SLC4A3
entrez
6508
canonical
uniprot
P48751
canonical
ensembl
ENSG00000114923
resolver
ensp
ENSP00000273063
resolver
ensp
ENSP00000314006
resolver
ensp
ENSP00000350756
resolver
ensp
ENSP00000532589
resolver
genesymbol
SLC4A3
resolver
genesymbol_syn
AE3
resolver
hgnc
HGNC:11029
resolver
uniprot
A6H8L2
resolver
uniprot
A8K1Q9
resolver
uniprot
B7ZVX6
resolver
uniprot
B9EGD1
resolver
uniprot
Q6YIQ9
resolver
uniprot_entry
B3A3_HUMAN
resolver
uniprot_sec
A6H8L2
resolver
uniprot_sec
A8K1Q9
resolver
uniprot_sec
B7ZVX6
resolver
uniprot_sec
B9EGD1
resolver
uniprot_sec
Q6YIQ9
resolver
amino_acid_sequence
MANGVIPPPGGASPLPQVRVPLEEPPLSPDVEEEDDDLGKTLAVSRFGDLISKPPAWDPEKPSRSYSERDFEFHRHTSHHTHHPLSARLPPPHKLRRLPPTSARHTRRKRKKEKTSAPPSEGTPPIQEEGGAGVDEEEEEEEEEEGESEAEPVEPPHSGTPQKAKFSIGSDEDDSPGLPGRAAVTKPLPSVGPHTDKSPQHSSSSPSPRARASRLAGEKSRPWSPSASYDLRERLCPGSALGNPGGPEQQVPTDEAEAQMLGSADLDDMKSHRLEDNPGVRRHLVKKPSRTQGGRGSPSGLAPILRRKKKKKKLDRRPHEVFVELNELMLDRSQEPHWRETARWIKFEEDVEEETERWGKPHVASLSFRSLLELRRTIAHGAALLDLEQTTLPGIAHLVVETMIVSDQIRPEDRASVLRTLLLKHSHPNDDKDSGFFPRNPSSSSMNSVLGNHHPTPSHGPDGAVPTMADDLGEPAPLWPHDPDAKEKPLHMPGGDGHRGKSLKLLEKIPEDAEATVVLVGCVPFLEQPAAAFVRLNEAVLLESVLEVPVPVRFLFVMLGPSHTSTDYHELGRSIATLMSDKLFHEAAYQADDRQDLLSAISEFLDGSIVIPPSEVEGRDLLRSVAAFQRELLRKRREREQTKVEMTTRGGYTAPGKELSLELGGSEATPEDDPLLRTGSVFGGLVRDVRRRYPHYPSDLRDALHSQCVAAVLFIYFAALSPAITFGGLLGEKTEGLMGVSELIVSTAVLGVLFSLLGAQPLLVVGFSGPLLVFEEAFFKFCRAQDLEYLTGRVWVGLWLVVFVLALVAAEGSFLVRYISPFTQEIFAFLISLIFIYETFYKLYKVFTEHPLLPFYPPEGALEGSLDAGLEPNGSALPPTEGPPSPRNQPNTALLSLILMLGTFFIAFFLRKFRNSRFLGGKARRIIGDFGIPISILVMVLVDYSITDTYTQKLTVPTGLSVTSPDKRSWFIPPLGSARPFPPWMMVAAAVPALLVLILIFMETQITALIVSQKARRLLKGSGFHLDLLLIGSLGGLCGLFGLPWLTAATVRSVTHVNALTVMRTAIAPGDKPQIQEVREQRVTGVLIASLVGLSIVMGAVLRRIPLAVLFGIFLYMGVTSLSGIQLSQRLLLILMPAKHHPEQPYVTKVKTWRMHLFTCIQLGCIALLWVVKSTAASLAFPFLLLLTVPLRHCLLPRLFQDRELQALDSEDAEPNFDEDGQDEYNELHMPV
uniprot
proteins
disease_involvement
DISEASE: Short QT syndrome 7 (SQT7) [MIM:620231]: An autosomal dominant form of short QT syndrome, a heart disorder characterized by idiopathic persistently and uniformly short QT interval on ECG in the absence of structural heart disease in affected individuals. It can cause syncope and sudden death. {ECO:0000269|PubMed:29167417, ECO:0000269|PubMed:36806574}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Sodium-independent anion exchanger which mediates the electroneutral exchange of chloride for bicarbonate ions across the cell membrane (PubMed:29167417, PubMed:7923606). May be involved in the regulation of intracellular pH, and the modulation of cardiac action potential (PubMed:29167417). {ECO:0000269|PubMed:29167417, ECO:0000269|PubMed:7923606}.
uniprot
proteins
mass_dalton
135791
uniprot
proteins
protein_family
Anion exchanger (TC 2.A.31) family
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15815621
uniprot
proteins
pubmed
29167417
uniprot
proteins
pubmed
36806574
uniprot
proteins
pubmed
7923606
uniprot
proteins
sequence_length
1232
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:29167417}; Multi-pass membrane protein {ECO:0000255}.; SUBCELLULAR LOCATION: [Isoform CAE3]: Cell membrane {ECO:0000305|PubMed:7923606}; Multi-pass membrane protein {ECO:0000255}.
uniprot
proteins
transmembrane_region
TRANSMEM 709..731; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 737..774; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 794..816; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 826..847; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 893..910; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 926..946; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 980..1002; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 1028..1049; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 1083..1128; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 1155..1191; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins