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ATP8B3 (ATPase phospholipid transporting 8B3)

Identity

Alias_namesATPase, Class I, type 8B, member 3
ATPase, class I, type 8B, member 3
ATPase, aminophospholipid transporter, class I, type 8B, member 3
Alias_symbol (synonym)ATPIK
Other alias
HGNC (Hugo) ATP8B3
LocusID (NCBI) 148229
Atlas_Id 50433
Location 19p13.3  [Link to chromosome band 19p13]
Location_base_pair Starts at 1782075 and ends at 1812237 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
ATP8B3 (19p13.3) / TFAM (10q21.1)

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)ATP8B3   13535
Cards
Entrez_Gene (NCBI)ATP8B3  148229  ATPase phospholipid transporting 8B3
AliasesATPIK
GeneCards (Weizmann)ATP8B3
Ensembl hg19 (Hinxton)ENSG00000130270 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000130270 [Gene_View]  chr19:1782075-1812237 [Contig_View]  ATP8B3 [Vega]
ICGC DataPortalENSG00000130270
TCGA cBioPortalATP8B3
AceView (NCBI)ATP8B3
Genatlas (Paris)ATP8B3
WikiGenes148229
SOURCE (Princeton)ATP8B3
Genetics Home Reference (NIH)ATP8B3
Genomic and cartography
GoldenPath hg38 (UCSC)ATP8B3  -     chr19:1782075-1812237 -  19p13.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)ATP8B3  -     19p13.3   [Description]    (hg19-Feb_2009)
EnsemblATP8B3 - 19p13.3 [CytoView hg19]  ATP8B3 - 19p13.3 [CytoView hg38]
Mapping of homologs : NCBIATP8B3 [Mapview hg19]  ATP8B3 [Mapview hg38]
OMIM605866   
Gene and transcription
Genbank (Entrez)AK057452 AK058189 AK125225 AK125969 AW444739
RefSeq transcript (Entrez)NM_001178002 NM_138813
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)ATP8B3
Cluster EST : UnigeneHs.306212 [ NCBI ]
CGAP (NCI)Hs.306212
Alternative Splicing GalleryENSG00000130270
Gene ExpressionATP8B3 [ NCBI-GEO ]   ATP8B3 [ EBI - ARRAY_EXPRESS ]   ATP8B3 [ SEEK ]   ATP8B3 [ MEM ]
Gene Expression Viewer (FireBrowse)ATP8B3 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)148229
GTEX Portal (Tissue expression)ATP8B3
Protein : pattern, domain, 3D structure
UniProt/SwissProtO60423   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO60423  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO60423
Splice isoforms : SwissVarO60423
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 ]   
PhosPhoSitePlusO60423
Domaine pattern : Prosite (Expaxy)ATPASE_E1_E2 (PS00154)   
Domains : Interpro (EBI)ATP8B3    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)ATP8B3
DMDM Disease mutations148229
Blocks (Seattle)ATP8B3
SuperfamilyO60423
Human Protein AtlasENSG00000130270
Peptide AtlasO60423
HPRD05793
IPIIPI00237913   IPI00216974   IPI00065053   IPI01012878   IPI01013240   IPI00642932   IPI01013980   
Protein Interaction databases
DIP (DOE-UCLA)O60423
IntAct (EBI)O60423
FunCoupENSG00000130270
BioGRIDATP8B3
STRING (EMBL)ATP8B3
ZODIACATP8B3
Ontologies - Pathways
QuickGOO60423
Ontology : AmiGOmagnesium ion binding  acrosomal vesicle  acrosomal membrane  phospholipid-translocating ATPase activity  ATP binding  endoplasmic reticulum membrane  Golgi apparatus  plasma membrane  Golgi organization  binding of sperm to zona pellucida  integral component of membrane  phospholipid translocation  
Ontology : EGO-EBImagnesium ion binding  acrosomal vesicle  acrosomal membrane  phospholipid-translocating ATPase activity  ATP binding  endoplasmic reticulum membrane  Golgi apparatus  plasma membrane  Golgi organization  binding of sperm to zona pellucida  integral component of membrane  phospholipid translocation  
NDEx NetworkATP8B3
Atlas of Cancer Signalling NetworkATP8B3
Wikipedia pathwaysATP8B3
Orthology - Evolution
OrthoDB148229
GeneTree (enSembl)ENSG00000130270
Phylogenetic Trees/Animal Genes : TreeFamATP8B3
HOVERGENO60423
HOGENOMO60423
Homologs : HomoloGeneATP8B3
Homology/Alignments : Family Browser (UCSC)ATP8B3
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerATP8B3 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ATP8B3
dbVarATP8B3
ClinVarATP8B3
1000_GenomesATP8B3 
Exome Variant ServerATP8B3
ExAC (Exome Aggregation Consortium)ATP8B3 (select the gene name)
Genetic variants : HAPMAP148229
Genomic Variants (DGV)ATP8B3 [DGVbeta]
DECIPHERATP8B3 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisATP8B3 
Mutations
ICGC Data PortalATP8B3 
TCGA Data PortalATP8B3 
Broad Tumor PortalATP8B3
OASIS PortalATP8B3 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICATP8B3  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDATP8B3
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 ATP8B3
DgiDB (Drug Gene Interaction Database)ATP8B3
DoCM (Curated mutations)ATP8B3 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ATP8B3 (select a term)
intoGenATP8B3
Cancer3DATP8B3(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM605866   
Orphanet
MedgenATP8B3
Genetic Testing Registry ATP8B3
NextProtO60423 [Medical]
TSGene148229
GENETestsATP8B3
Target ValidationATP8B3
Huge Navigator ATP8B3 [HugePedia]
snp3D : Map Gene to Disease148229
BioCentury BCIQATP8B3
ClinGenATP8B3
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD148229
Chemical/Pharm GKB GenePA25168
Clinical trialATP8B3
Miscellaneous
canSAR (ICR)ATP8B3 (select the gene name)
Probes
Litterature
PubMed7 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineATP8B3
EVEXATP8B3
GoPubMedATP8B3
iHOPATP8B3
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 12:24:59 CEST 2017

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