Slc4a1 solute carrier family 4 (anion exchanger), member 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Slc4a1provided by MGI
Official Full Name: solute carrier family 4 (anion exchanger), member 1provided by MGI
Primary source: MGI:MGI:109393
See related: Ensembl:ENSMUSG00000006574 AllianceGenome:MGI:109393
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: Ae1; CD233; Empb3; l11Jus51
Summary: Enables anion transmembrane transporter activity; ankyrin binding activity; and hemoglobin binding activity. Involved in chloride transport. Acts upstream of or within several processes, including bicarbonate transport; erythrocyte development; and negative regulation of glycolytic process through fructose-6-phosphate. Located in basolateral plasma membrane; cortical cytoskeleton; and cytoplasmic side of plasma membrane. Is expressed in several structures, including blood; blood vessel; liver; lung; and metanephros. Used to study hereditary spherocytosis type 4 and renal tubular acidosis. Human ortholog(s) of this gene implicated in congenital hemolytic anemia; hereditary spherocytosis; hereditary spherocytosis type 4; malaria; and renal tubular acidosis. Orthologous to human SLC4A1 (solute carrier family 4 member 1 (Diego blood group)). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Biased expression in liver E14.5 (RPKM 452.9), liver E14 (RPKM 362.2) and 4 other tissues See more
Orthologs: human all
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Genomic context

Location:: 11 66.29 cM; 11 D

Exon count:: 20

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	11	NC_000077.7 (102239646..102256107, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	11	NC_000077.6 (102348820..102365281, complement)

Chromosome 11 - NC_000077.7 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?

Extracellular vesicle-derived miR-1249-5p regulates influenza A virus-induced acute lung injury in RAW246.7 cells through targeting SLC4A1.
Title: Extracellular vesicle-derived miR-1249-5p regulates influenza A virus-induced acute lung injury in RAW246.7 cells through targeting SLC4A1.
protective factor in the pathogenesis of Meniere's disease
Title: Solute carrier family 4 member 1 might participate in the pathogenesis of Meniere's disease in a murine endolymphatic hydrop model.
properties are controlled by the O2-dependent association of hemoglobin with band 3
Title: Reversible binding of hemoglobin to band 3 constitutes the molecular switch that mediates O2 regulation of erythrocyte properties.
NH4Cl loading elicited adaptive doubling of AE1 mRNA in GPR4+/+, but a 50% less pronounced response in GPR4-/-.
Title: Adaptation by the collecting duct to an exogenous acid load is blunted by deletion of the proton-sensing receptor GPR4.
Activities of AE1 and the sodium pump are coregulated in kidney.
Title: Physical and functional links between anion exchanger-1 and sodium pump.
AE1 is enhanced by acidosis, NaCl, and the combination of DOCA and NaHCO3 in renal collecting ducts.
Title: Regulation of two renal chloride transporters, AE1 and pendrin, by electrolytes and aldosterone.
These findings indicate that the conserved YXXPhi sequence or a noncanonical YXXXPhi sequence in the N-terminal region facilitates the endocytic recycling of erythroid AE1 through a clathrin-mediated pathway.
Title: Clathrin-mediated endocytosis of mammalian erythroid AE1 anion exchanger facilitated by a YXXΦ or a noncanonical YXXXΦ motif in the N-terminal stretch.
These results suggest that AE1 is potentially a key therapeutic target and the silencing of AE1 expression in gastric mucosa could provide a new therapeutic approach for treating gastric cancer.
Title: Anti-tumour effects of small interfering RNA targeting anion exchanger 1 in experimental gastric cancer.
These results demonstrate that mammalian erythroblast enucleation does not depend on the membrane integrity generated by the ankyrin-band 3 complex.
Title: Ankyrin and band 3 differentially affect expression of membrane glycoproteins but are not required for erythroblast enucleation.
Data suggest that glycophorin A (Gpa) increases expression and activity of Cl-/HCO3- exchanger Ae1, that G719D mutation renders Ae1 mutant constructs GPA-unresponsive, and suggests a role for Ae1 amino acids 22-28 in GPA responsiveness.
Title: Interactions of mouse glycophorin A with the dRTA-related mutant G719D of the mouse Cl-/HCO3- exchanger Ae1.

Submit: New GeneRIF Correction See all GeneRIFs (26)

Variation

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Alleles

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

Spontaneous (1)
Targeted (5) 1 citation
Chemically induced (ENU) (1) 1 citation
Endonuclease-mediated (2)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Slc4a1 (e-PCR), detects polymorphism
- UniSTS:144431

Slc4a1 (e-PCR), detects polymorphism
- UniSTS:144432

PMC162203P2 (e-PCR)
- UniSTS:271458

AW551993 (e-PCR)
- UniSTS:208751

D1S3690 (e-PCR)
- UniSTS:474268

Slc4a1 (e-PCR), detects polymorphism
- UniSTS:546013

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables actin binding	ISO Inferred from Sequence Orthology more info
enables ankyrin binding	IPI Inferred from Physical Interaction more info	PubMed
enables ankyrin binding	ISO Inferred from Sequence Orthology more info
enables antiporter activity	IEA Inferred from Electronic Annotation more info
enables bicarbonate transmembrane transporter activity	IBA Inferred from Biological aspect of Ancestor more info
enables bicarbonate transmembrane transporter activity	IDA Inferred from Direct Assay more info	PubMed
enables bicarbonate transmembrane transporter activity	ISO Inferred from Sequence Orthology more info
enables chloride transmembrane transporter activity	IDA Inferred from Direct Assay more info	PubMed
enables chloride:bicarbonate antiporter activity	IMP Inferred from Mutant Phenotype 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 hemoglobin binding	IDA Inferred from Direct Assay more info	PubMed
enables monoatomic anion transmembrane transporter activity	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein homodimerization activity	ISO Inferred from Sequence Orthology more info
enables protein-containing complex binding	ISO Inferred from Sequence Orthology more info
enables solute:inorganic anion antiporter activity	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in bicarbonate transport	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within bicarbonate transport	IDA Inferred from Direct Assay more info	PubMed
involved_in bicarbonate transport	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within blood coagulation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in chloride transmembrane transport	ISO Inferred from Sequence Orthology more info
involved_in chloride transport	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within erythrocyte development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in monoatomic anion transport	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within monoatomic ion transport	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within negative regulation of glycolytic process through fructose-6-phosphate	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within negative regulation of oxidoreductase activity	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within negative regulation of urine volume	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within pH elevation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within plasma membrane phospholipid scrambling	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of T cell proliferation	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within protein localization to plasma membrane	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of intracellular pH	IBA Inferred from Biological aspect of Ancestor more info
involved_in response to activity	ISO Inferred from Sequence Orthology more info
involved_in response to arsenic-containing substance	ISO Inferred from Sequence Orthology more info
involved_in response to carbon dioxide	ISO Inferred from Sequence Orthology more info
involved_in response to hydrogen peroxide	ISO Inferred from Sequence Orthology more info
involved_in transmembrane transport	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in Z disc	ISO Inferred from Sequence Orthology more info
part_of ankyrin-1 complex	ISO Inferred from Sequence Orthology more info
is_active_in basolateral plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in basolateral plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in basolateral plasma membrane	ISO Inferred from Sequence Orthology more info
located_in cell surface	ISO Inferred from Sequence Orthology more info
located_in cortical cytoskeleton	IDA Inferred from Direct Assay more info	PubMed
located_in cortical cytoskeleton	ISO Inferred from Sequence Orthology more info
located_in cytoplasmic side of plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in intercalated disc	ISO Inferred from Sequence Orthology more info
located_in membrane	IDA Inferred from Direct Assay more info	PubMed
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: band 3 anion transport protein

Names: AE 1; MEB3; anion exchange protein 1; anion exchanger 1; erythrocyte membrane protein band 3; solute carrier family 4 member 1

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_011403.2 → NP_035533.1 band 3 anion transport protein

See identical proteins and their annotated locations for NP_035533.1

Status: VALIDATED

Source sequence(s)

AK158143, BC052419, W75328

Consensus CDS

CCDS25496.1

UniProtKB/Swiss-Prot

P04919

UniProtKB/TrEMBL

Q3TAJ4, Q3TNL6, Q3TZJ1, Q53ZN9

Related

ENSMUSP00000006749.10, ENSMUST00000006749.10

Conserved Domains (3) summary

TIGR00834
Location:72 → 928

ae; anion exchange protein

pfam00955
Location:391 → 857

HCO3_cotransp; HCO3- transporter family

pfam07565
Location:100 → 342

Band_3_cyto; Band 3 cytoplasmic domain