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

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