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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

SLC8A1 Gene

protein-coding GIFtS: 68
GCID: GC02M040339

solute carrier family 8 (sodium/calcium exchanger), member...

(Previous symbol: NCX1)

Explore 20 diseases affiliated with
SLC8A1 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Solute Carrier Family 8 (Sodium/Calcium Exchanger), Member 1¹ ²		Na+/Ca2+ Exchanger²
NCX1¹ ² ³ ⁵		Sodium/Calcium Exchanger 1²
Na(+)/Ca(2+)-Exchange Protein 1² ³		CNC³
Na+/Ca++ Exchanger²

External Ids:	HGNC: 11068¹	Entrez Gene: 6546²	Ensembl: ENSG00000183023⁷	OMIM: 182305⁵	UniProtKB: P32418³

Export aliases for SLC8A1 gene to outside databases

Previous GC identifers: GC02M040318 GC02M040500 GC02M040316 GC02M040253 GC02M040078

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for SLC8A1:

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)

UniProtKB/Swiss-Prot: NAC1_HUMAN, P32418

Function: Rapidly transports Ca(2+) during excitation-contraction coupling. Ca(2+) is extruded from the cell during

relaxation so as to prevent overloading of intracellular stores

summary for SLC8A1:

The Na+/Ca2+ exchanger (NCX) is a low affinity, high capacitance calcium antiporter membrane protein that

functions to regulate intracellular calcium concentrations. It is located on the plasma, mitochondrial and

endoplasmic reticular membranes of excitable cells. Using the electrochemical gradient of Na+, one Ca2+ ion

is transported in exchange for three Na+ ions. The Na+/Ca2+ exchanger compliments the high affinity, low

capacitance Ca2+-ATPase and together, they are involved in a variety of cellular functions including control

of neurosecretion, relaxation of cardiac muscle, maintenance of intracellular Ca2+ stores in the endoplasmic

and sarcoplasmic reticuli and excitation-relaxation coupling. Under normal physiological conditions,

Na+/Ca2+ exchangers export Ca+ from the cell. However, under cellular stress, such as excitotoxicity, they

can switch to 'reverse mode', which has a protective effect.

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000002.11 NC_018913.1 NT_022184.15

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the SLC8A1 gene promoter:
FOXD3 MyoD E47 CREB Ik-2 deltaCREB Hand1 Sox9 Msx-1 ITF-2
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: SLC8A1 promoter sequence

Search SABiosciences Chromatin IP Primers for SLC8A1

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SLC8A1

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 2p23-p22 Ensembl cytogenetic band: 2p22.1 HGNC cytogenetic band: 2p23-p22

SLC8A1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SLC8A1 gene location

GeneLoc information about chromosome 2 GeneLoc Exon Structure

GeneLoc location for GC02M040339: view genomic region (about GC identifiers)

Start:	40,339,286 bp from pter	End:	40,838,193 bp from pter
Size:	498,908 bases	Orientation:	minus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: NAC1_HUMAN, P32418 (See protein sequence)

Recommended Name: Sodium/calcium exchanger 1 precursor

Size: 973 amino acids; 108547 Da

Subcellular location: Cell membrane; Multi-pass membrane protein

Secondary accessions: A8K6N1 D6W595 O95849 Q587I6 Q9UBL8 Q9UD55 Q9UDN1 Q9UDN2 Q9UKX6

Alternative splicing: 4 isoforms: P32418-1 P32418-2 P32418-3 P32418-4

Explore the universe of human proteins at neXtProt for SLC8A1: NX_P32418

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_P32418

SLC8A1 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (5 alternative transcripts):

NP_001106271.1 NP_001106272.1 NP_001106273.1 NP_001239553.1 NP_066920.1

ENSEMBL proteins:

ENSP00000383886 ENSP00000386116 ENSP00000384763 ENSP00000385678 ENSP00000385188

ENSP00000385535 ENSP00000389330 ENSP00000398575 ENSP00000412560 ENSP00000440727

ENSP00000332931 ENSP00000384908 ENSP00000385811 ENSP00000443515

Reactome Protein details: P32418
Human Recombinant Protein Products:

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	Uscn Proteins for SLC8A1

Gene Ontology (GO): 5/13 cellular component terms (GO ID links to tree view) (see all 13): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005624	membrane fraction	--	--
GO:0005739	mitochondrion	IEA	--
GO:0005874	microtubule	IEA	--
GO:0005886	plasma membrane	TAS	19095005
GO:0005887	integral to plasma membrane	IDA	1374913

SLC8A1 for ontologies About GeneDecksing

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	Uscn ELISAs and CLIAs for SLC8A1

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

SLC8A1 for domains About GeneDecksing

5 InterPro domains/families:

IPR001623 DnaJ_domain

IPR003644 Calx_beta

IPR004837 NaCa_Exmemb

IPR004836 Na_Ca_Ex

IPR002987 NaCa_exhngr1

Graphical View of Domain Structure for InterPro Entry P32418

ProtoNet protein and cluster: P32418

4 Blocks protein families:

IPB002987 Na+/Ca2+ exchanger isoform 1 signature

IPB003644 Na-Ca exchanger/integrin-beta4

IPB004836 Na+/Ca2+ exchanger signature

IPB004837 Sodium/calcium exchanger membrane region

UniProtKB/Swiss-Prot: NAC1_HUMAN, P32418

Similarity: Belongs to the sodium/potassium/calcium exchanger family. SLC8 subfamily

Similarity: Contains 2 Calx-beta domains

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: NAC1_HUMAN, P32418

Function: Rapidly transports Ca(2+) during excitation-contraction coupling. Ca(2+) is extruded from the cell during

relaxation so as to prevent overloading of intracellular stores

Enzyme regulation: By ATP

Genatlas biochemistry entry for SLC8A1:

solute carrier family 8 (sodium-calcium exchange),member 1,cardiac,expressed in sarcolemma

miRNA Products:		OriGene 3'-UTR Clone (see all 4): SLC8A1 Browse MicroRNA Expression Plasmids
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		Search LifeMap BioReagents cell lines for SLC8A1

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SLC8A1

Gene Ontology (GO): 5/8 molecular function terms (GO ID links to tree view) (see all 8): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005432	calcium:sodium antiporter activity	IDA	19481548
GO:0005515	protein binding	--	--
GO:0005516	calmodulin binding	IEA	--
GO:0008092	cytoskeletal protein binding	IDA	16292983
GO:0030506	ankyrin binding	ISS	--

SLC8A1 for ontologies About GeneDecksing

1 GenomeRNAi human phenotype for SLC8A1:

Increased homologous recombina

Animal Models:
Mouse knock-outs for SLC8A1: Slc8a1^tm2Kdp Slc8a1^tm1Hssh Slc8a1^tm1Yin
10 MGI mutant phenotypes (inferred from 7 alleles) (MGI details for Slc8a1):

cardiovascular system	cellular	craniofacial	digestive/alimentary	embryogenesis
endocrine/exocrine gland	growth/size	homeostasis/metabolism	mortality/aging	muscle

SLC8A1 for phenotypes About GeneDecksing

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways - 5/18 super-pathways (see all 18) About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Platelet calcium homeostasis

Platelet calcium homeostasis

1.00

Reduction of cytosolic Ca++ levels

0.53

SLC-mediated transmembrane transport

SLC-mediated transmembrane transport

1.00

Transmembrane transport of small molecules

0.50

Sodium-coupled transporters and pumps

Sodium-coupled transporters and pumps

1.00

Sodium/Calcium exchangers

0.30

Signal transduction Calcium signaling

Signal transduction Calcium signaling

1.00

Signal transduction_Calcium signaling

0.97

Arrhythmogenic right ventricular cardiomyopathy (ARVC)

Arrhythmogenic right ventricular cardiomyopathy (ARVC)

1.00

Arrhythmogenic right ventricular cardiomyopathy

0.99

Pathway sources
See GeneCards unified pathways
Show all pathways

2 EMD Millipore Pathways for SLC8A1

	Signal transduction Calcium signaling
	Sodium-coupled transporters and pumps

3 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for SLC8A1

	Intracellular Calcium Signaling
	Visual Cycle in Retinal Rods
	Alpha-Adrenergic Signaling

1 GeneGo (Thomson Reuters) Pathway for SLC8A1

Signal transduction Calcium signaling

3 BioSystems Pathways for SLC8A1

	Calcium Regulation in the Cardiac Cell
	Myometrial Relaxation and Contraction Pathways
	Arrhythmogenic right ventricular cardiomyopathy

5/8 Reactome Pathways for SLC8A1 (see all 8)

	Hemostasis
	Sodium/Calcium exchangers
	Transmembrane transport of small molecules
	SLC-mediated transmembrane transport
	Transport of inorganic cations/anions and amino acids/oligopeptides

5/8 Kegg Pathways (Kegg details for SLC8A1) (see all 8):

	Calcium signaling pathway
	Cardiac muscle contraction
	Endocrine and other factor-regulated calcium reabsorption
	Protein digestion and absorption
	Mineral absorption

SLC8A1 for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for SLC8A1

STRING Interaction Network Preview (showing 5 interactants - click image to see 7)

5/13 Interacting proteins for SLC8A1 (P32418³ ENSP00000332931⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 13)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
CAV3	P56539³, ENSP00000341940⁴	I2D: score=2 STRING: ENSP00000341940
PPP3CB	P16298³, ENSP00000378306⁴	I2D: score=1 STRING: ENSP00000378306
YWHAB	P31946³, ENSP00000300161⁴	I2D: score=1 STRING: ENSP00000300161
YWHAE	P62258³, ENSP00000264335⁴	I2D: score=1 STRING: ENSP00000264335
TRPC3	Q13507³, ENSP00000368966⁴	I2D: score=1 STRING: ENSP00000368966

About this table

Gene Ontology (GO): 5/42 biological process terms (GO ID links to tree view) (see all 42): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0001666	response to hypoxia	IEA	--
GO:0001892	embryonic placenta development	IEA	--
GO:0002026	regulation of the force of heart contraction	ISS	--
GO:0002027	regulation of heart rate	ISS	--
GO:0002028	regulation of sodium ion transport	IEA	--

SLC8A1 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

SLC8A1 for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Compounds for SLC8A1 available from Tocris Bioscience About this table

Compound	Action	CAS #
KB-R7943 mesylate	Na+/Ca2+ exchange inhibitor (reverse mode)	[182004-65-5]
SN-6	Selective Na+/Ca2+ exchange inhibitor (reverse mode)	[415697-08-4]
CGP 37157	Antagonist of mitochondrial Na+/Ca2+ exchange	[75450-34-9]

2 HMDB Compounds for SLC8A1 About this table

Compound	Synonyms	CAS #	PubMed Ids
Calcium	Ca (see all 2)	7440-70-2	--
Sodium	Sodium (see all 2)	7440-23-5	--

2 DrugBank Compounds for SLC8A1 About this table

Compound	Synonyms	CAS #	Type	Actions	PubMed Ids
Alpha-Linolenic Acid	(9Z,12Z,15Z)-Octadecatrienoic acid (see all 5)	463-40-1	target	--	17059813 17139284 17016423
Icosapent	Eicosapentaenoic acid (see all 4)	10417-94-4	target	inhibitor	15358223

10/74 Novoseek chemical compound relationships for SLC8A1 gene (see all 74) About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
sea 0400	85.5	5	17310075 (4), 15878358 (1)
2,4-dichlorobenzamil	83.4	1	9740408 (1)
3',4'-dichlorobenzamil	83.2	6	8839852 (1), 16192328 (1), 11350050 (1), 10707889 (1) (see all 5)
p-mca	83	12	9502807 (2), 15541458 (1), 11734659 (1), 16121040 (1) (see all 10)
bepridil	82.5	7	7906528 (1), 8839852 (1), 10737607 (1), 18277608 (1) (see all 7)
calcium	80.9	1000	10191956 (7), 8745210 (7), 10993480 (5), 9357020 (5) (see all 99)
thapsigargin	64.2	3	17010427 (1), 17383000 (1), 7585885 (1)
ryanodine	60.4	4	9571987 (1), 8581510 (1), 18375576 (1), 16539635 (1)
cyclopiazonic acid	57.2	2	7536095 (1), 7858841 (1)
amiloride	57	5	1664334 (1), 7867686 (1), 7964866 (1), 9648857 (1) (see all 5)

Search CenterWatch for drugs/clinical trials and news about SLC8A1 / NAC1

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
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Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for SLC8A1 gene (5 alternative transcripts):

NM_001112800.1 NM_001112801.1 NM_001112802.1 NM_001252624.1 NM_021097.2

Unigene Clusters for SLC8A1:

Solute carrier family 8 (sodium/calcium exchanger), member 1

Hs.31961 [show with all ESTs], Hs.468274 [show with all ESTs], Hs.656261 [show with all ESTs]

Unigene Representative Sequences: AK095013, NM_021097, AK125406

14 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000406785(uc002rsb.2 uc002rrz.3 uc002rsa.3 uc010fan.1 uc002rsd.4)

ENST00000407929 ENST00000403092 ENST00000405901 ENST00000402441(uc002rsc.1)

ENST00000405269 ENST00000455476 ENST00000448531 ENST00000417271 ENST00000542756(uc002rrx.3 uc002rry.3)

ENST00000332839 ENST00000408028 ENST00000406391 ENST00000542024

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Additional cDNA sequence:

AK125406.1 BC043380.2 NR_038441.1

12 DOTS entries:

DT.411377 DT.75190501 DT.100671994 DT.92416930 DT.101962591 DT.40275337 DT.40218567 DT.70101461

DT.120979725 DT.120979738 DT.95264006 DT.40278946

24/63 AceView cDNA sequences (see all 63):

BM966943 X91221 BI964237 BV199238 BM966799 AA331852 CA941099 AI271807

BU752893 AA688377 BM893576 CK004100 BI963916 BX504923 N84834 C04777

CB963698 BX501230 BM021462 AL119696 BQ012467 BX502589 AI611734 T19754

GeneLoc Exon Structure

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

SLC8A1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: ACAAACAACA

About this image

SLC8A1 expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

6 LifeMap In Vivo Development Anatomical Compartments/Cells

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Myocardium

Myocardium

GABAergic Amacrine Cells

Amacrine, Retina

Heart

Primitive Heart Tube

Primitive Heart Tube Cells

Myocardium

Skeletal Muscle

Hyoid Arch Muscles

Mononuclear Myocytes

Skeletal Muscle

Mandibular Arch Muscles

Mononuclear Myocytes

Skeletal Muscle

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

Stem Cell Differentiation: 1 LifeMap Cell

Name

Category

Cardiomyocyte-like progenitor cells (Derivation of cardio...)

See SLC8A1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for SLC8A1

SOURCE GeneReport for Unigene clusters: Hs.31961 Hs.468274 Hs.656261

UniProtKB/Swiss-Prot: NAC1_HUMAN, P32418

Tissue specificity: Expressed in cardiac sarcolemma, brain, kidney, liver, pancreas, skeletal muscle, placenta and lung

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In Situ
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(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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This gene was present in the common ancestor of eukaryotes.

Orthologs for SLC8A1 gene from 8/25 species (see all 25) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	SLC8A1¹	solute carrier family 8 (sodium/calcium exchanger), more	80.43(n) 90.51(a)		395760 NM_001079473.1 NP_001072941.1
lizard (Anolis carolinensis)	Reptilia	-- --	--	94(a) 92(a)	1 ↔ many 1 ↔ many	1(253365717-253366505) 1(253621810-253683402)
African clawed frog (Xenopus laevis)	Amphibia	Xl.23650²	X.laevis mRNA for sodium-calcium exchanger	80.11(n)		X90838.1
zebrafish (Danio rerio)	Actinopterygii	Dr.19052²	Transcribed sequence with moderate similarity to protein more	75.97(n)		BQ284787.1
fruit fly (Drosophila melanogaster)	Insecta	Calx³	calcium:sodium antiporter	46(a)		93B3 --
worm (Caenorhabditis elegans)	Secernentea	Y113G7A.4³ ncx-1¹	Protein NCX-1¹	45(a) (best of 2)³ 54.29(n)¹ 51.03(a)¹		V(20097897-20112759)³ 180318¹ NM_001047717.3¹ NP_001041182.1¹
thale cress (Arabidopsis thaliana)	eudicotyledons	MHX1⁶	magnesium/proton exchanger	29(a)	1 → many	2(19524160-19527413)
rice (Oryza sativa)	Liliopsida	--	sodium/calcium exchanger protein, putative, expres...	29(a)	1 → many	11(26016786-26020797)

ENSEMBL Gene Tree for SLC8A1 (if available)
TreeFam Gene Tree for SLC8A1 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
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Paralogs for SLC8A1 gene

SLC8A3² SLC24A3² SLC24A5² SLC24A6² SLC24A4² SLC8A2² SLC24A1² SLC24A2²

6 SIMAP similar genes for SLC8A1 using alignment to 8 protein entries: NAC1_HUMAN (see all proteins):

ncx1 DKFZp779F0871 SLC8A3 NACAIS4 SLC8A2 DKFZp761D171

SLC8A1 for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
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SNP ID	Valid	Clinical significance	Chr 2 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs137879982^1,2	C,	other	40397449(+)	`AGAATC/TGGATG`	10	P	syn¹ int¹		1		NA	4550
rs142612149^1,2	C,	other	40656923(+)	`GGACCA/GAGGTC`	10	L	syn¹		0	--	--	--	--
rs142219985^1,2		--	40338812(+)	`TTTTGA/GCTATA`	6	--	int¹ ds500¹		0	--	--	--	--
rs183030775^1,2		--	40338829(+)	`ATGAAG/TTTAAT`	6	--	ds500¹ int¹		0	--	--	--	--
rs7588736^1,2	C,F,H,	--	40338837(+)	`AATAAC/GATATA`	6	--	ds500¹ int¹		19		NA NS EA WA CSA	936
rs187786485^1,2		--	40338843(+)	`ATATAG/TACAGA`	6	--	ds500¹ int¹		0	--	--	--	--
rs146398635^1,2		--	40338893(+)	`AACATA/GTGAAA`	6	--	ds500¹ int¹		0	--	--	--	--
rs74429649^1,2	C,F,	--	40338989(+)	`GATTTG/CATGTA`	6	--	int¹ ds500¹		1		WA	118
rs139474660^1,2		--	40338991(+)	`TTTGAC/TGTAAT`	6	--	ds500¹ int¹		0	--	--	--	--
rs79359256^1,2	C,F,	--	40338992(+)	`TTGATG/ATAATA`	6	--	ds500¹ int¹		1		NA	120

HapMap Linkage Disequilibrium report for SLC8A1 (40339286 - 40589286 bp, first 250kb of SLC8A1)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 12 variations for SLC8A1
8 CNVs: 47975 89599 97824 67519 3353 50483 78509 32299
4 Indels: 41768 26692 40325 89600
Human Gene Mutation Database (HGMD): SLC8A1

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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SLC8A1 for disorders           About GeneDecksing

OMIM gene information: 182305    OMIM disorders: --

20 diseases for SLC8A1:    About MalaCards

aromatase deficiency essential hypertension anoxia hypertension

alzheimer's disease ischemia multiple sclerosis colon carcinoma

gingivitis cerebritis neurodegeneration colon cancer

cholesterol hypoxia neuroblastoma retinitis

carcinoma pancreatitis hepatitis neuronitis

1 disease from the University of Copenhagen DISEASES database for SLC8A1:

Vascular disease

10/15 Novoseek disease relationships for SLC8A1 gene (see all 15) About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
cardiac hypertrophy	48	2	12502566 (1), 18508719 (1)
heart failure	43.5	9	19085808 (2), 16966329 (1), 12650877 (1), 17541957 (1) (see all 6)
cell damage	34.7	12	16973719 (2), 15213295 (1), 17446489 (1), 7943783 (1) (see all 5)
arrhythmia	33.9	2	15358223 (1), 19085808 (1)
hypertrophy	26.2	5	9202844 (2), 16966329 (1), 17264507 (1)
ischemia	24	18	16626636 (6), 15878358 (2), 11456400 (1), 12168723 (1) (see all 7)
essential hypertension	23.8	1	15785003 (1)
cardiomyopathy	23.4	2	16501819 (1), 12766734 (1)
cardiovascular diseases	0	3	17435337 (1), 20109173 (1)
genetic disorder	0	2	1559714 (1), 12710524 (1)

Genetic Association Database (GAD): SLC8A1
Human Genome Epidemiology (HuGE) Navigator: SLC8A1 (9 documents)

Export disorders for SLC8A1 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
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PubMed articles for SLC8A1 gene, integrated from 9 sources (see all 308):
(articles sorted by number of sources associating them with SLC8A1)

Utopia: connect your pdf to the dynamic
world of online information

Association of genetic polymorphisms of sodium-calcium exchanger 1 gene, NCX1, with hypertension in a Japanese general population. (PubMed id 15785003)^{1, 4, 9} Kokubo Y....Miyata T. (2004)
Molecular cloning and characterization of the human cardiac Na+/Ca2+ exchanger cDNA. (PubMed id 1374913)^{1, 2, 9} Komuro I.... Izumo S. (1992)
NCX1 Na/Ca exchanger splice variants in pancreatic islet cells. (PubMed id 11241183)^{1, 2, 9} Van Eylen F.... Herchuelz A. (2001)
The thiazide-sensitive Na(+)-Cl(-) cotransporter gene, C1784T, and adrenergic receptor-beta3 gene, T727C, may be gene polymorphisms susceptible to the antihypertensive effect of thiazide diuretics. (PubMed id 15824464)^{1, 4, 9} Matayoshi T....Kawano Y. (2004)
Mapping of the gene for the cardiac sarcolemmal Na(+)-Ca2+ exchanger to human chromosome 2p21-p23. (PubMed id 1559714)^{1, 3, 9} Shieh B.H....Philipson K.D. (1992)
Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)^{1, 2} Ota T.... Sugano S. (2004)
Expression of the Na-Ca exchanger in diverse tissues: a study using the cloned human cardiac Na-Ca exchanger. (PubMed id 1476165)^{1, 2} Kofuji P.... Schulze D.H. (1992)
Reactive oxygen species directly modify sodium-calciu m exchanger activity in a splice variant-dependent manner. (PubMed id 19481548)^{1, 9} Soliman D....Light P.E. (2009)
Cytoplasmic tail of phospholemman interacts with the intracellular loop of the cardiac Na+/Ca2+ exchanger. (PubMed id 16921169)^{1, 9} Wang J....Cheung J.Y. (2006)
The participation of the Na+-Ca2+ exchanger in primary cardiac myofibroblast migration, contraction, and proliferation. (PubMed id 17541957)^{1, 9} Raizman J.E....Dixon I.M. (2007)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 6546	HGNC: 11068	AceView: SLC8A1	Ensembl:ENSG00000183023	euGenes: HUgn6546
ECgene: SLC8A1	Kegg: 6546	H-InvDB: SLC8A1

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for SLC8A1	Pharmacogenomics, SNPs, Pathways

Intellectual Property for SLC8A1 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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Patent Information for SLC8A1 gene:
Search GeneIP for patents involving SLC8A1

GeneCards and IP:
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SLC8A1 Gene

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SLC8A1 Gene

solute carrier family 8 (sodium/calcium exchanger), member...

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