Slc4a3 solute carrier family 4 (anion exchanger), member 3 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Slc4a3provided by MGI
Official Full Name: solute carrier family 4 (anion exchanger), member 3provided by MGI
Primary source: MGI:MGI:109350
See related: Ensembl:ENSMUSG00000006576 AllianceGenome:MGI:109350
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Ae3; A930038D23Rik
Summary: Enables chloride:bicarbonate antiporter activity. Acts upstream of or within regulation of intracellular pH. Located in plasma membrane. Is expressed in nervous system and testis. Orthologous to human SLC4A3 (solute carrier family 4 member 3). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Broad expression in adrenal adult (RPKM 74.1), heart adult (RPKM 43.5) and 18 other tissues See more
Orthologs: human all
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Genomic context

Location:: 1 C4; 1 39.16 cM

Exon count:: 26

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	1	NC_000067.7 (75522688..75536075)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	1	NC_000067.6 (75546044..75559431)

Chromosome 1 - NC_000067.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

These results support a model in which the AE3 Cl(-)/HCO3(-) exchanger, coupled with parallel Cl(-) and H(+)-extrusion mechanisms and extracellular carbonic anhydrase, is responsible for active transport-mediated disposal of CO2.
Title: RNA SEQ Analysis Indicates that the AE3 Cl(-)/HCO(3)(-) Exchanger Contributes to Active Transport-Mediated CO(2) Disposal in Heart.
These findings suggest a new type of neuron-astrocyte communication, based on the expression of AE3 in neurons, which could explain how AE3 reduces seizure susceptibility
Title: Role of Cl(-) -HCO(3)(-) exchanger AE3 in intracellular pH homeostasis in cultured murine hippocampal neurons, and in crosstalk to adjacent astrocytes.
Ae3 is expressed in murine kidney at very low levels.
Title: The murine Cl⁻/HCO⁻₃ exchanger Ae3 (Slc4a3) is not required for acid-base balance but is involved in magnesium handling by the kidney.
Report the importance of AE3-mediated Cl-/HCO3- exchange in cardiovascular pH regulation and the development of cardiomyocyte hypertrophy.
Title: Resistance to cardiomyocyte hypertrophy in ae3-/- mice, deficient in the AE3 Cl-/HCO3- exchanger.
In the TM180 cardiomyopathy model, loss of AE3 had no apparent anti-hypertrophic effect and led to more rapid decompensation and heart failure.
Title: Loss of the AE3 anion exchanger in a hypertrophic cardiomyopathy model causes rapid decompensation and heart failure.
Identification of Slc4a3 as underlying a previously unrecognized cause of blindness suggests this gene as a new candidate for a subset of hereditary vitreoretinal retinal degeneration
Title: Blindness caused by deficiency in AE3 chloride/bicarbonate exchanger.
Association of AE3 and CAXIV may represent a mechanism to enhance disposal of waste CO(2) and to balance pH in excitable tissues.
Title: Bicarbonate homeostasis in excitable tissues: role of AE3 Cl-/HCO3- exchanger and carbonic anhydrase XIV interaction.
It was concluded that the A867D allele is a functional mutant of AE3 and that the decreased activity of this mutation may cause changes in cell volume and abnormal intracellular pH.
Title: Characterization of an epilepsy-associated variant of the human Cl-/HCO3(-) exchanger AE3.
In hippocampal neurons dissociated from anion exchanger AE3 knock-out mice, ammonium-induced alkalinization was much larger than that seen in neurons from wild-type mice.
Title: Carbonic anhydrases CA4 and CA14 both enhance AE3-mediated Cl--HCO3- exchange in hippocampal neurons.
AE3 and NKCC1 affect Ca2+ handling
Title: Impaired cardiac contractility in mice lacking both the AE3 Cl-/HCO3- exchanger and the NKCC1 Na+-K+-2Cl- cotransporter: effects on Ca2+ handling and protein phosphatases.

Submit: New GeneRIF Correction See all GeneRIFs (12)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Gene trapped (1)
Targeted (2) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables bicarbonate transmembrane transporter activity	ISO Inferred from Sequence Orthology more info
enables chloride:bicarbonate antiporter activity	IDA Inferred from Direct Assay more info	PubMed
enables chloride:bicarbonate antiporter activity	ISO Inferred from Sequence Orthology more info
enables enzyme binding	ISO Inferred from Sequence Orthology more info
enables transmembrane transporter activity	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in bicarbonate transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in bicarbonate transport	IEA Inferred from Electronic Annotation more info
involved_in bicarbonate transport	ISO Inferred from Sequence Orthology more info
involved_in cardiac conduction	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within cardiac conduction	ISO Inferred from Sequence Orthology more info
involved_in chloride transmembrane transport	IEA Inferred from Electronic Annotation more info
involved_in pH reduction	ISO Inferred from Sequence Orthology more info
involved_in pH reduction	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of cardiac muscle cell action potential	ISO Inferred from Sequence Orthology more info
involved_in regulation of cardiac muscle cell action potential	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of intracellular pH	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within regulation of intracellular pH	IDA Inferred from Direct Assay more info	PubMed
involved_in transmembrane transport	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in external side of plasma membrane	IEA Inferred from Electronic Annotation more info
located_in external side of plasma membrane	ISO Inferred from Sequence Orthology more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: anion exchange protein 3

Names: AE 3; anion exchanger 3; neuronal band 3-like protein; solute carrier family 4 member 3

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.

mRNA and Protein(s)

NM_001357149.1 → NP_001344078.1 anion exchange protein 3

Status: VALIDATED

Source sequence(s)

AC115011

Consensus CDS

CCDS15080.1

UniProtKB/Swiss-Prot

P16283, Q9ERP5

UniProtKB/TrEMBL

Q68EG4

Conserved Domains (1) summary

TIGR00834
Location:321 → 1226

ae; anion exchange protein
NM_001357150.1 → NP_001344079.1 anion exchange protein 3

Status: VALIDATED

Source sequence(s)

AC115011

Consensus CDS

CCDS15080.1

UniProtKB/Swiss-Prot

P16283, Q9ERP5

UniProtKB/TrEMBL

Q68EG4

Conserved Domains (1) summary

TIGR00834
Location:321 → 1226

ae; anion exchange protein
NM_009208.3 → NP_033234.2 anion exchange protein 3

See identical proteins and their annotated locations for NP_033234.2

Status: VALIDATED

Source sequence(s)

AK147218, BC080271, BY276474

Consensus CDS

CCDS15080.1

UniProtKB/Swiss-Prot

P16283, Q9ERP5

UniProtKB/TrEMBL

Q68EG4

Related

ENSMUSP00000116747.2, ENSMUST00000124341.8

Conserved Domains (1) summary

TIGR00834
Location:321 → 1226

ae; anion exchange protein

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

NC_000067.7 Reference GRCm39 C57BL/6J

Range

75522688..75536075

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006496450.4 → XP_006496513.1 anion exchange protein 3 isoform X1

See identical proteins and their annotated locations for XP_006496513.1

UniProtKB/Swiss-Prot

P16283, Q9ERP5

UniProtKB/TrEMBL

Q68EG4

Conserved Domains (1) summary

TIGR00834
Location:321 → 1226

ae; anion exchange protein
XM_006496453.3 → XP_006496516.1 anion exchange protein 3 isoform X1

See identical proteins and their annotated locations for XP_006496516.1

UniProtKB/Swiss-Prot

P16283, Q9ERP5

UniProtKB/TrEMBL

Q68EG4

Conserved Domains (1) summary

TIGR00834
Location:321 → 1226

ae; anion exchange protein
XM_036162945.1 → XP_036018838.1 anion exchange protein 3 isoform X2

UniProtKB/TrEMBL

Q68EG4

Conserved Domains (1) summary

TIGR00834
Location:251 → 1156

ae; anion exchange protein
XM_006496454.5 → XP_006496517.1 anion exchange protein 3 isoform X2

See identical proteins and their annotated locations for XP_006496517.1

UniProtKB/TrEMBL

Q68EG4

Conserved Domains (1) summary

TIGR00834
Location:251 → 1156

ae; anion exchange protein
XM_006496456.5 → XP_006496519.1 anion exchange protein 3 isoform X2

See identical proteins and their annotated locations for XP_006496519.1

UniProtKB/TrEMBL

Q68EG4

Conserved Domains (1) summary

TIGR00834
Location:251 → 1156

ae; anion exchange protein
XM_030252387.2 → XP_030108247.1 anion exchange protein 3 isoform X4

Conserved Domains (1) summary

cl26877
Location:1 → 736

Band_3_cyto; Band 3 cytoplasmic domain
XM_006496458.4 → XP_006496521.1 anion exchange protein 3 isoform X4

See identical proteins and their annotated locations for XP_006496521.1

Conserved Domains (1) summary

cl26877
Location:1 → 736

Band_3_cyto; Band 3 cytoplasmic domain
XM_006496455.4 → XP_006496518.1 anion exchange protein 3 isoform X2

See identical proteins and their annotated locations for XP_006496518.1

UniProtKB/TrEMBL

Q68EG4

Conserved Domains (1) summary

TIGR00834
Location:251 → 1156

ae; anion exchange protein
XM_036162961.1 → XP_036018854.1 anion exchange protein 3 isoform X4

Conserved Domains (1) summary

cl26877
Location:1 → 736

Band_3_cyto; Band 3 cytoplasmic domain
XM_030252388.2 → XP_030108248.1 anion exchange protein 3 isoform X4

Conserved Domains (1) summary

cl26877
Location:1 → 736

Band_3_cyto; Band 3 cytoplasmic domain
XM_006496451.4 → XP_006496514.1 anion exchange protein 3 isoform X1

See identical proteins and their annotated locations for XP_006496514.1

UniProtKB/Swiss-Prot

P16283, Q9ERP5

UniProtKB/TrEMBL

Q68EG4

Conserved Domains (1) summary

TIGR00834
Location:321 → 1226

ae; anion exchange protein
XM_006496457.1 → XP_006496520.1 anion exchange protein 3 isoform X3

See identical proteins and their annotated locations for XP_006496520.1

UniProtKB/TrEMBL

Q9ERP4

Conserved Domains (1) summary

TIGR00834
Location:124 → 1029

ae; anion exchange protein
XM_036162963.1 → XP_036018856.1 anion exchange protein 3 isoform X4

Conserved Domains (1) summary

cl26877
Location:1 → 736

Band_3_cyto; Band 3 cytoplasmic domain