial type 4 (FECD4); also known as Corneal dystrophy Fuchs endothelial late-onset. It is an ocular disorder 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. Belongs to the anion exchanger (TC 2.A.31) family. 2 isoforms of the human protein are produced by alternative splicing.
Protein type: Membrane protein, multi-pass; Membrane protein, integral
Chromosomal Location of Human Ortholog: 20p12
Cellular Component: basolateral plasma membrane; integral to plasma membrane
Molecular Function: bicarbonate transmembrane transporter activity; boron transporter activity; hydrogen ion channel activity; inorganic anion exchanger activity; protein dimerization activity; sodium channel activity; symporter activity
Biological Process: bicarbonate transport; boron transport; cellular cation homeostasis; fluid transport; proton transport; regulation of intracellular pH; sodium ion transport
Disease: Corneal Dystrophy And Perceptive Deafness; Corneal Dystrophy, Fuchs Endothelial, 4; Corneal Endothelial Dystrophy 2, Autosomal Recessive
Research Articles on SLC4A11
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Diseases associated with SLC4A11 blocking peptide
Organs/Tissues associated with SLC4A11 blocking peptide
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