• Gene id: 6546

Gene Summary

• Gene Symbol: SLC8A1   Gene   UCSC   Ensembl
• Aliases: NCX1
• Gene name: solute carrier family 8 member A1
• Alternate names: sodium/calcium exchanger 1, 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,
• Gene location: 2p22.1 (40512451: 40094522)     Exons: 20     NC_000002.12
• Gene summary(Entrez): 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,
• OMIM: 182305

Protein Summary

• Protein general information: P32418  
  • Name: Sodium/calcium exchanger 1 (Na(+)/Ca(2+) exchange protein 1) (Solute carrier family 8 member 1)
  • Length: 973  
  • Mass: 108547
  • Tissue specificity: Detected primarily in heart and at lower levels in brain (PubMed
• Sequence:

  MYNMRRLSLSPTFSMGFHLLVTVSLLFSHVDHVIAETEMEGEGNETGECTGSYYCKKGVILPIWEPQDPSFGDKI
  ARATVYFVAMVYMFLGVSIIADRFMSSIEVITSQEKEITIKKPNGETTKTTVRIWNETVSNLTLMALGSSAPEIL
  LSVIEVCGHNFTAGDLGPSTIVGSAAFNMFIIIALCVYVVPDGETRKIKHLRVFFVTAAWSIFAYTWLYIILSVI
  SPGVVEVWEGLLTFFFFPICVVFAWVADRRLLFYKYVYKRYRAGKQRGMIIEHEGDRPSSKTEIEMDGKVVNSHV
  ENFLDGALVLEVDERDQDDEEARREMARILKELKQKHPDKEIEQLIELANYQVLSQQQKSRAFYRIQATRLMTGA
  GNILKRHAADQARKAVSMHEVNTEVTENDPVSKIFFEQGTYQCLENCGTVALTIIRRGGDLTNTVFVDFRTEDGT
  ANAGSDYEFTEGTVVFKPGDTQKEIRVGIIDDDIFEEDENFLVHLSNVKVSSEASEDGILEANHVSTLACLGSPS
  TATVTIFDDDHAGIFTFEEPVTHVSESIGIMEVKVLRTSGARGNVIVPYKTIEGTARGGGEDFEDTCGELEFQND
  EIVKTISVKVIDDEEYEKNKTFFLEIGEPRLVEMSEKKALLLNELGGFTITGKYLFGQPVFRKVHAREHPILSTV
  ITIADEYDDKQPLTSKEEEERRIAEMGRPILGEHTKLEVIIEESYEFKSTVDKLIKKTNLALVVGTNSWREQFIE
  AITVSAGEDDDDDECGEEKLPSCFDYVMHFLTVFWKVLFAFVPPTEYWNGWACFIVSILMIGLLTAFIGDLASHF
  GCTIGLKDSVTAVVFVALGTSVPDTFASKVAATQDQYADASIGNVTGSNAVNVFLGIGVAWSIAAIYHAANGEQF
  KVSPGTLAFSVTLFTIFAFINVGVLLYRRRPEIGGELGGPRTAKLLTSCLFVLLWLLYIFFSSLEAYCHIKGF

• Structural information:
  • Protein Domains: (396..49-)
    (/note="Calx-beta-1)
    (527..62-)
    (/note="Calx-beta-2")
  • Interpro: IPR038081  IPR003644  IPR001623  IPR004836  IPR032452   IPR002987  IPR004837  
  • DIP: 48356
  • STRING: ENSP00000384763
• Other Databases: GeneCards:  SLC8A1  Malacards:  SLC8A1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0071944	cell periphery	IDA	cellular component
GO:0005516	calmodulin binding	IDA	molecular function
GO:0005886	plasma membrane	IDA	cellular component
GO:0045202	synapse	IDA	cellular component
GO:0006874	cellular calcium ion homeostasis	ISS	biological process
GO:0030424	axon	ISS	cellular component
GO:0030425	dendrite	ISS	cellular component
GO:0043679	axon terminus	ISS	cellular component
GO:0014069	postsynaptic density	ISS	cellular component
GO:0045202	synapse	ISS	cellular component
GO:0043025	neuronal cell body	ISS	cellular component
GO:0010468	regulation of gene expression	ISS	biological process
GO:0071901	negative regulation of protein serine/threonine kinase activity	ISS	biological process
GO:0070588	calcium ion transmembrane transport	ISS	biological process
GO:0005509	calcium ion binding	ISS	molecular function
GO:0006816	calcium ion transport	IEA	biological process
GO:0007154	cell communication	IEA	biological process
GO:0005432	calcium:sodium antiporter activity	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0055085	transmembrane transport	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0015297	antiporter activity	IEA	molecular function
GO:0006814	sodium ion transport	IEA	biological process
GO:0006816	calcium ion transport	IEA	biological process
GO:0005516	calmodulin binding	IEA	molecular function
GO:0006811	ion transport	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0006936	muscle contraction	TAS	biological process
GO:0005886	plasma membrane	TAS	cellular component
GO:0006811	ion transport	TAS	biological process
GO:1903779	regulation of cardiac conduction	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0099055	integral component of postsynaptic membrane	IEA	cellular component
GO:0098719	sodium ion import across plasma membrane	IEA	biological process
GO:0071456	cellular response to hypoxia	IEA	biological process
GO:0071320	cellular response to cAMP	IEA	biological process
GO:0070509	calcium ion import	IEA	biological process
GO:0051924	regulation of calcium ion transport	IEA	biological process
GO:0042995	cell projection	IEA	cellular component
GO:0036376	sodium ion export across plasma membrane	IEA	biological process
GO:0030425	dendrite	IEA	cellular component
GO:0030424	axon	IEA	cellular component
GO:0030315	T-tubule	IEA	cellular component
GO:0021537	telencephalon development	IEA	biological process
GO:0014704	intercalated disc	IEA	cellular component
GO:0010881	regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion	IEA	biological process
GO:0009749	response to glucose	IEA	biological process
GO:0007584	response to nutrient	IEA	biological process
GO:0006874	cellular calcium ion homeostasis	IEA	biological process
GO:0006814	sodium ion transport	IEA	biological process
GO:0002028	regulation of sodium ion transport	IEA	biological process
GO:0001666	response to hypoxia	IEA	biological process
GO:1905060	calcium:cation antiporter activity involved in regulation of postsynaptic cytosolic calcium ion concentration	IEA	molecular function
GO:0099580	ion antiporter activity involved in regulation of postsynaptic membrane potential	IEA	molecular function
GO:0086064	cell communication by electrical coupling involved in cardiac conduction	IEA	biological process
GO:0070588	calcium ion transmembrane transport	IEA	biological process
GO:0060402	calcium ion transport into cytosol	IEA	biological process
GO:0045211	postsynaptic membrane	IEA	cellular component
GO:0043198	dendritic shaft	IEA	cellular component
GO:0043197	dendritic spine	IEA	cellular component
GO:0043025	neuronal cell body	IEA	cellular component
GO:0042542	response to hydrogen peroxide	IEA	biological process
GO:0042493	response to drug	IEA	biological process
GO:0042383	sarcolemma	IEA	cellular component
GO:0035902	response to immobilization stress	IEA	biological process
GO:0033198	response to ATP	IEA	biological process
GO:0030018	Z disc	IEA	cellular component
GO:0010763	positive regulation of fibroblast migration	IEA	biological process
GO:0007204	positive regulation of cytosolic calcium ion concentration	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0005874	microtubule	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0005432	calcium:sodium antiporter activity	IEA	molecular function
GO:0006883	cellular sodium ion homeostasis	IDA	biological process
GO:0086012	membrane depolarization during cardiac muscle cell action potential	TAS	biological process
GO:0010881	regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion	TAS	biological process
GO:0008092	cytoskeletal protein binding	IDA	molecular function
GO:0010882	regulation of cardiac muscle contraction by calcium ion signaling	TAS	biological process
GO:0005432	calcium:sodium antiporter activity	IDA	molecular function
GO:0044325	ion channel binding	ISS	molecular function
GO:0030506	ankyrin binding	ISS	molecular function
GO:0030506	ankyrin binding	IPI	molecular function
GO:0060048	cardiac muscle contraction	TAS	biological process
GO:0055119	relaxation of cardiac muscle	TAS	biological process
GO:0098735	positive regulation of the force of heart contraction	IMP	biological process
GO:0035994	response to muscle stretch	IMP	biological process
GO:0030315	T-tubule	TAS	cellular component
GO:0014704	intercalated disc	TAS	cellular component
GO:0070509	calcium ion import	IDA	biological process
GO:0098719	sodium ion import across plasma membrane	IDA	biological process
GO:0010649	regulation of cell communication by electrical coupling	TAS	biological process
GO:0010881	regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion	ISS	biological process
GO:0014704	intercalated disc	ISS	cellular component
GO:0014829	vascular smooth muscle contraction	ISS	biological process
GO:0030315	T-tubule	ISS	cellular component
GO:0044557	relaxation of smooth muscle	ISS	biological process
GO:0055013	cardiac muscle cell development	ISS	biological process
GO:0055074	calcium ion homeostasis	ISS	biological process
GO:0055074	calcium ion homeostasis	ISS	biological process
GO:0002026	regulation of the force of heart contraction	IC	biological process
GO:0005887	integral component of plasma membrane	IDA	cellular component
GO:0055119	relaxation of cardiac muscle	IC	biological process
GO:0002026	regulation of the force of heart contraction	ISS	biological process
GO:0002027	regulation of heart rate	ISS	biological process
GO:0005886	plasma membrane	TAS	cellular component
GO:0030018	Z disc	ISS	cellular component
GO:0030018	Z disc	ISS	cellular component
GO:0042383	sarcolemma	ISS	cellular component
GO:0042383	sarcolemma	ISS	cellular component
GO:0051481	negative regulation of cytosolic calcium ion concentration	ISS	biological process
GO:0060401	cytosolic calcium ion transport	TAS	biological process
GO:0060402	calcium ion transport into cytosol	ISS	biological process
GO:0071313	cellular response to caffeine	ISS	biological process
GO:0086064	cell communication by electrical coupling involved in cardiac conduction	ISS	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0099566	regulation of postsynaptic cytosolic calcium ion concentration	IEA	biological process
GO:0035725	sodium ion transmembrane transport	IGI	biological process
GO:0005432	calcium:sodium antiporter activity	IMP	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0070588	calcium ion transmembrane transport	IGI	biological process
GO:0035725	sodium ion transmembrane transport	IMP	biological process
GO:0030501	positive regulation of bone mineralization	IMP	biological process

KEGG pathways

Pathway id	Pathway name
hsa04020	Calcium signaling pathway
hsa04022	cGMP-PKG signaling pathway
hsa04261	Adrenergic signaling in cardiomyocytes
hsa04740	Olfactory transduction
hsa04371	Apelin signaling pathway
hsa04974	Protein digestion and absorption
hsa04260	Cardiac muscle contraction
hsa05414	Dilated cardiomyopathy
hsa05410	Hypertrophic cardiomyopathy
hsa05412	Arrhythmogenic right ventricular cardiomyopathy
hsa04978	Mineral absorption
hsa04961	Endocrine and other factor-regulated calcium reabsorption

Diseases

Associated diseases	References
Alzheimer's disease	PMID:21382638
Hypertension	PMID:15824464
Pulmonary hypertension	PMID:17192285
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R