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

Gene ID: 80024, updated on 7-Jun-2020

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
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

Genomic context

See SLC8B1 in Genome Data Viewer
Location:
12q24.13
Exon count:
18
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 12 NC_000012.12 (113298766..113335168, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (113736571..113772934, complement)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene two pore segment channel 1 Neighboring gene uncharacterized LOC107984436 Neighboring gene microRNA 6762 Neighboring gene uncharacterized LOC105369989 Neighboring gene phospholipase B domain containing 2 Neighboring gene serine dehydratase

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ22233

Gene Ontology Provided by GOA

Process Evidence Code Pubs
calcium export from the mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
calcium export from the mitochondrion IDA
Inferred from Direct Assay
more info
PubMed 
cation transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cellular calcium ion homeostasis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
glucose homeostasis IDA
Inferred from Direct Assay
more info
PubMed 
ion transport TAS
Traceable Author Statement
more info
 
mitochondrial calcium ion homeostasis IDA
Inferred from Direct Assay
more info
PubMed 
mitochondrial calcium ion homeostasis IMP
Inferred from Mutant Phenotype
more info
PubMed 
mitochondrial calcium ion transmembrane transport IDA
Inferred from Direct Assay
more info
PubMed 
mitochondrial calcium ion transmembrane transport IMP
Inferred from Mutant Phenotype
more info
PubMed 
mitochondrial calcium ion transmembrane transport TAS
Traceable Author Statement
more info
 
regulation of cardiac muscle cell membrane potential TAS
Traceable Author Statement
more info
PubMed 
regulation of cytosolic calcium ion concentration IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of insulin secretion IDA
Inferred from Direct Assay
more info
PubMed 
regulation of lymphocyte chemotaxis ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of store-operated calcium entry IDA
Inferred from Direct Assay
more info
PubMed 
response to stimulus IEA
Inferred from Electronic Annotation
more info
 
sodium ion transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
integral component of mitochondrial membrane IDA
Inferred from Direct Assay
more info
PubMed 
membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mitochondrial crista IDA
Inferred from Direct Assay
more info
PubMed 
mitochondrial inner membrane TAS
Traceable Author Statement
more info
 
plasma membrane TAS
Traceable Author Statement
more info
 
sarcolemma IEA
Inferred from Electronic Annotation
more info
 

General protein information

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)

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)

  1. NM_001330466.2NP_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/Swiss-Prot
    Q6J4K2
    Related
    ENSP00000450081.1, ENST00000546737.5
  2. NM_001358345.2NP_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
    Related
    ENSP00000447091.1, ENST00000552014.5
    Conserved Domains (1) summary
    cl27511
    Location:63584
    Na_Ca_ex; Sodium/calcium exchanger protein
  3. NM_024959.3NP_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)
    AC010178, AI744705, AK025886, BM560555, CA309108
    Consensus CDS
    CCDS31909.1
    UniProtKB/Swiss-Prot
    Q6J4K2
    Related
    ENSP00000202831.3, ENST00000202831.7
    Conserved Domains (1) summary
    cl27511
    Location:63584
    Na_Ca_ex; Sodium/calcium exchanger protein

RNA

  1. 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

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p13 Primary Assembly

    Range
    113298766..113335168 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011538752.2XP_011537054.1  mitochondrial sodium/calcium exchanger protein isoform X2

    See identical proteins and their annotated locations for XP_011537054.1

    UniProtKB/Swiss-Prot
    Q6J4K2
    Conserved Domains (2) summary
    PLN03151
    Location:5389
    PLN03151; cation/calcium exchanger; Provisional
    pfam01699
    Location:226378
    Na_Ca_ex; Sodium/calcium exchanger protein
  2. XM_017019978.2XP_016875467.1  mitochondrial sodium/calcium exchanger protein isoform X1

    Related
    ENST00000553238.5
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