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ATP13A1 (ATPase 13A1)

Identity

Alias_namesATP13A
ATPase type 13A
ATPase type 13A1
Alias_symbol (synonym)KIAA1825
FLJ31858
CGI-152
Other alias
HGNC (Hugo) ATP13A1
LocusID (NCBI) 57130
Atlas_Id 60610
Location 19p13.11  [Link to chromosome band 19p13]
Location_base_pair Starts at 19645201 and ends at 19663694 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
ATP13A1 (19p13.11) / SYNCRIP (6q14.3)ATP13A1 (19p13.11) / ZNF14 (19p13.11)CCNK (14q32.2) / ATP13A1 (19p13.11)
DNAJB1 (19p13.12) / ATP13A1 (19p13.11)FLNA (Xq28) / ATP13A1 (19p13.11)MYO9B (19p13.11) / ATP13A1 (19p13.11)

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)ATP13A1   24215
Cards
Entrez_Gene (NCBI)ATP13A1  57130  ATPase 13A1
AliasesATP13A; CGI-152
GeneCards (Weizmann)ATP13A1
Ensembl hg19 (Hinxton)ENSG00000105726 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000105726 [Gene_View]  chr19:19645201-19663694 [Contig_View]  ATP13A1 [Vega]
ICGC DataPortalENSG00000105726
TCGA cBioPortalATP13A1
AceView (NCBI)ATP13A1
Genatlas (Paris)ATP13A1
WikiGenes57130
SOURCE (Princeton)ATP13A1
Genetics Home Reference (NIH)ATP13A1
Genomic and cartography
GoldenPath hg38 (UCSC)ATP13A1  -     chr19:19645201-19663694 -  19p13.11   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)ATP13A1  -     19p13.11   [Description]    (hg19-Feb_2009)
EnsemblATP13A1 - 19p13.11 [CytoView hg19]  ATP13A1 - 19p13.11 [CytoView hg38]
Mapping of homologs : NCBIATP13A1 [Mapview hg19]  ATP13A1 [Mapview hg38]
Gene and transcription
Genbank (Entrez)AB058728 AF288687 AK026044 AK056420 AK074159
RefSeq transcript (Entrez)NM_020410
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)ATP13A1
Cluster EST : UnigeneHs.501794 [ NCBI ]
CGAP (NCI)Hs.501794
Alternative Splicing GalleryENSG00000105726
Gene ExpressionATP13A1 [ NCBI-GEO ]   ATP13A1 [ EBI - ARRAY_EXPRESS ]   ATP13A1 [ SEEK ]   ATP13A1 [ MEM ]
Gene Expression Viewer (FireBrowse)ATP13A1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)57130
GTEX Portal (Tissue expression)ATP13A1
Human Protein AtlasENSG00000105726-ATP13A1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9HD20   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9HD20  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9HD20
Splice isoforms : SwissVarQ9HD20
PhosPhoSitePlusQ9HD20
Domaine pattern : Prosite (Expaxy)ATPASE_E1_E2 (PS00154)   
Domains : Interpro (EBI)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)E1-E2_ATPase (PF00122)   
Domain families : Pfam (NCBI)pfam00122   
Conserved Domain (NCBI)ATP13A1
DMDM Disease mutations57130
Blocks (Seattle)ATP13A1
SuperfamilyQ9HD20
Human Protein Atlas [tissue]ENSG00000105726-ATP13A1 [tissue]
Peptide AtlasQ9HD20
HPRD12501
IPIIPI00034277   IPI00218353   IPI00218354   IPI00383052   IPI00916512   
Protein Interaction databases
DIP (DOE-UCLA)Q9HD20
IntAct (EBI)Q9HD20
FunCoupENSG00000105726
BioGRIDATP13A1
STRING (EMBL)ATP13A1
ZODIACATP13A1
Ontologies - Pathways
QuickGOQ9HD20
Ontology : AmiGOmolecular_function  calcium-transporting ATPase activity  ATP binding  endoplasmic reticulum membrane  integral component of plasma membrane  cellular calcium ion homeostasis  biological_process  manganese-transporting ATPase activity  membrane  ion transmembrane transport  intracellular membrane-bounded organelle  metal ion binding  calcium ion transmembrane transport  manganese ion transmembrane transport  ATP hydrolysis coupled cation transmembrane transport  
Ontology : EGO-EBImolecular_function  calcium-transporting ATPase activity  ATP binding  endoplasmic reticulum membrane  integral component of plasma membrane  cellular calcium ion homeostasis  biological_process  manganese-transporting ATPase activity  membrane  ion transmembrane transport  intracellular membrane-bounded organelle  metal ion binding  calcium ion transmembrane transport  manganese ion transmembrane transport  ATP hydrolysis coupled cation transmembrane transport  
NDEx NetworkATP13A1
Atlas of Cancer Signalling NetworkATP13A1
Wikipedia pathwaysATP13A1
Orthology - Evolution
OrthoDB57130
GeneTree (enSembl)ENSG00000105726
Phylogenetic Trees/Animal Genes : TreeFamATP13A1
HOVERGENQ9HD20
HOGENOMQ9HD20
Homologs : HomoloGeneATP13A1
Homology/Alignments : Family Browser (UCSC)ATP13A1
Gene fusions - Rearrangements
Tumor Fusion PortalATP13A1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerATP13A1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ATP13A1
dbVarATP13A1
ClinVarATP13A1
1000_GenomesATP13A1 
Exome Variant ServerATP13A1
ExAC (Exome Aggregation Consortium)ENSG00000105726
GNOMAD BrowserENSG00000105726
Genetic variants : HAPMAP57130
Genomic Variants (DGV)ATP13A1 [DGVbeta]
DECIPHERATP13A1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisATP13A1 
Mutations
ICGC Data PortalATP13A1 
TCGA Data PortalATP13A1 
Broad Tumor PortalATP13A1
OASIS PortalATP13A1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICATP13A1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDATP13A1
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 ATP13A1
DgiDB (Drug Gene Interaction Database)ATP13A1
DoCM (Curated mutations)ATP13A1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ATP13A1 (select a term)
intoGenATP13A1
Cancer3DATP13A1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM
Orphanet
DisGeNETATP13A1
MedgenATP13A1
Genetic Testing Registry ATP13A1
NextProtQ9HD20 [Medical]
TSGene57130
GENETestsATP13A1
Target ValidationATP13A1
Huge Navigator ATP13A1 [HugePedia]
snp3D : Map Gene to Disease57130
BioCentury BCIQATP13A1
ClinGenATP13A1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD57130
Chemical/Pharm GKB GenePA134988892
Clinical trialATP13A1
Miscellaneous
canSAR (ICR)ATP13A1 (select the gene name)
Probes
Litterature
PubMed17 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineATP13A1
EVEXATP13A1
GoPubMedATP13A1
iHOPATP13A1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Tue Nov 21 13:38:09 CET 2017

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