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

Gene ID: 9498, updated on 12-May-2016
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 HPRD:05430; 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]
Orthologs
Location:
12q13.13
Exon count:
32
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 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 LOC105369768 Neighboring gene sodium voltage-gated channel alpha subunit 8 Neighboring gene heterogeneous nuclear ribonucleoprotein A3 pseudogene 10 Neighboring gene uncharacterized LOC105378249 Neighboring gene fidgetin like 2

NHGRI GWAS Catalog

Description
Genome-wide association study of the rate of cognitive decline in Alzheimer's disease.
NHGRI GWA Catalog
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • FLJ46462, DKFZp761B2318

Gene Ontology Provided by GOA

Function Evidence Code Pubs
anion transmembrane transporter activity IBA
Inferred from Biological aspect of Ancestor
more info
 
anion:anion antiporter activity IEA
Inferred from Electronic Annotation
more info
 
inorganic anion exchanger activity TAS
Traceable Author Statement
more info
 
Process Evidence Code Pubs
anion transmembrane transport IBA
Inferred from Biological aspect of Ancestor
more info
 
bicarbonate transport IBA
Inferred from Biological aspect of Ancestor
more info
 
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
 
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
 
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
 
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

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, OTTHUMP00000241291, ENST00000453097, OTTHUMT00000404356
    Conserved Domains (3) summary
    pfam00955
    Location:444958
    HCO3_cotransp; HCO3- transporter family
    pfam07565
    Location:145404
    Band_3_cyto; Band 3 cytoplasmic domain
    TIGR00834
    Location:1171005
    ae; anion exchange protein
  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, ENST00000358657
    Conserved Domains (3) summary
    pfam00955
    Location:391905
    HCO3_cotransp; HCO3- transporter family
    pfam07565
    Location:92351
    Band_3_cyto; Band 3 cytoplasmic domain
    TIGR00834
    Location:64952
    ae; anion exchange protein
  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 (2) summary
    pfam00955
    Location:444670
    HCO3_cotransp; HCO3- transporter family
    pfam07565
    Location:145404
    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, OTTHUMP00000241293, ENST00000514353, OTTHUMT00000404361
    Conserved Domains (3) summary
    pfam00955
    Location:391671
    HCO3_cotransp; HCO3- transporter family
    pfam07565
    Location:92351
    Band_3_cyto; Band 3 cytoplasmic domain
    pfam13900
    Location:695714
    GVQW; Putative binding domain
  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, OTTHUMP00000273116, ENST00000535225, OTTHUMT00000469899
    Conserved Domains (2) summary
    pfam00955
    Location:391617
    HCO3_cotransp; HCO3- transporter family
    pfam07565
    Location:92351
    Band_3_cyto; Band 3 cytoplasmic domain

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

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107 details...

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p2 Primary Assembly

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

mRNA and Protein(s)

  1. XM_011539011.1XP_011537313.1  

    Conserved Domains (3) summary
    pfam00955
    Location:391923
    HCO3_cotransp; HCO3- transporter family
    pfam07565
    Location:92351
    Band_3_cyto; Band 3 cytoplasmic domain
    TIGR00834
    Location:64970
    ae; anion exchange protein
  2. XM_011539010.1XP_011537312.1  

    Conserved Domains (3) summary
    pfam00955
    Location:444976
    HCO3_cotransp; HCO3- transporter family
    pfam07565
    Location:145404
    Band_3_cyto; Band 3 cytoplasmic domain
    TIGR00834
    Location:1171023
    ae; anion exchange protein
  3. XM_011539012.1XP_011537314.1  

    Conserved Domains (2) summary
    pfam00955
    Location:444923
    HCO3_cotransp; HCO3- transporter family
    pfam07565
    Location:145404
    Band_3_cyto; Band 3 cytoplasmic domain
  4. XM_006719700.1XP_006719763.1  

    Conserved Domains (3) summary
    pfam00955
    Location:444724
    HCO3_cotransp; HCO3- transporter family
    pfam07565
    Location:145404
    Band_3_cyto; Band 3 cytoplasmic domain
    pfam13900
    Location:748767
    GVQW; Putative binding domain
  5. XM_011539013.1XP_011537315.1  

    Conserved Domains (2) summary
    pfam00955
    Location:237769
    HCO3_cotransp; HCO3- transporter family
    pfam07565
    Location:1197
    Band_3_cyto; Band 3 cytoplasmic domain
  6. XM_011539014.1XP_011537316.1  

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

Alternate CHM1_1.1

Genomic

  1. NC_018923.2 Alternate CHM1_1.1

    Range
    51751635..51876068
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

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.