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ATP8A1 (ATPase phospholipid transporting 8A1)

Identity

Alias_namesATPase, aminophospholipid transporter (APLT), Class I, type 8A, member 1
ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1
Alias_symbol (synonym)ATPIA
Other aliasATPASEII
ATPP2
HGNC (Hugo) ATP8A1
LocusID (NCBI) 10396
Atlas_Id 52456
Location 4p13  [Link to chromosome band 4p13]
Location_base_pair Starts at 42408375 and ends at 42657105 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
ATP8A1 (4p13) / ATP8A1 (4p13)ATP8A1 (4p13) / LDB2 (4p15.32)ATP8A1 (4p13) / LIPC (15q21.3)
ATP8A1 (4p13) / PSMB1 (6q27)ATP8A1 (4p13) / RASGEF1B (4q21.21)ATP8A1 4p13 / LDB2 4p15.32

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)ATP8A1   13531
Cards
Entrez_Gene (NCBI)ATP8A1  10396  ATPase phospholipid transporting 8A1
AliasesATPASEII; ATPIA; ATPP2
GeneCards (Weizmann)ATP8A1
Ensembl hg19 (Hinxton)ENSG00000124406 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000124406 [Gene_View]  chr4:42408375-42657105 [Contig_View]  ATP8A1 [Vega]
ICGC DataPortalENSG00000124406
TCGA cBioPortalATP8A1
AceView (NCBI)ATP8A1
Genatlas (Paris)ATP8A1
WikiGenes10396
SOURCE (Princeton)ATP8A1
Genetics Home Reference (NIH)ATP8A1
Genomic and cartography
GoldenPath hg38 (UCSC)ATP8A1  -     chr4:42408375-42657105 -  4p13   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)ATP8A1  -     4p13   [Description]    (hg19-Feb_2009)
EnsemblATP8A1 - 4p13 [CytoView hg19]  ATP8A1 - 4p13 [CytoView hg38]
Mapping of homologs : NCBIATP8A1 [Mapview hg19]  ATP8A1 [Mapview hg38]
OMIM609542   
Gene and transcription
Genbank (Entrez)AB013452 AB209687 AF035315 AF067820 AK027252
RefSeq transcript (Entrez)NM_001105529 NM_006095
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)ATP8A1
Cluster EST : UnigeneHs.435052 [ NCBI ]
CGAP (NCI)Hs.435052
Alternative Splicing GalleryENSG00000124406
Gene ExpressionATP8A1 [ NCBI-GEO ]   ATP8A1 [ EBI - ARRAY_EXPRESS ]   ATP8A1 [ SEEK ]   ATP8A1 [ MEM ]
Gene Expression Viewer (FireBrowse)ATP8A1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)10396
GTEX Portal (Tissue expression)ATP8A1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9Y2Q0   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9Y2Q0  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9Y2Q0
Splice isoforms : SwissVarQ9Y2Q0
Catalytic activity : Enzyme3.6.3.1 [ Enzyme-Expasy ]   3.6.3.13.6.3.1 [ IntEnz-EBI ]   3.6.3.1 [ BRENDA ]   3.6.3.1 [ KEGG ]   
PhosPhoSitePlusQ9Y2Q0
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_ATPase_IV    P-type_ATPase_N    P_typ_ATPase    P_typ_ATPase_c   
Domain families : Pfam (Sanger)E1-E2_ATPase (PF00122)    PhoLip_ATPase_C (PF16212)    PhoLip_ATPase_N (PF16209)   
Domain families : Pfam (NCBI)pfam00122    pfam16212    pfam16209   
Conserved Domain (NCBI)ATP8A1
DMDM Disease mutations10396
Blocks (Seattle)ATP8A1
SuperfamilyQ9Y2Q0
Human Protein AtlasENSG00000124406
Peptide AtlasQ9Y2Q0
HPRD16527
IPIIPI00032402   IPI00221038   IPI00941654   IPI00965720   IPI00967945   IPI00965773   IPI00965467   IPI00964318   
Protein Interaction databases
DIP (DOE-UCLA)Q9Y2Q0
IntAct (EBI)Q9Y2Q0
FunCoupENSG00000124406
BioGRIDATP8A1
STRING (EMBL)ATP8A1
ZODIACATP8A1
Ontologies - Pathways
QuickGOQ9Y2Q0
Ontology : AmiGOGolgi membrane  magnesium ion binding  phospholipid-translocating ATPase activity  phospholipid-translocating ATPase activity  protein binding  ATP binding  endoplasmic reticulum  Golgi apparatus  trans-Golgi network  plasma membrane  plasma membrane  learning  membrane  integral component of membrane  cation-transporting ATPase activity  positive regulation of cell migration  ion transmembrane transport  azurophil granule membrane  specific granule membrane  chromaffin granule membrane  intracellular membrane-bounded organelle  neutrophil degranulation  phospholipid translocation  Golgi vesicle budding  positive regulation of phospholipid translocation  extracellular exosome  ATP hydrolysis coupled cation transmembrane transport  
Ontology : EGO-EBIGolgi membrane  magnesium ion binding  phospholipid-translocating ATPase activity  phospholipid-translocating ATPase activity  protein binding  ATP binding  endoplasmic reticulum  Golgi apparatus  trans-Golgi network  plasma membrane  plasma membrane  learning  membrane  integral component of membrane  cation-transporting ATPase activity  positive regulation of cell migration  ion transmembrane transport  azurophil granule membrane  specific granule membrane  chromaffin granule membrane  intracellular membrane-bounded organelle  neutrophil degranulation  phospholipid translocation  Golgi vesicle budding  positive regulation of phospholipid translocation  extracellular exosome  ATP hydrolysis coupled cation transmembrane transport  
NDEx NetworkATP8A1
Atlas of Cancer Signalling NetworkATP8A1
Wikipedia pathwaysATP8A1
Orthology - Evolution
OrthoDB10396
GeneTree (enSembl)ENSG00000124406
Phylogenetic Trees/Animal Genes : TreeFamATP8A1
HOVERGENQ9Y2Q0
HOGENOMQ9Y2Q0
Homologs : HomoloGeneATP8A1
Homology/Alignments : Family Browser (UCSC)ATP8A1
Gene fusions - Rearrangements
Fusion : MitelmanATP8A1/LDB2 [4p13/4p15.32]  
Fusion: TCGAATP8A1 4p13 LDB2 4p15.32 KIRC
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerATP8A1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ATP8A1
dbVarATP8A1
ClinVarATP8A1
1000_GenomesATP8A1 
Exome Variant ServerATP8A1
ExAC (Exome Aggregation Consortium)ATP8A1 (select the gene name)
Genetic variants : HAPMAP10396
Genomic Variants (DGV)ATP8A1 [DGVbeta]
DECIPHERATP8A1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisATP8A1 
Mutations
ICGC Data PortalATP8A1 
TCGA Data PortalATP8A1 
Broad Tumor PortalATP8A1
OASIS PortalATP8A1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICATP8A1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDATP8A1
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 ATP8A1
DgiDB (Drug Gene Interaction Database)ATP8A1
DoCM (Curated mutations)ATP8A1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ATP8A1 (select a term)
intoGenATP8A1
Cancer3DATP8A1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM609542   
Orphanet
MedgenATP8A1
Genetic Testing Registry ATP8A1
NextProtQ9Y2Q0 [Medical]
TSGene10396
GENETestsATP8A1
Huge Navigator ATP8A1 [HugePedia]
snp3D : Map Gene to Disease10396
BioCentury BCIQATP8A1
ClinGenATP8A1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD10396
Chemical/Pharm GKB GenePA25165
Clinical trialATP8A1
Miscellaneous
canSAR (ICR)ATP8A1 (select the gene name)
Probes
Litterature
PubMed21 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineATP8A1
EVEXATP8A1
GoPubMedATP8A1
iHOPATP8A1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Fri May 19 12:07:14 CEST 2017

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