Slc4a11 solute carrier family 4, sodium bicarbonate transporter-like, member 11 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Slc4a11provided by MGI
Official Full Name: solute carrier family 4, sodium bicarbonate transporter-like, member 11provided by MGI
Primary source: MGI:MGI:2138987
See related: Ensembl:ENSMUSG00000074796 AllianceGenome:MGI:2138987
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: BTR1; NaBC1
Summary: Predicted to enable ion transmembrane transporter activity; protein dimerization activity; and water transmembrane transporter activity. Involved in fluid transport; ion homeostasis; and regulation of mesenchymal stem cell differentiation. Located in basolateral plasma membrane. Is expressed in metanephros and vomeronasal organ. Used to study congenital hereditary endothelial dystrophy of cornea. Human ortholog(s) of this gene implicated in Fuchs' endothelial dystrophy; congenital hereditary endothelial dystrophy of cornea; and corneal dystrophy-perceptive deafness syndrome. Orthologous to human SLC4A11 (solute carrier family 4 member 11). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Biased expression in kidney adult (RPKM 12.8), ovary adult (RPKM 4.0) and 11 other tissues See more
Orthologs: human all
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Genomic context

Location:: 2 F1; 2 63.24 cM

Exon count:: 20

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	2	NC_000068.8 (130526027..130539439, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	2	NC_000068.7 (130684107..130697519, complement)

Chromosome 2 - NC_000068.8 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?

Corneal Edema in Inducible Slc4a11 Knockout Is Initiated by Mitochondrial Superoxide Induced Src Kinase Activation.
Title: Corneal Edema in Inducible Slc4a11 Knockout Is Initiated by Mitochondrial Superoxide Induced Src Kinase Activation.
Corneal dystrophy mutations R125H and R804H disable SLC4A11 by altering the extracellular pH dependence of the intracellular pK that governs H(+)(OH(-)) transport.
Title: Corneal dystrophy mutations R125H and R804H disable SLC4A11 by altering the extracellular pH dependence of the intracellular pK that governs H(+)(OH(-)) transport.
RNA sequencing uncovers alterations in corneal endothelial metabolism, pump and barrier functions of Slc4a11 KO mice.
Title: RNA sequencing uncovers alterations in corneal endothelial metabolism, pump and barrier functions of Slc4a11 KO mice.
Altered gene expression in slc4a11(-/-) mouse cornea highlights SLC4A11 roles.
Title: Altered gene expression in slc4a11(-/-) mouse cornea highlights SLC4A11 roles.
Mitochondrial Targeting of the Ammonia-Sensitive Uncoupler SLC4A11 by the Chaperone-Mediated Carrier Pathway in Corneal Endothelium.
Title: Mitochondrial Targeting of the Ammonia-Sensitive Uncoupler SLC4A11 by the Chaperone-Mediated Carrier Pathway in Corneal Endothelium.
pH dependence of the Slc4a11-mediated H(+) conductance is influenced by intracellular lysine residues and modified by disease-linked mutations.
Title: pH dependence of the Slc4a11-mediated H(+) conductance is influenced by intracellular lysine residues and modified by disease-linked mutations.
Slc4a11 disruption causes duct cell loss and impairs NaCl reabsorption in female mouse submandibular glands.
Title: Slc4a11 disruption causes duct cell loss and impairs NaCl reabsorption in female mouse submandibular glands.
SLC4A11 is expressed relatively more abundantly in collecting ducts of the lower inner medulla where it is involved in ammonia recycling.
Title: Expression of SLC4A11 protein in mouse and rat medulla: a candidate transporter involved in outer medullary ammonia recycling.
Results provide evidence for a critical role of Vps35 in mouse corneal dystrophy; suggest that SLC4A11 appears to be a Vps35/retromer cargo, and Vps35-regulation of SLC4A11 trafficking may underlie Vps35/retromer regulation of corneal dystrophy.
Title: Vps35-deficiency impairs SLC4A11 trafficking and promotes corneal dystrophy.
the declined tumor cell survival following inhibition of BCT could be the consequence of interplay of several inter-connected regulatory molecular events.
Title: Bicarbonate transport inhibitor SITS modulates pH homeostasis triggering apoptosis of Dalton's lymphoma: implication of novel molecular mechanisms.

Submit: New GeneRIF Correction See all GeneRIFs (14)

Variation

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Alleles

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

Gene trapped (1) 1 citation
Targeted (2) 1 citation
Endonuclease-mediated (1)

General gene information

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Markers

AI503023 (e-PCR)
- UniSTS:164181

Slc4a11 (e-PCR), detects polymorphism
- UniSTS:546014

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables active borate transmembrane transporter activity	ISO Inferred from Sequence Orthology more info
enables antiporter activity	IEA Inferred from Electronic Annotation more info
enables bicarbonate transmembrane transporter activity	ISO Inferred from Sequence Orthology more info
enables protein dimerization activity	ISO Inferred from Sequence Orthology more info
enables proton channel activity	ISO Inferred from Sequence Orthology more info
enables proton transmembrane transporter activity	ISO Inferred from Sequence Orthology more info
enables sodium channel activity	ISO Inferred from Sequence Orthology more info
enables solute:inorganic anion antiporter activity	IEA Inferred from Electronic Annotation more info
enables symporter activity	IEA Inferred from Electronic Annotation more info
enables transmembrane transporter activity	IBA Inferred from Biological aspect of Ancestor more info
enables water transmembrane transporter activity	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in bicarbonate transport	ISO Inferred from Sequence Orthology more info
involved_in borate transport	ISO Inferred from Sequence Orthology more info
involved_in cellular hypotonic response	ISO Inferred from Sequence Orthology more info
involved_in cellular response to oxidative stress	ISO Inferred from Sequence Orthology more info
involved_in fluid transport	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in intracellular monoatomic cation homeostasis	ISO Inferred from Sequence Orthology more info
involved_in monoatomic anion transport	IEA Inferred from Electronic Annotation more info
involved_in monoatomic ion homeostasis	IBA Inferred from Biological aspect of Ancestor more info
involved_in monoatomic ion homeostasis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within monoatomic ion transport	IEA Inferred from Electronic Annotation more info
involved_in proton transmembrane transport	ISO Inferred from Sequence Orthology more info
involved_in regulation of mesenchymal stem cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of mitochondrial membrane potential	ISO Inferred from Sequence Orthology more info
involved_in sodium ion transport	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 apical plasma membrane	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 membrane	IEA Inferred from Electronic Annotation more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	ISO Inferred from Sequence Orthology more info
located_in vesicle membrane	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: solute carrier family 4 member 11

Names: bicarbonate transporter-related protein 1; sodium bicarbonate transporter-like protein 11; sodium borate cotransporter 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_001081162.1 → NP_001074631.1 solute carrier family 4 member 11

See identical proteins and their annotated locations for NP_001074631.1

Status: VALIDATED

Source sequence(s)

AL772162

Consensus CDS

CCDS38244.1

UniProtKB/Swiss-Prot

A2AJN7, Q0VG86, Q3URQ1

Related

ENSMUSP00000096963.5, ENSMUST00000099362.11

Conserved Domains (2) summary

COG1762
Location:199 → 277

PtsN; Phosphotransferase system mannitol/fructose-specific IIA domain (Ntr-type) [Carbohydrate transport and metabolism, Signal transduction mechanisms]

pfam00955
Location:311 → 804

HCO3_cotransp; HCO3- transporter family

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_000068.8 Reference GRCm39 C57BL/6J

Range

130526027..130539439 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006499604.2 → XP_006499667.1 solute carrier family 4 member 11 isoform X1

Conserved Domains (2) summary

COG1762
Location:199 → 277

PtsN; Phosphotransferase system mannitol/fructose-specific IIA domain (Ntr-type) [Carbohydrate transport and metabolism, Signal transduction mechanisms]

pfam00955
Location:310 → 831

HCO3_cotransp; HCO3- transporter family
XM_030251665.1 → XP_030107525.1 solute carrier family 4 member 11 isoform X3

Conserved Domains (2) summary

COG1762
Location:144 → 222

PtsN; Phosphotransferase system mannitol/fructose-specific IIA domain (Ntr-type) [Carbohydrate transport and metabolism, Signal transduction mechanisms]

pfam00955
Location:255 → 750

HCO3_cotransp; HCO3- transporter family
XM_030251664.1 → XP_030107524.1 solute carrier family 4 member 11 isoform X2

Conserved Domains (2) summary

COG1762
Location:123 → 201

PtsN; Phosphotransferase system mannitol/fructose-specific IIA domain (Ntr-type) [Carbohydrate transport and metabolism, Signal transduction mechanisms]

pfam00955
Location:234 → 755

HCO3_cotransp; HCO3- transporter family
XM_006499607.4 → XP_006499670.1 solute carrier family 4 member 11 isoform X4

Conserved Domains (2) summary

COG1762
Location:199 → 277

PtsN; Phosphotransferase system mannitol/fructose-specific IIA domain (Ntr-type) [Carbohydrate transport and metabolism, Signal transduction mechanisms]

cl23746
Location:310 → 509

Xan_ur_permease; Permease family