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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

SLC4A1 Gene

protein-coding   GIFtS: 70
GCID: GC17M042337

solute carrier family 4, anion exchanger, member 1 (erythrocyte...

(Previous name: Waldner blood group )
(Previous symbols: EPB3, AE1, DI, WD)
 Explore 60 diseases affiliated with
SLC4A1 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for SLC4A1    

Aliases
for SLC4A1 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Solute Carrier Family 4, Anion Exchanger, Member 1 (Erythrocyte Membrane
Protein Band 3, Diego Blood Group)1 2
     EMPB32
AE11 2 3 5     WD12
EPB31 2 3 5     Anion Exchanger-12
DI1 2 3     Band 3 Anion Transport Protein2
CD2331 2     Erythrocyte Membrane Protein Band 32
FR1 2     Erythroid Anion Exchange Protein2
RTA1A1 2     Froese Blood Group2
SW1 2     Solute Carrier Family 4, Anion Exchanger, Number 12
WD1 2     Swann Blood Group2
WR1 2     Wright Blood Group2
Waldner Blood Group1 2     AE 13
Anion Exchange Protein 12 3     CD233 Antigen3
Anion Exchanger 12 3     Solute Carrier Family 4 Member 13
BND32     

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


Summaries
for SLC4A1 gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
Entrez Gene summary for SLC4A1:
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)

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)


Genomic Views
for SLC4A1 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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000017.10  NC_018928.1  NT_010783.15  
Regulatory elements:
   SABiosciences 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 plasmid: SLC4A1 promoter sequence
   Search SABiosciences Chromatin IP Primers for SLC4A1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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

Proteins
for SLC4A1 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
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, it spans the membrane asymmetrically and appears to be tetrameric. Interacts (via
cytoplasmic N-terminus domain) with ANK1 (via N-terminus ANK repeats)
Subcellular location: Membrane; Multi-pass membrane protein
6/11 PDB 3D structures from and Proteopedia for SLC4A1 (see all 11):
1BH7 (3D)        1BNX (3D)        1BTQ (3D)        1BTR (3D)        1BTS (3D)        1BTT (3D)    
Secondary accessions: P78487 Q1ZZ45 Q4KKW9 Q4VB84 Q9UCY7 Q9UDJ1

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

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
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P02730

    • SLC4A1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_000333.1  
    ENSEMBL proteins: 
     ENSP00000262418  
    Reactome Protein details: P02730
    Human Recombinant Protein Products: 
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    Novus Biologicals SLC4A1 Proteins
    Novus Biologicals SLC4A1 Lysates
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    Browse ProSpec Recombinant Proteins
    Uscn Proteins for SLC4A1

    Gene Ontology (GO): 5/7 cellular component terms (GO ID links to tree view) (see all 7):    About this table

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


    SLC4A1 for ontologies           About GeneDecksing



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    ThermoFisher Antibodies for SLC4A1

    Assay Products for SLC4A1: 
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    Uscn ELISAs and CLIAs for SLC4A1

    Protein Domains /
    Families
    for SLC4A1 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    SLC4A1 for domains           About GeneDecksing

    5/7 InterPro domains/families (see all 7):
     IPR001717 Anion_exchange
     IPR011531 HCO3_transpt_C
     IPR003020 HCO3_transpt_euk
     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 families:
    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


    Function
    for SLC4A1 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         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
    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

    miRNA
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    8/15 QIAGEN miScript miRNA 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 plasmid: SLC4A1 3' UTR sequence
    Inhib. RNA
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    Gene Editing
    Products:    		DNA2.0 Custom Protein Engineering Service for SLC4A1

    Clone
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SLC4A1 

    Cell Line
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    Search LifeMap BioReagents cell lines for SLC4A1

    In Situ Assay
    Products:       
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SLC4A1

    Gene Ontology (GO): 5/10 molecular function terms (GO ID links to tree view) (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003779actin binding IEA--
    GO:0005452inorganic anion exchanger activity TAS--
    GO:0005515protein binding IPI16669616
    GO:0008022protein C-terminus binding IEA--
    GO:0008509anion transmembrane transporter activity TAS4027230


    SLC4A1 for ontologies           About GeneDecksing


    1 GenomeRNAi human phenotype for SLC4A1:
     Increased Salmonella enterica  

    Animal Models:
         Mouse knock-outs for SLC4A1: Slc4a1tm1Llp Slc4a1tm1Phsl Slc4a1tm1Ahc
         10 MGI mutant phenotypes (inferred from 6 alleles) (MGI details for Slc4a1):
     cardiovascular system  cellular  growth/size  hematopoietic system  homeostasis/metabolism 
     immune system  integument  mortality/aging  muscle  renal/urinary system 

    SLC4A1 for phenotypes           About GeneDecksing


    Pathways & Interactions
    for SLC4A1 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/6 super-pathways (see all 6) About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1O2/CO2 exchange in erythrocytes
    		O2/CO2 exchange in erythrocytes1.00
    		Uptake of Carbon Dioxide and Release of Oxygen by Erythrocytes1.00
    		Uptake of Oxygen and Release of Carbon Dioxide by Erythrocytes1.00
    2SLC-mediated transmembrane transport
    		SLC-mediated transmembrane transport1.00
    		Transmembrane transport of small molecules0.50
    3Bicarbonate transporters
    		Bicarbonate transporters1.00
    4Metabolism
    		Metabolism1.00
    5Insulin receptor recycling
    		Collecting duct acid secretion0.68

    Pathway sources
    See GeneCards unified pathways
    Show all pathways


    5/8        Reactome Pathways for SLC4A1 (see all 8)
        Uptake of Carbon Dioxide and Release of Oxygen by Erythrocytes
    Transmembrane transport of small molecules
    SLC-mediated transmembrane transport
    Bicarbonate transporters
    Metabolism


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


    SLC4A1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for SLC4A1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 16)

    5/18 Interacting proteins for SLC4A1 (P027302, 3 ENSP000002624184) via UniProtKB, MINT, STRING, and/or I2D (see all 18)
    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): 5/7 biological process terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006811ion transport TAS--
    GO:0006820anion transport IDA14734552
    GO:0006821chloride transport ISS--
    GO:0006873cellular ion homeostasis TAS8841202
    GO:0015701bicarbonate transport TAS--


    SLC4A1 for ontologies           About GeneDecksing



    Drugs & Compounds
    for SLC4A1 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    SLC4A1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for SLC4A1
    10/34 Novoseek 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)

    Search CenterWatch for drugs/clinical trials and news about SLC4A1 / B3AT 

    Transcripts
    for SLC4A1 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    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

    miRNA
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    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
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    Inhib. RNA
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    Additional cDNA 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 

    24/94 AceView cDNA sequences (see all 94):

    AA877113 CD608197 AI311647 AA699556 X12609 AI207465 H49711 CR599802 
    S68680 AI241381 AL597709 AI056077 C02408 AA033839 AL532146 AA302956 
    AJ710151 CA427937 BX431851 BX431926 AI470773 BG942026 AA677171 AI061580 

    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

    Expression
    for SLC4A1 gene

    (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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    SLC4A1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GCCAAGGAAA

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    SLC4A1 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    4 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    KidneyRenal Collecting Duct SystemType A CellsKidney
    BoneMaxillary ProcessBone
    KidneyRenal VesicleKidney
    KidneyS-shaped BodyKidney
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See SLC4A1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SLC4A1

    SOURCE GeneReport for Unigene cluster: Hs.443948

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

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    Orthologs
    for SLC4A1 gene

    (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)
    About This Section
    This gene was present in the common ancestor of eukaryotes.

    Orthologs for SLC4A1 gene from 8/28 species (see all 28)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    lizard
    (Anolis carolinensis)    		 Reptilia SLC4A16
    		 --
    		 65(a)
    		 1 ↔ 1
    		 6(66792288-66821161)
    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
    BOR11    		 Boron efflux transporter of the plasma membrane; binds more4
    Bor1p1    		 40.55(n)1
    26.6(a)1    		   14(119268-120998)4
    8554461, 4  NP_014124.11, 4 
    thale cress
    (Arabidopsis thaliana)    		 eudicotyledons BOR51 putative boron transporter 5 43.17(n)
    31.42(a)    		   843820  NM_106139.2  NP_177619.2 
    rice
    (Oryza sativa)    		 Liliopsida Os01g01756001 hypothetical protein 43.55(n)
    31.48(a)    		   4326215  NM_001048709.1  NP_001042174.2 


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

    Paralogs
    for SLC4A1 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for SLC4A1 gene
    SLC4A42  SLC4A102  SLC4A72  SLC4A112  SLC4A52  SLC4A82  SLC4A22  SLC4A92  
    SLC4A32  
    13 SIMAP similar genes for SLC4A1 using alignment to 5 protein entries:     B3AT_HUMAN (see all proteins):
    AE1    EPB3    SLC4A2    AE    SLC4A3    DKFZp781H1314
    NBC    SLC4A4    SLC4A10    SLC4A8    SLC4A5    SLC4A9
    SLC4A7

    SLC4A1 for paralogs           About GeneDecksing



    Genomic Variants
    for SLC4A1 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    UniProtKB/Swiss-Prot: B3AT_HUMAN, P02730
    Polymorphism: 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
    Polymorphism: 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
    Polymorphism: 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
    Polymorphism: Genetic variations in SLC4A1 are involved in resistance to malaria [MIM:611162]


    10/1446 NCBI SNPs in SLC4A1 are shown (see all 1446)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 17 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs455620311,2
    		C,F,pathogenic40494307(+) TGCCTC/TGGTGT 2 K E mis13Minor allele frequency- T:0.01NA EU 5875
    rs50361,2
    		C,F,H,pathogenic40494355(-) CCCACA/GAGGTG 2 K E mis1 ese326Minor allele frequency- G:0.06MN EA NS NA CSA WA EU 9001
    rs1219127491,2
    		Cpathogenic40495431(-) TGGCTA/GGAGTG 2 R G mis10--------
    rs563611401,2
    		C,pathogenic40495491(-) AGGACA/C/G/T 
                GAGAG     		4 R G * syn1 mis1 stg11NA 4464
    rs1219127451,2
    		Cpathogenic40500224(-) TGCTGA/C/TGCAAG 3 S R C mis10--------
    rs757316701,2
    		C,pathogenic40501351(+) AAACTC/TGGAAC 2 K E mis10--------
    rs1219127481,2
    		C,pathogenic40502604(-) CTCCGA/GCTTCC 2 D G mis10--------
    rs22856441,2
    		C,F,H,pathogenic40504679(-) CACGCC/TGGCCT 2 P L mis1 ese39Minor allele frequency- T:0.01EA NS NA EU 8051
    rs1219127591,2
    		C,Fpathogenic40504721(-) TGTGCC/TGCTGC 2 P L mis12Minor allele frequency- T:0.00NA EU 4975
    rs289315851,2
    		Cpathogenic40504726(-) CGCTGC/TGGCGC 2 R W mis1 ese32Minor allele frequency- T:0.00NA 4

    HapMap Linkage Disequilibrium report for SLC4A1 (42325753 - 42345509 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for SLC4A1
         1 CNV: 5008
    Human Gene Mutation Database (HGMD): SLC4A1

    Locus Specific Mutation Databases (LSDB): SLC4A1
    Blood Group Antigen Gene Mutation Database (BGMUT) blood group system

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    Disorders / Diseases
    for SLC4A1 gene

    (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.)
    About This Section
    SLC4A1 for disorders           About GeneDecksing

    OMIM gene information: 109270   
    OMIM disorders: 612653  611162  179800  611590  110500  112010  112050  601551  601550  
    UniProtKB/Swiss-Prot: B3AT_HUMAN, P02730
  • 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

    20/60 diseases for SLC4A1 (see all 60):    About MalaCards
    renal tubular acidosis    renal tubular acidosis, distal    spherocytosis    hereditary spherocytosis
    renal tubular acidosis, distal, ar    renal tubular acidosis, distal, ad    renal tubular acidosis, distal, autosomal dominant    renal tubular acidosis, distal, autosomal recessive
    plasmodium falciparum malaria    nephrocalcinosis    malaria    cor pulmonale
    anemia    spherocytosis, type 4    rift valley fever    fibrous histiocytoma
    elliptocytosis    malignant fibrous histiocytoma    respiratory failure    swine influenza

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

    10/31 Novoseek 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

    Publications
    for SLC4A1 gene

    (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)
    About This Section

    PubMed articles for SLC4A1 gene, integrated from 9 sources (see all 382):
    (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. (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. (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. (2006)
    4. 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. (2004)
    5. 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. (2000)
    6. 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....Saad S.T. (2005)
    7. A novel missense mutation in AE1 causing autosomal dominant distal renal tubular acidosis retains normal transport function but is mistargeted in polarized epithelial cells. (PubMed id 14734552)1, 2, 9 Rungroj N.... Karet F.E. (2004)
    8. Band 3 mutations, renal tubular acidosis and South-East Asian ovalocytosis in Malaysia and Papua New Guinea: loss of up to 95% band 3 transport in red cells. (PubMed id 10926824)1, 2, 9 Bruce L.J.... Tanner M.J.A. (2000)
    9. Band 3 Tokyo: Thr837-->Ala837 substitution in erythrocyte band 3 protein associated with spherocytic hemolysis. (PubMed id 9973643)1, 2, 9 Iwase S.... Yamada H. (1998)
    10. 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. (PubMed id 9012689)1, 2, 9 Miraglia del Giudice E.... Alloisio N. (1997)

    External Searches for SLC4A1 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  
      Query String
    		PubMed
    OMIM
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      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing SLC4A1 gene

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

    Other Databases showing SLC4A1 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing SLC4A1 gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    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/sites/GeneTests/lab/gene/SLC4A1
    SeattleSNPshttp://pga.gs.washington.edu/data/slc4a1/

    Intellectual Property
    for SLC4A1 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		Patent Information for SLC4A1 gene:
    Search GeneIP for patents involving SLC4A1

    GeneCards and IP:
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