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

Gene ID: 9498, updated on 16-Oct-2021

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
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
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Genomic context

See SLC4A8 in Genome Data Viewer
Location:
12q13.13
Exon count:
33
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 12 NC_000012.12 (51391317..51515763)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (51785230..51909547)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105369767 Neighboring gene bridging integrator 2 Neighboring gene chymotrypsin like elastase 1 Neighboring gene polypeptide N-acetylgalactosaminyltransferase 6 Neighboring gene SLC4A8 antisense RNA 1 Neighboring gene uncharacterized LOC105369768 Neighboring gene sodium voltage-gated channel alpha subunit 8 Neighboring gene SCN8A eExon liver enhancer Neighboring gene heterogeneous nuclear ribonucleoprotein A3 pseudogene 10

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 Apr 4 07:08:55 2018

Bibliography

Phenotypes

Associated conditions

Description Tests
Genome-wide association study of the rate of cognitive decline in Alzheimer's disease.
GeneReviews: Not available

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ46462, DKFZp761B2318

Gene Ontology Provided by GOA

Process Evidence Code Pubs
involved_in bicarbonate transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in bicarbonate transport IDA
Inferred from Direct Assay
more info
PubMed 
involved_in bicarbonate transport TAS
Traceable Author Statement
more info
 
involved_in chloride transmembrane transport IDA
Inferred from Direct Assay
more info
PubMed 
involved_in ion homeostasis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
acts_upstream_of_or_within modulation of chemical synaptic transmission ISS
Inferred from Sequence or Structural Similarity
more info
 
acts_upstream_of_or_within positive regulation of synaptic vesicle exocytosis ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in regulation of intracellular pH IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
acts_upstream_of_or_within regulation of intracellular pH IDA
Inferred from Direct Assay
more info
PubMed 
acts_upstream_of_or_within regulation of intracellular pH ISS
Inferred from Sequence or Structural Similarity
more info
 
acts_upstream_of_or_within regulation of membrane potential IDA
Inferred from Direct Assay
more info
PubMed 
involved_in sodium ion transmembrane transport IDA
Inferred from Direct Assay
more info
PubMed 
involved_in transmembrane transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in transport across blood-brain barrier NAS
Non-traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
located_in asymmetric synapse ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in axon terminus ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in dendrite IDA
Inferred from Direct Assay
more info
PubMed 
located_in glial cell projection ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in glutamatergic synapse ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in hippocampal mossy fiber ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
located_in membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in neuron projection ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in neuronal cell body membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in plasma membrane ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
located_in plasma membrane TAS
Traceable Author Statement
more info
 
located_in presynapse ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in presynaptic membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in symmetric synapse ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in synaptic vesicle ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in terminal bouton ISS
Inferred from Sequence or Structural Similarity
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)

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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_032675.2 RefSeqGene

    Range
    38385..129317
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001039960.3NP_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, DQ063579
    Consensus CDS
    CCDS44890.1
    UniProtKB/Swiss-Prot
    Q2Y0W8
    Related
    ENSP00000405812.2, ENST00000453097.7
    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_001258401.3NP_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_001258402.2NP_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_001258403.2NP_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, ENST00000514353.7
    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_001267615.2NP_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, ENST00000535225.6
    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_047672.2 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 Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p13 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
    Related
    ENST00000604314.5
    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 (1) summary
    cl26877
    Location:1171023
    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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