Free for academic non-profit institutions. Other users need a Commercial license

Aliases for SLC4A1 Gene

Aliases for SLC4A1 Gene

  • Solute Carrier Family 4 (Anion Exchanger), Member 1 (Diego Blood Group) 2 3
  • EPB3 3 4 6
  • AE1 3 4 6
  • Solute Carrier Family 4, Anion Exchanger, Member 1 (Erythrocyte Membrane Protein Band 3, Diego Blood Group) 2 3
  • Erythrocyte Membrane Protein Band 3 2 3
  • Anion Exchange Protein 1 3 4
  • Waldner Blood Group 2 3
  • Froese Blood Group 2 3
  • Wright Blood Group 2 3
  • Swann Blood Group 2 3
  • Diego Blood Group 2 3
  • Anion Exchanger 1 3 4
  • DI 3 4
  • Solute Carrier Family 4 (Anion Exchanger), Member 1 2
  • Solute Carrier Family 4, Anion Exchanger, Number 1 3
  • Erythroid Anion Exchange Protein 3
  • Solute Carrier Family 4 Member 1 4
  • Band 3 Anion Transport Protein 3
  • Anion Exchanger-1 3
  • CD233 Antigen 4
  • CD233 3
  • EMPB3 3
  • RTA1A 3
  • BND3 3
  • AE 1 4
  • WD1 3
  • FR 3
  • SW 3
  • WR 3
  • WD 3

External Ids for SLC4A1 Gene

Previous HGNC Symbols for SLC4A1 Gene

  • EPB3
  • AE1
  • DI
  • WD

Previous GeneCards Identifiers for SLC4A1 Gene

  • GC17M042068
  • GC17M044504
  • GC17M042337
  • GC17M042802
  • GC17M039683
  • GC17M038089

Summaries for SLC4A1 Gene

Entrez Gene Summary for SLC4A1 Gene

  • The protein encoded by this gene is part of the anion exchanger (AE) family and is expressed in the erythrocyte plasma membrane, where it functions as a chloride/bicarbonate exchanger involved in carbon dioxide transport from tissues to lungs. The protein comprises two domains that are structurally and functionally distinct. The N-terminal 40kDa domain is located in the cytoplasm and acts as an attachment site for the red cell skeleton by binding ankyrin. The glycosylated C-terminal membrane-associated domain contains 12-14 membrane spanning segments and carries out the stilbene disulphonate-sensitive exchange transport of anions. The cytoplasmic tail at the extreme C-terminus of the membrane domain binds carbonic anhydrase II. The encoded protein associates with the red cell membrane protein glycophorin A and this association promotes the correct folding and translocation of the exchanger. This protein is predominantly dimeric but forms tetramers in the presence of ankyrin. Many mutations in this gene are known in man, and these mutations can lead to two types of disease: destabilization of red cell membrane leading to hereditary spherocytosis, and defective kidney acid secretion leading to distal renal tubular acidosis. Other mutations that do not give rise to disease result in novel blood group antigens, which form the Diego blood group system. Southeast Asian ovalocytosis (SAO, Melanesian ovalocytosis) results from the heterozygous presence of a deletion in the encoded protein and is common in areas where Plasmodium falciparum malaria is endemic. One null mutation in this gene is known, resulting in very severe anemia and nephrocalcinosis. [provided by RefSeq, Jul 2008]

GeneCards Summary for SLC4A1 Gene

SLC4A1 (Solute Carrier Family 4 (Anion Exchanger), Member 1 (Diego Blood Group)) is a Protein Coding gene. Diseases associated with SLC4A1 include spherocytosis, type 4 and renal tubular acidosis, distal, ad. Among its related pathways are Metabolism and Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds. GO annotations related to this gene include protein homodimerization activity and protein C-terminus binding. An important paralog of this gene is SLC4A8.

UniProtKB/Swiss-Prot for SLC4A1 Gene

  • 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.

Gene Wiki entry for SLC4A1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SLC4A1 Gene

Genomics for SLC4A1 Gene

Regulatory Elements for SLC4A1 Gene

Genomic Location for SLC4A1 Gene

Start:
44,248,385 bp from pter
End:
44,274,286 bp from pter
Size:
25,902 bases
Orientation:
Minus strand

Genomic View for SLC4A1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for SLC4A1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SLC4A1 Gene

Proteins for SLC4A1 Gene

  • Protein details for SLC4A1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P02730-B3AT_HUMAN
    Recommended name:
    Band 3 anion transport protein
    Protein Accession:
    P02730
    Secondary Accessions:
    • G4V2I6
    • P78487
    • Q1ZZ45
    • Q4KKW9
    • Q4VB84
    • Q9UCY7
    • Q9UDJ1

    Protein attributes for SLC4A1 Gene

    Size:
    911 amino acids
    Molecular mass:
    101792 Da
    Quaternary structure:
    • 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.

    Three dimensional structures from OCA and Proteopedia for SLC4A1 Gene

neXtProt entry for SLC4A1 Gene

Proteomics data for SLC4A1 Gene at MOPED

Post-translational modifications for SLC4A1 Gene

  • Phosphorylated on Tyr-359 and Tyr-904 most likely by LYN. PP1-inhibited phosphorylation that follows Tyr-8 and Tyr-21 phosphorylation.
  • Phosphorylated on Tyr-8 and Tyr-21 most likely by SYK. PP1-resistant phosphorylation that precedes Tyr-359 and Tyr-904 phosphorylation.
  • Glycosylation at Asn642
  • Modification sites at PhosphoSitePlus

Other Protein References for SLC4A1 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

Antibody Products

No data available for DME Specific Peptides for SLC4A1 Gene

Domains for SLC4A1 Gene

Gene Families for SLC4A1 Gene

HGNC:
IUPHAR :

Graphical View of Domain Structure for InterPro Entry

P02730

UniProtKB/Swiss-Prot:

B3AT_HUMAN :
  • P02730
Family:
  • Belongs to the anion exchanger (TC 2.A.31) family.
genes like me logo Genes that share domains with SLC4A1: view

Function for SLC4A1 Gene

Molecular function for SLC4A1 Gene

GENATLAS Biochemistry: solute carrier protein 4 (chloride-bicarbonate,anion exchange across the basolateral surface),member 1,expressed in erythrocyte and kidney distal collecting tubule
UniProtKB/Swiss-Prot EnzymeRegulation: Phenyl isothiocyanate inhibits anion transport in vitro
UniProtKB/Swiss-Prot Function: 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.

Gene Ontology (GO) - Molecular Function for SLC4A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003779 actin binding IEA --
GO:0005215 transporter activity --
GO:0005452 inorganic anion exchanger activity TAS --
GO:0005515 protein binding IPI 16669616
GO:0008022 protein C-terminus binding IEA --
genes like me logo Genes that share ontologies with SLC4A1: view
genes like me logo Genes that share phenotypes with SLC4A1: view

Animal Models for SLC4A1 Gene

MGI Knock Outs for SLC4A1:

Animal Model Products

CRISPR Products

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targeting and HOMER Transcription for SLC4A1 Gene

Localization for SLC4A1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SLC4A1 Gene

Cell membrane; Multi-pass membrane protein. Basolateral cell membrane; Multi-pass membrane protein. Note=Detected in the erythrocyte cell membrane and on the basolateral membrane of alpha-intercalated cells in the collecting duct in the kidney.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SLC4A1 Gene COMPARTMENTS Subcellular localization image for SLC4A1 gene
Compartment Confidence
cytoskeleton 5
plasma membrane 5
cytosol 1
endoplasmic reticulum 1
extracellular 1
nucleus 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for SLC4A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane IDA 24121512
GO:0016020 membrane --
GO:0016021 integral component of membrane NAS 1527044
GO:0016323 basolateral plasma membrane IDA 12539048
genes like me logo Genes that share ontologies with SLC4A1: view

Pathways for SLC4A1 Gene

genes like me logo Genes that share pathways with SLC4A1: view

Gene Ontology (GO) - Biological Process for SLC4A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport --
GO:0006811 ion transport TAS --
GO:0006820 anion transport IDA 14734552
GO:0006821 chloride transport ISS --
GO:0006873 cellular ion homeostasis TAS 8841202
genes like me logo Genes that share ontologies with SLC4A1: view

Compounds for SLC4A1 Gene

(34) Novoseek inferred chemical compound relationships for SLC4A1 Gene

Compound -log(P) Hits PubMed IDs
h2dids 81.2 2
bicarbonate 80 68
chloride 71.8 31
dids 66.3 8
fluorescein 5-maleimide 65.2 1
genes like me logo Genes that share compounds with SLC4A1: view

Transcripts for SLC4A1 Gene

Unigene Clusters for SLC4A1 Gene

Solute carrier family 4, anion exchanger, member 1 (erythrocyte membrane protein band 3, Diego blood group):
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for SLC4A1

Primer Products

  • OriGene qSTAR qPCR primer pairs in human,mouse,rat for SLC4A1

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for SLC4A1 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21
SP1: -
SP2: -
SP3:

Relevant External Links for SLC4A1 Gene

GeneLoc Exon Structure for
SLC4A1
ECgene alternative splicing isoforms for
SLC4A1

Expression for SLC4A1 Gene

mRNA expression in normal human tissues for SLC4A1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SLC4A1 Gene

This gene is overexpressed in Whole Blood (40.3) and Kidney - Cortex (7.7).

Integrated Proteomics: protein expression from ProteomicsDB and MOPED for SLC4A1 Gene

SOURCE GeneReport for Unigene cluster for SLC4A1 Gene Hs.443948

mRNA Expression by UniProt/SwissProt for SLC4A1 Gene

P02730-B3AT_HUMAN
Tissue specificity: Detected in erythrocytes (at protein level). Erythrocytes.
genes like me logo Genes that share expressions with SLC4A1: view

In Situ Assay Products

Orthologs for SLC4A1 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for SLC4A1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SLC4A1 35
  • 96.27 (n)
  • 94.99 (a)
SLC4A1 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia BKB3 36
  • 76 (a)
OneToOne
SLC4A1 35
  • 82.58 (n)
  • 78.56 (a)
dog
(Canis familiaris)
Mammalia SLC4A1 35
  • 85.97 (n)
  • 85.6 (a)
SLC4A1 36
  • 84 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Slc4a1 35
  • 82.65 (n)
  • 83.17 (a)
Slc4a1 16
Slc4a1 36
  • 81 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia SLC4A1 36
  • 69 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SLC4A1 36
  • 83 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Slc4a1 35
  • 82.87 (n)
  • 82.95 (a)
chicken
(Gallus gallus)
Aves SLC4A1 35
  • 70.04 (n)
  • 66.14 (a)
SLC4A1 36
  • 68 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SLC4A1 36
  • 60 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.13563 35
tropical clawed frog
(Silurana tropicalis)
Amphibia slc4a1 35
  • 65.14 (n)
  • 65.84 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.11550 35
zebrafish
(Danio rerio)
Actinopterygii slc4a1 35
slc4a1a 36
  • 51 (a)
OneToMany
slc4a1b 36
  • 53 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta CG8177 36
  • 31 (a)
OneToMany
CG8177 37
  • 45 (a)
worm
(Caenorhabditis elegans)
Secernentea abts-4 36
  • 24 (a)
OneToMany
R03E9.3 37
  • 24 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes BOR1 36
  • 25 (a)
OneToMany
BOR1 38
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 42 (a)
OneToMany
Species with no ortholog for SLC4A1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for SLC4A1 Gene

ENSEMBL:
Gene Tree for SLC4A1 (if available)
TreeFam:
Gene Tree for SLC4A1 (if available)

Paralogs for SLC4A1 Gene

Paralogs for SLC4A1 Gene

Selected SIMAP similar genes for SLC4A1 Gene using alignment to 4 proteins:

genes like me logo Genes that share paralogs with SLC4A1: view

Variants for SLC4A1 Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for SLC4A1 Gene

P02730-B3AT_HUMAN
Genetic variations in SLC4A1 are involved in resistance to malaria [MIM:611162]

Sequence variations from dbSNP and Humsavar for SLC4A1 Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type MAF
rs5011 -- 44,268,389(-) CATCC(A/C)CAAAG upstream-variant-2KB, intron-variant
rs5012 -- 44,268,171(-) GTCAG(A/G)GGTTT upstream-variant-2KB, intron-variant
rs5013 -- 44,258,576(-) CTGCT(A/G)CACTC synonymous-codon, reference
rs5014 -- 44,258,029(-) ATCTA(C/T)TTTGC reference, synonymous-codon
rs5015 -- 44,258,019(-) CTGCA(C/T)TGTCA reference, synonymous-codon

Structural Variations from Database of Genomic Variants (DGV) for SLC4A1 Gene

Variant ID Type Subtype PubMed ID
nsv833455 CNV Loss 17160897
nsv908270 CNV Loss 21882294
nsv908271 CNV Loss 21882294
nsv510713 CNV Loss 20534489
nsv908275 CNV Loss 21882294

Relevant External Links for SLC4A1 Gene

HapMap Linkage Disequilibrium report
SLC4A1
Human Gene Mutation Database (HGMD)
SLC4A1
Locus Specific Mutation Databases (LSDB)
SLC4A1
Blood Group Antigen Gene Mutation Database (BGMUT)
Blood Group

Disorders for SLC4A1 Gene

(9) OMIM Diseases for SLC4A1 Gene (109270)

UniProtKB/Swiss-Prot

B3AT_HUMAN
  • 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. {ECO:0000269 PubMed:1538405, ECO:0000269 PubMed:1722314}. 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. {ECO:0000269 PubMed:10580570, ECO:0000269 PubMed:10745622, ECO:0000269 PubMed:10942416, ECO:0000269 PubMed:11380459, ECO:0000269 PubMed:1378323, ECO:0000269 PubMed:15813913, ECO:0000269 PubMed:16227998, ECO:0000269 PubMed:7530501, ECO:0000269 PubMed:8547122, ECO:0000269 PubMed:8640229, ECO:0000269 PubMed:8943874, ECO:0000269 PubMed:9012689, ECO:0000269 PubMed:9207478, ECO:0000269 PubMed:9233560, ECO:0000269 PubMed:9973643}. 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. {ECO:0000269 PubMed:10926824, ECO:0000269 PubMed:15211439, ECO:0000269 PubMed:9854053}. 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. {ECO:0000269 PubMed:15211439}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(4) University of Copenhagen DISEASES for SLC4A1 Gene

(31) Novoseek inferred disease relationships for SLC4A1 Gene

Disease -log(P) Hits PubMed IDs
distal renal tubular acidosis 93.8 41
elliptocytosis hereditary 92.8 20
renal tubular acidosis, distal, autosomal dominant 91.7 2
renal tubular acidosis, distal, autosomal recessive 88.7 2
spherocytosis hereditary 88.6 23

Relevant External Links for SLC4A1

Genetic Association Database (GAD)
SLC4A1
Human Genome Epidemiology (HuGE) Navigator
SLC4A1
genes like me logo Genes that share disorders with SLC4A1: view

Publications for SLC4A1 Gene

  1. Familial distal renal tubular acidosis is associated with mutations in the red cell anion exchanger (Band 3, AE1) gene. (PMID: 9312167) Bruce L.J. … Tanner M.J. (J. Clin. Invest. 1997) 3 4 23 48
  2. Novel band 3 variants (bands 3 Foggia, Napoli I and Napoli II) associated with hereditary spherocytosis and band 3 deficiency: status of the D38A polymorphism within the EPB3 locus. (PMID: 9012689) Miraglia del Giudice E. … Alloisio N. (Br. J. Haematol. 1997) 3 4 23
  3. Band 3 Tokyo: Thr837-->Ala837 substitution in erythrocyte band 3 protein associated with spherocytic hemolysis. (PMID: 9973643) Iwase S. … Yamada H. (Acta Haematol. 1998) 3 4 23
  4. Band 3 Tuscaloosa: Pro-327-->Arg substitution in the cytoplasmic domain of erythrocyte band 3 protein associated with spherocytic hemolytic anemia and partial deficiency of protein 4.2. (PMID: 1378323) Jarolim P. … Cohen C.M. (Blood 1992) 3 4 23
  5. Band 3 Chur: a variant associated with band 3-deficient hereditary spherocytosis and substitution in a highly conserved position of transmembrane segment 11. (PMID: 8547122) Maillet P. … Alloisio N. (Br. J. Haematol. 1995) 3 4 23

Products for SLC4A1 Gene

Sources for SLC4A1 Gene

Back to Top

Content