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Protein

Band 3 anion transport protein

Gene

SLC4A1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Functions both as a transporter that mediates electroneutral anion exchange across the cell membrane and as a structural protein. Major integral membrane glycoprotein of the erythrocyte membrane; required for normal flexibility and stability of the erythrocyte membrane and for normal erythrocyte shape via the interactions of its cytoplasmic domain with cytoskeletal proteins, glycolytic enzymes, and hemoglobin. Functions as a transporter that mediates the 1:1 exchange of inorganic anions across the erythrocyte membrane. Mediates chloride-bicarbonate exchange in the kidney, and is required for normal acidification of the urine.5 Publications

Activity regulationi

Phenyl isothiocyanate inhibits anion transport in vitro.

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sitei590Important for anion transport1
Sitei681Important for anion-proton cotransport1

GO - Molecular functioni

GO - Biological processi

Keywordsi

Molecular functionBlood group antigen
Biological processAnion exchange, Ion transport, Transport

Enzyme and pathway databases

ReactomeiR-HSA-1237044 Erythrocytes take up carbon dioxide and release oxygen
R-HSA-1247673 Erythrocytes take up oxygen and release carbon dioxide
R-HSA-425381 Bicarbonate transporters
R-HSA-5619050 Defective SLC4A1 causes hereditary spherocytosis type 4 (HSP4), distal renal tubular acidosis (dRTA) and dRTA with hemolytic anemia (dRTA-HA)
SIGNORiP02730

Protein family/group databases

MoonDBiP02730 Curated
MoonProtiP02730
TCDBi2.A.31.1.1 the anion exchanger (ae) family

Names & Taxonomyi

Protein namesi
Recommended name:
Band 3 anion transport protein
Alternative name(s):
Anion exchange protein 1
Short name:
AE 1
Short name:
Anion exchanger 1
Solute carrier family 4 member 1
CD_antigen: CD233
Gene namesi
Name:SLC4A1
Synonyms:AE1, DI, EPB3
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 17

Organism-specific databases

EuPathDBiHostDB:ENSG00000004939.13
HGNCiHGNC:11027 SLC4A1
MIMi109270 gene+phenotype
neXtProtiNX_P02730

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini1 – 403Cytoplasmic1 PublicationAdd BLAST403
Transmembranei404 – 427Helical; Name=11 PublicationAdd BLAST24
Topological domaini428 – 435Extracellular1 Publication8
Transmembranei436 – 456Helical; Name=21 PublicationAdd BLAST21
Topological domaini457 – 459Cytoplasmic1 Publication3
Transmembranei460 – 476Discontinuously helical; Name=31 PublicationAdd BLAST17
Topological domaini477 – 485Extracellular1 Publication9
Transmembranei486 – 506Helical; Name=41 PublicationAdd BLAST21
Topological domaini507 – 518Cytoplasmic1 PublicationAdd BLAST12
Transmembranei519 – 541Helical; Name=51 PublicationAdd BLAST23
Topological domaini542 – 570Extracellular1 PublicationAdd BLAST29
Transmembranei571 – 591Helical; Name=61 PublicationAdd BLAST21
Topological domaini592 – 602Cytoplasmic1 PublicationAdd BLAST11
Transmembranei603 – 623Helical; Name=71 PublicationAdd BLAST21
Topological domaini624 – 663Extracellular1 PublicationAdd BLAST40
Transmembranei664 – 684Helical; Name=81 PublicationAdd BLAST21
Topological domaini685 – 700Cytoplasmic1 PublicationAdd BLAST16
Transmembranei701 – 719Helical; Name=91 PublicationAdd BLAST19
Transmembranei720 – 737Discontinuously helical; Name=101 PublicationAdd BLAST18
Topological domaini738 – 760Cytoplasmic1 PublicationAdd BLAST23
Transmembranei761 – 781Helical; Name=111 PublicationAdd BLAST21
Transmembranei782 – 800Helical; Name=121 PublicationAdd BLAST19
Topological domaini801 – 838Cytoplasmic1 PublicationAdd BLAST38
Intramembranei839 – 869Discontinuously helical1 PublicationAdd BLAST31
Topological domaini870 – 911Cytoplasmic1 PublicationAdd BLAST42

Keywords - Cellular componenti

Cell membrane, Membrane

Pathology & Biotechi

Involvement in diseasei

Ovalocytosis, Southeast Asian (SAO)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA hereditary hematologic disorder characterized by ovalocytic erythrocytes that are rigid and exhibit reduced expression of many erythrocyte antigens. Clinical manifestations include mild hemolysis, intermittent jaundice and gallstones. However, the disorder is most often asymptomatic.
See also OMIM:166900
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_000801400 – 408Missing in SAO; increased rigidity of the erythrocyte membrane leading to increased resistance to shear stress and increased resistance to P.falciparum. 2 Publications9
Spherocytosis 4 (SPH4)15 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionSpherocytosis is a hematologic disorder leading to chronic hemolytic anemia and characterized by numerous abnormally shaped erythrocytes which are generally spheroidal.
See also OMIM:612653
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_01378490E → K in SPH4; Cape Town. 1 PublicationCorresponds to variant dbSNP:rs28929480EnsemblClinVar.1
Natural variantiVAR_013785130G → R in SPH4; Fukoka. 1 PublicationCorresponds to variant dbSNP:rs121912749EnsemblClinVar.1
Natural variantiVAR_013786147P → S in SPH4; Mondego. 1 Publication1
Natural variantiVAR_013787285A → D in SPH4; Boston. 1 Publication1
Natural variantiVAR_000800327P → R in SPH4; Tuscaloosa. 1 PublicationCorresponds to variant dbSNP:rs28931583EnsemblClinVar.1
Natural variantiVAR_013789455G → E in SPH4; Benesov. 1 Publication1
Natural variantiVAR_058038455G → R in SPH4; Yamagata. 1 Publication1
Natural variantiVAR_013791488V → M in SPH4; Coimbra; also in AR-dRTA. 2 PublicationsCorresponds to variant dbSNP:rs28931584EnsemblClinVar.1
Natural variantiVAR_013792490R → C in SPH4; Bicetre I. 1 PublicationCorresponds to variant dbSNP:rs1398477044Ensembl.1
Natural variantiVAR_058039490R → H in SPH4; Pinhal. 1 Publication1
Natural variantiVAR_000802518R → C in SPH4; Dresden. 1 PublicationCorresponds to variant dbSNP:rs868742796Ensembl.1
Natural variantiVAR_058042663M → K in SPH4; Tambau. 1 Publication1
Natural variantiVAR_000807663Missing in SPH4; Osnabruck II. 1 Publication1
Natural variantiVAR_039294705D → Y in SPH4; Horam; induces abnormal cations sodium and potassium fluxes; decreases anion chloride transport. 1 Publication1
Natural variantiVAR_013804707L → P in SPH4; Most. 2 Publications1
Natural variantiVAR_013805714G → R in SPH4; Okinawa. 1 Publication1
Natural variantiVAR_013806760R → Q in SPH4; Prague II; induces abnormal cations sodium and potassium fluxes; decreases anion chloride transport. 4 PublicationsCorresponds to variant dbSNP:rs121912755EnsemblClinVar.1
Natural variantiVAR_013807760R → W in SPH4; Hradec Kralove. 3 PublicationsCorresponds to variant dbSNP:rs373916826Ensembl.1
Natural variantiVAR_013808771G → D in SPH4; Chur. 1 PublicationCorresponds to variant dbSNP:rs121912741EnsemblClinVar.1
Natural variantiVAR_013809783I → N in SPH4; Napoli II. 1 Publication1
Natural variantiVAR_013810808R → C in SPH4; Jablonec. 2 PublicationsCorresponds to variant dbSNP:rs1167814744Ensembl.1
Natural variantiVAR_013811808R → H in SPH4; Nara. 1 PublicationCorresponds to variant dbSNP:rs866727908EnsemblClinVar.1
Natural variantiVAR_013812834H → P in SPH4; Birmingham. 2 Publications1
Natural variantiVAR_013813837T → A in SPH4; Tokyo. 1 PublicationCorresponds to variant dbSNP:rs121912750EnsemblClinVar.1
Natural variantiVAR_013814837T → M in SPH4; Philadelphia. 4 Publications1
Natural variantiVAR_058043837T → R in SPH4; Nagoya. 1 Publication1
Natural variantiVAR_013816870R → W in SPH4; Prague III. 3 PublicationsCorresponds to variant dbSNP:rs28931585EnsemblClinVar.1
Renal tubular acidosis, distal, autosomal dominant (AD-dRTA)
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal dominant disease characterized by reduced ability to acidify urine, variable hyperchloremic hypokalemic metabolic acidosis, nephrocalcinosis, and nephrolithiasis. It is due to functional failure of alpha-intercalated cells of the cortical collecting duct of the distal nephron, where vectorial proton transport is required for urinary acidification.
See also OMIM:179800
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_015104589R → C in AD-dRTA; reduced red cell sulfate transport and altered glycosylation of the red cell band 3 N-glycan chain. 1 PublicationCorresponds to variant dbSNP:rs121912745EnsemblClinVar.1
Natural variantiVAR_015105589R → H in AD-dRTA. 2 PublicationsCorresponds to variant dbSNP:rs121912744EnsemblClinVar.1
Natural variantiVAR_015106589R → S in AD-dRTA. 1 PublicationCorresponds to variant dbSNP:rs121912745EnsemblClinVar.1
Natural variantiVAR_058041609G → R in AD-dRTA; detected subapically and at the apical membrane as well as at the basolateral membrane in contrast to the normal basolateral appearance of wild-type protein. 1 PublicationCorresponds to variant dbSNP:rs878853002EnsemblClinVar.1
Natural variantiVAR_015107613S → F in AD-dRTA; markedly increased red cell sulfate transport but almost normal red cell iodide transport. 1 PublicationCorresponds to variant dbSNP:rs121912746EnsemblClinVar.1
Natural variantiVAR_015108858A → D in AD-dRTA; impairs expression at the cell membrane. 2 PublicationsCorresponds to variant dbSNP:rs121912751EnsemblClinVar.1
Renal tubular acidosis, distal, with hemolytic anemia (dRTA-HA)3 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disease characterized by the association of hemolytic anemia with distal renal tubular acidosis, the reduced ability to acidify urine resulting in variable hyperchloremic hypokalemic metabolic acidosis, nephrocalcinosis, and nephrolithiasis.
See also OMIM:611590
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_039292602R → P in dRTA-HA. 1 PublicationCorresponds to variant dbSNP:rs121912754EnsemblClinVar.1
Natural variantiVAR_015171701G → D in dRTA-HA; impairs expression at the cell membrane. 3 PublicationsCorresponds to variant dbSNP:rs121912748EnsemblClinVar.1
Natural variantiVAR_015109850Missing in dRTA-HA. 1 Publication1
Renal tubular acidosis, distal, with normal red cell morphology (dRTA-NRC)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disease characterized by reduced ability to acidify urine, variable hyperchloremic hypokalemic metabolic acidosis, nephrocalcinosis, and nephrolithiasis. It is due to functional failure of alpha-intercalated cells of the cortical collecting duct of the distal nephron, where vectorial proton transport is required for urinary acidification.
See also OMIM:611590
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_039297773S → P in dRTA-NRC. 1 PublicationCorresponds to variant dbSNP:rs121912753EnsemblClinVar.1
Cryohydrocytosis (CHC)1 Publication
The disease is caused by mutations affecting distinct genetic loci, including the gene represented in this entry.
Disease descriptionAn autosomal dominant disorder of red cell membrane permeability characterized by cold-induced changes in cell volume, resulting in cold-sensitive stomatocytosis, and increased erythrocyte osmotic fragility and autohemolysis at 4 degrees Celsius. Patients present with mild to moderate hemolytic anemia, splenomegaly, fatigue, and pseudohyperkalemia due to a potassium leak from the erythrocytes.
See also OMIM:185020
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_039293687L → P in CHC; Blackburn; induces abnormal cations sodium and potassium fluxes; decreases anion chloride transport. 1 PublicationCorresponds to variant dbSNP:rs863225463EnsemblClinVar.1
Natural variantiVAR_039295731S → P in CHC; Hemel; induces abnormal cations sodium and potassium fluxes; decreases anion chloride transport. 1 PublicationCorresponds to variant dbSNP:rs863225461EnsemblClinVar.1
Natural variantiVAR_039296734H → R in CHC; Hurstpierpont; induces abnormal cations sodium and potassium fluxes; decreases anion chloride transport. 1 PublicationCorresponds to variant dbSNP:rs863225462EnsemblClinVar.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi85E → A or R: Impairs expression at the cell membrane. 1 Publication1
Mutagenesisi283R → A, E or S: Impairs expression at the cell membrane. 1 Publication1
Mutagenesisi642N → D: Loss of N-glycosylation site. 1 Publication1
Mutagenesisi681E → Q: Impairs expression at the cell membrane. 1 Publication1

Keywords - Diseasei

Disease mutation, Elliptocytosis, Hereditary hemolytic anemia

Organism-specific databases

DisGeNETi6521
MalaCardsiSLC4A1
MIMi109270 gene+phenotype
110500 phenotype
112010 phenotype
112050 phenotype
130600 phenotype
166900 phenotype
179800 phenotype
185020 phenotype
601550 phenotype
601551 phenotype
611162 phenotype
611590 phenotype
612653 phenotype
OpenTargetsiENSG00000004939
Orphaneti93608 Autosomal dominant distal renal tubular acidosis
3202 Dehydrated hereditary stomatocytosis
93610 Distal renal tubular acidosis with anemia
398088 Hereditary cryohydrocytosis with normal stomatin
822 Hereditary spherocytosis
98868 Southeast Asian ovalocytosis
PharmGKBiPA35895

Polymorphism and mutation databases

BioMutaiSLC4A1
DMDMi114787

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000792091 – 911Band 3 anion transport proteinAdd BLAST911

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei1N-acetylmethionine2 Publications1
Modified residuei8Phosphotyrosine2 Publications1
Modified residuei21Phosphotyrosine2 Publications1
Modified residuei46Phosphotyrosine1 Publication1
Modified residuei185PhosphoserineBy similarity1
Modified residuei350PhosphoserineBy similarity1
Modified residuei359Phosphotyrosine1 Publication1
Glycosylationi642N-linked (GlcNAc...) (complex) asparagine2 Publications1
Lipidationi843S-palmitoyl cysteine1 Publication1
Modified residuei904Phosphotyrosine1 Publication1

Post-translational modificationi

Phosphorylated on Tyr-8 and Tyr-21 most likely by SYK. PP1-resistant phosphorylation that precedes Tyr-359 and Tyr-904 phosphorylation.2 Publications
Phosphorylated on Tyr-359 and Tyr-904 most likely by LYN. PP1-inhibited phosphorylation that follows Tyr-8 and Tyr-21 phosphorylation.2 Publications
N-glycosylated.1 Publication

Keywords - PTMi

Acetylation, Glycoprotein, Lipoprotein, Palmitate, Phosphoprotein

Proteomic databases

PaxDbiP02730
PeptideAtlasiP02730
PRIDEiP02730
ProteomicsDBi51557

PTM databases

GlyConnecti1024
iPTMnetiP02730
PhosphoSitePlusiP02730
SwissPalmiP02730

Miscellaneous databases

PMAP-CutDBiP02730

Expressioni

Tissue specificityi

Detected in erythrocytes (at protein level) (PubMed:7506871, PubMed:26542571). Isoform 2 is expressed in kidney (at protein level) (PubMed:7506871).5 Publications

Gene expression databases

BgeeiENSG00000004939 Expressed in 131 organ(s), highest expression level in trabecular bone tissue
ExpressionAtlasiP02730 baseline and differential
GenevisibleiP02730 HS

Organism-specific databases

HPAiCAB034438
HPA015584
HPA063911

Interactioni

Subunit structurei

A dimer in solution, but in its membrane environment, it exists primarily as a mixture of dimers and tetramers and spans the membrane asymmetrically. Interacts (via cytoplasmic N-terminal domain) with ANK1 (via N-terminal ANK repeats); tetramer formation is critical for ankyrin association. Interacts with STOM. Isoform 2 interacts with TM139 (PubMed:26049106).5 Publications

Binary interactionsi

GO - Molecular functioni

Protein-protein interaction databases

BioGridi112412, 12 interactors
CORUMiP02730
DIPiDIP-42428N
ELMiP02730
IntActiP02730, 25 interactors
MINTiP02730
STRINGi9606.ENSP00000262418

Structurei

Secondary structure

1911
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

ProteinModelPortaliP02730
SMRiP02730
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiP02730

Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni55 – 290GlobularAdd BLAST236
Regioni176 – 185Interaction with ANK1Curated10
Regioni304 – 357Dimerization armAdd BLAST54
Regioni559 – 630Involved in anion transportAdd BLAST72

Sequence similaritiesi

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG1172 Eukaryota
ENOG410XPHD LUCA
GeneTreeiENSGT00760000119021
HOVERGENiHBG004326
InParanoidiP02730
KOiK06573
OMAiFIYEEQI
OrthoDBiEOG091G01FT
PhylomeDBiP02730
TreeFamiTF313630

Family and domain databases

Gene3Di3.40.930.10, 1 hit
InterProiView protein in InterPro
IPR001717 Anion_exchange
IPR002977 Anion_exchange_1
IPR018241 Anion_exchange_CS
IPR013769 Band3_cytoplasmic_dom
IPR011531 HCO3_transpt_C
IPR003020 HCO3_transpt_euk
IPR016152 PTrfase/Anion_transptr
PANTHERiPTHR11453 PTHR11453, 1 hit
PfamiView protein in Pfam
PF07565 Band_3_cyto, 1 hit
PF00955 HCO3_cotransp, 2 hits
PRINTSiPR00165 ANIONEXCHNGR
PR01187 ANIONEXHNGR1
PR01231 HCO3TRNSPORT
SUPFAMiSSF55804 SSF55804, 1 hit
TIGRFAMsiTIGR00834 ae, 1 hit
PROSITEiView protein in PROSITE
PS00219 ANION_EXCHANGER_1, 1 hit
PS00220 ANION_EXCHANGER_2, 1 hit

Sequences (2+)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 2 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: P02730-1) [UniParc]FASTAAdd to basket
Also known as: eAE1, Erythrocyte

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MEELQDDYED MMEENLEQEE YEDPDIPESQ MEEPAAHDTE ATATDYHTTS
60 70 80 90 100
HPGTHKVYVE LQELVMDEKN QELRWMEAAR WVQLEENLGE NGAWGRPHLS
110 120 130 140 150
HLTFWSLLEL RRVFTKGTVL LDLQETSLAG VANQLLDRFI FEDQIRPQDR
160 170 180 190 200
EELLRALLLK HSHAGELEAL GGVKPAVLTR SGDPSQPLLP QHSSLETQLF
210 220 230 240 250
CEQGDGGTEG HSPSGILEKI PPDSEATLVL VGRADFLEQP VLGFVRLQEA
260 270 280 290 300
AELEAVELPV PIRFLFVLLG PEAPHIDYTQ LGRAAATLMS ERVFRIDAYM
310 320 330 340 350
AQSRGELLHS LEGFLDCSLV LPPTDAPSEQ ALLSLVPVQR ELLRRRYQSS
360 370 380 390 400
PAKPDSSFYK GLDLNGGPDD PLQQTGQLFG GLVRDIRRRY PYYLSDITDA
410 420 430 440 450
FSPQVLAAVI FIYFAALSPA ITFGGLLGEK TRNQMGVSEL LISTAVQGIL
460 470 480 490 500
FALLGAQPLL VVGFSGPLLV FEEAFFSFCE TNGLEYIVGR VWIGFWLILL
510 520 530 540 550
VVLVVAFEGS FLVRFISRYT QEIFSFLISL IFIYETFSKL IKIFQDHPLQ
560 570 580 590 600
KTYNYNVLMV PKPQGPLPNT ALLSLVLMAG TFFFAMMLRK FKNSSYFPGK
610 620 630 640 650
LRRVIGDFGV PISILIMVLV DFFIQDTYTQ KLSVPDGFKV SNSSARGWVI
660 670 680 690 700
HPLGLRSEFP IWMMFASALP ALLVFILIFL ESQITTLIVS KPERKMVKGS
710 720 730 740 750
GFHLDLLLVV GMGGVAALFG MPWLSATTVR SVTHANALTV MGKASTPGAA
760 770 780 790 800
AQIQEVKEQR ISGLLVAVLV GLSILMEPIL SRIPLAVLFG IFLYMGVTSL
810 820 830 840 850
SGIQLFDRIL LLFKPPKYHP DVPYVKRVKT WRMHLFTGIQ IICLAVLWVV
860 870 880 890 900
KSTPASLALP FVLILTVPLR RVLLPLIFRN VELQCLDADD AKATFDEEEG
910
RDEYDEVAMP V
Length:911
Mass (Da):101,792
Last modified:April 1, 1990 - v3
Checksum:i35EC3EE7AFF27D2F
GO
Isoform 21 Publication (identifier: P02730-2) [UniParc]FASTAAdd to basket
Also known as: kAE1, Kidney

The sequence of this isoform differs from the canonical sequence as follows:
     1-65: Missing.

Show »
Length:846
Mass (Da):94,195
Checksum:i4008B53D0121A617
GO

Computationally mapped potential isoform sequencesi

There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A0A0MS98A0A0A0MS98_HUMAN
Band 3 anion transport protein
SLC4A1
545Annotation score:
V9H0V9V9H0V9_HUMAN
Anion exchanger
SLC4A1
36Annotation score:

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti11M → D AA sequence (PubMed:6345535).Curated1
Sequence conflicti68E → EE AA sequence (PubMed:6345535).Curated1
Sequence conflicti759Q → H in ABD74692 (PubMed:16252102).Curated1

Polymorphismi

SLC4A1 is responsible for the Diego blood group system [MIMi:110500]. The molecular basis of the Di(a)=Di1/Di(b)/Di2 blood group antigens is a single variation in position 854; Leu-854 corresponds to Di(a) and Pro-854 to Di(b). The molecular basis of the Wr(a)=Di3/Wr(b)/Di4 blood group antigens is a single variation in position 658; Lys-658 corresponds to Wr(a) and Glu-658 to Wr(b). The blood group antigens Wd(a)=Di5 (Waldner-type) has Met-557; Rb(a)=Di6 has Leu-548 and WARR=Di7 has Ile-552.
SLC4A1 is responsible for the Swann blood group system (SW) [MIMi:601550]. Sw(a+) has a Gln or a Trp at position 646 and Sw(a-) has an Arg.
SLC4A1 is responsible for the Froese blood group system (FR) [MIMi:601551]. FR(a+) has a Lys at position 480 and FR(a-) has a Glu.
Genetic variations in SLC4A1 are involved in resistance to malaria [MIMi:611162].

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_05803527P → H1 Publication1
Natural variantiVAR_01461238D → A4 PublicationsCorresponds to variant dbSNP:rs5035EnsemblClinVar.1
Natural variantiVAR_00079840E → K Found in patients with hemolytic anemia; unknown pathological significance; Montefiore. 2 PublicationsCorresponds to variant dbSNP:rs45562031EnsemblClinVar.1
Natural variantiVAR_03669345D → E. Corresponds to variant dbSNP:rs34700496Ensembl.1
Natural variantiVAR_00079956K → E in Di(a)/Memphis-II antigen. 6 PublicationsCorresponds to variant dbSNP:rs5036EnsemblClinVar.1
Natural variantiVAR_03929068E → K. Corresponds to variant dbSNP:rs13306787EnsemblClinVar.1
Natural variantiVAR_05803672E → D1 PublicationCorresponds to variant dbSNP:rs13306788EnsemblClinVar.1
Natural variantiVAR_03929173L → M1 PublicationCorresponds to variant dbSNP:rs781490287Ensembl.1
Natural variantiVAR_01378490E → K in SPH4; Cape Town. 1 PublicationCorresponds to variant dbSNP:rs28929480EnsemblClinVar.1
Natural variantiVAR_014613112R → S. Corresponds to variant dbSNP:rs5037Ensembl.1
Natural variantiVAR_013785130G → R in SPH4; Fukoka. 1 PublicationCorresponds to variant dbSNP:rs121912749EnsemblClinVar.1
Natural variantiVAR_013786147P → S in SPH4; Mondego. 1 Publication1
Natural variantiVAR_013787285A → D in SPH4; Boston. 1 Publication1
Natural variantiVAR_000800327P → R in SPH4; Tuscaloosa. 1 PublicationCorresponds to variant dbSNP:rs28931583EnsemblClinVar.1
Natural variantiVAR_000801400 – 408Missing in SAO; increased rigidity of the erythrocyte membrane leading to increased resistance to shear stress and increased resistance to P.falciparum. 2 Publications9
Natural variantiVAR_058037429E → D in NFLD+ antigen. 1 PublicationCorresponds to variant dbSNP:rs1048804130Ensembl.1
Natural variantiVAR_013788432R → W in ELO antigen. Corresponds to variant dbSNP:rs373768879Ensembl.1
Natural variantiVAR_014614442I → F. Corresponds to variant dbSNP:rs5018Ensembl.1
Natural variantiVAR_013789455G → E in SPH4; Benesov. 1 Publication1
Natural variantiVAR_058038455G → R in SPH4; Yamagata. 1 Publication1
Natural variantiVAR_013790480E → K in FR(a+) antigen. 1 PublicationCorresponds to variant dbSNP:rs121912756EnsemblClinVar.1
Natural variantiVAR_013791488V → M in SPH4; Coimbra; also in AR-dRTA. 2 PublicationsCorresponds to variant dbSNP:rs28931584EnsemblClinVar.1
Natural variantiVAR_013792490R → C in SPH4; Bicetre I. 1 PublicationCorresponds to variant dbSNP:rs1398477044Ensembl.1
Natural variantiVAR_058039490R → H in SPH4; Pinhal. 1 Publication1
Natural variantiVAR_025090508E → K1 PublicationCorresponds to variant dbSNP:rs45568837Ensembl.1
Natural variantiVAR_000802518R → C in SPH4; Dresden. 1 PublicationCorresponds to variant dbSNP:rs868742796Ensembl.1
Natural variantiVAR_000803548P → L in RB(A) antigen. Corresponds to variant dbSNP:rs879202054Ensembl.1
Natural variantiVAR_013793551K → N in TR(A) antigen. 1
Natural variantiVAR_000804552T → I in WARR antigen. 1
Natural variantiVAR_013794555Y → H in VG(a) antigen. 1
Natural variantiVAR_000805557V → M in WD(a) antigen. Corresponds to variant dbSNP:rs121912743EnsemblClinVar.1
Natural variantiVAR_058040561P → A in NFLD+ antigen. 1 Publication1
Natural variantiVAR_013795561P → S in BOW antigen. 1 Publication1
Natural variantiVAR_013796565G → A in WU antigen. Corresponds to variant dbSNP:rs551784583Ensembl.1
Natural variantiVAR_013797566P → A in KREP antigen. 1
Natural variantiVAR_013798566P → S in PN(a) antigen. Corresponds to variant dbSNP:rs1393742050Ensembl.1
Natural variantiVAR_013799569N → K in BP(a) antigen. 1
Natural variantiVAR_014615586M → L. Corresponds to variant dbSNP:rs5019Ensembl.1
Natural variantiVAR_015104589R → C in AD-dRTA; reduced red cell sulfate transport and altered glycosylation of the red cell band 3 N-glycan chain. 1 PublicationCorresponds to variant dbSNP:rs121912745EnsemblClinVar.1
Natural variantiVAR_015105589R → H in AD-dRTA. 2 PublicationsCorresponds to variant dbSNP:rs121912744EnsemblClinVar.1
Natural variantiVAR_015106589R → S in AD-dRTA. 1 PublicationCorresponds to variant dbSNP:rs121912745EnsemblClinVar.1
Natural variantiVAR_039292602R → P in dRTA-HA. 1 PublicationCorresponds to variant dbSNP:rs121912754EnsemblClinVar.1
Natural variantiVAR_058041609G → R in AD-dRTA; detected subapically and at the apical membrane as well as at the basolateral membrane in contrast to the normal basolateral appearance of wild-type protein. 1 PublicationCorresponds to variant dbSNP:rs878853002EnsemblClinVar.1
Natural variantiVAR_015107613S → F in AD-dRTA; markedly increased red cell sulfate transport but almost normal red cell iodide transport. 1 PublicationCorresponds to variant dbSNP:rs121912746EnsemblClinVar.1
Natural variantiVAR_013800646R → Q in SW(a+) antigen. 1 PublicationCorresponds to variant dbSNP:rs121912757EnsemblClinVar.1
Natural variantiVAR_013801646R → W in SW(a+) antigen. 1 PublicationCorresponds to variant dbSNP:rs121912758EnsemblClinVar.1
Natural variantiVAR_013802656R → C in HG(a) antigen. Corresponds to variant dbSNP:rs372514760Ensembl.1
Natural variantiVAR_013803656R → H in MO(a) antigen. Corresponds to variant dbSNP:rs758868427Ensembl.1
Natural variantiVAR_000806658E → K in WR(a) antigen. 1 PublicationCorresponds to variant dbSNP:rs75731670EnsemblClinVar.1
Natural variantiVAR_058042663M → K in SPH4; Tambau. 1 Publication1
Natural variantiVAR_000807663Missing in SPH4; Osnabruck II. 1 Publication1
Natural variantiVAR_039293687L → P in CHC; Blackburn; induces abnormal cations sodium and potassium fluxes; decreases anion chloride transport. 1 PublicationCorresponds to variant dbSNP:rs863225463EnsemblClinVar.1
Natural variantiVAR_014616688I → V. Corresponds to variant dbSNP:rs5022Ensembl.1
Natural variantiVAR_014617690S → G. Corresponds to variant dbSNP:rs5023Ensembl.1
Natural variantiVAR_015171701G → D in dRTA-HA; impairs expression at the cell membrane. 3 PublicationsCorresponds to variant dbSNP:rs121912748EnsemblClinVar.1
Natural variantiVAR_039294705D → Y in SPH4; Horam; induces abnormal cations sodium and potassium fluxes; decreases anion chloride transport. 1 Publication1
Natural variantiVAR_013804707L → P in SPH4; Most. 2 Publications1
Natural variantiVAR_013805714G → R in SPH4; Okinawa. 1 Publication1
Natural variantiVAR_039295731S → P in CHC; Hemel; induces abnormal cations sodium and potassium fluxes; decreases anion chloride transport. 1 PublicationCorresponds to variant dbSNP:rs863225461EnsemblClinVar.1
Natural variantiVAR_039296734H → R in CHC; Hurstpierpont; induces abnormal cations sodium and potassium fluxes; decreases anion chloride transport. 1 PublicationCorresponds to variant dbSNP:rs863225462EnsemblClinVar.1
Natural variantiVAR_013806760R → Q in SPH4; Prague II; induces abnormal cations sodium and potassium fluxes; decreases anion chloride transport. 4 PublicationsCorresponds to variant dbSNP:rs121912755EnsemblClinVar.1
Natural variantiVAR_013807760R → W in SPH4; Hradec Kralove. 3 PublicationsCorresponds to variant dbSNP:rs373916826Ensembl.1
Natural variantiVAR_013808771G → D in SPH4; Chur. 1 PublicationCorresponds to variant dbSNP:rs121912741EnsemblClinVar.1
Natural variantiVAR_039297773S → P in dRTA-NRC. 1 PublicationCorresponds to variant dbSNP:rs121912753EnsemblClinVar.1
Natural variantiVAR_013809783I → N in SPH4; Napoli II. 1 Publication1
Natural variantiVAR_013810808R → C in SPH4; Jablonec. 2 PublicationsCorresponds to variant dbSNP:rs1167814744Ensembl.1
Natural variantiVAR_013811808R → H in SPH4; Nara. 1 PublicationCorresponds to variant dbSNP:rs866727908EnsemblClinVar.1
Natural variantiVAR_014618832R → H. Corresponds to variant dbSNP:rs5025Ensembl.1
Natural variantiVAR_013812834H → P in SPH4; Birmingham. 2 Publications1
Natural variantiVAR_013813837T → A in SPH4; Tokyo. 1 PublicationCorresponds to variant dbSNP:rs121912750EnsemblClinVar.1
Natural variantiVAR_013814837T → M in SPH4; Philadelphia. 4 Publications1
Natural variantiVAR_058043837T → R in SPH4; Nagoya. 1 Publication1
Natural variantiVAR_015109850Missing in dRTA-HA. 1 Publication1
Natural variantiVAR_000808854P → L in Di(a)/Memphis-II antigen. 2 PublicationsCorresponds to variant dbSNP:rs2285644EnsemblClinVar.1
Natural variantiVAR_015108858A → D in AD-dRTA; impairs expression at the cell membrane. 2 PublicationsCorresponds to variant dbSNP:rs121912751EnsemblClinVar.1
Natural variantiVAR_014619862V → I Polymorphism. 2 PublicationsCorresponds to variant dbSNP:rs5026EnsemblClinVar.1
Natural variantiVAR_013815868P → L in acanthocytosis; slightly increases transporter activity; impairs expression at the cell membrane. 2 PublicationsCorresponds to variant dbSNP:rs121912759EnsemblClinVar.1
Natural variantiVAR_013816870R → W in SPH4; Prague III. 3 PublicationsCorresponds to variant dbSNP:rs28931585EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0578331 – 65Missing in isoform 2. 1 PublicationAdd BLAST65

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
X12609 mRNA Translation: CAA31128.1
M27819 mRNA Translation: AAA35514.1
DQ419529 mRNA Translation: ABD74692.1
GQ981383 mRNA Translation: ADN39420.1
GQ981384 mRNA Translation: ADN39421.1
DQ072115 Genomic DNA Translation: AAY57324.1
CH471178 Genomic DNA Translation: EAW51614.1
BC096106 mRNA Translation: AAH96106.1
BC096107 mRNA Translation: AAH96107.1
BC099628 mRNA Translation: AAH99628.1
BC099629 mRNA Translation: AAH99629.1
BC101570 mRNA Translation: AAI01571.1
BC101574 mRNA Translation: AAI01575.1
S68680 mRNA Translation: AAC60608.2
CCDSiCCDS11481.1 [P02730-1]
PIRiA36218 B3HU
RefSeqiNP_000333.1, NM_000342.3 [P02730-1]
XP_005257650.1, XM_005257593.4 [P02730-2]
UniGeneiHs.210751
Hs.443948

Genome annotation databases

EnsembliENST00000262418; ENSP00000262418; ENSG00000004939 [P02730-1]
GeneIDi6521
KEGGihsa:6521
UCSCiuc002igf.5 human [P02730-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Cross-referencesi

Web resourcesi

Wikipedia

Band 3 entry

dbRBC/BGMUT

Blood group antigen gene mutation database

SeattleSNPs
Atlas of Genetics and Cytogenetics in Oncology and Haematology

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
X12609 mRNA Translation: CAA31128.1
M27819 mRNA Translation: AAA35514.1
DQ419529 mRNA Translation: ABD74692.1
GQ981383 mRNA Translation: ADN39420.1
GQ981384 mRNA Translation: ADN39421.1
DQ072115 Genomic DNA Translation: AAY57324.1
CH471178 Genomic DNA Translation: EAW51614.1
BC096106 mRNA Translation: AAH96106.1
BC096107 mRNA Translation: AAH96107.1
BC099628 mRNA Translation: AAH99628.1
BC099629 mRNA Translation: AAH99629.1
BC101570 mRNA Translation: AAI01571.1
BC101574 mRNA Translation: AAI01575.1
S68680 mRNA Translation: AAC60608.2
CCDSiCCDS11481.1 [P02730-1]
PIRiA36218 B3HU
RefSeqiNP_000333.1, NM_000342.3 [P02730-1]
XP_005257650.1, XM_005257593.4 [P02730-2]
UniGeneiHs.210751
Hs.443948

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1BH7NMR-A803-835[»]
1BNXNMR-A389-430[»]
1BTQNMR-A405-424[»]
1BTRNMR-A405-424[»]
1BTSNMR-A436-456[»]
1BTTNMR-A436-456[»]
1BZKNMR-A389-430[»]
1HYNX-ray2.60P/Q/R/S1-379[»]
2BTANMR-A1-15[»]
2BTBNMR-A1-15[»]
3BTBNMR-A1-15[»]
4KY9X-ray2.23A/P51-356[»]
4YZFX-ray3.50A/B/C/D1-911[»]
ProteinModelPortaliP02730
SMRiP02730
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi112412, 12 interactors
CORUMiP02730
DIPiDIP-42428N
ELMiP02730
IntActiP02730, 25 interactors
MINTiP02730
STRINGi9606.ENSP00000262418

Protein family/group databases

MoonDBiP02730 Curated
MoonProtiP02730
TCDBi2.A.31.1.1 the anion exchanger (ae) family

PTM databases

GlyConnecti1024
iPTMnetiP02730
PhosphoSitePlusiP02730
SwissPalmiP02730

Polymorphism and mutation databases

BioMutaiSLC4A1
DMDMi114787

Proteomic databases

PaxDbiP02730
PeptideAtlasiP02730
PRIDEiP02730
ProteomicsDBi51557

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000262418; ENSP00000262418; ENSG00000004939 [P02730-1]
GeneIDi6521
KEGGihsa:6521
UCSCiuc002igf.5 human [P02730-1]

Organism-specific databases

CTDi6521
DisGeNETi6521
EuPathDBiHostDB:ENSG00000004939.13
GeneCardsiSLC4A1
HGNCiHGNC:11027 SLC4A1
HPAiCAB034438
HPA015584
HPA063911
MalaCardsiSLC4A1
MIMi109270 gene+phenotype
110500 phenotype
112010 phenotype
112050 phenotype
130600 phenotype
166900 phenotype
179800 phenotype
185020 phenotype
601550 phenotype
601551 phenotype
611162 phenotype
611590 phenotype
612653 phenotype
neXtProtiNX_P02730
OpenTargetsiENSG00000004939
Orphaneti93608 Autosomal dominant distal renal tubular acidosis
3202 Dehydrated hereditary stomatocytosis
93610 Distal renal tubular acidosis with anemia
398088 Hereditary cryohydrocytosis with normal stomatin
822 Hereditary spherocytosis
98868 Southeast Asian ovalocytosis
PharmGKBiPA35895
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG1172 Eukaryota
ENOG410XPHD LUCA
GeneTreeiENSGT00760000119021
HOVERGENiHBG004326
InParanoidiP02730
KOiK06573
OMAiFIYEEQI
OrthoDBiEOG091G01FT
PhylomeDBiP02730
TreeFamiTF313630

Enzyme and pathway databases

ReactomeiR-HSA-1237044 Erythrocytes take up carbon dioxide and release oxygen
R-HSA-1247673 Erythrocytes take up oxygen and release carbon dioxide
R-HSA-425381 Bicarbonate transporters
R-HSA-5619050 Defective SLC4A1 causes hereditary spherocytosis type 4 (HSP4), distal renal tubular acidosis (dRTA) and dRTA with hemolytic anemia (dRTA-HA)
SIGNORiP02730

Miscellaneous databases

ChiTaRSiSLC4A1 human
EvolutionaryTraceiP02730
GeneWikiiBand_3
GenomeRNAii6521
PMAP-CutDBiP02730
PROiPR:P02730
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000004939 Expressed in 131 organ(s), highest expression level in trabecular bone tissue
ExpressionAtlasiP02730 baseline and differential
GenevisibleiP02730 HS

Family and domain databases

Gene3Di3.40.930.10, 1 hit
InterProiView protein in InterPro
IPR001717 Anion_exchange
IPR002977 Anion_exchange_1
IPR018241 Anion_exchange_CS
IPR013769 Band3_cytoplasmic_dom
IPR011531 HCO3_transpt_C
IPR003020 HCO3_transpt_euk
IPR016152 PTrfase/Anion_transptr
PANTHERiPTHR11453 PTHR11453, 1 hit
PfamiView protein in Pfam
PF07565 Band_3_cyto, 1 hit
PF00955 HCO3_cotransp, 2 hits
PRINTSiPR00165 ANIONEXCHNGR
PR01187 ANIONEXHNGR1
PR01231 HCO3TRNSPORT
SUPFAMiSSF55804 SSF55804, 1 hit
TIGRFAMsiTIGR00834 ae, 1 hit
PROSITEiView protein in PROSITE
PS00219 ANION_EXCHANGER_1, 1 hit
PS00220 ANION_EXCHANGER_2, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiB3AT_HUMAN
AccessioniPrimary (citable) accession number: P02730
Secondary accession number(s): G4V2I6
, P78487, Q1ZZ45, Q4KKW9, Q4VB84, Q9UCY7, Q9UDJ1
Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 21, 1986
Last sequence update: April 1, 1990
Last modified: November 7, 2018
This is version 243 of the entry and version 3 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. Human chromosome 17
    Human chromosome 17: entries, gene names and cross-references to MIM
  6. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  7. Blood group antigen proteins
    Nomenclature of blood group antigens and list of entries
  8. Human cell differentiation molecules
    CD nomenclature of surface proteins of human leucocytes and list of entries
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

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