SLC4A1
Protein name:
AE1
Aliases:
Band 3
Substrates:
chloride cicarbonate
Transport type:
Exchanger
Tissue and cellular expression:
erythrocytes, intercalated cells of renal collecting duct, heart, colon
Subcellular expression:
N/D
Disease:
hemolytic anemia, distal renal tubular acidosis
Locus:
17q21-q22
Sequence ID:
NP_000333.1,
NM_000342.3
Gene ID:
6521
Splice variants:
2 splice variants
B3AT_HUMAN (UniProt)
Gene names:
SLC4A1, AE1, DI, EPB3
Protein names and data:
B3AT_HUMAN, Full=Band 3 anion transport protein, Full=Anion exchange protein 1;Short=AE 1;Short=Anion exchanger 1;Full=Solute carrier family 4 member 1;CD_antigen=CD233;
Length: 911 a.a., Mass: 101792 Da,
fasta formatted sequence
Function:
Band 3 is the major integral glycoprotein of the erythrocyte membrane. Band 3 has two functional domains. Its integral domain mediates a 1:1 exchange of inorganic anions across the membrane, whereas its cytoplasmic domain provides binding sites for cytoskeletal proteins, glycolytic enzymes, and hemoglobin
Disease:
(OMIM:
109270 110500 112010 112050 130600 179800 601550 601551 611162 611590 612653)
Defects in SLC4A1 are the cause of elliptocytosis type 4 (EL4) [MIM:109270]. EL4 is a Rhesus-unlinked form of hereditary elliptocytosis, a genetically heterogeneous, autosomal dominant hematologic disorder. It is characterized by variable hemolytic anemia and elliptical or oval red cell shape; Defects in SLC4A1 are the cause of spherocytosis type 4 (SPH4) [MIM:612653]; also known as hereditary spherocytosis type 4 (HS4). Spherocytosis is a hematologic disorder leading to chronic hemolytic anemia and characterized by numerous abnormally shaped erythrocytes which are generally spheroidal; Defects in SLC4A1 are the cause of renal tubular acidosis, distal, autosomal dominant (AD-dRTA) [MIM:179800]. A disease characterized by reduced ability to acidify urine, variable hyperchloremic hypokalemic metabolic acidosis, nephrocalcinosis, and nephrolithiasis; Defects in SLC4A1 are the cause of renal tubular acidosis, distal, with hemolytic anemia (dRTA-HA) [MIM:611590]. A 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; Defects in SLC4A1 are the cause of renal tubular acidosis, distal, with normal red cell morphology (dRTA-NRC) [MIM:611590]. A disease characterized by reduced ability to acidify urine, variable hyperchloremic hypokalemic metabolic acidosis, nephrocalcinosis, and nephrolithiasis
Cellular location:
Membrane; Multi-pass membrane protein
Tissue specificity:
Erythrocytes
Database cross-references
UniProt:
P02730
NextBio:
25367
OMIM:
109270
110500
112010
112050
130600
179800
601550
601551
611162
611590
612653
Ensembl:
ENST00000262418
GeneCard:
GC17M044249
TCDB:
2.A.31.1.1
PharmGenUCSF:
SLC4A1
Guide to Pharmacology:
SLC4A1 (904)
Anion exchangers (904)
HGNC:
HGNC:11027
Genetic variants
Genetic variations in SLC4A1 are involved in resistance to malaria [MIM:611162]. See also Ensembl:ENST00000262418
27 - 27
P -> H (in dbSNP:rs55777403). VAR_058035
55777403
38 - 38
D -> A (in dbSNP:rs5035). VAR_014612
5035
40 - 40
E -> K (in hemolytic anemia; Montefiore; dbSNP:rs45562031). VAR_000798
45562031
45 - 45
D -> E (in dbSNP:rs34700496). VAR_036693
34700496
56 - 56
K -> E (in Di(a)/Memphis-II antigen; dbSNP:rs5036). VAR_000799
5036
68 - 68
E -> K (in dbSNP:rs13306787). VAR_039290
13306787
72 - 72
E -> D. VAR_058036
73 - 73
L -> M. VAR_039291
90 - 90
E -> K (in SPH4; Cape Town; dbSNP:rs28929480). VAR_013784
28929480
112 - 112
R -> S (in dbSNP:rs5037). VAR_014613
5037
130 - 130
G -> R (in SPH4; Fukoka). VAR_013785
147 - 147
P -> S (in SPH4; Mondego). VAR_013786
285 - 285
A -> D (in SPH4; Boston). VAR_013787
327 - 327
P -> R (in SPH4; Tuscaloosa; dbSNP:rs28931583). VAR_000800
28931583
400 - 408
Missing (in EL4). VAR_000801
429 - 429
E -> D (in NFLD+ antigen). VAR_058037
432 - 432
R -> W (in ELO antigen). VAR_013788
442 - 442
I -> F (in dbSNP:rs5018). VAR_014614
5018
455 - 455
G -> E (in SPH4; Benesov). VAR_013789
455 - 455
G -> R (in SPH4; Yamagata). VAR_058038
480 - 480
E -> K (in FR(a+) antigen). VAR_013790
488 - 488
V -> M (in SPH4; Coimbra; also in AR- dRTA; dbSNP:rs28931584). VAR_013791
28931584
490 - 490
R -> C (in SPH4; Bicetre I). VAR_013792
490 - 490
R -> H (in SPH4; Pinhal). VAR_058039
508 - 508
E -> K (in dbSNP:rs45568837). VAR_025090
45568837
518 - 518
R -> C (in SPH4; Dresden). VAR_000802
548 - 548
P -> L (in RB(A) antigen). VAR_000803
551 - 551
K -> N (in TR(A) antigen). VAR_013793
552 - 552
T -> I (in WARR antigen). VAR_000804
555 - 555
Y -> H (in VG(a) antigen). VAR_013794
557 - 557
V -> M (in WD(a) antigen). VAR_000805
561 - 561
P -> A (in NFLD+ antigen). VAR_058040
561 - 561
P -> S (in BOW antigen). VAR_013795
565 - 565
G -> A (in WU antigen). VAR_013796
566 - 566
P -> A (in KREP antigen). VAR_013797
566 - 566
P -> S (in PN(a) antigen). VAR_013798
569 - 569
N -> K (in BP(a) antigen). VAR_013799
586 - 586
M -> L (in dbSNP:rs5019). VAR_014615
5019
589 - 589
R -> C (in AD-dRTA; reduced red cell sulfate transport and altered glycosylation of the red cell band 3 N- glycan chain). VAR_015104
589 - 589
R -> H (in AD-dRTA). VAR_015105
589 - 589
R -> S (in AD-dRTA). VAR_015106
602 - 602
R -> P (in dRTA-HA). VAR_039292
609 - 609
G -> 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). VAR_058041
613 - 613
S -> F (in AD-dRTA; markedly increased red cell sulfate transport but almost normal red cell iodide transport). VAR_015107
646 - 646
R -> Q (in SW(a+) antigen). VAR_013800
646 - 646
R -> W (in SW(a+) antigen). VAR_013801
656 - 656
R -> C (in HG(a) antigen). VAR_013802
656 - 656
R -> H (in MO(a) antigen). VAR_013803
658 - 658
E -> K (in WR(a) antigen). VAR_000806
663 - 663
M -> K (in SPH4; Tambau). VAR_058042
663 - 663
Missing (in SPH4; Osnabruck II). VAR_000807
687 - 687
L -> P (in SPH4). VAR_039293
688 - 688
I -> V (in dbSNP:rs5022). VAR_014616
5022
690 - 690
S -> G (in dbSNP:rs5023). VAR_014617
5023
701 - 701
G -> D (in dRTA-HA). VAR_015171
705 - 705
D -> Y (in SPH4). VAR_039294
707 - 707
L -> P (in SPH4; Most). VAR_013804
714 - 714
G -> R (in SPH4; Okinawa). VAR_013805
731 - 731
S -> P (in SPH4). VAR_039295
734 - 734
H -> R (in SPH4). VAR_039296
760 - 760
R -> Q (in SPH4; Prague II). VAR_013806
760 - 760
R -> W (in SPH4; Hradec Kralove). VAR_013807
771 - 771
G -> D (in SPH4; Chur). VAR_013808
773 - 773
S -> P (in dRTA-NRC). VAR_039297
783 - 783
I -> N (in SPH4; Napoli II). VAR_013809
808 - 808
R -> C (in SPH4; Jablonec). VAR_013810
808 - 808
R -> H (in SPH4; Nara). VAR_013811
832 - 832
R -> H (in dbSNP:rs5025). VAR_014618
5025
834 - 834
H -> P (in SPH4; Birmingham). VAR_013812
837 - 837
T -> A (in SPH4; Tokyo). VAR_013813
837 - 837
T -> M (in SPH4; Philadelphia). VAR_013814
837 - 837
T -> R (in SPH4; Nagoya). VAR_058043
850 - 850
Missing (in dRTA-HA). VAR_015109
854 - 854
P -> L (in Di(a)/Memphis-II antigen; dbSNP:rs2285644). VAR_000808
2285644
858 - 858
A -> D (in AD-dRTA). VAR_015108
862 - 862
V -> I (in dbSNP:rs5026). VAR_014619
5026
868 - 868
P -> L (in acanthocytosis; due to band 3 high transport). VAR_013815
870 - 870
R -> W (in SPH4; Prague III; dbSNP:rs28931585). VAR_013816
28931585