SLC4A11
entrez
83959
canonical
uniprot
Q8NBS3
canonical
ensembl
ENSG00000088836
resolver
ensp
ENSP00000369396
resolver
ensp
ENSP00000369399
resolver
ensp
ENSP00000493503
resolver
ensp
ENSP00000493824
resolver
ensp
ENSP00000495050
resolver
ensp
ENSP00000546718
resolver
enst
ENST00000647296
resolver
genesymbol
SLC4A11
resolver
genesymbol_syn
BTR1
resolver
hgnc
HGNC:16438
resolver
uniprot
A0A2R8YFD9
resolver
uniprot
B4DKC8
resolver
uniprot
B4DKX9
resolver
uniprot
G3V1M3
resolver
uniprot
Q2TB62
resolver
uniprot
Q2TB63
resolver
uniprot
Q9BXF4
resolver
uniprot
Q9NTW9
resolver
uniprot_entry
A0A2R8YFD9_HUMAN
resolver
uniprot_entry
S4A11_HUMAN
resolver
uniprot_sec
B4DKC8
resolver
uniprot_sec
B4DKX9
resolver
uniprot_sec
G3V1M3
resolver
uniprot_sec
Q2TB62
resolver
uniprot_sec
Q2TB63
resolver
uniprot_sec
Q9BXF4
resolver
uniprot_sec
Q9NTW9
resolver
amino_acid_sequence
MAAATRRVFHLQPCENSPTMSQNGYFEDSSYYKCDTDDTFEAREEILGDEAFDTANSSIVSGESIRFFVNVNLEMQATNTENEATSGGCVLLHTSRKYLKLKNFKEEIRAHRDLDGFLAQASIVLNETATSLDNVLRTMLRRFARDPDNNEPNCNLDLLMAMLFTDAGAPMRGKVHLLSDTIQGVTATVTGVRYQQSWLCIICTMKALQKRHVCISRLVRPQNWGENSCEVRFVILVLAPPKMKSTKTAMEVARTFATMFSDIAFRQKLLETRTEEEFKEALVHQRQLLTMVSHGPVAPRTKERSTVSLPAHRHPEPPKCKDFVPFGKGIREDIARRFPLYPLDFTDGIIGKNKAVGKYITTTLFLYFACLLPTIAFGSLNDENTDGAIDVQKTIAGQSIGGLLYALFSGQPLVILLTTAPLALYIQVIRVICDDYDLDFNSFYAWTGLWNSFFLALYAFFNLSLVMSLFKRSTEEIIALFISITFVLDAVKGTVKIFWKYYYGHYLDDYHTKRTSSLVSLSGLGASLNASLHTALNASFLASPTELPSATHSGQATAVLSLLIMLGTLWLGYTLYQFKKSPYLHPCVREILSDCALPIAVLAFSLISSHGFREIEMSKFRYNPSESPFAMAQIQSLSLRAVSGAMGLGFLLSMLFFIEQNLVAALVNAPENRLVKGTAYHWDLLLLAIINTGLSLFGLPWIHAAYPHSPLHVRALALVEERVENGHIYDTIVNVKETRLTSLGASVLVGLSLLLLPVPLQWIPKPVLYGLFLYIALTSLDGNQLVQRVALLLKEQTAYPPTHYIRRVPQRKIHYFTGLQVLQLLLLCAFGMSSLPYMKMIFPLIMIAMIPIRYILLPRIIEAKYLDVMDAEHRP
uniprot
proteins
disease_involvement
DISEASE: Corneal dystrophy and perceptive deafness (CDPD) [MIM:217400]: An ocular disease characterized by the association of corneal clouding with progressive perceptive hearing loss. {ECO:0000269|PubMed:17220209}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Corneal endothelial dystrophy (CHED) [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:0000269|PubMed:16767101, ECO:0000269|PubMed:16825429, ECO:0000269|PubMed:17220209, ECO:0000269|PubMed:17397048, ECO:0000269|PubMed:17679935, ECO:0000269|PubMed:18474783, ECO:0000269|PubMed:19369245, ECO:0000269|PubMed:20108384, ECO:0000269|PubMed:20185830, ECO:0000269|PubMed:21203343, ECO:0000269|PubMed:21288032, ECO:0000269|PubMed:22072594, ECO:0000269|PubMed:23813972, ECO:0000269|PubMed:26286922, ECO:0000269|PubMed:27581649}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: 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:0000269|PubMed:18024964, ECO:0000269|PubMed:20848555, ECO:0000269|PubMed:22072594, ECO:0000269|PubMed:25007886}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: 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 (PubMed: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 (PubMed:15525507, PubMed:28642546). Regulates the oxidative stress response in corneal endothelium by enhancing antioxidant defenses and protecting cells from reactive oxygen species (PubMed: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 (PubMed:23813972, PubMed:25007886, PubMed: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 (PubMed:27581649). {ECO:0000250|UniProtKB:A2AJN7, ECO:0000269|PubMed:15525507, ECO:0000269|PubMed:23813972, ECO:0000269|PubMed:25007886, ECO:0000269|PubMed:27581649, ECO:0000269|PubMed:28642546, ECO:0000269|PubMed:31273259}.
uniprot
proteins
mass_dalton
98181
uniprot
proteins
mutagenesis
MUTAGEN 623; /note="N->A: Decreases the water flux across the plasma membrane."; /evidence="ECO:0000269|PubMed:23813972
uniprot
proteins
post_translational_modification
PTM: Glycosylated. {ECO:0000269|PubMed:18024964}.
uniprot
proteins
protein_family
Anion exchanger (TC 2.A.31) family
uniprot
proteins
pubmed
11302728
uniprot
proteins
pubmed
11780052
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15525507
uniprot
proteins
pubmed
16767101
uniprot
proteins
pubmed
16825429
uniprot
proteins
pubmed
17220209
uniprot
proteins
pubmed
17397048
uniprot
proteins
pubmed
17679935
uniprot
proteins
pubmed
18024964
uniprot
proteins
pubmed
18474783
uniprot
proteins
pubmed
19369245
uniprot
proteins
pubmed
20108384
uniprot
proteins
pubmed
20185830
uniprot
proteins
pubmed
20848555
uniprot
proteins
pubmed
21203343
uniprot
proteins
pubmed
21288032
uniprot
proteins
pubmed
22072594
uniprot
proteins
pubmed
23813972
uniprot
proteins
pubmed
25007886
uniprot
proteins
pubmed
26286922
uniprot
proteins
pubmed
27581649
uniprot
proteins
pubmed
28642546
uniprot
proteins
pubmed
31273259
uniprot
proteins
sequence_length
875
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:18024964, ECO:0000269|PubMed:25007886, ECO:0000269|PubMed:31273259}; Multi-pass membrane protein {ECO:0000255}. Basolateral cell membrane {ECO:0000269|PubMed:23813972}; Multi-pass membrane protein {ECO:0000255}.
uniprot
proteins
transmembrane_region
TRANSMEM 359..381; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 395..408; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 414..430; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 444..467; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 476..496; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 556..577; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 591..612; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 641..658; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 684..704; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 735..759; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 766..783; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 788..810; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 816..832; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 837..857; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins