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FXYD1 (FXYD domain containing ion transport regulator 1)

Identity

Alias_namesPLM
phospholemman
Other alias
HGNC (Hugo) FXYD1
LocusID (NCBI) 5348
Atlas_Id 63633
Location 19q13.12  [Link to chromosome band 19q13]
Location_base_pair Starts at 35138993 and ends at 35143055 bp from pter ( according to hg38-Dec_2013)

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)FXYD1   4025
Cards
Entrez_Gene (NCBI)FXYD1  5348  FXYD domain containing ion transport regulator 1
AliasesPLM
GeneCards (Weizmann)FXYD1
Ensembl hg19 (Hinxton)ENSG00000266964 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000266964 [Gene_View]  chr19:35138993-35143055 [Contig_View]  FXYD1 [Vega]
ICGC DataPortalENSG00000266964
TCGA cBioPortalFXYD1
AceView (NCBI)FXYD1
Genatlas (Paris)FXYD1
WikiGenes5348
SOURCE (Princeton)FXYD1
Genetics Home Reference (NIH)FXYD1
Genomic and cartography
GoldenPath hg38 (UCSC)FXYD1  -     chr19:35138993-35143055 +  19q13.12   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)FXYD1  -     19q13.12   [Description]    (hg19-Feb_2009)
EnsemblFXYD1 - 19q13.12 [CytoView hg19]  FXYD1 - 19q13.12 [CytoView hg38]
Mapping of homologs : NCBIFXYD1 [Mapview hg19]  FXYD1 [Mapview hg38]
OMIM602359   
Gene and transcription
Genbank (Entrez)AA524547 AK289811 BC032800 BM691130 BM856555
RefSeq transcript (Entrez)NM_001278717 NM_001278718 NM_005031 NM_021902
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)FXYD1
Cluster EST : UnigeneHs.442498 [ NCBI ]
CGAP (NCI)Hs.442498
Alternative Splicing GalleryENSG00000266964
Gene ExpressionFXYD1 [ NCBI-GEO ]   FXYD1 [ EBI - ARRAY_EXPRESS ]   FXYD1 [ SEEK ]   FXYD1 [ MEM ]
Gene Expression Viewer (FireBrowse)FXYD1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)5348
GTEX Portal (Tissue expression)FXYD1
Protein : pattern, domain, 3D structure
UniProt/SwissProtO00168   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO00168  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO00168
Splice isoforms : SwissVarO00168
PhosPhoSitePlusO00168
Domaine pattern : Prosite (Expaxy)FXYD (PS01310)   
Domains : Interpro (EBI)Ion-transport_regulator_FXYD   
Domain families : Pfam (Sanger)ATP1G1_PLM_MAT8 (PF02038)   
Domain families : Pfam (NCBI)pfam02038   
Domain structure : Prodom (Prabi Lyon)PD005989 (PD005989)   
Conserved Domain (NCBI)FXYD1
DMDM Disease mutations5348
Blocks (Seattle)FXYD1
PDB (SRS)2J1I    2JO1   
PDB (PDBSum)2J1I    2JO1   
PDB (IMB)2J1I    2JO1   
PDB (RSDB)2J1I    2JO1   
Structural Biology KnowledgeBase2J1I    2JO1   
SCOP (Structural Classification of Proteins)2J1I    2JO1   
CATH (Classification of proteins structures)2J1I    2JO1   
SuperfamilyO00168
Human Protein AtlasENSG00000266964
Peptide AtlasO00168
HPRD03837
IPIIPI00010442   
Protein Interaction databases
DIP (DOE-UCLA)O00168
IntAct (EBI)O00168
FunCoupENSG00000266964
BioGRIDFXYD1
STRING (EMBL)FXYD1
ZODIACFXYD1
Ontologies - Pathways
QuickGOO00168
Ontology : AmiGOchloride channel activity  plasma membrane  integral component of plasma membrane  sodium:potassium-exchanging ATPase complex  chloride transport  muscle contraction  regulation of heart contraction  sodium channel regulator activity  sodium channel regulator activity  ion transmembrane transport  chloride channel complex  sarcolemma  ion channel binding  regulation of cardiac muscle cell membrane potential  chloride transmembrane transport  positive regulation of sodium ion export from cell  regulation of cardiac conduction  regulation of sodium ion transmembrane transporter activity  regulation of sodium ion transmembrane transporter activity  
Ontology : EGO-EBIchloride channel activity  plasma membrane  integral component of plasma membrane  sodium:potassium-exchanging ATPase complex  chloride transport  muscle contraction  regulation of heart contraction  sodium channel regulator activity  sodium channel regulator activity  ion transmembrane transport  chloride channel complex  sarcolemma  ion channel binding  regulation of cardiac muscle cell membrane potential  chloride transmembrane transport  positive regulation of sodium ion export from cell  regulation of cardiac conduction  regulation of sodium ion transmembrane transporter activity  regulation of sodium ion transmembrane transporter activity  
NDEx NetworkFXYD1
Atlas of Cancer Signalling NetworkFXYD1
Wikipedia pathwaysFXYD1
Orthology - Evolution
OrthoDB5348
GeneTree (enSembl)ENSG00000266964
Phylogenetic Trees/Animal Genes : TreeFamFXYD1
HOVERGENO00168
HOGENOMO00168
Homologs : HomoloGeneFXYD1
Homology/Alignments : Family Browser (UCSC)FXYD1
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerFXYD1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)FXYD1
dbVarFXYD1
ClinVarFXYD1
1000_GenomesFXYD1 
Exome Variant ServerFXYD1
ExAC (Exome Aggregation Consortium)FXYD1 (select the gene name)
Genetic variants : HAPMAP5348
Genomic Variants (DGV)FXYD1 [DGVbeta]
DECIPHERFXYD1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisFXYD1 
Mutations
ICGC Data PortalFXYD1 
TCGA Data PortalFXYD1 
Broad Tumor PortalFXYD1
OASIS PortalFXYD1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICFXYD1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDFXYD1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch FXYD1
DgiDB (Drug Gene Interaction Database)FXYD1
DoCM (Curated mutations)FXYD1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)FXYD1 (select a term)
intoGenFXYD1
Cancer3DFXYD1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM602359   
Orphanet
MedgenFXYD1
Genetic Testing Registry FXYD1
NextProtO00168 [Medical]
TSGene5348
GENETestsFXYD1
Target ValidationFXYD1
Huge Navigator FXYD1 [HugePedia]
snp3D : Map Gene to Disease5348
BioCentury BCIQFXYD1
ClinGenFXYD1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD5348
Chemical/Pharm GKB GenePA28441
Clinical trialFXYD1
Miscellaneous
canSAR (ICR)FXYD1 (select the gene name)
Probes
Litterature
PubMed37 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineFXYD1
EVEXFXYD1
GoPubMedFXYD1
iHOPFXYD1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

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indexed on : Mon Sep 18 13:09:01 CEST 2017

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