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    SLC4A1 solute carrier family 4 member 1 (Diego blood group) [ Homo sapiens (human) ]

    Gene ID: 6521, updated on 2-Sep-2018

    Summary

    Official Symbol
    SLC4A1provided by HGNC
    Official Full Name
    solute carrier family 4 member 1 (Diego blood group)provided by HGNC
    Primary source
    HGNC:HGNC:11027
    See related
    Ensembl:ENSG00000004939 MIM:109270; Vega:OTTHUMG00000156843
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    DI; FR; SW; WD; WR; AE1; CHC; SAO; WD1; BND3; EPB3; SPH4; CD233; EMPB3; RTA1A
    Summary
    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]
    Expression
    Restricted expression toward bone marrow (RPKM 157.0) See more
    Orthologs

    Genomic context

    See SLC4A1 in Genome Data Viewer
    Location:
    17q21.31
    Exon count:
    21
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 17 NC_000017.11 (44248390..44268161, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (42325758..42351654, complement)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC101926967 Neighboring gene microRNA 6782 Neighboring gene upstream binding transcription factor Neighboring gene SHC adaptor protein 1 pseudogene 2 Neighboring gene uncharacterized LOC105371790 Neighboring gene RNA, 7SL, cytoplasmic 507, pseudogene

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Jun 15 11:32:44 2016

    Bibliography

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    BLOOD GROUP--DIEGO SYSTEM
    MedGen: C0011848 OMIM: 110500 GeneReviews: Not available
    Compare labs
    BLOOD GROUP--FROESE
    MedGen: C1832168 OMIM: 601551 GeneReviews: Not available
    Compare labs
    BLOOD GROUP--SWANN SYSTEM
    MedGen: C1832169 OMIM: 601550 GeneReviews: Not available
    Compare labs
    BLOOD GROUP--WALDNER TYPE
    MedGen: C1862191 OMIM: 112010 GeneReviews: Not available
    Compare labs
    BLOOD GROUP--WRIGHT ANTIGEN
    MedGen: C1862190 OMIM: 112050 GeneReviews: Not available
    Compare labs
    Ovalocytosis, southeast asian
    MedGen: C1833690 OMIM: 166900 GeneReviews: Not available
    Compare labs
    Pseudohyperkalemia Cardiff
    MedGen: C1861453 OMIM: 185020 GeneReviews: Not available
    Compare labs
    Renal tubular acidosis, distal, autosomal dominant
    MedGen: C0259810 OMIM: 179800 GeneReviews: Not available
    Compare labs
    Renal tubular acidosis, distal, with hemolytic anemia
    MedGen: C1969038 OMIM: 611590 GeneReviews: Not available
    Compare labs
    Spherocytosis type 4
    MedGen: C2675212 OMIM: 612653 GeneReviews: Not available
    Compare labs
    Susceptibility to malaria
    MedGen: C1970028 OMIM: 611162 GeneReviews: Not available
    Compare labs

    NHGRI GWAS Catalog

    Description
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    NHGRI GWA Catalog

    HIV-1 interactions

    Replication interactions

    Interaction Pubs
    Knockdown of solute carrier family 4, anion exchanger, member 1 (erythrocyte membrane protein band 3, Diego blood group; SLC4A1) by shRNA library screening inhibits HIV-1 replication in cultured Jurkat T-cells PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from BioSystems

    • Bicarbonate transporters, organism-specific biosystem (from REACTOME)
      Bicarbonate transporters, organism-specific biosystemRespiratory oxidation in the mitochondria produces carbon dioxide (CO2) as a waste product. CO2 is in equilibrium with bicarbonate (HCO3-) and is the body's central pH buffering system. HCO3- is char...
    • Collecting duct acid secretion, organism-specific biosystem (from KEGG)
      Collecting duct acid secretion, organism-specific biosystemOne of the important roles of the collecting duct segment of the kidney nephron is acid secretion. As daily food intake loads acid into the body, urinary acid excretion is essential, and urine pH can...
    • Collecting duct acid secretion, conserved biosystem (from KEGG)
      Collecting duct acid secretion, conserved biosystemOne of the important roles of the collecting duct segment of the kidney nephron is acid secretion. As daily food intake loads acid into the body, urinary acid excretion is essential, and urine pH can...
    • Erythrocytes take up carbon dioxide and release oxygen, organism-specific biosystem (from REACTOME)
      Erythrocytes take up carbon dioxide and release oxygen, organism-specific biosystemCarbon dioxide (CO2) in plasma is hydrated to yield protons (H+) and bicarbonate (HCO3-) by carbonic anhydrase IV (CA4) located on the apical plasma membranes of endothelial cells. Plasma CO2 is also...
    • Erythrocytes take up oxygen and release carbon dioxide, organism-specific biosystem (from REACTOME)
      Erythrocytes take up oxygen and release carbon dioxide, organism-specific biosystemErythrocytes circulating through the capillaries of the lung must exchange carbon dioxide (CO2) for oxygen (O2) during their short (0.5-1 sec.) transit time in pulmonary tissue (Reviewed in Jensen 20...
    • Metabolism, organism-specific biosystem (from REACTOME)
      Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
    • O2/CO2 exchange in erythrocytes, organism-specific biosystem (from REACTOME)
      O2/CO2 exchange in erythrocytes, organism-specific biosystemIn capillaries of the lungs erythrocytes release carbon dioxide (CO2) and acquire oxygen (O2). In other tissues of the body the reverse reaction occurs (reviewed in Nikinmaa 1997, Jensen 2004).In the...
    • SLC-mediated transmembrane transport, organism-specific biosystem (from REACTOME)
      SLC-mediated transmembrane transport, organism-specific biosystemProteins with transporting functions can be roughly classified into 3 categories: ATP-powered pumps, ion channels, and transporters. Pumps utilize the energy released by ATP hydrolysis to power the m...
    • Transmembrane transport of small molecules, organism-specific biosystem (from REACTOME)
      Transmembrane transport of small molecules, organism-specific biosystem
      Transmembrane transport of small molecules
    • Transport of inorganic cations/anions and amino acids/oligopeptides, organism-specific biosystem (from REACTOME)
      Transport of inorganic cations/anions and amino acids/oligopeptides, organism-specific biosystemTeleologically, one might argue that inorganic cation and anion transport would be evolutionarily among the oldest transport functions. Eight families comprise the group that transports exclusively i...

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • MGC116750, MGC116753, MGC126619, MGC126623

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    anion transmembrane transporter activity TAS
    Traceable Author Statement
    more info
    PubMed 
    anion:anion antiporter activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    ankyrin binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    bicarbonate transmembrane transporter activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    chloride transmembrane transporter activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    inorganic anion exchanger activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    inorganic anion exchanger activity TAS
    Traceable Author Statement
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein homodimerization activity IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein membrane anchor TAS
    Traceable Author Statement
    more info
    PubMed 
    Process Evidence Code Pubs
    anion transport IDA
    Inferred from Direct Assay
    more info
    PubMed 
    bicarbonate transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    bicarbonate transport IDA
    Inferred from Direct Assay
    more info
    PubMed 
    bicarbonate transport TAS
    Traceable Author Statement
    more info
     
    cellular ion homeostasis TAS
    Traceable Author Statement
    more info
    PubMed 
    chloride transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
     
    chloride transport ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    regulation of intracellular pH IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    Component Evidence Code Pubs
    Z disc ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    basolateral plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    blood microparticle HDA PubMed 
    cortical cytoskeleton IDA
    Inferred from Direct Assay
    more info
    PubMed 
    extracellular exosome HDA PubMed 
    integral component of membrane NAS
    Non-traceable Author Statement
    more info
    PubMed 
    integral component of plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    integral component of plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    plasma membrane TAS
    Traceable Author Statement
    more info
     

    General protein information

    Preferred Names
    band 3 anion transport protein
    Names
    Diego blood group
    Froese blood group
    Swann blood group
    Waldner blood group
    Wright blood group
    anion exchange protein 1
    anion exchanger-1
    erythrocyte membrane protein band 3
    erythroid anion exchange protein
    solute carrier family 4 (anion exchanger), member 1 (Diego blood group)
    solute carrier family 4, anion exchanger, member 1 (erythrocyte membrane protein band 3, Diego blood group)
    solute carrier family 4, anion exchanger, number 1

    NCBI Reference Sequences (RefSeq)

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_007498.1 RefSeqGene

      Range
      5001..24745
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000342.3NP_000333.1  band 3 anion transport protein

      See identical proteins and their annotated locations for NP_000333.1

      Status: REVIEWED

      Source sequence(s)
      AC003043, AC003102, X12609
      Consensus CDS
      CCDS11481.1
      UniProtKB/Swiss-Prot
      P02730
      Related
      ENSP00000262418.6, OTTHUMP00000210781, ENST00000262418.11, OTTHUMT00000346194
      Conserved Domains (3) summary
      TIGR00834
      Location:58910
      ae; anion exchange protein
      pfam00955
      Location:372839
      HCO3_cotransp; HCO3- transporter family
      pfam07565
      Location:86329
      Band_3_cyto; Band 3 cytoplasmic domain

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000017.11 Reference GRCh38.p12 Primary Assembly

      Range
      44248390..44268161 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011525129.2XP_011523431.1  band 3 anion transport protein isoform X1

      Conserved Domains (3) summary
      TIGR00834
      Location:58880
      ae; anion exchange protein
      pfam00955
      Location:372809
      HCO3_cotransp; HCO3- transporter family
      pfam07565
      Location:86329
      Band_3_cyto; Band 3 cytoplasmic domain
    2. XM_005257593.5XP_005257650.1  band 3 anion transport protein isoform X3

      See identical proteins and their annotated locations for XP_005257650.1

      UniProtKB/Swiss-Prot
      P02730
      Conserved Domains (3) summary
      TIGR00834
      Location:1845
      ae; anion exchange protein
      pfam00955
      Location:307774
      HCO3_cotransp; HCO3- transporter family
      pfam07565
      Location:21264
      Band_3_cyto; Band 3 cytoplasmic domain
    3. XM_011525130.1XP_011523432.1  band 3 anion transport protein isoform X2

      Conserved Domains (2) summary
      pfam00955
      Location:372770
      HCO3_cotransp; HCO3- transporter family
      pfam07565
      Location:86329
      Band_3_cyto; Band 3 cytoplasmic domain
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