Slc4a5 solute carrier family 4, sodium bicarbonate cotransporter, member 5 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Slc4a5provided by MGI
Official Full Name: solute carrier family 4, sodium bicarbonate cotransporter, member 5provided by MGI
Primary source: MGI:MGI:2443220
See related: Ensembl:ENSMUSG00000068323 AllianceGenome:MGI:2443220
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: C330006M16; C330016K18Rik
Summary: Predicted to enable sodium:bicarbonate symporter activity. Acts upstream of or within several processes, including cerebrospinal fluid secretion; mitochondrion distribution; and retina development in camera-type eye. Predicted to be located in apical plasma membrane. Predicted to be active in plasma membrane. Is expressed in several structures, including nervous system; retina; and thyroid gland. Orthologous to human SLC4A5 (solute carrier family 4 member 5). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Biased expression in lung adult (RPKM 8.8), duodenum adult (RPKM 3.6) and 10 other tissues See more
Orthologs: human all
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Genomic context

Location:: 6 C3; 6 35.94 cM

Exon count:: 31

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	6	NC_000072.7 (83184561..83281927)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	6	NC_000072.6 (83207580..83304945)

Chromosome 6 - NC_000072.7 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?

A Splicing Mutation in Slc4a5 Results in Retinal Detachment and Retinal Pigment Epithelium Dysfunction.
Title: A Splicing Mutation in Slc4a5 Results in Retinal Detachment and Retinal Pigment Epithelium Dysfunction.
Study shows that the HCO3 (-) transporter NBCe2 in the choroid plexus of the blood-cerebrospinal fluid barrier is absolutely necessary for normalizing cerebrospinal fluid pH during high levels of CO2 .
Title: The choroid plexus sodium-bicarbonate cotransporter NBCe2 regulates mouse cerebrospinal fluid pH.
NBCe2 has an important role to regulate urinary acidification and the transport of K(+) and Ca(2+) in the distal nephron
Title: Deficient acid handling with distal RTA in the NBCe2 knockout mouse.
In the absence of Na(+)-HCO3 (-) cotransporter electrogenic 2 in the late distal tubule, acid-loaded mice exhibit disinhibition of ENaC-mediated Na(+) reabsorption, which results in Na(+) retention, K(+) wasting, and hypertension.
Title: Increased Epithelial Sodium Channel Activity Contributes to Hypertension Caused by Na+-HCO3- Cotransporter Electrogenic 2 Deficiency.
study has shown that SLC4A5 is involved in the regulation of the acid-base balance as well as in the regulation of blood pressure; concludes that the impairment of the function of SLC4A5 favors development of a hypertensive state
Title: Targeted mutation of SLC4A5 induces arterial hypertension and renal metabolic acidosis.
targeted disruption of the Slc4a5 gene encoding the electrogenic sodium bicarbonate cotransporter NBCe2 results in significant remodeling of choroid plexus epithelial cells, including abnormal mitochondrial distribution.
Title: Severe neurologic impairment in mice with targeted disruption of the electrogenic sodium bicarbonate cotransporter NBCe2 (Slc4a5 gene).
The NBCe2 mediates the efflux of HCO3(-) and Na(+) from the cell into the cerebrospinal fluid at the apical membrane of the choroid plexus.
Title: NBCe2 exhibits a 3 HCO3(-):1 Na+ stoichiometry in mouse choroid plexus epithelial cells.

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Variation

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Alleles

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

Chemically induced (ENU) (1) 1 citation
Endonuclease-mediated (1)
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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Markers

Slc4a5 (e-PCR), detects polymorphism
- UniSTS:547122

Slc4a5 (e-PCR), detects polymorphism
- UniSTS:547123

D6Mit360 (e-PCR), detects polymorphism
- UniSTS:130912

D6Mit360.1 (e-PCR), detects polymorphism
- UniSTS:130913

45.MMHAP68FLG6.seq (e-PCR)
- UniSTS:124588

D6Mit211 (e-PCR), detects polymorphism
- UniSTS:130755

D6Mit211.2 (e-PCR), detects polymorphism
- UniSTS:130756

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables antiporter activity	IEA Inferred from Electronic Annotation more info
enables monoatomic anion transmembrane transporter activity	IEA Inferred from Electronic Annotation more info
enables sodium:bicarbonate symporter activity	IBA Inferred from Biological aspect of Ancestor more info
enables sodium:bicarbonate symporter activity	IDA Inferred from Direct Assay more info	PubMed
enables sodium:bicarbonate symporter activity	ISO Inferred from Sequence Orthology more info
enables solute:inorganic anion antiporter activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in bicarbonate transport	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within cerebrospinal fluid secretion	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within epithelial cell development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within mitochondrion distribution	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	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within regulation of gene expression	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of intracellular pH	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within regulation of systemic arterial blood pressure	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in renal system process	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within renal system process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within retina development in camera-type eye	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within sodium ion transport	IEA Inferred from Electronic Annotation more info
involved_in transmembrane transport	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in apical plasma membrane	ISO Inferred from Sequence Orthology more info
located_in basolateral plasma membrane	ISO Inferred from Sequence Orthology more info
located_in membrane	IEA Inferred from Electronic Annotation more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: electrogenic sodium bicarbonate cotransporter 4

Names: anion exchange protein; solute carrier family 4 member 5

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_001166067.1 → NP_001159539.1 electrogenic sodium bicarbonate cotransporter 4

Status: VALIDATED

Source sequence(s)

AC160400, BB398090, BQ175480, BY732178, CA526642, CF725373, CK626530, CK626745, CO424019, CO428205, CO431509, CX562762

Consensus CDS

CCDS51819.1

UniProtKB/TrEMBL

D3YVG0, D3YX36

Related

ENSMUSP00000041007.8, ENSMUST00000039212.8

Conserved Domains (3) summary

TIGR00834
Location:7 → 931

ae; anion exchange protein

pfam00955
Location:365 → 884

HCO3_cotransp; HCO3- transporter family

pfam07565
Location:25 → 292

Band_3_cyto; Band 3 cytoplasmic domain

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_000072.7 Reference GRCm39 C57BL/6J

Range

83184561..83281927

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006505964.3 → XP_006506027.1 electrogenic sodium bicarbonate cotransporter 4 isoform X2

UniProtKB/Swiss-Prot

E9Q3M5

Conserved Domains (1) summary

cl26877
Location:126 → 1094

Band_3_cyto; Band 3 cytoplasmic domain
XM_006505965.3 → XP_006506028.1 electrogenic sodium bicarbonate cotransporter 4 isoform X3

UniProtKB/Swiss-Prot

E9Q3M5

Conserved Domains (1) summary

cl26877
Location:126 → 1059

Band_3_cyto; Band 3 cytoplasmic domain
XM_006505967.3 → XP_006506030.1 electrogenic sodium bicarbonate cotransporter 4 isoform X5

UniProtKB/Swiss-Prot

E9Q3M5

Related

ENSMUSP00000109533.2, ENSMUST00000113900.8

Conserved Domains (1) summary

cl26877
Location:126 → 1059

Band_3_cyto; Band 3 cytoplasmic domain
XM_006505963.4 → XP_006506026.1 electrogenic sodium bicarbonate cotransporter 4 isoform X1

UniProtKB/Swiss-Prot

E9Q3M5

Conserved Domains (1) summary

cl26877
Location:113 → 1174

Band_3_cyto; Band 3 cytoplasmic domain
XM_006505966.2 → XP_006506029.1 electrogenic sodium bicarbonate cotransporter 4 isoform X4

UniProtKB/Swiss-Prot

E9Q3M5

Conserved Domains (1) summary

cl26877
Location:7 → 1059

Band_3_cyto; Band 3 cytoplasmic domain