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SLC4A1 Gene

protein-coding   GIFtS: 70
GCID: GC17M042337

Solute Carrier Family 4 (Anion Exchanger), Member 1 (Diego...

(Previous names: Waldner blood group, erythrocyte membrane protein band 3,...)
(Previous symbols: EPB3, AE1, DI, WD)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Solute Carrier Family 4 (Anion Exchanger), Member 1 (Diego Blood
Group)1 2
     BND32
AE11 2 3 5     CD2332
EPB31 2 3 5     EMPB32
DI1 2 3     FR2
WD1 2     RTA1A2
Diego Blood Group1 2     SW2
Erythrocyte Membrane Protein Band 31 2     WD12
Solute Carrier Family 4, Anion Exchanger, Member 1 (Erythrocyte Membrane
Protein Band 3, Diego Blood Group)1 2
     WR2
Waldner Blood Group1 2     Anion Exchanger-12
Froese Blood Group1 2     Band 3 Anion Transport Protein2
Swann Blood Group1 2     Erythroid Anion Exchange Protein2
Wright Blood Group1 2     Solute Carrier Family 4, Anion Exchanger, Number 12
Anion Exchange Protein 12 3     AE 13
Anion Exchanger 12 3     CD233 Antigen3
Solute Carrier Family 4 (Anion Exchanger), Member 11     Solute Carrier Family 4 Member 13

External Ids:    HGNC: 110271   Entrez Gene: 65212   Ensembl: ENSG000000049397   OMIM: 1092705   UniProtKB: P027303   

Export aliases for SLC4A1 gene to outside databases

Previous GC identifers: GC17M042068 GC17M044504 GC17M042802 GC17M039683 GC17M038089


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 renal tubular acidosis, distal, and renal tubular acidosis, distal, autosomal dominant. GO annotations related to this gene include protein C-terminus binding and protein homodimerization activity. An important paralog of this gene is SLC4A10.

UniProtKB/Swiss-Prot: B3AT_HUMAN, P02730
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

Gene Wiki entry for SLC4A1 (Band 3) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000017.11  NT_010783.16  NC_018928.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the SLC4A1 gene promoter:
         AREB6   AP-1   ATF-2   c-Jun   NF-kappaB1   NF-kappaB   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSLC4A1 promoter sequence
   Search Chromatin IP Primers for SLC4A1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat SLC4A1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 17q21.31   Ensembl cytogenetic band:  17q21.31   HGNC cytogenetic band: 17q21.31

SLC4A1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SLC4A1 gene location

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17M042337:  view genomic region     (about GC identifiers)

Start:
42,325,753 bp from pter      End:
42,345,509 bp from pter
Size:
19,757 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: B3AT_HUMAN, P02730 (See protein sequence)
Recommended Name: Band 3 anion transport protein  
Size: 911 amino acids; 101792 Da
Subunit: A dimer in solution, in its membrane environment, it exists primarily as a mixture of dimers and
tetramers and spans the membrane asymmetrically. Interacts (via cytoplasmic N-terminus domain) with ANK1 (via
N-terminus ANK repeats), tetramer formation is critical for ankyrin association
Selected PDB 3D structures from and Proteopedia for SLC4A1 (see all 12):
1BH7 (3D)        1BNX (3D)        1BTQ (3D)        1BTR (3D)        1BTS (3D)        1BTT (3D)    
Secondary accessions: G4V2I6 P78487 Q1ZZ45 Q4KKW9 Q4VB84 Q9UCY7 Q9UDJ1

Explore the universe of human proteins at neXtProt for SLC4A1: NX_P02730

Explore proteomics data for SLC4A1 at MOPED

Post-translational modifications: 

  • Phosphorylated on Tyr-8 and Tyr-21 most likely by SYK. PP1-resistant phosphorylation that precedes Tyr-359 and
    Tyr-904 phosphorylation1
  • Phosphorylated on Tyr-359 and Tyr-904 most likely by LYN. PP1-inhibited phosphorylation that follows Tyr-8 and
    Tyr-21 phosphorylation1
  • Glycosylation2 at Asn642
  • Modification sites at PhosphoSitePlus

  • See SLC4A1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_000333.1  
    ENSEMBL proteins: 
     ENSP00000262418  
    Reactome Protein details: P02730

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    CD: CD molecules
    bloodgroup: Blood group antigens
    SLC: Solute carriers

    IUPHAR Guide to PHARMACOLOGY protein family classification: Anion exchange protein 1
    Anion exchangers

    Selected InterPro protein domains (see all 7):
     IPR001717 Anion_exchange
     IPR003020 HCO3_transpt_euk
     IPR011531 HCO3_transpt_C
     IPR016152 PTrfase/Anion_transptr
     IPR018241 Anion_exchange_CS

    Graphical View of Domain Structure for InterPro Entry P02730

    ProtoNet protein and cluster: P02730

    3 Blocks protein domains:
    IPB001717 Anion exchange protein
    IPB002977 Anion exchanger isoform 1 signature
    IPB013769 HCO3- transporter


    UniProtKB/Swiss-Prot: B3AT_HUMAN, P02730
    Similarity: Belongs to the anion exchanger (TC 2.A.31) family


    SLC4A1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: B3AT_HUMAN, P02730
    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
    Enzyme regulation: Phenyl isothiocyanate inhibits anion transport in vitro

         Genatlas biochemistry entry for SLC4A1:
    solute carrier protein 4 (chloride-bicarbonate,anion exchange across the basolateral surface),member 1,expressed
    in erythrocyte and kidney distal collecting tubule

         Gene Ontology (GO): Selected molecular function terms (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003779actin binding IEA--
    GO:0005215transporter activity ----
    GO:0005452inorganic anion exchanger activity TAS--
    GO:0005515protein binding IPI16669616
    GO:0008022protein C-terminus binding IEA--
         
    SLC4A1 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for SLC4A1:
     Increased Salmonella enterica  

         10 MGI mutant phenotypes (inferred from 6 alleles(MGI details for Slc4a1):
     cardiovascular system  cellular  growth/size/body  hematopoietic system  homeostasis/metabolism 
     immune system  integument  mortality/aging  muscle  renal/urinary system 

    SLC4A1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for SLC4A1: Slc4a1tm1Llp Slc4a1tm1Phsl Slc4a1tm1Ahc

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for SLC4A1
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for SLC4A1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for SLC4A1

    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate SLC4A1 (see all 15):
    hsa-miR-4264 hsa-miR-4271 hsa-miR-520d-5p hsa-miR-133b hsa-miR-759 hsa-miR-500a hsa-miR-1305 hsa-miR-182
    SwitchGear 3'UTR luciferase reporter plasmidSLC4A1 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat SLC4A1

    Gene Editing
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SLC4A1


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    B3AT_HUMAN, P02730: Membrane; Multi-pass membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytoskeleton5
    plasma membrane5
    cytosol1
    endoplasmic reticulum1
    extracellular1
    nucleus1
    peroxisome1

    Gene Ontology (GO): Selected cellular component terms (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005886plasma membrane TAS--
    GO:0005887integral component of plasma membrane IDA379653
    GO:0016020membrane ----
    GO:0016021integral component of membrane NAS1527044
    GO:0016323basolateral plasma membrane IDA12539048

    SLC4A1 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for SLC4A1 About    
    See pathways by source

    SuperPathContained pathways About
    1Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds
    SLC-mediated transmembrane transport0.47
    Transport of inorganic cations/anions and amino acids/oligopeptides0.38
    Transmembrane transport of small molecules0.47
    Bicarbonate transporters0.00
    2O2/CO2 exchange in erythrocytes
    O2/CO2 exchange in erythrocytes
    Uptake of Carbon Dioxide and Release of Oxygen by Erythrocytes0.00
    Uptake of Oxygen and Release of Carbon Dioxide by Erythrocytes0.00
    3Insulin receptor recycling
    Collecting duct acid secretion0.66
    4Metabolism
    Metabolism0.38

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways



    3 Reactome Pathways for SLC4A1
        Erythrocytes take up carbon dioxide and release oxygen
    Bicarbonate transporters
    Erythrocytes take up oxygen and release carbon dioxide


    1 Kegg Pathway  (Kegg details for SLC4A1):
        Collecting duct acid secretion


    SLC4A1 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for SLC4A1
    Interactions:

        GeneGlobe Interaction Network for SLC4A1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 21)

    Selected Interacting proteins for SLC4A1 (P027302, 3 ENSP000002624184) via UniProtKB, MINT, STRING, and/or I2D (see all 23)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CDKN2AP427712, 3, ENSP000003551534MINT-58445 I2D: score=1 STRING: ENSP00000355153
    PTPN11Q061242, 3, ENSP000003409444MINT-8032044 I2D: score=1 STRING: ENSP00000340944
    PTPN1P180312, 3, ENSP000003606834MINT-6793324 MINT-6793315 I2D: score=1 STRING: ENSP00000360683
    ANK1P161573, ENSP000002657094I2D: score=3 STRING: ENSP00000265709
    CA2P009183, ENSP000002853794I2D: score=3 STRING: ENSP00000285379
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006810transport ----
    GO:0006811ion transport TAS--
    GO:0006820anion transport IDA14734552
    GO:0006821chloride transport ISS--
    GO:0006873cellular ion homeostasis TAS8841202

    SLC4A1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for SLC4A1 (B3AT)

    Selected Novoseek inferred chemical compound relationships for SLC4A1 gene (see all 34)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    h2dids 81.2 2 10353715 (1), 15653731 (1)
    bicarbonate 80 105 12933803 (8), 15499994 (3), 15044489 (3), 8238316 (2) (see all 48)
    chloride 71.8 46 1403671 (2), 16508976 (2), 8188169 (1), 16096263 (1) (see all 29)
    dids 66.3 13 10460174 (3), 14737025 (2), 12561250 (1), 18329299 (1) (see all 5)
    fluorescein 5-maleimide 65.2 2 15379532 (1)
    sulfate 52.8 10 7499397 (2), 8238316 (1), 7721750 (1), 7744759 (1) (see all 5)
    maleimide 43.8 3 11672441 (2), 8639645 (1)
    iodoacetamide 36.6 1 10037758 (1)
    glyceraldehyde 3-phosphate 32.8 4 11890743 (1), 8962925 (1), 14570914 (1)
    furosemide 27.2 2 8762500 (2)



    SLC4A1 for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for SLC4A1 gene: 
    NM_000342.3  

    Unigene Cluster for SLC4A1:

    Solute carrier family 4, anion exchanger, member 1 (erythrocyte membrane protein band 3, Diego blood group)
    Hs.443948  [show with all ESTs]
    Unigene Representative Sequence: NM_000342
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000262418(uc021tyc.1 uc002igf.4) ENST00000497360 ENST00000471005
    ENST00000498270
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    Additional mRNA sequence: 

    AB526447.1 AM919470.1 BC096106.3 BC096107.3 BC099628.3 BC099629.3 BC101570.1 BC101574.1 
    M27819.1 S68680.1 X12609.1 X77737.1 

    6 DOTS entries:

    DT.91660672  DT.115918  DT.447791  DT.86995892  DT.100743514  DT.115919 

    Selected AceView cDNA sequences (see all 94):

    X12609 AA699556 CD608197 CR599802 S68680 AI311647 AA877113 H49711 
    AI207465 AI241381 AL597683 AL597201 W52691 AL532146 BX443989 AA677171 
    BX445352 BX422204 AL597709 AA033839 AA007636 AW468048 BX093988 BG942026 

    GeneLoc Exon Structure

    3 Alternative Splicing Database (ASD) splice patterns (SP) for SLC4A1    About this scheme

    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:                                                                                                                                    


    ECgene alternative splicing isoforms for SLC4A1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    SLC4A1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GCCAAGGAAA
    SLC4A1 Expression
    About this image


    SLC4A1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 14) fully expand
     
     Bone (Muscoskeletal System)    fully expand to see all 2 entries
             Prechondrocytic Mesenchymal Cells Zeugopod
             Bone Marrow
     
     Kidney (Urinary System)    fully expand to see all 2 entries
             Type A Cells Renal Collecting Duct System
             S-shaped Body
     
     Skeletal Muscle (Muscoskeletal System)    fully expand to see all 2 entries
             Muscle Progenitor Cells Mandibular Arch Muscles
     
     Epithelial Cells
             Type A Cells Renal Collecting Duct System
     
     Gonad
             Primordial Germ Cells Allantois
    SLC4A1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SLC4A1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.443948

    UniProtKB/Swiss-Prot: B3AT_HUMAN, P02730
    Tissue specificity: Erythrocytes

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals and fungi.

    Orthologs for SLC4A1 gene from Selected species (see all 17)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Slc4a11 , 5 solute carrier family 4 (anion exchanger), member 11, 5 82.65(n)1
    83.17(a)1
      11 (66.29 cM)5
    205331  NM_011403.21  NP_035533.11 
     1023488245 
    chicken
    (Gallus gallus)
    Aves SLC4A11 solute carrier family 4, anion exchanger, member 1 70.04(n)
    66.14(a)
      396532  NM_205522.1  NP_990853.1 
    lizard
    (Anolis carolinensis)
    Reptilia SLC4A16
    solute carrier family 4 (anion exchanger), member ...
    60(a)
    1 ↔ 1
    6(66792162-66846551)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.135632 Xenopus laevis transcribed sequence with moderate similarity more 77.16(n)    BJ035747.1 
    zebrafish
    (Danio rerio)
    Actinopterygii slc4a12 solute carrier family 4, anion exchanger, member 1 76.11(n)   84703  AF350072.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG81773 anion exchanger 45(a)     --
    worm
    (Caenorhabditis elegans)
    Secernentea R03E9.33 anion exchange protein 24(a)   X(6782894-6795730)   --
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes BOR1(YNL275W)4 Boron efflux transporter of the plasma membrane; binds more   --   14(119268-120998) 855446  NP_014124.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for SLC4A1 gene
    SLC4A102  SLC4A72  SLC4A42  SLC4A112  SLC4A52  SLC4A82  SLC4A22  SLC4A92  
    SLC4A32  
    13 SIMAP similar genes for SLC4A1 using alignment to 4 protein entries:     B3AT_HUMAN (see all proteins):
    AE1    EPB3    SLC4A2    AE    SLC4A3    DKFZp781H1314
    NBC    SLC4A4    SLC4A8    SLC4A10    SLC4A5    SLC4A9
    SLC4A7

    SLC4A1 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Polymorphic Variants from UniProtKB/Swiss-Prot
    B3AT_HUMAN, P02730: 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
    B3AT_HUMAN, P02730: 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
    B3AT_HUMAN, P02730: 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
    B3AT_HUMAN, P02730: Genetic variations in SLC4A1 are involved in resistance to malaria [MIM:611162]


    Selected SNPs for SLC4A1 (see all 1694)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 17 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs289315851,2,,4
    CSpherocytosis 4 (SPH4)4 pathogenic143118525(-) CGCTGC/TGGCGC 2 R W mis1 ese30--------
    rs1219127481,2,,4
    CRenal tubular acidosis, distal, with hemolytic anemia (dRTA-HA)4 pathogenic143120646(-) CTCCGA/GCTTCC 2 D G mis10--------
    rs289315841,2,,4
    CSpherocytosis 4 (SPH4)4 pathogenic143124832(-) ACATCA/GTGGGC 2 M V mis10--------
    rs289315831,2,,4
    C,FSpherocytosis 4 (SPH4)4 pathogenic143125838(-) TGCCCC/GCTCCG 2 P R mis11Minor allele frequency- G:0.00NA 4534
    rs289294801,2,,4
    CSpherocytosis 4 (SPH4)4 pathogenic143128034(-) TGGGGA/GAGAAT 2 K E mis10--------
    VAR_0138054
    Spherocytosis 4 (SPH4)4--see VAR_0138052 G R mis40--------
    VAR_0138084
    Spherocytosis 4 (SPH4)4--see VAR_0138082 G D mis40--------
    VAR_0580394
    Spherocytosis 4 (SPH4)4--see VAR_0580392 R H mis40--------
    VAR_0137924
    Spherocytosis 4 (SPH4)4--see VAR_0137922 R C mis40--------
    VAR_0138144
    Spherocytosis 4 (SPH4)4--see VAR_0138142 T M mis40--------

    HapMap Linkage Disequilibrium report for SLC4A1 (42325753 - 42345509 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 5 variations for SLC4A1:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv908275CNV Loss21882294
    nsv510713CNV Loss20534489
    nsv833455CNV Loss17160897
    nsv908270CNV Loss21882294
    nsv908271CNV Loss21882294

    Human Gene Mutation Database (HGMD): SLC4A1
    Locus Specific Mutation Databases (LSDB): SLC4A1

    Blood Group Antigen Gene Mutation Database (BGMUT) blood group system
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing SLC4A1
    DNA2.0 Custom Variant and Variant Library Synthesis for SLC4A1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 109270   
    OMIM disorders: 612653  611162  179800  611590  110500  112010  112050  601551  601550  
    UniProtKB/Swiss-Prot: B3AT_HUMAN, P02730
  • 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

  • Selected diseases for SLC4A1 (see all 62):    
    About MalaCards
    renal tubular acidosis, distal    renal tubular acidosis, distal, autosomal dominant    hemolytic anemia due to band 3 montefiore    ovalocytosis, southeast asian
    renal tubular acidosis, distal, ad    spherocytosis, type 4    renal tubular acidosis, distal, ar    renal tubular acidosis, distal, with hemolytic anemia
    hereditary elliptocytosis    slc4a1-related spherocytosis    renal tubular acidosis    hereditary spherocytosis
    nephrocalcinosis    elliptocytosis 2    plasmodium falciparum malaria    renal tubular acidosis, distal, autosomal recessive
    swine influenza    priapism    spherocytosis, hereditary, type 5    cor pulmonale

    4 diseases from the University of Copenhagen DISEASES database for SLC4A1:
    Hereditary elliptocytosis     Renal tubular acidosis     Anemia     Malaria

    SLC4A1 for disorders           About GeneDecksing

    Selected Novoseek inferred disease relationships for SLC4A1 gene (see all 31)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    distal renal tubular acidosis 93.8 55 19625994 (4), 12750988 (2), 16252102 (2), 17409310 (2) (see all 30)
    elliptocytosis hereditary 92.8 25 17941824 (2), 16096263 (1), 20068363 (1), 8025294 (1) (see all 19)
    renal tubular acidosis, distal, autosomal dominant 91.7 2 10352215 (1), 9497368 (1)
    renal tubular acidosis, distal, autosomal recessive 88.7 3 12938018 (1), 15211439 (1)
    spherocytosis hereditary 88.6 28 19625994 (3), 9326249 (2), 9266920 (2), 16617750 (1) (see all 19)
    stomatocytosis 75.8 2 16531080 (1)
    spherocytosis 75.3 2 9854053 (1), 20028337 (1)
    acidosis renal tubular 74.6 4 20068363 (1), 9312167 (1), 9854053 (1)
    anemia hemolytic 65.7 8 11208088 (1), 9854053 (1), 17554061 (1), 9306337 (1) (see all 8)
    nephrocalcinosis 59.3 1 14654610 (1)

    Genetic Association Database (GAD): SLC4A1
    Human Genome Epidemiology (HuGE) Navigator: SLC4A1 (16 documents)

    Export disorders for SLC4A1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for SLC4A1 gene, integrated from 10 sources (see all 394):
    (articles sorted by number of sources associating them with SLC4A1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Familial distal renal tubular acidosis is associated with mutations in the red cell anion exchanger (Band 3, AE1) gene. (PubMed id 9312167)1, 2, 4, 9 Bruce L.J.... Tanner M.J. (J. Clin. Invest. 1997)
    2. Novel AE1 mutations in recessive distal renal tubular acidosis: loss- of-function is rescued by glycophorin A. (PubMed id 9854053)1, 2, 9 Tanphaichitr V.S.... Alper S.L. (J. Clin. Invest. 1998)
    3. Recessive distal renal tubular acidosis in Sarawak caused by AE1 mutations. (PubMed id 16252102)1, 2, 9 Choo K.E....Wrong O.M. (Pediatr. Nephrol. 2006)
    4. Promoter polymorphism of the anion-exchange protein 1 associated with severe malarial anemia and fatality. (PubMed id 16960783)1, 4, 9 von Kalckreuth V....May J. (J. Infect. Dis. 2006)
    5. Novel compound heterozygous SLC4A1 mutations in Thai patients with autosomal recessive distal renal tubular acidosis. (PubMed id 15211439)1, 2, 9 Sritippayawan S.... Yenchitsomanus P.T. (Am. J. Kidney Dis. 2004)
    6. Rapid detection of solute carrier family 4, member 1 (SLC4A1) mutations and polymorphisms by high-resolution melting analysis. (PubMed id 20035734)1, 4, 9 Nettuwakul C....Yenchitsomanus P.T. (Clin. Biochem. 2010)
    7. Molecular population genetics of SLC4A1 and Southeast Asian ovalocytosis. (PubMed id 19229254)1, 4, 9 Wilder J.A....Sudoyo H. (J. Hum. Genet. 2009)
    8. Trafficking and folding defects in hereditary spherocytosis mutants of the human red cell anion exchanger. (PubMed id 11208088)1, 2, 9 Quilty J.A. and Reithmeier R.A. (Traffic 2000)
    9. [Polymorphism analysis of G199A, Ncol in ANK1 and Memphis I in SLC4A1 genes in Mexican healthy individuals and subjects affected with hereditary spherocytosis]. (PubMed id 17128827)1, 4, 9 Camacho-Torres A.L....Perea-DA-az F.J. (Gac Med Mex 2006)
    10. Band 3Tambau: a de novo mutation in the AE1 gene associated with hereditary spherocytosis. Implications for anion exchange and insertion into the red blood cell membrane. (PubMed id 15813913)1, 2, 9 Lima P.R.M.... Saad S.T.O. (Eur. J. Haematol. 2005)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 6521 HGNC: 11027 AceView: SLC4A1 Ensembl:ENSG00000004939 euGenes: HUgn6521
    ECgene: SLC4A1 Kegg: 6521 H-InvDB: SLC4A1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for SLC4A1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for SLC4A1 Genetics and Cytogenetics in Oncology and Haematology
    Wikipedia http://en.wikipedia.org/wiki/Band_3
    dbRBC/BGMUThttp://www.ncbi.nlm.nih.gov/gv/mhc/xslcgi.cgi?cmd=bgmut/systems_info&system=diego
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=SLC4A1[genesymbol]
    SeattleSNPshttp://pga.gs.washington.edu/data/slc4a1/

    (Patent information from GeneIP,
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    Patent Information for SLC4A1 gene:
    Search GeneIP for patents involving SLC4A1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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