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    SLC4A8 solute carrier family 4 member 8 [ Homo sapiens (human) ]

    Gene ID: 9498, updated on 12-Aug-2018

    Summary

    Official Symbol
    SLC4A8provided by HGNC
    Official Full Name
    solute carrier family 4 member 8provided by HGNC
    Primary source
    HGNC:HGNC:11034
    See related
    Ensembl:ENSG00000050438 MIM:605024; Vega:OTTHUMG00000169489
    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
    NBC3; NDCBE
    Summary
    The protein encoded by this gene is a membrane protein that functions to transport sodium and bicarbonate ions across the cell membrane. The encoded protein is important for pH regulation in neurons. The activity of this protein can be inhibited by 4,4'-Di-isothiocyanatostilbene-2,2'-disulfonic acid (DIDS). Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012]
    Expression
    Biased expression in testis (RPKM 5.0), brain (RPKM 4.6) and 9 other tissues See more
    Orthologs

    Genomic context

    See SLC4A8 in Genome Data Viewer
    Location:
    12q13.13
    Exon count:
    33
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 12 NC_000012.12 (51391317..51515763)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (51785101..51909547)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105369767 Neighboring gene bridging integrator 2 Neighboring gene chymotrypsin like elastase family member 1 Neighboring gene polypeptide N-acetylgalactosaminyltransferase 6 Neighboring gene uncharacterized LOC107984508 Neighboring gene uncharacterized LOC105369768 Neighboring gene sodium voltage-gated channel alpha subunit 8 Neighboring gene heterogeneous nuclear ribonucleoprotein A3 pseudogene 10 Neighboring gene uncharacterized LOC105369971 Neighboring gene fidgetin like 2

    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

    Pathways from BioSystems

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • FLJ46462, DKFZp761B2318

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    anion:anion antiporter activity IEA
    Inferred from Electronic Annotation
    more info
     
    inorganic anion exchanger activity TAS
    Traceable Author Statement
    more info
     
    sodium:bicarbonate symporter activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    Process Evidence Code Pubs
    anion transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
     
    bicarbonate transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    bicarbonate transport TAS
    Traceable Author Statement
    more info
     
    inorganic anion transport IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of intracellular pH IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    sodium ion transport IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    integral component of plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    neuron projection IEA
    Inferred from Electronic Annotation
    more info
     
    neuronal cell body membrane IEA
    Inferred from Electronic Annotation
    more info
     
    plasma membrane TAS
    Traceable Author Statement
    more info
     

    General protein information

    Preferred Names
    electroneutral sodium bicarbonate exchanger 1
    Names
    electroneutral Na(+)-driven Cl-HCO3 exchanger
    k-NBC3
    solute carrier family 4, sodium bicarbonate cotransporter, member 8

    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_032675.1 RefSeqGene

      Range
      38364..129317
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001039960.2NP_001035049.1  electroneutral sodium bicarbonate exchanger 1 isoform a

      See identical proteins and their annotated locations for NP_001035049.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a).
      Source sequence(s)
      AC025097, AW118662, DB220099, DQ063579
      Consensus CDS
      CCDS44890.1
      UniProtKB/Swiss-Prot
      Q2Y0W8
      Related
      ENSP00000405812.2, OTTHUMP00000241291, ENST00000453097.6, OTTHUMT00000404356
      Conserved Domains (3) summary
      TIGR00834
      Location:1171005
      ae; anion exchange protein
      pfam00955
      Location:445958
      HCO3_cotransp; HCO3- transporter family
      pfam07565
      Location:145404
      Band_3_cyto; Band 3 cytoplasmic domain
    2. NM_001258401.2NP_001245330.1  electroneutral sodium bicarbonate exchanger 1 isoform c

      See identical proteins and their annotated locations for NP_001245330.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (c) is shorter at the N-terminus compared to isoform a.
      Source sequence(s)
      AC025097, AK295315, AW118662, DQ975204
      Consensus CDS
      CCDS73470.1
      UniProtKB/Swiss-Prot
      Q2Y0W8
      Related
      ENSP00000351483.4, ENST00000358657.7
      Conserved Domains (3) summary
      TIGR00834
      Location:64952
      ae; anion exchange protein
      pfam00955
      Location:392905
      HCO3_cotransp; HCO3- transporter family
      pfam07565
      Location:92351
      Band_3_cyto; Band 3 cytoplasmic domain
    3. NM_001258402.1NP_001245331.1  electroneutral sodium bicarbonate exchanger 1 isoform d

      See identical proteins and their annotated locations for NP_001245331.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) differs in the 3' UTR and coding sequence compared to variant 1. The resulting isoform (d) has a shorter and distinct C-terminus compared to isoform a.
      Source sequence(s)
      BC025994, DB220099
      UniProtKB/Swiss-Prot
      Q2Y0W8
      Conserved Domains (1) summary
      cl26877
      Location:117623
      Band_3_cyto; Band 3 cytoplasmic domain
    4. NM_001258403.1NP_001245332.1  electroneutral sodium bicarbonate exchanger 1 isoform e

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) differs in the 5' and 3' UTRs and coding sequences compared to variant 1. The resulting isoform (e) is shorter at the N-terminus and has a shorter and distinct C-terminus compared to isoform a.
      Source sequence(s)
      AC107031, AL831915
      Consensus CDS
      CCDS58232.1
      UniProtKB/Swiss-Prot
      Q2Y0W8
      Related
      ENSP00000442561.2, OTTHUMP00000241293, ENST00000514353.7, OTTHUMT00000404361
      Conserved Domains (3) summary
      pfam07565
      Location:92351
      Band_3_cyto; Band 3 cytoplasmic domain
      pfam13900
      Location:695714
      GVQW; Putative domain of unknown function
      cl23746
      Location:392671
      HCO3_cotransp; HCO3- transporter family
    5. NM_001267615.1NP_001254544.1  electroneutral sodium bicarbonate exchanger 1 isoform f

      Status: REVIEWED

      Description
      Transcript Variant: This variant (7) has an alternate first exon and differs in the 3' UTR and coding sequence compared to variant 1. The resulting isoform (f) is shorter at the N-terminus and has a shorter and distinct C-terminus compared to isoform a.
      Source sequence(s)
      AK295315, BC025994
      Consensus CDS
      CCDS58233.1
      UniProtKB/Swiss-Prot
      Q2Y0W8
      Related
      ENSP00000441520.1, OTTHUMP00000273116, ENST00000535225.6, OTTHUMT00000469899
      Conserved Domains (2) summary
      pfam07565
      Location:92351
      Band_3_cyto; Band 3 cytoplasmic domain
      cl23746
      Location:392593
      HCO3_cotransp; HCO3- transporter family

    RNA

    1. NR_047672.1 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) lacks most of the 3' end and contains an alternate 3' exon compared to variant 1. This variant is not thought to be protein-coding.
      Source sequence(s)
      AI377345, DB220099
      Related
      ENST00000548811.5

    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_000012.12 Reference GRCh38.p12 Primary Assembly

      Range
      51391317..51515763
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011539011.1XP_011537313.1  electroneutral sodium bicarbonate exchanger 1 isoform X4

      Conserved Domains (1) summary
      cl26877
      Location:64970
      Band_3_cyto; Band 3 cytoplasmic domain
    2. XM_017020241.2XP_016875730.1  electroneutral sodium bicarbonate exchanger 1 isoform X3

      UniProtKB/Swiss-Prot
      Q2Y0W8
      Conserved Domains (3) summary
      TIGR00834
      Location:1441032
      ae; anion exchange protein
      pfam00955
      Location:472985
      HCO3_cotransp; HCO3- transporter family
      pfam07565
      Location:172431
      Band_3_cyto; Band 3 cytoplasmic domain
    3. XM_017020242.1XP_016875731.1  electroneutral sodium bicarbonate exchanger 1 isoform X4

      Conserved Domains (1) summary
      cl26877
      Location:64970
      Band_3_cyto; Band 3 cytoplasmic domain
    4. XM_024449282.1XP_024305050.1  electroneutral sodium bicarbonate exchanger 1 isoform X4

      Conserved Domains (1) summary
      cl26877
      Location:64970
      Band_3_cyto; Band 3 cytoplasmic domain
    5. XM_017020240.1XP_016875729.1  electroneutral sodium bicarbonate exchanger 1 isoform X2

    6. XM_011539010.1XP_011537312.1  electroneutral sodium bicarbonate exchanger 1 isoform X1

      Conserved Domains (3) summary
      TIGR00834
      Location:1171023
      ae; anion exchange protein
      pfam00955
      Location:445976
      HCO3_cotransp; HCO3- transporter family
      pfam07565
      Location:145404
      Band_3_cyto; Band 3 cytoplasmic domain
    7. XM_006719700.1XP_006719763.1  electroneutral sodium bicarbonate exchanger 1 isoform X5

      Conserved Domains (3) summary
      pfam07565
      Location:145404
      Band_3_cyto; Band 3 cytoplasmic domain
      pfam13900
      Location:748767
      GVQW; Putative domain of unknown function
      cl23746
      Location:445724
      HCO3_cotransp; HCO3- transporter family
    8. XM_011539014.3XP_011537316.1  electroneutral sodium bicarbonate exchanger 1 isoform X6

      Conserved Domains (1) summary
      pfam00955
      Location:1487
      HCO3_cotransp; HCO3- transporter family

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_004858.2: Suppressed sequence

      Description
      NM_004858.2: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
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