B3AT_HUMAN
Source:
hRBCD
; ID:
IPI00022361
PM19886704
PM23856902
BGMUT
; ID: diego
BSc_CH
PM22954596
Marked as 'Integral membrane protein'
Confidence:
high (a blood group or CD marker)
Search PubMed for
(RBC AND this entry)
Gene names:
SLC4A1
, AE1, DI, EPB3
Protein names and data:
B3AT_HUMAN
, Band 3 anion transport protein
, Anion exchange protein 1; AE 1; Anion exchanger 1; Solute carrier family 4 member 1; CD233
Lenght: 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
)
Elliptocytosis 4 (EL4) [MIM:109270]: 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. Note=The disease is caused by mutations affecting the gene represented in this entry. Spherocytosis 4 (SPH4) [MIM:612653]: Spherocytosis is a hematologic disorder leading to chronic hemolytic anemia and characterized by numerous abnormally shaped erythrocytes which are generally spheroidal. Note=The disease is caused by mutations affecting the gene represented in this entry. Renal tubular acidosis, distal, autosomal dominant (AD- dRTA) [MIM:179800]: An 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. Note=The disease is caused by mutations affecting the gene represented in this entry. 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. Note=The disease is caused by mutations affecting the gene represented in this entry. 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. 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. Note=The disease is caused by mutations affecting the gene represented in this entry.
Cellular location:
Membrane; Multi-pass membrane protein.
Tissue specificity:
Erythrocytes.
Genetic variants
SLC4A1 is responsible for the Diego blood group system. 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) [MIM: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) [MIM: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 [MIM:611162].
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 (in dbSNP:rs13306788). VAR_058036
13306788
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; dbSNP:rs121912748). VAR_015171
121912748
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
Database cross-references
UniProt:
P02730
Ensembl:
ENST00000262418
MIM:
109270
MIM:
110500
MIM:
112010
MIM:
112050
MIM:
130600
MIM:
179800
MIM:
601550
MIM:
601551
MIM:
611162
MIM:
611590
MIM:
612653
neXtProt:
NX_P02730
Antibodypedia:
P02730
(may not find the protein thus also not any antibody)
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