SLC4A11

Protein name: BTR1 Aliases: NaBC1 Substrates: sodium, borate Transport type: Cotransporter Tissue and cellular expression: kidney, salivary gland testis, thyroid, trachea Subcellular expression: N/D Disease: N/D Locus: 20p12 Sequence ID: NP_001167560.1, NM_001174089.1 NP_001167561.1, NM_001174090.1 NP_114423.1, NM_032034.3 Gene ID: 83959 Splice variants: 1

S4A11_HUMAN (UniProt)

Gene names: SLC4A11, BTR1
Protein names and data: S4A11_HUMAN, Full=Sodium bicarbonate transporter-like protein 11, Full=Bicarbonate transporter-related protein 1;Full=Sodium borate cotransporter 1;Short=NaBC1;Full=Solute carrier family 4 member 11; Length: 891 a.a., Mass: 99581 Da,
fasta formatted sequence
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
Disease: (OMIM: 217400 217700 610206 613268) Defects in SLC4A11 are the cause of corneal dystrophy and perceptive deafness (CDPD) [MIM:217400]; 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) [MIM:217700]; 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) [MIM:613268]; 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
Cellular location: Cell membrane. Membrane; Multi-pass membrane protein
Tissue specificity: Widely expressed. Highly expressed in kidney, testis, salivary gland, thyroid, trachea and corneal endothelium. Not detected in retina and lymphocytes

Database cross-references

UniProt: Q8NBS3
NextBio: 73102
OMIM: 217400 217700 610206 613268
Ensembl: ENST00000437836
GeneCard: GC20M003203
TCDB: 2.A.31.4.1
PharmGenUCSF: SLC4A11
Guide to Pharmacology: SLC4A11 (913)
Sodium-dependent HCO₃^- transporters (913)
HGNC: HGNC:16438

Genetic variants

See also Ensembl:ENST00000437836

72 - 72 N -> T. VAR_047806
91 - 91 M -> V. VAR_047807
125 - 125 R -> H (in CHED2). VAR_063713
143 - 143 E -> K (in CHED2; the mutant protein is retained intracellularly; coexpression with wild-type protein partially rescues the cell surface trafficking of CHED2 mutant). VAR_067272
150 - 150 N -> S (in dbSNP:rs34520315). VAR_034944 34520315
160 - 160 A -> T (in CHED2). VAR_034945
167 - 167 E -> D (in FECD4; interferes with post- translational processing; the mutant protein localizes to the cytoplasm). VAR_064422
209 - 209 R -> W (in CHED2). VAR_064978
213 - 213 S -> L (in CHED2). VAR_064979
213 - 213 S -> P (in CDPD). VAR_034946
233 - 233 R -> C (in CHED2). VAR_064980
269 - 269 A -> V (in CHED2; affects transport to the cell surface). VAR_063714
282 - 282 R -> P (in FECD4; interferes with post- translational processing; the mutant protein localizes to the cytoplasm). VAR_064423
327 - 327 A -> V. VAR_047808
386 - 386 C -> R (in CHED2; the mutant protein is retained intracellularly; coexpression with wild-type protein partially rescues the cell surface trafficking of CHED2 mutant). VAR_063715
394 - 394 G -> R (in CHED2). VAR_064981
399 - 399 E -> K (in FECD4; affects protein processing and transport to the cell surface; the mutant protein is retained intracellularly; coexpression with wild- type protein does not rescue the cell surface trafficking of FECD4 mutant). VAR_047809
401 - 401 T -> K (in CHED2). VAR_064982
408 - 408 Q -> H. VAR_015521
409 - 409 K -> N. VAR_015522
418 - 418 G -> D (in CHED2). VAR_064983
464 - 464 G -> D (in CHED2; affects protein processing and transport to the cell surface). VAR_030662
473 - 473 L -> R (in CHED2). VAR_064984
483 - 483 M -> T. VAR_015523
488 - 488 R -> K (in CDPD). VAR_034947
489 - 489 S -> L (in CHED2; affects protein processing and transport to the cell surface). VAR_030663
526 - 526 Y -> C (in FECD4; does not interferes with post-translational processing; the mutant protein partially localizes to the cytoplasm). VAR_064424
561 - 561 T -> M. VAR_047810
565 - 565 S -> L. VAR_047811
575 - 575 V -> M (in FECD4; does not interferes with post-translational processing; the mutant protein partially localizes to the cytoplasm). VAR_064425
583 - 583 G -> D (in FECD4; interferes with post- translational processing; the mutant protein localizes to the cytoplasm). VAR_064426
584 - 584 T -> K (in CHED2). VAR_064985
708 - 708 T -> A. VAR_015524
709 - 709 G -> E (in FECD4; affects protein processing and transport to the cell surface; the mutant protein is retained intracellularly; coexpression with wild- type protein does not rescue the cell surface trafficking of FECD4 mutant). VAR_047812
742 - 742 G -> R (in FECD4; interferes with post- translational processing; the mutant protein partially localizes to the cytoplasm). VAR_064427
754 - 754 T -> M (in FECD4; affects protein processing and transport to the cell surface; the mutant protein is retained intracellularly; coexpression with wild- type protein does not rescue the cell surface trafficking of FECD4 mutant). VAR_047813
755 - 755 R -> Q (in CHED2; affects protein processing and transport to the cell surface; the mutant protein is retained intracellularly; coexpression with wild- type protein partially rescues the cell surface trafficking of CHED2 mutant). VAR_030664
755 - 755 R -> W (in CHED2). VAR_063716
773 - 773 P -> L (in CHED2). VAR_063717
804 - 804 R -> H (in CHED2). VAR_034948
824 - 824 V -> M (in CHED2; deafness not assessed). VAR_034949
833 - 833 T -> M (in CHED2). VAR_034950
834 - 834 G -> S (in FECD4; does not interferes with post-translational processing; the mutant protein partially localizes to the cytoplasm). VAR_064428
843 - 843 L -> P (in CDPD). VAR_034951
848 - 848 M -> I (in dbSNP:rs34224785). VAR_034952 34224785
856 - 856 M -> V (in CDPD). VAR_034953
869 - 869 R -> C (in CHED2; affects protein processing and transport to the cell surface). VAR_030665
869 - 869 R -> H (in CHED2). VAR_034954
873 - 873 L -> P (in CHED2). VAR_063718

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