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SLC4A3 solute carrier family 4 member 3 [ Homo sapiens (human) ]

Gene ID: 6508, updated on 7-Oct-2018

Summary

Official Symbol
SLC4A3provided by HGNC
Official Full Name
solute carrier family 4 member 3provided by HGNC
Primary source
HGNC:HGNC:11029
See related
Ensembl:ENSG00000114923 MIM:106195; Vega:OTTHUMG00000059238
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
AE3; SLC2C; CAE3/BAE3
Summary
The protein encoded by this gene is a plasma membrane anion exchange protein. The encoded protein has been found in brain, heart, kidney, small intestine, and lung. [provided by RefSeq, May 2016]
Expression
Biased expression in heart (RPKM 53.3), ovary (RPKM 25.3) and 5 other tissues See more
Orthologs

Genomic context

See SLC4A3 in Genome Data Viewer
Location:
2q35
Exon count:
24
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 2 NC_000002.12 (219627570..219641980)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (220492292..220506702)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene RNA, 7SK small nuclear pseudogene 213 Neighboring gene serine/threonine kinase 11 interacting protein Neighboring gene dnaJ homolog subfamily B member 6-like Neighboring gene ribosomal protein L23 pseudogene 4

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

Related articles in PubMed

Phenotypes

NHGRI GWAS Catalog

Description
Genome-wide SNP associations with rubella-specific cytokine responses in measles-mumps-rubella vaccine recipients.
NHGRI GWA Catalog

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

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
 
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 
Component Evidence Code Pubs
integral component of plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
membrane TAS
Traceable Author Statement
more info
PubMed 
plasma membrane TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
anion exchange protein 3
Names
Anion exchanger 3, neuronal
anion exchanger 3 cardiac isoform
cardiac/brain band 3-like protein
neuronal band 3-like protein
solute carrier family 4 (anion exchanger), member 3

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_050748.1 RefSeqGene

    Range
    5001..19411
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001326559.1NP_001313488.1  anion exchange protein 3 isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) uses an alternate in-frame splice site in the 5' coding region, compared to variant 1, resulting in a longer protein (isoform 2), compared to isoform 1. Variants 2 and 4 both encode the same isoform (2).
    Source sequence(s)
    AC009955, AK226122, AK289974, AK314083, AY142112
    Consensus CDS
    CCDS2446.1
    UniProtKB/Swiss-Prot
    P48751
    Conserved Domains (4) summary
    TIGR00834
    Location:3491258
    ae; anion exchange protein
    pfam00955
    Location:7021188
    HCO3_cotransp; HCO3- transporter family
    pfam07565
    Location:384646
    Band_3_cyto; Band 3 cytoplasmic domain
    pfam15384
    Location:155272
    PAXX; PAXX, PAralog of XRCC4 and XLF, also called C9orf142
  2. NM_005070.3NP_005061.2  anion exchange protein 3 isoform 1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes isoform 1.
    Source sequence(s)
    AK226122, AY142112, BC146656, U05596
    Consensus CDS
    CCDS2445.1
    UniProtKB/Swiss-Prot
    P48751
    Related
    ENSP00000350756.3, OTTHUMP00000196385, ENST00000358055.7, OTTHUMT00000316472
    Conserved Domains (3) summary
    TIGR00834
    Location:3221231
    ae; anion exchange protein
    pfam00955
    Location:6751161
    HCO3_cotransp; HCO3- transporter family
    pfam07565
    Location:357619
    Band_3_cyto; Band 3 cytoplasmic domain
  3. NM_201574.2NP_963868.2  anion exchange protein 3 isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR and uses an alternate in-frame splice site in the 5' coding region, compared to variant 1, resulting in a longer protein (isoform 2), compared to isoform 1. Variants 2 and 4 both encode the same isoform (2).
    Source sequence(s)
    AK226122, AY142112, BC146656
    Consensus CDS
    CCDS2446.1
    UniProtKB/Swiss-Prot
    P48751
    Related
    ENSP00000273063.6, OTTHUMP00000065426, ENST00000273063.10, OTTHUMT00000131427
    Conserved Domains (4) summary
    TIGR00834
    Location:3491258
    ae; anion exchange protein
    pfam00955
    Location:7021188
    HCO3_cotransp; HCO3- transporter family
    pfam07565
    Location:384646
    Band_3_cyto; Band 3 cytoplasmic domain
    pfam15384
    Location:155272
    PAXX; PAXX, PAralog of XRCC4 and XLF, also called C9orf142

RNA

  1. NR_048551.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) uses an alternate splice site compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AC009955, AK314083
    Related
    ENST00000425141.5, OTTHUMT00000131430

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_000002.12 Reference GRCh38.p12 Primary Assembly

    Range
    219627570..219641980
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011511665.2XP_011509967.1  anion exchange protein 3 isoform X1

    Conserved Domains (4) summary
    TIGR00834
    Location:2961205
    ae; anion exchange protein
    pfam00955
    Location:6491135
    HCO3_cotransp; HCO3- transporter family
    pfam07565
    Location:331593
    Band_3_cyto; Band 3 cytoplasmic domain
    pfam15384
    Location:102219
    PAXX; PAXX, PAralog of XRCC4 and XLF, also called C9orf142
  2. XM_005246790.4XP_005246847.1  anion exchange protein 3 isoform X2

    Conserved Domains (1) summary
    TIGR00834
    Location:1241033
    ae; anion exchange protein
  3. XM_011511667.2XP_011509969.1  anion exchange protein 3 isoform X3

    Conserved Domains (2) summary
    pfam00955
    Location:184670
    HCO3_cotransp; HCO3- transporter family
    pfam07565
    Location:4128
    Band_3_cyto; Band 3 cytoplasmic domain
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