SLC8B1 solute carrier family 8 member B1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: SLC8B1provided by HGNC
Official Full Name: solute carrier family 8 member B1provided by HGNC
Primary source: HGNC:HGNC:26175
See related: Ensembl:ENSG00000089060 MIM:609841; AllianceGenome:HGNC:26175
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: NCLX; NCKX6; SLC24A6
Summary: SLC24A6 belongs to a family of potassium-dependent sodium/calcium exchangers that maintain cellular calcium homeostasis through the electrogenic countertransport of 4 sodium ions for 1 calcium ion and 1 potassium ion (Cai and Lytton, 2004 [PubMed 14625281]).[supplied by OMIM, Mar 2008]
Expression: Ubiquitous expression in ovary (RPKM 24.7), adrenal (RPKM 19.7) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 12q24.13

Exon count:: 16

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	12	NC_000012.12 (113298771..113335109, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	12	NC_060936.1 (113275399..113311727, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	12	NC_000012.11 (113736576..113772914, complement)

Chromosome 12 - NC_000012.12 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: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

CKII Control of Axonal Plasticity Is Mediated by Mitochondrial Ca[2+] via Mitochondrial NCLX.
Title: CKII Control of Axonal Plasticity Is Mediated by Mitochondrial Ca(2+) via Mitochondrial NCLX.
Spatial and Functional Crosstalk between the Mitochondrial Na(+)-Ca(2+) Exchanger NCLX and the Sarcoplasmic Reticulum Ca(2+) Pump SERCA in Cardiomyocytes.
Title: Spatial and Functional Crosstalk between the Mitochondrial Na(+)-Ca(2+) Exchanger NCLX and the Sarcoplasmic Reticulum Ca(2+) Pump SERCA in Cardiomyocytes.
Disrupted expression of mitochondrial NCLX sensitizes neuroglial networks to excitotoxic stimuli and renders synaptic activity toxic.
Title: Disrupted expression of mitochondrial NCLX sensitizes neuroglial networks to excitotoxic stimuli and renders synaptic activity toxic.
Physiological and Pathophysiological Roles of Mitochondrial Na(+)-Ca(2+) Exchanger, NCLX, in Hearts.
Title: Physiological and Pathophysiological Roles of Mitochondrial Na(+)-Ca(2+) Exchanger, NCLX, in Hearts.
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.
Dichotomous role of the human mitochondrial Na(+)/Ca2(+)/Li(+) exchanger NCLX in colorectal cancer growth and metastasis.
Title: Dichotomous role of the human mitochondrial Na(+)/Ca2(+)/Li(+) exchanger NCLX in colorectal cancer growth and metastasis.
The unique crosstalk of this exchanger with Na(+) and Ca(2+) signaling pathways in the cell membrane and the endoplasmic reticulum, and with protein kinases that posttranslationally modulate NCLX activity.
Title: Functional properties and mode of regulation of the mitochondrial Na(+)/Ca(2+) exchanger, NCLX.
mild fluctuations in mitochondrial membrane potential, which do not affect Ca(2+) influx, are sufficient to strongly regulate NCLX.
Title: Allosteric Regulation of NCLX by Mitochondrial Membrane Potential Links the Metabolic State and Ca(2+) Signaling in Mitochondria.
It has been shown that the propagation of the TRPV1-induced cytosolic calcium and sodium fluxes into mitochondria is dependent on coordinated activity of NCLX and MCU.
Title: Privileged crosstalk between TRPV1 channels and mitochondrial calcium shuttling machinery controls nociception.
Store-operated Ca(2+) entry activates a mitochondrial redox transient which is dependent on NCLX and is required for preventing Orai1 inactivation through oxidation of a critical cysteine (Cys195) in the third transmembrane helix of Orai1.
Title: Mitochondria control store-operated Ca(2+) entry through Na(+) and redox signals.

Submit: New GeneRIF Correction See all GeneRIFs (13)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

WI-18647 (e-PCR)
- UniSTS:3872

D12S1195E (e-PCR)
- UniSTS:4133

D8S2279 (e-PCR)
- UniSTS:473907

A004Q10 (e-PCR)
- UniSTS:41019

D12S1396E (e-PCR)
- UniSTS:147544

D10S16 (e-PCR)
- UniSTS:155756

RH79706 (e-PCR)
- UniSTS:84622

D12S1973 (e-PCR)
- UniSTS:12944

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables calcium:monoatomic cation antiporter activity	TAS Traceable Author Statement 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	TAS Traceable Author Statement more info
enables calcium:sodium antiporter activity involved in regulation of cardiac muscle cell membrane potential	ISS Inferred from Sequence or Structural Similarity more info
enables protein homodimerization activity	IPI Inferred from Physical Interaction more info	PubMed

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	IDA Inferred from Direct Assay more info	PubMed
involved_in glucose homeostasis	IDA Inferred from Direct Assay more info	PubMed
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 transmembrane transport	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within mitochondrial calcium ion transmembrane transport	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in mitochondrial calcium ion transmembrane transport	TAS Traceable Author Statement more info
involved_in monoatomic ion transport	TAS Traceable Author Statement more info
involved_in regulation of cardiac muscle cell membrane potential	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of cytosolic calcium ion concentration	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of insulin secretion	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of lymphocyte chemotaxis	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of store-operated calcium entry	IDA Inferred from Direct Assay more info	PubMed
involved_in sodium ion 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	IDA Inferred from Direct Assay more info	PubMed
located_in mitochondrial inner membrane	TAS Traceable Author Statement more info
located_in mitochondrial membrane	IDA Inferred from Direct Assay more info	PubMed
located_in mitochondrion	HTP more info	PubMed
located_in plasma membrane	TAS Traceable Author Statement more info
located_in sarcolemma	IEA Inferred from Electronic Annotation 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/lithium/calcium exchanger), member 6; solute carrier family 24 (sodium/potassium/calcium exchanger), member 6; solute carrier family 24 member 6; solute carrier family 8 (sodium/lithium/calcium exchanger), 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_001330466.2 → NP_001317395.1 mitochondrial sodium/calcium exchanger protein isoform 2 precursor

Status: VALIDATED

Description

Transcript Variant: This variant (2) lacks an alternate in-frame exon in the 5' coding region, compared to variant 3. The encoded isoform (2) is shorter, but has the same N- and C-termini as isoform 1.

Source sequence(s)

AI744705, AK025886, AY601760, BI834989, BX384768, CA309108

Consensus CDS

CCDS81744.1

UniProtKB/TrEMBL

B4DDJ4

Related

ENSP00000450081.1, ENST00000546737.5
NM_001358345.2 → NP_001345274.1 mitochondrial sodium/calcium exchanger protein isoform 1 precursor

Status: VALIDATED

Description

Transcript Variant: This variant (3) represents the longest transcript and encodes the longer isoform (1). Variants 1 and 3 encode the same isoform (1).

Source sequence(s)

AC010178, BM980568

Consensus CDS

CCDS31909.1

UniProtKB/Swiss-Prot

A6NP50, Q4KMS9, Q6J4K1, Q6J4K2, Q9H6I8

UniProtKB/TrEMBL

B4DDJ4

Related

ENSP00000506377.1, ENST00000680972.1

Conserved Domains (1) summary

cl27511
Location:63 → 584

Na_Ca_ex; Sodium/calcium exchanger protein
NM_024959.4 → NP_079235.2 mitochondrial sodium/calcium exchanger protein isoform 1 precursor

See identical proteins and their annotated locations for NP_079235.2

Status: VALIDATED

Description

Transcript Variant: This variant (1) differs in the 5' UTR compared to variant 3. Variants 1 and 3 encode the same isoform (1).

Source sequence(s)

AI744705, AK025886, BM560555, CA309108

Consensus CDS

CCDS31909.1

UniProtKB/Swiss-Prot

A6NP50, Q4KMS9, Q6J4K1, Q6J4K2, Q9H6I8

UniProtKB/TrEMBL

B4DDJ4

Related

ENSP00000202831.3, ENST00000202831.7

Conserved Domains (1) summary

cl27511
Location:63 → 584

Na_Ca_ex; Sodium/calcium exchanger protein

RNA

NR_152403.2 RNA Sequence

Status: VALIDATED

Description

Transcript Variant: This variant (4) uses an alternate splice site for a 5' exon, compared to variant 3. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AC010178, BM980568