Slc8b1 solute carrier family 8 (sodium/lithium/calcium exchanger), member B1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Slc8b1provided by MGI
Official Full Name: solute carrier family 8 (sodium/lithium/calcium exchanger), member B1provided by MGI
Primary source: MGI:MGI:2180781
See related: Ensembl:ENSMUSG00000032754 AllianceGenome:MGI:2180781
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: NCLX; NCKX6; Slc24a6
Summary: Enables calcium:sodium antiporter activity involved in regulation of cardiac muscle cell membrane potential and protein homodimerization activity. Involved in calcium export from the mitochondrion; mitochondrial calcium ion homeostasis; and regulation of lymphocyte chemotaxis. Acts upstream of or within mitochondrial calcium ion transmembrane transport and sodium ion transmembrane transport. Located in mitochondrion and plasma membrane. Is expressed in forelimb bud. Orthologous to human SLC8B1 (solute carrier family 8 member B1). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Broad expression in colon adult (RPKM 34.9), spleen adult (RPKM 21.7) and 21 other tissues See more
Orthologs: human all
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Genomic context

Location:: 5 F; 5 60.63 cM

Exon count:: 16

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	5	NC_000071.7 (120649233..120672089)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	5	NC_000071.6 (120511168..120534024)

Chromosome 5 - NC_000071.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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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?

Mitochondrial sodium/calcium exchanger NCLX regulates glycolysis in astrocytes, impacting on cognitive performance.
Title: Mitochondrial sodium/calcium exchanger NCLX regulates glycolysis in astrocytes, impacting on cognitive performance.
Essential role of the mitochondrial Na[+]/Ca[2+] exchanger NCLX in mediating PDE2-dependent neuronal survival and learning.
Title: Essential role of the mitochondrial Na(+)/Ca(2+) exchanger NCLX in mediating PDE2-dependent neuronal survival and learning.
The mitochondrial sodium/calcium exchanger NCLX (Slc8b1) in B lymphocytes.
Title: The mitochondrial sodium/calcium exchanger NCLX (Slc8b1) in B lymphocytes.
The airway smooth muscle sodium/calcium exchanger NCLX is critical for airway remodeling and hyperresponsiveness in asthma.
Title: The airway smooth muscle sodium/calcium exchanger NCLX is critical for airway remodeling and hyperresponsiveness in asthma.
Enhanced NCLX-dependent mitochondrial Ca(2+) efflux attenuates pathological remodeling in heart failure.
Title: Enhanced NCLX-dependent mitochondrial Ca(2+) efflux attenuates pathological remodeling in heart failure.
Aberrant activity of mitochondrial NCLX is linked to impaired synaptic transmission and is associated with mental retardation.
Title: Aberrant activity of mitochondrial NCLX is linked to impaired synaptic transmission and is associated with mental retardation.
NCLX prevents cell death during adrenergic activation of the brown adipose tissue.
Title: NCLX prevents cell death during adrenergic activation of the brown adipose tissue.
Results found that NCLX reduction/inhibition markedly suppressed chemotaxis while increasing the random migration of B lymphocytes. In addition, the contributions of NCLX to motility were observed only in B lymphocytes and not in T lymphocytes.
Title: Roles of the mitochondrial Na(+)-Ca(2+) exchanger, NCLX, in B lymphocyte chemotaxis.
tamoxifen-induced deletion of Slc8b1 in adult mouse hearts causes sudden death, with less than 13% of affected mice surviving after 14 days; lethality correlated with severe myocardial dysfunction and fulminant heart failure
Title: The mitochondrial Na(+)/Ca(2+) exchanger is essential for Ca(2+) homeostasis and viability.
NCLX mediates the mitochondrial Na(+) influx and is tuned to sense the TTX-sensitive cytosolic Na(+) responses.
Title: Pancreatic β-cell Na+ channels control global Ca2+ signaling and oxidative metabolism by inducing Na+ and Ca2+ responses that are propagated into mitochondria.

Submit: New GeneRIF Correction See all GeneRIFs (17)

Variation

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Alleles

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

Gene trapped (1)
Targeted (2) 1 citation
Endonuclease-mediated (4)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Slc24a6 (e-PCR), detects polymorphism
- UniSTS:547031

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables antiporter activity	IEA Inferred from Electronic Annotation more info
enables calcium:sodium antiporter activity	IBA Inferred from Biological aspect of Ancestor more info
enables calcium:sodium antiporter activity	IDA Inferred from Direct Assay more info	PubMed
enables calcium:sodium antiporter activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables calcium:sodium antiporter activity	ISO Inferred from Sequence Orthology more info
enables calcium:sodium antiporter activity involved in regulation of cardiac muscle cell membrane potential	IC Inferred by Curator more info	PubMed
enables calcium:sodium antiporter activity involved in regulation of cardiac muscle cell membrane potential	IMP Inferred from Mutant Phenotype more info	PubMed
enables identical protein binding	ISO Inferred from Sequence Orthology more info
enables protein homodimerization activity	IPI Inferred from Physical Interaction more info	PubMed
enables protein homodimerization activity	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in calcium export from the mitochondrion	IBA Inferred from Biological aspect of Ancestor more info
involved_in calcium export from the mitochondrion	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in calcium export from the mitochondrion	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within calcium ion transmembrane transport	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within calcium ion transport	IEA Inferred from Electronic Annotation more info
involved_in glucose homeostasis	ISO Inferred from Sequence Orthology more info
involved_in intracellular calcium ion homeostasis	IBA Inferred from Biological aspect of Ancestor more info
involved_in mitochondrial calcium ion homeostasis	IDA Inferred from Direct Assay more info	PubMed
involved_in mitochondrial calcium ion homeostasis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in mitochondrial calcium ion homeostasis	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within mitochondrial calcium ion transmembrane transport	IDA Inferred from Direct Assay more info	PubMed
involved_in mitochondrial calcium ion transmembrane transport	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within mitochondrial calcium ion transmembrane transport	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within monoatomic ion transport	IEA Inferred from Electronic Annotation more info
involved_in regulation of cardiac muscle cell membrane potential	IC Inferred by Curator more info	PubMed
involved_in regulation of cytosolic calcium ion concentration	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of cytosolic calcium ion concentration	ISO Inferred from Sequence Orthology more info
involved_in regulation of insulin secretion	ISO Inferred from Sequence Orthology more info
involved_in regulation of lymphocyte chemotaxis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of store-operated calcium entry	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within response to stimulus	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within sodium ion transmembrane transport	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within sodium ion transport	IEA Inferred from Electronic Annotation more info
involved_in transmembrane transport	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
is_active_in membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in mitochondrial crista	ISO Inferred from Sequence Orthology more info
located_in mitochondrial crista	ISS Inferred from Sequence or Structural Similarity more info	PubMed
located_in mitochondrial inner membrane	ISO Inferred from Sequence Orthology more info
located_in mitochondrial membrane	ISO Inferred from Sequence Orthology more info
located_in mitochondrion	IDA Inferred from Direct Assay more info	PubMed
located_in mitochondrion	ISO Inferred from Sequence Orthology more info
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in sarcolemma	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: mitochondrial sodium/calcium exchanger protein

Names: Na(+)/K(+)/Ca(2+)-exchange protein 6; sodium/calcium exchanger protein, mitochondrial; sodium/potassium/calcium exchanger 6, mitochondrial; solute carrier family 24 (sodium/potassium/calcium exchanger), member 6; solute carrier family 24 member 6; solute carrier family 8 member B1

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_001177594.1 → NP_001171065.1 mitochondrial sodium/calcium exchanger protein isoform 2 precursor

See identical proteins and their annotated locations for NP_001171065.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) lacks an alternate exon and uses an alternate splice site, compared to variant 1. The resulting isoform (2) differs at an internal segment, compared to isoform 1.

Source sequence(s)

AC125183

Consensus CDS

CCDS51634.1

UniProtKB/TrEMBL

D3Z226

Related

ENSMUSP00000107521.3, ENSMUST00000111890.9

Conserved Domains (1) summary

PLN03151
Location:63 → 563

PLN03151; cation/calcium exchanger; Provisional
NM_001177595.1 → NP_001171066.1 mitochondrial sodium/calcium exchanger protein isoform 3 precursor

See identical proteins and their annotated locations for NP_001171066.1

Status: VALIDATED

Description

Transcript Variant: This variant (3) lacks two alternate in-frame exons in the 3' coding region, compared to variant 1. The resulting isoform (3) lacks an internal segment near the C-terminus, compared to isoform 1.

Source sequence(s)

AC125183

Consensus CDS

CCDS51633.1

UniProtKB/Swiss-Prot

Q925Q3

Related

ENSMUSP00000075428.6, ENSMUST00000076051.12

Conserved Domains (2) summary

pfam01699
Location:103 → 246

Na_Ca_ex; Sodium/calcium exchanger protein

cl01507
Location:82 → 118

EIID-AGA; PTS system mannose/fructose/sorbose family IID component
NM_133221.2 → NP_573484.2 mitochondrial sodium/calcium exchanger protein isoform 1 precursor

See identical proteins and their annotated locations for NP_573484.2

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).

Source sequence(s)

AF261233, AK028537, BP766040

Consensus CDS

CCDS39238.1

UniProtKB/Swiss-Prot

Q3U067, Q80XM7, Q925Q3

UniProtKB/TrEMBL

D3Z226

Related

ENSMUSP00000064714.8, ENSMUST00000068326.14

Conserved Domains (1) summary

pfam01699
Location:421 → 574

Na_Ca_ex; Sodium/calcium exchanger 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_000071.7 Reference GRCm39 C57BL/6J

Range

120649233..120672089

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006530174.1 → XP_006530237.1 mitochondrial sodium/calcium exchanger protein isoform X1

UniProtKB/TrEMBL

D3Z226

Conserved Domains (1) summary

PLN03151
Location:63 → 578

PLN03151; cation/calcium exchanger; Provisional
XM_006530175.2 → XP_006530238.1 mitochondrial sodium/calcium exchanger protein isoform X2

UniProtKB/TrEMBL

D3Z226

Conserved Domains (1) summary

PLN03151
Location:63 → 430

PLN03151; cation/calcium exchanger; Provisional