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SLC8A1 solute carrier family 8 member A1 [ Homo sapiens (human) ]

Gene ID: 6546, updated on 13-May-2022

Summary

Official Symbol
SLC8A1provided by HGNC
Official Full Name
solute carrier family 8 member A1provided by HGNC
Primary source
HGNC:HGNC:11068
See related
Ensembl:ENSG00000183023 MIM:182305; AllianceGenome:HGNC:11068
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
NCX1
Summary
In cardiac myocytes, Ca(2+) concentrations alternate between high levels during contraction and low levels during relaxation. The increase in Ca(2+) concentration during contraction is primarily due to release of Ca(2+) from intracellular stores. However, some Ca(2+) also enters the cell through the sarcolemma (plasma membrane). During relaxation, Ca(2+) is sequestered within the intracellular stores. To prevent overloading of intracellular stores, the Ca(2+) that entered across the sarcolemma must be extruded from the cell. The Na(+)-Ca(2+) exchanger is the primary mechanism by which the Ca(2+) is extruded from the cell during relaxation. In the heart, the exchanger may play a key role in digitalis action. The exchanger is the dominant mechanism in returning the cardiac myocyte to its resting state following excitation.[supplied by OMIM, Apr 2004]
Expression
Broad expression in heart (RPKM 35.6), endometrium (RPKM 9.9) and 16 other tissues See more
Orthologs
NEW
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Genomic context

See SLC8A1 in Genome Data Viewer
Location:
2p22.1
Exon count:
16
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (40097270..40512435, complement)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (40106262..40521419, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (40324410..40739575, complement)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene zinc finger protein 19 pseudogene Neighboring gene SLC8A1 antisense RNA 1 Neighboring gene Sharpr-MPRA regulatory region 6978 Neighboring gene peptidyl-prolyl cis-trans isomerase NIMA-interacting 4-like Neighboring gene Sharpr-MPRA regulatory region 14225 Neighboring gene uncharacterized LOC101929667 Neighboring gene uncharacterized LOC105374473 Neighboring gene uncharacterized LOC105374475

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?

Phenotypes

EBI GWAS Catalog

Description
A Common variant in RAB27A gene is associated with fractional exhaled nitric oxide levels in adults.
EBI GWAS Catalog
A common variant in SLC8A1 is associated with the duration of the electrocardiographic QT interval.
EBI GWAS Catalog
A genome-wide association study in the genetic analysis of idiopathic thrombophilia project suggests sex-specific regulation of mitochondrial DNA levels.
EBI GWAS Catalog
Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization.
EBI GWAS Catalog
Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.
EBI GWAS Catalog
Genome-wide association study of electrocardiographic parameters identifies a new association for PR interval and confirms previously reported associations.
EBI GWAS Catalog
Genome-wide association study of neurocognitive impairment and dementia in HIV-infected adults.
EBI GWAS Catalog
Genome-wide SNP and CNV analysis identifies common and low-frequency variants associated with severe early-onset obesity.
EBI GWAS Catalog
Genome-wide SNP associations with rubella-specific cytokine responses in measles-mumps-rubella vaccine recipients.
EBI GWAS Catalog
Identification of three novel genetic variations associated with electrocardiographic traits (QRS duration and PR interval) in East Asians.
EBI GWAS Catalog
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
EBI GWAS Catalog

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ37694, FLJ43417, MGC119581, DKFZp779F0871

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables ankyrin binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables ankyrin binding ISS
Inferred from Sequence or Structural Similarity
more info
 
enables calcium ion binding ISS
Inferred from Sequence or Structural Similarity
more info
 
enables calcium:cation antiporter activity involved in regulation of postsynaptic cytosolic calcium ion concentration IEA
Inferred from Electronic Annotation
more info
 
enables calcium:sodium antiporter activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 calmodulin binding IDA
Inferred from Direct Assay
more info
PubMed 
enables cation:cation antiporter activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables cytoskeletal protein binding IDA
Inferred from Direct Assay
more info
PubMed 
enables ion antiporter activity involved in regulation of postsynaptic membrane potential IEA
Inferred from Electronic Annotation
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables transmembrane transporter binding ISS
Inferred from Sequence or Structural Similarity
more info
 
Process Evidence Code Pubs
involved_in calcium ion homeostasis ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in calcium ion import IDA
Inferred from Direct Assay
more info
PubMed 
involved_in calcium ion import across plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in calcium ion transmembrane import into cytosol TAS
Traceable Author Statement
more info
PubMed 
involved_in calcium ion transmembrane transport IGI
Inferred from Genetic Interaction
more info
PubMed 
involved_in calcium ion transmembrane transport ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in calcium ion transport into cytosol ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in cardiac muscle cell development ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in cardiac muscle contraction TAS
Traceable Author Statement
more info
PubMed 
involved_in cell communication by electrical coupling involved in cardiac conduction ISS
Inferred from Sequence or Structural Similarity
more info
 
acts_upstream_of_or_within cellular calcium ion homeostasis ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in cellular response to cAMP IEA
Inferred from Electronic Annotation
more info
 
involved_in cellular response to caffeine ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in cellular response to hypoxia IEA
Inferred from Electronic Annotation
more info
 
involved_in cellular sodium ion homeostasis IDA
Inferred from Direct Assay
more info
PubMed 
involved_in ion transport TAS
Traceable Author Statement
more info
 
involved_in membrane depolarization during cardiac muscle cell action potential TAS
Traceable Author Statement
more info
PubMed 
involved_in metal ion transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in muscle contraction TAS
Traceable Author Statement
more info
PubMed 
involved_in negative regulation of cytosolic calcium ion concentration ISS
Inferred from Sequence or Structural Similarity
more info
 
acts_upstream_of_or_within negative regulation of protein serine/threonine kinase activity ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in positive regulation of bone mineralization IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in positive regulation of fibroblast migration IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of the force of heart contraction IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in regulation of cardiac conduction TAS
Traceable Author Statement
more info
 
involved_in regulation of cardiac muscle contraction by calcium ion signaling TAS
Traceable Author Statement
more info
PubMed 
involved_in regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion TAS
Traceable Author Statement
more info
PubMed 
involved_in regulation of cell communication by electrical coupling TAS
Traceable Author Statement
more info
PubMed 
acts_upstream_of_or_within regulation of gene expression ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in regulation of heart rate ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in regulation of postsynaptic cytosolic calcium ion concentration IEA
Inferred from Electronic Annotation
more info
 
involved_in regulation of sodium ion transport IEA
Inferred from Electronic Annotation
more info
 
involved_in regulation of the force of heart contraction IC
Inferred by Curator
more info
PubMed 
involved_in regulation of the force of heart contraction ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in relaxation of cardiac muscle IC
Inferred by Curator
more info
PubMed 
involved_in relaxation of cardiac muscle TAS
Traceable Author Statement
more info
PubMed 
involved_in relaxation of smooth muscle ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in response to ATP IEA
Inferred from Electronic Annotation
more info
 
involved_in response to glucose IEA
Inferred from Electronic Annotation
more info
 
involved_in response to hydrogen peroxide IEA
Inferred from Electronic Annotation
more info
 
involved_in response to immobilization stress IEA
Inferred from Electronic Annotation
more info
 
involved_in response to muscle stretch IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in response to nutrient IEA
Inferred from Electronic Annotation
more info
 
involved_in response to xenobiotic stimulus IEA
Inferred from Electronic Annotation
more info
 
involved_in sodium ion export across plasma membrane IEA
Inferred from Electronic Annotation
more info
 
involved_in sodium ion import across plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
involved_in sodium ion transmembrane transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in sodium ion transmembrane transport IGI
Inferred from Genetic Interaction
more info
PubMed 
involved_in sodium ion transmembrane transport IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in telencephalon development IEA
Inferred from Electronic Annotation
more info
 
involved_in vascular associated smooth muscle contraction ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
located_in T-tubule ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in T-tubule TAS
Traceable Author Statement
more info
PubMed 
located_in Z disc ISS
Inferred from Sequence or Structural Similarity
more info
 
is_active_in axon IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in axon ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in axon terminus ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in cell periphery IDA
Inferred from Direct Assay
more info
PubMed 
located_in dendrite ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in dendritic shaft IEA
Inferred from Electronic Annotation
more info
 
located_in dendritic spine IEA
Inferred from Electronic Annotation
more info
 
is_active_in integral component of plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in integral component of plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in integral component of postsynaptic membrane IEA
Inferred from Electronic Annotation
more info
 
located_in intercalated disc ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in intercalated disc TAS
Traceable Author Statement
more info
PubMed 
is_active_in membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in microtubule IEA
Inferred from Electronic Annotation
more info
 
located_in mitochondrion IEA
Inferred from Electronic Annotation
more info
 
located_in neuronal cell body ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
 
located_in plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in plasma membrane TAS
Traceable Author Statement
more info
PubMed 
is_active_in postsynapse IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in postsynaptic density ISS
Inferred from Sequence or Structural Similarity
more info
 
is_active_in sarcolemma IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in sarcolemma ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in synapse IDA
Inferred from Direct Assay
more info
PubMed 
located_in synapse ISS
Inferred from Sequence or Structural Similarity
more info
 

General protein information

Preferred Names
sodium/calcium exchanger 1
Names
Na(+)/Ca(2+)-exchange protein 1
Na+/Ca++ exchanger
Na+/Ca2+ exchanger
solute carrier family 8 (sodium/calcium exchanger), member 1
solute carrier family 8 member 1

NCBI Reference Sequences (RefSeq)

NEW Try the new Transcript table

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_001112800.4NP_001106271.1  sodium/calcium exchanger 1 isoform B precursor

    Status: VALIDATED

    Source sequence(s)
    AC007254, AC007281, AC007377, AC007877, AC106048
    Consensus CDS
    CCDS46265.1
    UniProtKB/Swiss-Prot
    P32418
    UniProtKB/TrEMBL
    Q4QQH3
    Related
    ENSP00000385678.3, ENST00000405901.7
    Conserved Domains (1) summary
    TIGR00845
    Location:4968
    caca; sodium/calcium exchanger 1
  2. NM_001112801.3NP_001106272.1  sodium/calcium exchanger 1 isoform C precursor

    See identical proteins and their annotated locations for NP_001106272.1

    Status: VALIDATED

    Source sequence(s)
    AC007254, AC007281, AC007377, AC007877, AC106048
    UniProtKB/Swiss-Prot
    P32418
    Conserved Domains (5) summary
    smart00237
    Location:537627
    Calx_beta; Domains in Na-Ca exchangers and integrin-beta4
    TIGR00845
    Location:4960
    caca; sodium/calcium exchanger 1
    pfam01699
    Location:787951
    Na_Ca_ex; Sodium/calcium exchanger protein
    pfam03160
    Location:406496
    Calx-beta; Calx-beta domain
    pfam16494
    Location:254384
    Na_Ca_ex_C; C-terminal extension of sodium/calcium exchanger domain
  3. NM_001112802.2NP_001106273.1  sodium/calcium exchanger 1 isoform D precursor

    See identical proteins and their annotated locations for NP_001106273.1

    Status: VALIDATED

    Source sequence(s)
    AC007254, AK291696
    Consensus CDS
    CCDS46264.1
    UniProtKB/Swiss-Prot
    P32418
    Related
    ENSP00000385188.1, ENST00000402441.5
    Conserved Domains (1) summary
    TIGR00845
    Location:4937
    caca; sodium/calcium exchanger 1
  4. NM_001252624.2NP_001239553.1  sodium/calcium exchanger 1 isoform E precursor

    Status: VALIDATED

    Source sequence(s)
    AC007254, AC007281, AC007377
    Consensus CDS
    CCDS59430.1
    UniProtKB/Swiss-Prot
    P32418
    Related
    ENSP00000384908.2, ENST00000408028.6
    Conserved Domains (1) summary
    TIGR00845
    Location:4965
    caca; sodium/calcium exchanger 1
  5. NM_001351483.2NP_001338412.1  sodium/calcium exchanger 1 isoform F precursor

    Status: VALIDATED

    Source sequence(s)
    AC007254, AC007281, AC007377, AC007877, AC106048
    Conserved Domains (1) summary
    TIGR00845
    Location:4945
    caca; sodium/calcium exchanger 1
  6. NM_001351484.2NP_001338413.1  sodium/calcium exchanger 1 isoform F precursor

    Status: VALIDATED

    Source sequence(s)
    AC007254, AC007281, AC007377, AC007877, AC106048
    Conserved Domains (1) summary
    TIGR00845
    Location:4945
    caca; sodium/calcium exchanger 1
  7. NM_001351485.2NP_001338414.1  sodium/calcium exchanger 1 isoform F precursor

    Status: VALIDATED

    Source sequence(s)
    AC007254, AC007281, AC007377, AC106048
    Conserved Domains (1) summary
    TIGR00845
    Location:4945
    caca; sodium/calcium exchanger 1
  8. NM_001351486.2NP_001338415.1  sodium/calcium exchanger 1 isoform G precursor

    Status: VALIDATED

    Source sequence(s)
    AC007254, AC007281, AC007377, AC007877, AC106048
    Conserved Domains (1) summary
    TIGR00845
    Location:4944
    caca; sodium/calcium exchanger 1
  9. NM_001351487.2NP_001338416.1  sodium/calcium exchanger 1 isoform H precursor

    Status: VALIDATED

    Source sequence(s)
    AC007254, AC007281, AC007377, AC007877, AC106048
    Conserved Domains (1) summary
    TIGR00845
    Location:4961
    caca; sodium/calcium exchanger 1
  10. NM_001351488.2NP_001338417.1  sodium/calcium exchanger 1 isoform H precursor

    Status: VALIDATED

    Source sequence(s)
    AC007254, AC007281, AC007377, AC106048
    Conserved Domains (1) summary
    TIGR00845
    Location:4961
    caca; sodium/calcium exchanger 1
  11. NM_001351489.2NP_001338418.1  sodium/calcium exchanger 1 isoform H precursor

    Status: VALIDATED

    Source sequence(s)
    AC007254, AC007281, AC007377, AC106048
    Conserved Domains (1) summary
    TIGR00845
    Location:4961
    caca; sodium/calcium exchanger 1
  12. NM_001351490.2NP_001338419.1  sodium/calcium exchanger 1 isoform I precursor

    Status: VALIDATED

    Source sequence(s)
    AC007254, AC007281, AC007377, AC007877, AC106048
    Conserved Domains (1) summary
    TIGR00845
    Location:4938
    caca; sodium/calcium exchanger 1
  13. NM_001351491.2NP_001338420.1  sodium/calcium exchanger 1 isoform I precursor

    Status: VALIDATED

    Source sequence(s)
    AC007254, AC007281, AC007377, AC007877, AC106048
    Conserved Domains (1) summary
    TIGR00845
    Location:4938
    caca; sodium/calcium exchanger 1
  14. NM_001351492.2NP_001338421.1  sodium/calcium exchanger 1 isoform I precursor

    Status: VALIDATED

    Source sequence(s)
    AC007254, AC007281, AC007377, AC106048
    Conserved Domains (1) summary
    TIGR00845
    Location:4938
    caca; sodium/calcium exchanger 1
  15. NM_001351493.2NP_001338422.1  sodium/calcium exchanger 1 isoform E precursor

    Status: VALIDATED

    Source sequence(s)
    AC007254, AC007281, AC007377, AC007877, AC106048
    Consensus CDS
    CCDS59430.1
    Conserved Domains (1) summary
    TIGR00845
    Location:4965
    caca; sodium/calcium exchanger 1
  16. NM_001351494.2NP_001338423.1  sodium/calcium exchanger 1 isoform D precursor

    Status: VALIDATED

    Source sequence(s)
    AC007254, AC007281, AC007377, AC007877, AC106048
    Consensus CDS
    CCDS46264.1
    Related
    ENSP00000383886.1, ENST00000406785.6
    Conserved Domains (1) summary
    TIGR00845
    Location:4937
    caca; sodium/calcium exchanger 1
  17. NM_001372263.2NP_001359192.1  sodium/calcium exchanger 1 isoform A precursor

    Status: VALIDATED

    Source sequence(s)
    AC007254, AC007281, AC007377, AC007877
    Related
    ENSP00000384763.1, ENST00000403092.5
    Conserved Domains (1) summary
    TIGR00845
    Location:4973
    caca; sodium/calcium exchanger 1
  18. NM_001394103.1NP_001381032.1  sodium/calcium exchanger 1 isoform A precursor

    Status: VALIDATED

    Source sequence(s)
    AC007254, AC007281, AC007377, AC007877
    Conserved Domains (1) summary
    TIGR00845
    Location:4973
    caca; sodium/calcium exchanger 1
  19. NM_001394104.1NP_001381033.1  sodium/calcium exchanger 1 isoform B precursor

    Status: VALIDATED

    Source sequence(s)
    AC007254, AC007281, AC007377, AC106048
    Conserved Domains (1) summary
    TIGR00845
    Location:4968
    caca; sodium/calcium exchanger 1
  20. NM_001394105.1NP_001381034.1  sodium/calcium exchanger 1 isoform H precursor

    Status: VALIDATED

    Source sequence(s)
    AC007254, AC007281, AC007377, AC007877, AC106048
    Conserved Domains (1) summary
    TIGR00845
    Location:4961
    caca; sodium/calcium exchanger 1
  21. NM_001394106.1NP_001381035.1  sodium/calcium exchanger 1 isoform D precursor

    Status: VALIDATED

    Source sequence(s)
    AC007254, AC007281, AC007377, AC007877, AC106048
    Conserved Domains (1) summary
    TIGR00845
    Location:4937
    caca; sodium/calcium exchanger 1
  22. NM_001394107.1NP_001381036.1  sodium/calcium exchanger 1 isoform D precursor

    Status: VALIDATED

    Source sequence(s)
    AC007254, AC007281, AC007377, AC106048
    Conserved Domains (1) summary
    TIGR00845
    Location:4937
    caca; sodium/calcium exchanger 1
  23. NM_021097.5NP_066920.1  sodium/calcium exchanger 1 isoform A precursor

    See identical proteins and their annotated locations for NP_066920.1

    Status: VALIDATED

    Source sequence(s)
    AC007254, AC007281, AC007377, AC007877, AC106048
    Consensus CDS
    CCDS1806.1
    UniProtKB/Swiss-Prot
    P32418
    Related
    ENSP00000332931.4, ENST00000332839.9
    Conserved Domains (1) summary
    TIGR00845
    Location:4973
    caca; sodium/calcium exchanger 1

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

    Range
    40097270..40512435 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    40106262..40521419 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)