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ATP13A3 (ATPase 13A3)

Identity

Alias_namesATPase type 13A3
Alias_symbol (synonym)AFURS1
Other alias
HGNC (Hugo) ATP13A3
LocusID (NCBI) 79572
Atlas_Id 60611
Location 3q29  [Link to chromosome band 3q29]
Location_base_pair Starts at 194402674 and ends at 194468239 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
ATP13A3 (3q29) / ATP13A3 (3q29)CBFB (16q22.1) / ATP13A3 (3q29)

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)ATP13A3   24113
Cards
Entrez_Gene (NCBI)ATP13A3  79572  ATPase 13A3
AliasesAFURS1
GeneCards (Weizmann)ATP13A3
Ensembl hg19 (Hinxton)ENSG00000133657 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000133657 [Gene_View]  chr3:194402674-194468239 [Contig_View]  ATP13A3 [Vega]
ICGC DataPortalENSG00000133657
TCGA cBioPortalATP13A3
AceView (NCBI)ATP13A3
Genatlas (Paris)ATP13A3
WikiGenes79572
SOURCE (Princeton)ATP13A3
Genetics Home Reference (NIH)ATP13A3
Genomic and cartography
GoldenPath hg38 (UCSC)ATP13A3  -     chr3:194402674-194468239 -  3q29   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)ATP13A3  -     3q29   [Description]    (hg19-Feb_2009)
EnsemblATP13A3 - 3q29 [CytoView hg19]  ATP13A3 - 3q29 [CytoView hg38]
Mapping of homologs : NCBIATP13A3 [Mapview hg19]  ATP13A3 [Mapview hg38]
OMIM610232   
Gene and transcription
Genbank (Entrez)AJ306929 AK024639 AK075094 AK225064 BC037805
RefSeq transcript (Entrez)NM_024524
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)ATP13A3
Cluster EST : UnigeneHs.529609 [ NCBI ]
CGAP (NCI)Hs.529609
Alternative Splicing GalleryENSG00000133657
Gene ExpressionATP13A3 [ NCBI-GEO ]   ATP13A3 [ EBI - ARRAY_EXPRESS ]   ATP13A3 [ SEEK ]   ATP13A3 [ MEM ]
Gene Expression Viewer (FireBrowse)ATP13A3 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)79572
GTEX Portal (Tissue expression)ATP13A3
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9H7F0   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9H7F0  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9H7F0
Splice isoforms : SwissVarQ9H7F0
Catalytic activity : Enzyme3.6.3.- [ Enzyme-Expasy ]   3.6.3.-3.6.3.- [ IntEnz-EBI ]   3.6.3.- [ BRENDA ]   3.6.3.- [ KEGG ]   
PhosPhoSitePlusQ9H7F0
Domaine pattern : Prosite (Expaxy)ATPASE_E1_E2 (PS00154)   
Domains : Interpro (EBI)ATPase_P-typ_cation-transptr_C    ATPase_P-typ_cation-transptr_N    ATPase_P-typ_cyto_domN    ATPase_P-typ_P_site    ATPase_P-typ_transduc_dom_A    HAD-like_dom    P-type_TPase_V    P_typ_ATPase   
Domain families : Pfam (Sanger)Cation_ATPase_C (PF00689)    Cation_ATPase_N (PF00690)    E1-E2_ATPase (PF00122)    P5-ATPase (PF12409)   
Domain families : Pfam (NCBI)pfam00689    pfam00690    pfam00122    pfam12409   
Conserved Domain (NCBI)ATP13A3
DMDM Disease mutations79572
Blocks (Seattle)ATP13A3
SuperfamilyQ9H7F0
Human Protein AtlasENSG00000133657
Peptide AtlasQ9H7F0
HPRD10636
IPIIPI00847139   IPI00177661   IPI00926395   IPI00926604   IPI00924832   
Protein Interaction databases
DIP (DOE-UCLA)Q9H7F0
IntAct (EBI)Q9H7F0
FunCoupENSG00000133657
BioGRIDATP13A3
STRING (EMBL)ATP13A3
ZODIACATP13A3
Ontologies - Pathways
QuickGOQ9H7F0
Ontology : AmiGOcalcium-transporting ATPase activity  ATP binding  integral component of plasma membrane  cellular calcium ion homeostasis  membrane  intracellular membrane-bounded organelle  metal ion binding  calcium ion transmembrane transport  ATP hydrolysis coupled cation transmembrane transport  
Ontology : EGO-EBIcalcium-transporting ATPase activity  ATP binding  integral component of plasma membrane  cellular calcium ion homeostasis  membrane  intracellular membrane-bounded organelle  metal ion binding  calcium ion transmembrane transport  ATP hydrolysis coupled cation transmembrane transport  
NDEx NetworkATP13A3
Atlas of Cancer Signalling NetworkATP13A3
Wikipedia pathwaysATP13A3
Orthology - Evolution
OrthoDB79572
GeneTree (enSembl)ENSG00000133657
Phylogenetic Trees/Animal Genes : TreeFamATP13A3
HOVERGENQ9H7F0
HOGENOMQ9H7F0
Homologs : HomoloGeneATP13A3
Homology/Alignments : Family Browser (UCSC)ATP13A3
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerATP13A3 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ATP13A3
dbVarATP13A3
ClinVarATP13A3
1000_GenomesATP13A3 
Exome Variant ServerATP13A3
ExAC (Exome Aggregation Consortium)ATP13A3 (select the gene name)
Genetic variants : HAPMAP79572
Genomic Variants (DGV)ATP13A3 [DGVbeta]
DECIPHERATP13A3 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisATP13A3 
Mutations
ICGC Data PortalATP13A3 
TCGA Data PortalATP13A3 
Broad Tumor PortalATP13A3
OASIS PortalATP13A3 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICATP13A3  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDATP13A3
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch ATP13A3
DgiDB (Drug Gene Interaction Database)ATP13A3
DoCM (Curated mutations)ATP13A3 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ATP13A3 (select a term)
intoGenATP13A3
Cancer3DATP13A3(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM610232   
Orphanet
MedgenATP13A3
Genetic Testing Registry ATP13A3
NextProtQ9H7F0 [Medical]
TSGene79572
GENETestsATP13A3
Target ValidationATP13A3
Huge Navigator ATP13A3 [HugePedia]
snp3D : Map Gene to Disease79572
BioCentury BCIQATP13A3
ClinGenATP13A3
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD79572
Chemical/Pharm GKB GenePA134971145
Clinical trialATP13A3
Miscellaneous
canSAR (ICR)ATP13A3 (select the gene name)
Probes
Litterature
PubMed14 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineATP13A3
EVEXATP13A3
GoPubMedATP13A3
iHOPATP13A3
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Sep 18 13:01:59 CEST 2017

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