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SLC9A1 (solute carrier family 9 member A1)

Identity

Alias_namesregulatory subunit 143
APNH
NHE1
Alias_symbol (synonym)PPP1R143
Other aliasLIKNS
NHE-1
HGNC (Hugo) SLC9A1
LocusID (NCBI) 6548
Atlas_Id 45988
Location 1p36.11  [Link to chromosome band 1p36]
Location_base_pair Starts at 27098809 and ends at 27155130 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
BCAT1 (12p12.1) / SLC9A1 (1p36.11)PLOD3 (7q22.1) / SLC9A1 (1p36.11)SLC9A1 (1p36.11) / COL4A1 (13q34)

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)SLC9A1   11071
Cards
Entrez_Gene (NCBI)SLC9A1  6548  solute carrier family 9 member A1
AliasesAPNH; LIKNS; NHE-1; NHE1; 
PPP1R143
GeneCards (Weizmann)SLC9A1
Ensembl hg19 (Hinxton)ENSG00000090020 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000090020 [Gene_View]  chr1:27098809-27155130 [Contig_View]  SLC9A1 [Vega]
ICGC DataPortalENSG00000090020
TCGA cBioPortalSLC9A1
AceView (NCBI)SLC9A1
Genatlas (Paris)SLC9A1
WikiGenes6548
SOURCE (Princeton)SLC9A1
Genetics Home Reference (NIH)SLC9A1
Genomic and cartography
GoldenPath hg38 (UCSC)SLC9A1  -     chr1:27098809-27155130 -  1p36.11   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)SLC9A1  -     1p36.11   [Description]    (hg19-Feb_2009)
EnsemblSLC9A1 - 1p36.11 [CytoView hg19]  SLC9A1 - 1p36.11 [CytoView hg38]
Mapping of homologs : NCBISLC9A1 [Mapview hg19]  SLC9A1 [Mapview hg38]
OMIM107310   616291   
Gene and transcription
Genbank (Entrez)###############################################################################################################################################################################################################################################################
RefSeq transcript (Entrez)NM_003047
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)SLC9A1
Cluster EST : UnigeneHs.469116 [ NCBI ]
CGAP (NCI)Hs.469116
Alternative Splicing GalleryENSG00000090020
Gene ExpressionSLC9A1 [ NCBI-GEO ]   SLC9A1 [ EBI - ARRAY_EXPRESS ]   SLC9A1 [ SEEK ]   SLC9A1 [ MEM ]
Gene Expression Viewer (FireBrowse)SLC9A1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)6548
GTEX Portal (Tissue expression)SLC9A1
Protein : pattern, domain, 3D structure
UniProt/SwissProtP19634   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP19634  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP19634
Splice isoforms : SwissVarP19634
PhosPhoSitePlusP19634
Domains : Interpro (EBI)Cation/H_exchanger    Cation/H_exchanger_CPA1    Na/H_exchanger_1    NaH_exchanger    NHE_CaM-bd   
Domain families : Pfam (Sanger)Na_H_Exchanger (PF00999)    NEXCaM_BD (PF16644)   
Domain families : Pfam (NCBI)pfam00999    pfam16644   
Conserved Domain (NCBI)SLC9A1
DMDM Disease mutations6548
Blocks (Seattle)SLC9A1
PDB (SRS)1Y4E    2BEC    2E30    2HTG    2KBV    2L0E    2MDF    2YGG   
PDB (PDBSum)1Y4E    2BEC    2E30    2HTG    2KBV    2L0E    2MDF    2YGG   
PDB (IMB)1Y4E    2BEC    2E30    2HTG    2KBV    2L0E    2MDF    2YGG   
PDB (RSDB)1Y4E    2BEC    2E30    2HTG    2KBV    2L0E    2MDF    2YGG   
Structural Biology KnowledgeBase1Y4E    2BEC    2E30    2HTG    2KBV    2L0E    2MDF    2YGG   
SCOP (Structural Classification of Proteins)1Y4E    2BEC    2E30    2HTG    2KBV    2L0E    2MDF    2YGG   
CATH (Classification of proteins structures)1Y4E    2BEC    2E30    2HTG    2KBV    2L0E    2MDF    2YGG   
SuperfamilyP19634
Human Protein AtlasENSG00000090020
Peptide AtlasP19634
HPRD00123
IPIIPI00020060   IPI00644335   IPI00641616   IPI00478057   IPI00646455   
Protein Interaction databases
DIP (DOE-UCLA)P19634
IntAct (EBI)P19634
FunCoupENSG00000090020
BioGRIDSLC9A1
STRING (EMBL)SLC9A1
ZODIACSLC9A1
Ontologies - Pathways
QuickGOP19634
Ontology : AmiGOprotein binding  calmodulin binding  phosphatidylinositol-4,5-bisphosphate binding  nucleoplasm  cytoplasm  mitochondrion  endoplasmic reticulum  endoplasmic reticulum membrane  plasma membrane  plasma membrane  integral component of plasma membrane  focal adhesion  ion transport  cellular sodium ion homeostasis  regulation of pH  regulation of pH  cell surface  response to acidic pH  positive regulation of cardiac muscle hypertrophy  regulation of cardiac muscle contraction by calcium ion signaling  intercalated disc  solute:proton antiporter activity  sodium:proton antiporter activity  sodium:proton antiporter activity  sodium:proton antiporter activity  potassium:proton antiporter activity  integral component of membrane  cell growth  basolateral plasma membrane  apical plasma membrane  cell migration  maintenance of cell polarity  lamellipodium  hyaluronan catabolic process  positive regulation of cell growth  T-tubule  protein phosphatase 2B binding  protein phosphatase 2B binding  protein binding, bridging  cellular response to insulin stimulus  protein complex scaffold  positive regulation of mitochondrial membrane permeability  response to muscle stretch  response to drug  positive regulation of apoptotic process  negative regulation of apoptotic process  membrane raft  positive regulation of action potential  positive regulation of transcription from RNA polymerase II promoter  calcium-dependent protein binding  perinuclear region of cytoplasm  protein oligomerization  regulation of intracellular pH  regulation of stress fiber assembly  positive regulation of NFAT protein import into nucleus  regulation of focal adhesion assembly  regulation of sensory perception of pain  cardiac muscle cell differentiation  extracellular exosome  positive regulation of calcineurin-NFAT signaling cascade  neuron death  cellular response to antibiotic  cellular response to electrical stimulus  cellular response to mechanical stimulus  sodium ion export  cellular response to hypoxia  cellular response to acidic pH  cellular response to acidic pH  potassium ion transmembrane transport  cellular response to epinephrine stimulus  cardiac muscle cell contraction  regulation of cardiac muscle cell membrane potential  sodium:proton antiporter activity involved in regulation of cardiac muscle cell membrane potential  regulation of the force of heart contraction by cardiac conduction  cation-transporting ATPase complex  sodium ion import across plasma membrane  positive regulation of the force of heart contraction  hydrogen ion transmembrane transport  positive regulation of calcium:sodium antiporter activity  
Ontology : EGO-EBIprotein binding  calmodulin binding  phosphatidylinositol-4,5-bisphosphate binding  nucleoplasm  cytoplasm  mitochondrion  endoplasmic reticulum  endoplasmic reticulum membrane  plasma membrane  plasma membrane  integral component of plasma membrane  focal adhesion  ion transport  cellular sodium ion homeostasis  regulation of pH  regulation of pH  cell surface  response to acidic pH  positive regulation of cardiac muscle hypertrophy  regulation of cardiac muscle contraction by calcium ion signaling  intercalated disc  solute:proton antiporter activity  sodium:proton antiporter activity  sodium:proton antiporter activity  sodium:proton antiporter activity  potassium:proton antiporter activity  integral component of membrane  cell growth  basolateral plasma membrane  apical plasma membrane  cell migration  maintenance of cell polarity  lamellipodium  hyaluronan catabolic process  positive regulation of cell growth  T-tubule  protein phosphatase 2B binding  protein phosphatase 2B binding  protein binding, bridging  cellular response to insulin stimulus  protein complex scaffold  positive regulation of mitochondrial membrane permeability  response to muscle stretch  response to drug  positive regulation of apoptotic process  negative regulation of apoptotic process  membrane raft  positive regulation of action potential  positive regulation of transcription from RNA polymerase II promoter  calcium-dependent protein binding  perinuclear region of cytoplasm  protein oligomerization  regulation of intracellular pH  regulation of stress fiber assembly  positive regulation of NFAT protein import into nucleus  regulation of focal adhesion assembly  regulation of sensory perception of pain  cardiac muscle cell differentiation  extracellular exosome  positive regulation of calcineurin-NFAT signaling cascade  neuron death  cellular response to antibiotic  cellular response to electrical stimulus  cellular response to mechanical stimulus  sodium ion export  cellular response to hypoxia  cellular response to acidic pH  cellular response to acidic pH  potassium ion transmembrane transport  cellular response to epinephrine stimulus  cardiac muscle cell contraction  regulation of cardiac muscle cell membrane potential  sodium:proton antiporter activity involved in regulation of cardiac muscle cell membrane potential  regulation of the force of heart contraction by cardiac conduction  cation-transporting ATPase complex  sodium ion import across plasma membrane  positive regulation of the force of heart contraction  hydrogen ion transmembrane transport  positive regulation of calcium:sodium antiporter activity  
Pathways : KEGG   
NDEx NetworkSLC9A1
Atlas of Cancer Signalling NetworkSLC9A1
Wikipedia pathwaysSLC9A1
Orthology - Evolution
OrthoDB6548
GeneTree (enSembl)ENSG00000090020
Phylogenetic Trees/Animal Genes : TreeFamSLC9A1
HOVERGENP19634
HOGENOMP19634
Homologs : HomoloGeneSLC9A1
Homology/Alignments : Family Browser (UCSC)SLC9A1
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerSLC9A1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SLC9A1
dbVarSLC9A1
ClinVarSLC9A1
1000_GenomesSLC9A1 
Exome Variant ServerSLC9A1
ExAC (Exome Aggregation Consortium)SLC9A1 (select the gene name)
Genetic variants : HAPMAP6548
Genomic Variants (DGV)SLC9A1 [DGVbeta]
DECIPHERSLC9A1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisSLC9A1 
Mutations
ICGC Data PortalSLC9A1 
TCGA Data PortalSLC9A1 
Broad Tumor PortalSLC9A1
OASIS PortalSLC9A1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICSLC9A1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDSLC9A1
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 SLC9A1
DgiDB (Drug Gene Interaction Database)SLC9A1
DoCM (Curated mutations)SLC9A1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)SLC9A1 (select a term)
intoGenSLC9A1
Cancer3DSLC9A1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM107310    616291   
Orphanet23564   
MedgenSLC9A1
Genetic Testing Registry SLC9A1
NextProtP19634 [Medical]
TSGene6548
GENETestsSLC9A1
Target ValidationSLC9A1
Huge Navigator SLC9A1 [HugePedia]
snp3D : Map Gene to Disease6548
BioCentury BCIQSLC9A1
ClinGenSLC9A1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD6548
Chemical/Pharm GKB GenePA35928
Clinical trialSLC9A1
Miscellaneous
canSAR (ICR)SLC9A1 (select the gene name)
Probes
Litterature
PubMed190 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineSLC9A1
EVEXSLC9A1
GoPubMedSLC9A1
iHOPSLC9A1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Wed Jun 7 12:56:20 CEST 2017

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