SLC4A10
entrez
57282
canonical
uniprot
Q6U841
canonical
ensembl
ENSG00000144290
resolver
ensp
ENSP00000272716
resolver
ensp
ENSP00000364664
resolver
ensp
ENSP00000393066
resolver
ensp
ENSP00000395797
resolver
ensp
ENSP00000404486
resolver
ensp
ENSP00000617454
resolver
enst
ENST00000272716
resolver
genesymbol
SLC4A10
resolver
genesymbol_syn
NBCN2
resolver
genesymbol_syn
NCBE
resolver
hgnc
HGNC:13811
resolver
uniprot
B7Z1R0
resolver
uniprot
B7Z2J0
resolver
uniprot
B7ZLC5
resolver
uniprot
B9EG69
resolver
uniprot
C9J240
resolver
uniprot
F8W675
resolver
uniprot
Q4ZFX6
resolver
uniprot
Q8TCP2
resolver
uniprot
Q9HCQ6
resolver
uniprot_entry
C9J240_HUMAN
resolver
uniprot_entry
S4A10_HUMAN
resolver
uniprot_sec
B7Z1R0
resolver
uniprot_sec
B7Z2J0
resolver
uniprot_sec
B7ZLC5
resolver
uniprot_sec
B9EG69
resolver
uniprot_sec
F8W675
resolver
uniprot_sec
Q4ZFX6
resolver
uniprot_sec
Q8TCP2
resolver
uniprot_sec
Q9HCQ6
resolver
amino_acid_sequence
MEIKDQGAQMEPLLPTRNDEEAVVDRGGTRSILKTHFEKEDLEGHRTLFIGVHVPLGGRKSHRRHRHRGHKHRKRDRERDSGLEDGRESPSFDTPSQRVQFILGTEDDDEEHIPHDLFTELDEICWREGEDAEWRETARWLKFEEDVEDGGERWSKPYVATLSLHSLFELRSCILNGTVLLDMHANTLEEIADMVLDQQVSSGQLNEDVRHRVHEALMKQHHHQNQKKLTNRIPIVRSFADIGKKQSEPNSMDKNAGQVVSPQSAPACVENKNDVSRENSTVDFSKGLGGQQKGHTSPCGMKQRHEKGPPHQQEREVDLHFMKKIPPGAEASNILVGELEFLDRTVVAFVRLSPAVLLQGLAEVPIPTRFLFILLGPLGKGQQYHEIGRSIATLMTDEVFHDVAYKAKDRNDLVSGIDEFLDQVTVLPPGEWDPSIRIEPPKNVPSQEKRKIPAVPNGTAAHGEAEPHGGHSGPELQRTGRIFGGLILDIKRKAPYFWSDFRDAFSLQCLASFLFLYCACMSPVITFGGLLGEATEGRISAIESLFGASMTGIAYSLFGGQPLTILGSTGPVLVFEKILFKFCKEYGLSYLSLRASIGLWTATLCIILVATDASSLVCYITRFTEEAFASLICIIFIYEALEKLFELSEAYPINMHNDLELLTQYSCNCVEPHNPSNGTLKEWRESNISASDIIWENLTVSECKSLHGEYVGRACGHDHPYVPDVLFWSVILFFSTVTLSATLKQFKTSRYFPTKVRSIVSDFAVFLTILCMVLIDYAIGIPSPKLQVPSVFKPTRDDRGWFVTPLGPNPWWTVIAAIIPALLCTILIFMDQQITAVIINRKEHKLKKGCGYHLDLLMVAVMLGVCSIMGLPWFVAATVLSITHVNSLKLESECSAPGEQPKFLGIREQRVTGLMIFILMGSSVFMTSILKFIPMPVLYGVFLYMGASSLKGIQFFDRIKLFWMPAKHQPDFIYLRHVPLRKVHLFTIIQMSCLGLLWIIKVSRAAIVFPMMVLALVFVRKLMDLLFTKRELSWLDDLMPESKKKKLEDAEKEEEQSMLAMEDEGTVQLPLEGHYRDDPSVINISDEMSKTALWRNLLITADNSKDKESSFPSKSSPS
uniprot
proteins
disease_involvement
DISEASE: Neurodevelopmental disorder with hypotonia and characteristic brain abnormalities (NEDHBA) [MIM:620746]: An autosomal recessive disorder characterized by hypotonia in infancy, delayed psychomotor development and intellectual impairment. Affected individuals commonly display traits associated with autistic spectrum disorder including anxiety, hyperactivity and stereotyped movements. Episodes of seizures in the first few years of life may occur. Brain imaging shows abnormalities of the lateral ventricles. {ECO:0000269|PubMed:37459438, ECO:0000269|PubMed:38054405}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Sodium/bicarbonate cotransporter which plays an important role in regulating intracellular pH (PubMed:18319254). Has been shown to act as a sodium/bicarbonate cotransporter in exchange for intracellular chloride (By similarity). Has also been shown to act as a sodium/biocarbonate cotransporter which does not couple net influx of bicarbonate to net efflux of chloride, with the observed chloride efflux being due to chloride self-exchange (PubMed:18319254). Controls neuronal pH and may contribute to the secretion of cerebrospinal fluid (By similarity). Acting on presynaptic intracellular pH, it promotes GABA release, reduces the excitability of CA1 pyramidal neurons, and modulates short-term synaptic plasticity (By similarity). Required in retinal cells to maintain normal pH which is necessary for normal vision (By similarity). In the kidney, likely to mediate bicarbonate reclamation in the apical membrane of the proximal tubules (By similarity). {ECO:0000250|UniProtKB:Q5DTL9, ECO:0000250|UniProtKB:Q80ZA5, ECO:0000269|PubMed:18319254}.
uniprot
proteins
mass_dalton
125946
uniprot
proteins
mutagenesis
MUTAGEN 677; /note="N->Q: Reduced glycosylation. Abolishes glycosylation; when associated with Q-687 and Q-697."; /evidence="ECO:0000269|PubMed:18061361"; MUTAGEN 687; /note="N->Q: Reduced glycosylation. Abolishes glycosylation; when associated with Q-677 and Q-697."; /evidence="ECO:0000269|PubMed:18061361"; MUTAGEN 697; /note="N->Q: Reduced glycosylation. Abolishes glycosylation; when associated with Q-677 and Q-687."; /evidence="ECO:0000269|PubMed:18061361
uniprot
proteins
protein_family
Anion exchanger (TC 2.A.31) family
uniprot
proteins
pubmed
10993873
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15815621
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
18061361
uniprot
proteins
pubmed
18319254
uniprot
proteins
pubmed
37459438
uniprot
proteins
pubmed
38054405
uniprot
proteins
sequence_length
1118
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Basolateral cell membrane {ECO:0000250|UniProtKB:Q5DTL9}; Multi-pass membrane protein {ECO:0000255}. Apical cell membrane {ECO:0000250|UniProtKB:Q80ZA5}; Multi-pass membrane protein {ECO:0000255}. Cell projection, dendrite {ECO:0000250|UniProtKB:Q5DTL9}. Cell projection, axon {ECO:0000250|UniProtKB:Q5DTL9}. Perikaryon {ECO:0000250|UniProtKB:Q5DTL9}. Presynapse {ECO:0000250|UniProtKB:Q5DTL9}. Postsynapse {ECO:0000250|UniProtKB:Q5DTL9}. Note=Detected in dendrites and axon terminals of retinal OFF bipolar cells and in axon terminals of ON bipolar cells (By similarity). In amacrine cells, located in the perikaryon (By similarity). Also detected in basal and apical dendrites of hippocampal pyramidal cells (By similarity). Localized to GABAergic inhibitory presynapses (By similarity). {ECO:0000250|UniProtKB:Q5DTL9}.
uniprot
proteins
transmembrane_region
TRANSMEM 510..530; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 539..559; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 563..583; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 597..617; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 627..647; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 721..741; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 763..783; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 810..830; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 856..876; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 913..933; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 936..956; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 999..1019; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins