SLC4A4
entrez
8671
canonical
uniprot
Q9Y6R1
canonical
ensembl
ENSG00000080493
resolver
ensp
ENSP00000264485
resolver
ensp
ENSP00000344272
resolver
ensp
ENSP00000393557
resolver
ensp
ENSP00000513771
resolver
ensp
ENSP00000565668
resolver
ensp
ENSP00000565669
resolver
ensp
ENSP00000632339
resolver
genesymbol
SLC4A4
resolver
genesymbol_syn
NBC
resolver
genesymbol_syn
NBC1
resolver
genesymbol_syn
NBCE1
resolver
hgnc
HGNC:11030
resolver
uniprot
A5JJ20
resolver
uniprot
C4B714
resolver
uniprot
O15153
resolver
uniprot
Q8NEJ2
resolver
uniprot
Q9H262
resolver
uniprot
Q9NRZ1
resolver
uniprot
Q9UIC0
resolver
uniprot
Q9UIC1
resolver
uniprot
Q9UP50
resolver
uniprot_entry
A5JJ20_HUMAN
resolver
uniprot_entry
S4A4_HUMAN
resolver
uniprot_sec
C4B714
resolver
uniprot_sec
O15153
resolver
uniprot_sec
Q8NEJ2
resolver
uniprot_sec
Q9H262
resolver
uniprot_sec
Q9NRZ1
resolver
uniprot_sec
Q9UIC0
resolver
uniprot_sec
Q9UIC1
resolver
uniprot_sec
Q9UP50
resolver
amino_acid_sequence
MEDEAVLDRGASFLKHVCDEEEVEGHHTIYIGVHVPKSYRRRRRHKRKTGHKEKKEKERISENYSDKSDIENADESSSSILKPLISPAAERIRFILGEEDDSPAPPQLFTELDELLAVDGQEMEWKETARWIKFEEKVEQGGERWSKPHVATLSLHSLFELRTCMEKGSIMLDREASSLPQLVEMIVDHQIETGLLKPELKDKVTYTLLRKHRHQTKKSNLRSLADIGKTVSSASRMFTNPDNGSPAMTHRNLTSSSLNDISDKPEKDQLKNKFMKKLPRDAEASNVLVGEVDFLDTPFIAFVRLQQAVMLGALTEVPVPTRFLFILLGPKGKAKSYHEIGRAIATLMSDEVFHDIAYKAKDRHDLIAGIDEFLDEVIVLPPGEWDPAIRIEPPKSLPSSDKRKNMYSGGENVQMNGDTPHDGGHGGGGHGDCEELQRTGRFCGGLIKDIKRKAPFFASDFYDALNIQALSAILFIYLATVTNAITFGGLLGDATDNMQGVLESFLGTAVSGAIFCLFAGQPLTILSSTGPVLVFERLLFNFSKDNNFDYLEFRLWIGLWSAFLCLILVATDASFLVQYFTRFTEEGFSSLISFIFIYDAFKKMIKLADYYPINSNFKVGYNTLFSCTCVPPDPANISISNDTTLAPEYLPTMSSTDMYHNTTFDWAFLSKKECSKYGGNLVGNNCNFVPDITLMSFILFLGTYTSSMALKKFKTSPYFPTTARKLISDFAIILSILIFCVIDALVGVDTPKLIVPSEFKPTSPNRGWFVPPFGENPWWVCLAAAIPALLVTILIFMDQQITAVIVNRKEHKLKKGAGYHLDLFWVAILMVICSLMALPWYVAATVISIAHIDSLKMETETSAPGEQPKFLGVREQRVTGTLVFILTGLSVFMAPILKFIPMPVLYGVFLYMGVASLNGVQFMDRLKLLLMPLKHQPDFIYLRHVPLRRVHLFTFLQVLCLALLWILKSTVAAIIFPVMILALVAVRKGMDYLFSQHDLSFLDDVIPEKDKKKKEDEKKKKKKKGSLDSDNDDSDCPYSEKVPSIKIPMDIMEQQPFLSDSKPSDRERSPTFLERHTSC
uniprot
proteins
disease_involvement
DISEASE: Proximal renal tubular acidosis-ocular anomaly syndrome (PRTAO) [MIM:604278]: An extremely rare autosomal recessive syndrome characterized by short stature, profound proximal renal tubular acidosis, intellectual disability, bilateral glaucoma, cataracts and bandkeratopathy. {ECO:0000269|PubMed:10545938, ECO:0000269|PubMed:15471865, ECO:0000269|PubMed:15713912, ECO:0000269|PubMed:15930088, ECO:0000269|PubMed:16636648, ECO:0000269|PubMed:17661077, ECO:0000269|PubMed:23636456}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Note=Loss of interaction with and stimulation by CA4 is the cause of retinitis pigmentosa type 17 (RP17).
uniprot
proteins
function
FUNCTION: Electrogenic sodium/bicarbonate cotransporter with a Na(+):HCO3(-) stoichiometry varying from 1:2 to 1:3. May regulate bicarbonate influx/efflux at the basolateral membrane of cells and regulate intracellular pH. {ECO:0000269|PubMed:10069984, ECO:0000269|PubMed:11744745, ECO:0000269|PubMed:12411514, ECO:0000269|PubMed:12730338, ECO:0000269|PubMed:12907161, ECO:0000269|PubMed:14567693, ECO:0000269|PubMed:15218065, ECO:0000269|PubMed:15713912, ECO:0000269|PubMed:15817634, ECO:0000269|PubMed:15930088, ECO:0000269|PubMed:16636648, ECO:0000269|PubMed:16769890, ECO:0000269|PubMed:17661077, ECO:0000269|PubMed:23324180, ECO:0000269|PubMed:23636456, ECO:0000269|PubMed:29500354, ECO:0000269|PubMed:9235899, ECO:0000269|PubMed:9651366}.
uniprot
proteins
mass_dalton
121461
uniprot
proteins
mutagenesis
MUTAGEN 49; /note="T->A: Loss of conductance regulation by cAMP; isoform 1."; /evidence="ECO:0000269|PubMed:12730338"; MUTAGEN 49; /note="T->D: Loss of conductance regulation by cAMP; isoform 1."; /evidence="ECO:0000269|PubMed:12730338"; MUTAGEN 135; /note="E->R: Mistargeting and altered function."; /evidence="ECO:0000269|PubMed:15713912"; MUTAGEN 477; /note="Y->F: Moderate reduction of the sodium-dependent ion transport activity."; /evidence="ECO:0000269|PubMed:15817634"; MUTAGEN 493; /note="D->N: Prevents membrane targeting."; /evidence="ECO:0000269|PubMed:15817634"; MUTAGEN 494; /note="A->K: Prevents membrane targeting."; /evidence="ECO:0000269|PubMed:15817634"; MUTAGEN 503; /note="E->Q: Strong reduction of the sodium-dependent ion transport activity."; /evidence="ECO:0000269|PubMed:15817634"; MUTAGEN 504; /note="S->L: Prevents membrane targeting."; /evidence="ECO:0000269|PubMed:15817634"; MUTAGEN 527..529; /note="SST->GFS: Confers anion exchange activity; when associated with E-798; S-842; T-844 and R-847."; /evidence="ECO:0000269|PubMed:29500354"; MUTAGEN 527; /note="S->C: Severely reduces transporter activity."; /evidence="ECO:0000269|PubMed:29500354"; MUTAGEN 536; /note="E->Q: Prevents membrane targeting."; /evidence="ECO:0000269|PubMed:15817634"; MUTAGEN 552; /note="E->N: Prevents membrane targeting."; /evidence="ECO:0000269|PubMed:15817634"; MUTAGEN 554; /note="R->D: Prevents membrane targeting."; /evidence="ECO:0000269|PubMed:15817634"; MUTAGEN 582; /note="R->N: Moderate reduction of the sodium-dependent ion transport activity."; /evidence="ECO:0000269|PubMed:15817634"; MUTAGEN 582; /note="R->Q: Strong reduction of the sodium-dependent ion transport activity."; /evidence="ECO:0000269|PubMed:15817634"; MUTAGEN 586; /note="E->Q: Moderate reduction of the sodium-dependent ion transport activity."; /evidence="ECO:0000269|PubMed:15817634"; MUTAGEN 599; /note="D->N: Moderate reduction of the sodium-dependent ion transport activity."; /evidence="ECO:0000269|PubMed:15817634"; MUTAGEN 600; /note="A->T: Strong reduction of the sodium-dependent ion transport activity."; /evidence="ECO:0000269|PubMed:15817634"; MUTAGEN 602; /note="K->Q: Moderate reduction of the sodium-dependent ion transport activity."; /evidence="ECO:0000269|PubMed:15817634"; MUTAGEN 603; /note="K->Q: Strong reduction of the sodium-dependent ion transport activity."; /evidence="ECO:0000269|PubMed:15817634"; MUTAGEN 691; /note="D->R: Strong reduction of the sodium-dependent ion transport activity."; /evidence="ECO:0000269|PubMed:15817634"; MUTAGEN 700; /note="F->M: Strong reduction of the sodium-dependent ion transport activity."; /evidence="ECO:0000269|PubMed:15817634"; MUTAGEN 711; /note="K->E,N,Q: Strong reduction of the sodium-dependent ion transport activity."; /evidence="ECO:0000269|PubMed:15817634"; MUTAGEN 711; /note="K->R: No effect on the sodium-dependent ion transport activity."; /evidence="ECO:0000269|PubMed:15817634"; MUTAGEN 712; /note="K->N: Strong reduction of the sodium-dependent ion transport activity."; /evidence="ECO:0000269|PubMed:15817634"; MUTAGEN 714; /note="K->Q: Moderate reduction of the sodium-dependent ion transport activity."; /evidence="ECO:0000269|PubMed:15817634"; MUTAGEN 715; /note="T->N: Strong reduction of the sodium-dependent ion transport activity."; /evidence="ECO:0000269|PubMed:15817634"; MUTAGEN 721; /note="T->G: Moderate reduction of the sodium-dependent ion transport activity."; /evidence="ECO:0000269|PubMed:15817634"; MUTAGEN 724; /note="R->E: Strong reduction of the sodium-dependent ion transport activity."; /evidence="ECO:0000269|PubMed:15817634"; MUTAGEN 725; /note="K->N: Strong reduction of the sodium-dependent ion transport activity."; /evidence="ECO:0000269|PubMed:15817634"; MUTAGEN 728; /note="S->G: Strong reduction of the sodium-dependent ion transport activity."; /evidence="ECO:0000269|PubMed:15817634"; MUTAGEN 729; /note="D->N,R: Strong reduction of the sodium-dependent ion transport activity."; /evidence="ECO:0000269|PubMed:15817634"; MUTAGEN 743; /note="D->K,N: Prevents membrane targeting."; /evidence="ECO:0000269|PubMed:15817634"; MUTAGEN 749; /note="D->N: Moderate reduction of the sodium-dependent ion transport activity."; /evidence="ECO:0000269|PubMed:15817634"; MUTAGEN 752; /note="K->Q: Prevents membrane targeting."; /evidence="ECO:0000269|PubMed:15817634"; MUTAGEN 766; /note="R->Q: Moderate reduction of the sodium-dependent ion transport activity."; /evidence="ECO:0000269|PubMed:15817634"; MUTAGEN 767; /note="G->T: Alters interaction with CA4."; /evidence="ECO:0000269|PubMed:14567693"; MUTAGEN 775; /note="E->N: Moderate reduction of the sodium-dependent ion transport activity."; /evidence="ECO:0000269|PubMed:15817634"; MUTAGEN 798; /note="D->C: Abolishes transporter activity."; /evidence="ECO:0000269|PubMed:29500354"; MUTAGEN 798; /note="D->E: Severely reduces transporter activity. Confers anion exchange activity; when associated with SST-527--529-GFS; S-842; T-844 and R-847."; /evidence="ECO:0000269|PubMed:29500354"; MUTAGEN 798; /note="D->N,R: Strong reduction of the sodium-dependent ion transport activity."; /evidence="ECO:0000269|PubMed:15817634"; MUTAGEN 802; /note="T->C: Abolishes transporter activity."; /evidence="ECO:0000269|PubMed:29500354"; MUTAGEN 808..809; /note="RK->NN: Strong reduction of the sodium-dependent ion transport activity."; /evidence="ECO:0000269|PubMed:15817634"; MUTAGEN 814..815; /note="KK->NN: Moderate reduction of the sodium-dependent ion transport activity."; /evidence="ECO:0000269|PubMed:15817634"; MUTAGEN 820; /note="H->D,N,S,R: Moderate reduction of the sodium-dependent ion transport activity."; /evidence="ECO:0000269|PubMed:15817634"; MUTAGEN 822; /note="D->N: Moderate reduction of the sodium-dependent ion transport activity."; /evidence="ECO:0000269|PubMed:15817634"; MUTAGEN 842; /note="V->S: Confers anion exchange activity; when associated with SST-527--529-GFS; D-798; T-844 and R-847."; /evidence="ECO:0000269|PubMed:29500354"; MUTAGEN 844; /note="A->T: Confers anion exchange activity; when associated with SST-527--529-GFS; D-798; S-842 and R-847."; /evidence="ECO:0000269|PubMed:29500354"; MUTAGEN 845; /note="T->C: Strongly reduces transporter activity."; /evidence="ECO:0000269|PubMed:29500354"; MUTAGEN 847; /note="I->R: Abolishes transporter activity. Confers anion exchange activity; when associated with SST-527--529-GFS; D-798; S-842 and T-844."; /evidence="ECO:0000269|PubMed:29500354"; MUTAGEN 851; /note="H->N: Prevents membrane targeting."; /evidence="ECO:0000269|PubMed:15817634"; MUTAGEN 853; /note="D->N: Moderate reduction of the sodium-dependent ion transport activity."; /evidence="ECO:0000269|PubMed:15817634"; MUTAGEN 858..860; /note="ETE->MSK: Moderate reduction of the sodium-dependent ion transport activity."; /evidence="ECO:0000269|PubMed:15817634"; MUTAGEN 875..877; /note="EQR->QQQ: Prevents membrane targeting."; /evidence="ECO:0000269|PubMed:15817634"; MUTAGEN 875; /note="E->Q: Strong reduction of the sodium-dependent ion transport activity."; MUTAGEN 898; /note="K->E: Strong reduction of the sodium-dependent ion transport activity."; /evidence="ECO:0000269|PubMed:15817634"; MUTAGEN 925..927; /note="RLK->NLN: Prevents membrane targeting."; /evidence="ECO:0000269|PubMed:15817634"; MUTAGEN 948; /note="R->E: Strong reduction of the sodium-dependent ion transport activity."; /evidence="ECO:0000269|PubMed:15817634"; MUTAGEN 949; /note="R->E: Moderate reduction of the sodium-dependent ion transport activity."; /evidence="ECO:0000269|PubMed:15817634"; MUTAGEN 951; /note="H->D: Moderate reduction of the sodium-dependent ion transport activity."; /evidence="ECO:0000269|PubMed:15817634"; MUTAGEN 951; /note="H->N,R: Prevents membrane targeting."; /evidence="ECO:0000269|PubMed:15817634"; MUTAGEN 968; /note="K->Q: Moderate reduction of the sodium-dependent ion transport activity."; /evidence="ECO:0000269|PubMed:15817634"; MUTAGEN 987; /note="R->E,N: Moderate reduction of the sodium-dependent ion transport activity."; /evidence="ECO:0000269|PubMed:15817634"; MUTAGEN 1002; /note="L->N: Partial loss of interaction with CA2."; /evidence="ECO:0000269|PubMed:15218065"; MUTAGEN 1003; /note="D->N: Abolishes interaction with CA2."; /evidence="ECO:0000269|PubMed:15218065"; MUTAGEN 1004; /note="D->N: Partial loss of interaction with CA2."; /evidence="ECO:0000269|PubMed:15218065"; MUTAGEN 1026; /note="S->A: Prevents phosphorylation by PKA. Loss of regulation by cAMP of the transporter stoichiometry."; /evidence="ECO:0000269|PubMed:11744745, ECO:0000269|PubMed:12730338"; MUTAGEN 1026; /note="S->D: Loss of regulation by cAMP of the transporter stoichiometry. Shifts transporter stoichiometry from 3:1 to 2:1."; /evidence="ECO:0000269|PubMed:11744745, ECO:0000269|PubMed:12730338"; MUTAGEN 1030..1033; /note="DNDD->NNNN: Abolishes interaction with CA2."; /evidence="ECO:0000269|PubMed:15218065"; MUTAGEN 1030; /note="D->N: Loss of regulation by cAMP of the transporter stoichiometry. Abolishes interaction with CA2."; /evidence="ECO:0000269|PubMed:12411514"; MUTAGEN 1032; /note="D->N: Loss of regulation by cAMP of the transporter stoichiometry. Partial loss of interaction with CA2."; /evidence="ECO:0000269|PubMed:12411514"; MUTAGEN 1033; /note="D->N: No effect on regulation by cAMP of the transporter stoichiometry. Partial loss of interaction with CA2."; /evidence="ECO:0000269|PubMed:12411514"; MUTAGEN 1057; /note="F->A: Targeting to apical membrane."; /evidence="ECO:0000269|PubMed:15273250
uniprot
proteins
post_translational_modification
PTM: Phosphorylation of Ser-1026 by PKA increases the binding of CA2 and changes the Na(+):HCO3(-) stoichiometry of the transporter from 3:1 to 2:1 (PubMed:11744745, PubMed:12411514, PubMed:12730338). Phosphorylated in presence of STK39 and dephosphorylated in presence of PP1 phosphatase; phosphorylation seems to inhibit SLC4A4 activity (By similarity). {ECO:0000250|UniProtKB:O88343, ECO:0000269|PubMed:11744745, ECO:0000269|PubMed:12411514, ECO:0000269|PubMed:12730338}.; PTM: N-glycosylated. May not be necessary for the transporter basic functions. {ECO:0000269|PubMed:12604466}.
uniprot
proteins
protein_family
Anion exchanger (TC 2.A.31) family
uniprot
proteins
pubmed
10069984
uniprot
proteins
pubmed
10545938
uniprot
proteins
pubmed
11743927
uniprot
proteins
pubmed
11744745
uniprot
proteins
pubmed
12411514
uniprot
proteins
pubmed
12534288
uniprot
proteins
pubmed
12604466
uniprot
proteins
pubmed
12730338
uniprot
proteins
pubmed
12907161
uniprot
proteins
pubmed
14559244
uniprot
proteins
pubmed
14567693
uniprot
proteins
pubmed
15218065
uniprot
proteins
pubmed
15273250
uniprot
proteins
pubmed
15329059
uniprot
proteins
pubmed
15471865
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15563508
uniprot
proteins
pubmed
15713912
uniprot
proteins
pubmed
15815621
uniprot
proteins
pubmed
15817634
uniprot
proteins
pubmed
15930088
uniprot
proteins
pubmed
16636648
uniprot
proteins
pubmed
16769890
uniprot
proteins
pubmed
17661077
uniprot
proteins
pubmed
23324180
uniprot
proteins
pubmed
23636456
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
25568315
uniprot
proteins
pubmed
29500354
uniprot
proteins
pubmed
9235899
uniprot
proteins
pubmed
9651366
uniprot
proteins
sequence_length
1079
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Basolateral cell membrane {ECO:0000269|PubMed:12907161, ECO:0000269|PubMed:15273250, ECO:0000269|PubMed:15713912, ECO:0000269|PubMed:17661077}; Multi-pass membrane protein {ECO:0000269|PubMed:12534288, ECO:0000305|PubMed:29500354}. Cell membrane {ECO:0000269|PubMed:12534288, ECO:0000269|PubMed:15817634, ECO:0000269|PubMed:15930088, ECO:0000269|PubMed:16636648, ECO:0000269|PubMed:23324180, ECO:0000269|PubMed:23636456, ECO:0000269|PubMed:29500354}; Multi-pass membrane protein {ECO:0000269|PubMed:12534288, ECO:0000305|PubMed:29500354}.
uniprot
proteins
transmembrane_region
TRANSMEM 467..491; /note="Helical; Name=1"; /evidence="ECO:0000305|PubMed:12534288, ECO:0000305|PubMed:29500354"; TRANSMEM 502..520; /note="Helical; Name=2"; /evidence="ECO:0000305|PubMed:12534288, ECO:0000305|PubMed:29500354"; TRANSMEM 522..542; /note="Discontinuously helical; Name=3"; /evidence="ECO:0000305|PubMed:29500354"; TRANSMEM 551..571; /note="Helical; Name=4"; /evidence="ECO:0000305|PubMed:12534288, ECO:0000305|PubMed:29500354"; TRANSMEM 586..609; /note="Helical; Name=5"; /evidence="ECO:0000305|PubMed:29500354"; TRANSMEM 693..710; /note="Helical; Name=6"; /evidence="ECO:0000305|PubMed:12534288, ECO:0000305|PubMed:29500354"; TRANSMEM 726..745; /note="Helical; Name=7"; /evidence="ECO:0000305|PubMed:12534288, ECO:0000305|PubMed:29500354"; TRANSMEM 780..807; /note="Helical; Name=8"; /evidence="ECO:0000305|PubMed:12534288, ECO:0000305|PubMed:29500354"; TRANSMEM 820..836; /note="Helical; Name=9"; /evidence="ECO:0000305|PubMed:12534288, ECO:0000305|PubMed:29500354"; TRANSMEM 838..855; /note="Discontinuously helical; Name=10"; /evidence="ECO:0000305|PubMed:29500354"; TRANSMEM 878..894; /note="Helical; Name=11"; /evidence="ECO:0000305|PubMed:12534288, ECO:0000305|PubMed:29500354"; TRANSMEM 902..918; /note="Helical; Name=12"; /evidence="ECO:0000305|PubMed:29500354
uniprot
proteins