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solute carrier family 4 member 11 (SLC4A11, sodium bicarbonate transporter-like protein 11, bicarbonate transporter-related protein 1, BTR1, Na+ borate cotransporter 1, NaBC1)
Function:
- transporter involved in borate homeostasis
- in the absence of borate, it functions as a Na+ & OH-/H+ channel
- in the presence of borate functions as an electrogenic Na+ coupled borate cotransporter
Structure:
- glycosylated
- belongs to the anion exchanger (TC 2.A.31) family
Compartment: cell membrane
Alternative splicing: named isoforms=2
Expression:
- widely expressed
- highly expressed in kidney, testis, salivary gland, thyroid, trachea & corneal endothelium
- not detected in retina & lymphocytes
Pathology:
- defects in SLC4A11 are the cause of
a) corneal dystrophy & perceptive deafness
b) corneal endothelial dystrophy type 2
General
glycoprotein
solute carrier family 4 (SLC4, SLC4A)
transmembrane 10 protein
Properties
SIZE: MW = 100 kD
entity length = 891 aa
COMPARTMENT: cellular membrane
MOTIF: cytoplasmic domain {1-375}
transmembrane domain {376-396}
exoplasmic loop {397-415}
transmembrane domain {416-436}
cytoplasmic loop {437-465}
transmembrane domain {466-486}
exoplasmic loop {487-571}
MOTIF: membrane region {493-513}
N-glycosylation site {N545}
N-glycosylation site {N553}
transmembrane domain {572-592}
cytoplasmic loop {593-653}
transmembrane domain {654-674}
exoplasmic loop {675-699}
transmembrane domain {700-720}
cytoplasmic loop {721-758}
transmembrane domain {759-779}
exoplasmic loop {780-781}
transmembrane domain {782-802}
cytoplasmic loop {803-830}
transmembrane domain {831-851}
exoplasmic loop {852-852}
transmembrane domain {853-873}
cytoplasmic domain {874-891}
Database Correlations
OMIM correlations
MORBIDMAP 610206
UniProt Q8NBS3
Pfam PF00955
Kegg hsa:8395
References
UniProt :accession Q8NBS3