Atlas of Genetics and Cytogenetics in Oncology and Haematology


Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

X Y 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 NA

SLC8A1 (solute carrier family 8 member A1)

Identity

Alias_namesNCX1
solute carrier family 8 (sodium/calcium exchanger)
Other alias
HGNC (Hugo) SLC8A1
LocusID (NCBI) 6546
Atlas_Id 55403
Location 2p22.1  [Link to chromosome band 2p22]
Location_base_pair Starts at 40112146 and ends at 40430304 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
SLC8A1 (2p22.1) / RAB6A (11q13.4)SLC8A1 (2p22.1) / SLC8A1 (2p22.1)XAF1 (17p13.1) / SLC8A1 (2p22.1)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)SLC8A1   11068
Cards
Entrez_Gene (NCBI)SLC8A1  6546  solute carrier family 8 member A1
AliasesNCX1
GeneCards (Weizmann)SLC8A1
Ensembl hg19 (Hinxton)ENSG00000183023 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000183023 [Gene_View]  chr2:40112146-40430304 [Contig_View]  SLC8A1 [Vega]
ICGC DataPortalENSG00000183023
TCGA cBioPortalSLC8A1
AceView (NCBI)SLC8A1
Genatlas (Paris)SLC8A1
WikiGenes6546
SOURCE (Princeton)SLC8A1
Genetics Home Reference (NIH)SLC8A1
Genomic and cartography
GoldenPath hg38 (UCSC)SLC8A1  -     chr2:40112146-40430304 -  2p22.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)SLC8A1  -     2p22.1   [Description]    (hg19-Feb_2009)
EnsemblSLC8A1 - 2p22.1 [CytoView hg19]  SLC8A1 - 2p22.1 [CytoView hg38]
Mapping of homologs : NCBISLC8A1 [Mapview hg19]  SLC8A1 [Mapview hg38]
OMIM182305   
Gene and transcription
Genbank (Entrez)AB209075 AF108388 AF108389 AF115505 AF128524
RefSeq transcript (Entrez)NM_001112800 NM_001112801 NM_001112802 NM_001252624 NM_021097
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)SLC8A1
Cluster EST : UnigeneHs.744988 [ NCBI ]
CGAP (NCI)Hs.744988
Alternative Splicing GalleryENSG00000183023
Gene ExpressionSLC8A1 [ NCBI-GEO ]   SLC8A1 [ EBI - ARRAY_EXPRESS ]   SLC8A1 [ SEEK ]   SLC8A1 [ MEM ]
Gene Expression Viewer (FireBrowse)SLC8A1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)6546
GTEX Portal (Tissue expression)SLC8A1
Protein : pattern, domain, 3D structure
UniProt/SwissProtP32418   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP32418  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP32418
Splice isoforms : SwissVarP32418
PhosPhoSitePlusP32418
Domains : Interpro (EBI)Calx_beta    DnaJ_domain    Na_Ca_Ex    Na_Ca_Ex_C-exten    NaCa_exhngr1    NaCa_Exmemb   
Domain families : Pfam (Sanger)Calx-beta (PF03160)    Na_Ca_ex (PF01699)    Na_Ca_ex_C (PF16494)   
Domain families : Pfam (NCBI)pfam03160    pfam01699    pfam16494   
Domain families : Smart (EMBL)Calx_beta (SM00237)  
Conserved Domain (NCBI)SLC8A1
DMDM Disease mutations6546
Blocks (Seattle)SLC8A1
SuperfamilyP32418
Human Protein AtlasENSG00000183023
Peptide AtlasP32418
HPRD01659
IPIIPI00028450   IPI00216107   IPI00216108   IPI00216109   IPI00893722   IPI01010475   IPI00893158   IPI00893573   IPI00878240   
Protein Interaction databases
DIP (DOE-UCLA)P32418
IntAct (EBI)P32418
FunCoupENSG00000183023
BioGRIDSLC8A1
STRING (EMBL)SLC8A1
ZODIACSLC8A1
Ontologies - Pathways
QuickGOP32418
Ontology : AmiGOregulation of the force of heart contraction  regulation of the force of heart contraction  regulation of heart rate  regulation of sodium ion transport  calcium:sodium antiporter activity  calcium:sodium antiporter activity  calcium:sodium antiporter activity  calcium ion binding  protein binding  calmodulin binding  nucleoplasm  mitochondrion  microtubule  plasma membrane  plasma membrane  integral component of plasma membrane  ion transport  cellular sodium ion homeostasis  muscle contraction  response to nutrient  cytoskeletal protein binding  response to glucose  regulation of cell communication by electrical coupling  positive regulation of fibroblast migration  regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion  regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion  regulation of cardiac muscle contraction by calcium ion signaling  intercalated disc  intercalated disc  vascular smooth muscle contraction  telencephalon development  Z disc  T-tubule  T-tubule  positive regulation of bone mineralization  ankyrin binding  ankyrin binding  response to ATP  sodium ion transmembrane transport  sodium ion transmembrane transport  response to immobilization stress  response to muscle stretch  sarcolemma  response to drug  response to hydrogen peroxide  dendritic spine  dendritic shaft  ion channel binding  relaxation of smooth muscle  postsynaptic membrane  negative regulation of cytosolic calcium ion concentration  cardiac muscle cell development  calcium ion homeostasis  relaxation of cardiac muscle  relaxation of cardiac muscle  cardiac muscle contraction  regulation of postsynaptic membrane potential  cytosolic calcium ion transport  calcium ion transport into cytosol  calcium ion import  calcium ion transmembrane transport  cellular response to caffeine  cellular response to cAMP  sodium ion export  cellular response to hypoxia  membrane depolarization during cardiac muscle cell action potential  cell communication by electrical coupling involved in cardiac conduction  sodium ion import  positive regulation of the force of heart contraction  ion antiporter activity involved in regulation of postsynaptic membrane potential  regulation of cardiac conduction  
Ontology : EGO-EBIregulation of the force of heart contraction  regulation of the force of heart contraction  regulation of heart rate  regulation of sodium ion transport  calcium:sodium antiporter activity  calcium:sodium antiporter activity  calcium:sodium antiporter activity  calcium ion binding  protein binding  calmodulin binding  nucleoplasm  mitochondrion  microtubule  plasma membrane  plasma membrane  integral component of plasma membrane  ion transport  cellular sodium ion homeostasis  muscle contraction  response to nutrient  cytoskeletal protein binding  response to glucose  regulation of cell communication by electrical coupling  positive regulation of fibroblast migration  regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion  regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion  regulation of cardiac muscle contraction by calcium ion signaling  intercalated disc  intercalated disc  vascular smooth muscle contraction  telencephalon development  Z disc  T-tubule  T-tubule  positive regulation of bone mineralization  ankyrin binding  ankyrin binding  response to ATP  sodium ion transmembrane transport  sodium ion transmembrane transport  response to immobilization stress  response to muscle stretch  sarcolemma  response to drug  response to hydrogen peroxide  dendritic spine  dendritic shaft  ion channel binding  relaxation of smooth muscle  postsynaptic membrane  negative regulation of cytosolic calcium ion concentration  cardiac muscle cell development  calcium ion homeostasis  relaxation of cardiac muscle  relaxation of cardiac muscle  cardiac muscle contraction  regulation of postsynaptic membrane potential  cytosolic calcium ion transport  calcium ion transport into cytosol  calcium ion import  calcium ion transmembrane transport  cellular response to caffeine  cellular response to cAMP  sodium ion export  cellular response to hypoxia  membrane depolarization during cardiac muscle cell action potential  cell communication by electrical coupling involved in cardiac conduction  sodium ion import  positive regulation of the force of heart contraction  ion antiporter activity involved in regulation of postsynaptic membrane potential  regulation of cardiac conduction  
Pathways : KEGG   
NDEx NetworkSLC8A1
Atlas of Cancer Signalling NetworkSLC8A1
Wikipedia pathwaysSLC8A1
Orthology - Evolution
OrthoDB6546
GeneTree (enSembl)ENSG00000183023
Phylogenetic Trees/Animal Genes : TreeFamSLC8A1
HOVERGENP32418
HOGENOMP32418
Homologs : HomoloGeneSLC8A1
Homology/Alignments : Family Browser (UCSC)SLC8A1
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerSLC8A1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SLC8A1
dbVarSLC8A1
ClinVarSLC8A1
1000_GenomesSLC8A1 
Exome Variant ServerSLC8A1
ExAC (Exome Aggregation Consortium)SLC8A1 (select the gene name)
Genetic variants : HAPMAP6546
Genomic Variants (DGV)SLC8A1 [DGVbeta]
DECIPHERSLC8A1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisSLC8A1 
Mutations
ICGC Data PortalSLC8A1 
TCGA Data PortalSLC8A1 
Broad Tumor PortalSLC8A1
OASIS PortalSLC8A1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICSLC8A1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDSLC8A1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch SLC8A1
DgiDB (Drug Gene Interaction Database)SLC8A1
DoCM (Curated mutations)SLC8A1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)SLC8A1 (select a term)
intoGenSLC8A1
Cancer3DSLC8A1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM182305   
Orphanet
MedgenSLC8A1
Genetic Testing Registry SLC8A1
NextProtP32418 [Medical]
TSGene6546
GENETestsSLC8A1
Target ValidationSLC8A1
Huge Navigator SLC8A1 [HugePedia]
snp3D : Map Gene to Disease6546
BioCentury BCIQSLC8A1
ClinGenSLC8A1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD6546
Chemical/Pharm GKB GenePA314
Clinical trialSLC8A1
Miscellaneous
canSAR (ICR)SLC8A1 (select the gene name)
Probes
Litterature
PubMed103 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineSLC8A1
EVEXSLC8A1
GoPubMedSLC8A1
iHOPSLC8A1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Mon Sep 25 19:31:52 CEST 2017

Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

For comments and suggestions or contributions, please contact us

jlhuret@AtlasGeneticsOncology.org.