Atlas of Genetics and Cytogenetics in Oncology and Haematology


Home   Genes   Leukemias   Solid Tumours   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

X Y 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 NA

ATP8B1 (ATPase, aminophospholipid transporter, class I, type 8B, member 1)

Identity

Other namesATPIC
BRIC
FIC1
ICP1
PFIC
PFIC1
HGNC (Hugo) ATP8B1
LocusID (NCBI) 5205
Location 18q21.31
Location_base_pair Starts at 55313659 and ends at 55470327 bp from pter ( according to hg19-Feb_2009)
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)ATP8B1   3706
Cards
Entrez_Gene (NCBI)ATP8B1  5205  ATPase, aminophospholipid transporter, class I, type 8B, member 1
GeneCards (Weizmann)ATP8B1
Ensembl (Hinxton)ENSG00000081923 [Gene_View]  chr18:55313659-55470327 [Contig_View]  ATP8B1 [Vega]
ICGC DataPortalENSG00000081923
AceView (NCBI)ATP8B1
Genatlas (Paris)ATP8B1
WikiGenes5205
SOURCE (Princeton)NM_005603
Genomic and cartography
GoldenPath (UCSC)ATP8B1  -  18q21.31   chr18:55313659-55470327 -  18q21.31   [Description]    (hg19-Feb_2009)
EnsemblATP8B1 - 18q21.31 [CytoView]
Mapping of homologs : NCBIATP8B1 [Mapview]
OMIM147480   211600   243300   602397   
Gene and transcription
Genbank (Entrez)AA234929 AF032442 AF038007 AI625486 AI914078
RefSeq transcript (Entrez)NM_005603
RefSeq genomic (Entrez)AC_000150 NC_000018 NC_018929 NG_007148 NT_010966 NW_001838469 NW_004929411
Consensus coding sequences : CCDS (NCBI)ATP8B1
Cluster EST : UnigeneHs.216623 [ NCBI ]
CGAP (NCI)Hs.216623
Alternative Splicing : Fast-db (Paris)GSHG0014329
Alternative Splicing GalleryENSG00000081923
Gene ExpressionATP8B1 [ NCBI-GEO ]     ATP8B1 [ SEEK ]   ATP8B1 [ MEM ]
Protein : pattern, domain, 3D structure
UniProt/SwissProtO43520 (Uniprot)
NextProtO43520  [Medical]
With graphics : InterProO43520
Splice isoforms : SwissVarO43520 (Swissvar)
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 ]   
Domaine pattern : Prosite (Expaxy)ATPASE_E1_E2 (PS00154)   
Domains : Interpro (EBI)ATPase_P-typ_cyto_domN    ATPase_P-typ_P_site    ATPase_P-typ_Plipid-transp    ATPase_P-typ_transduc_dom_A    Cation_transp_P_typ_ATPase    HAD-like_dom   
Related proteins : CluSTrO43520
Domain families : Pfam (Sanger)E1-E2_ATPase (PF00122)   
Domain families : Pfam (NCBI)pfam00122   
DMDM Disease mutations5205
Blocks (Seattle)O43520
Human Protein AtlasENSG00000081923
Peptide AtlasO43520
HPRD03867
IPIIPI00012851   
Protein Interaction databases
DIP (DOE-UCLA)O43520
IntAct (EBI)O43520
FunCoupENSG00000081923
BioGRIDATP8B1
InParanoidO43520
Interologous Interaction database O43520
IntegromeDBATP8B1
STRING (EMBL)ATP8B1
Ontologies - Pathways
Ontology : AmiGOmagnesium ion binding  phospholipid-translocating ATPase activity  protein binding  ATP binding  endoplasmic reticulum  Golgi apparatus  plasma membrane  plasma membrane  integral component of plasma membrane  ATP catabolic process  cation transport  drug transmembrane transport  sensory perception of sound  bile acid metabolic process  bile acid and bile salt transport  apical plasma membrane  ATPase activity  cation-transporting ATPase activity  brush border membrane  stereocilium  regulation of microvillus assembly  ion transmembrane transport  phospholipid translocation  phospholipid translocation  negative regulation of transcription, DNA-templated  transmembrane transport  
Ontology : EGO-EBImagnesium ion binding  phospholipid-translocating ATPase activity  protein binding  ATP binding  endoplasmic reticulum  Golgi apparatus  plasma membrane  plasma membrane  integral component of plasma membrane  ATP catabolic process  cation transport  drug transmembrane transport  sensory perception of sound  bile acid metabolic process  bile acid and bile salt transport  apical plasma membrane  ATPase activity  cation-transporting ATPase activity  brush border membrane  stereocilium  regulation of microvillus assembly  ion transmembrane transport  phospholipid translocation  phospholipid translocation  negative regulation of transcription, DNA-templated  transmembrane transport  
Protein Interaction DatabaseATP8B1
Wikipedia pathwaysATP8B1
Gene fusion - rearrangments
Polymorphisms : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)ATP8B1
SNP (GeneSNP Utah)ATP8B1
SNP : HGBaseATP8B1
Genetic variants : HAPMAPATP8B1
1000_GenomesATP8B1 
ICGC programENSG00000081923 
CONAN: Copy Number AnalysisATP8B1 
Somatic Mutations in Cancer : COSMICATP8B1 
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
LOVD (Leiden Open Variation Database)**PUBLIC** CCHMC Molecular Genetics Laboratory Mutation Database
Mutations and Diseases : HGMDATP8B1
OMIM147480    211600    243300    602397   
MedgenATP8B1
GENETestsATP8B1
Disease Genetic AssociationATP8B1
Huge Navigator ATP8B1 [HugePedia]  ATP8B1 [HugeCancerGEM]
Genomic VariantsATP8B1  ATP8B1 [DGVbeta]
Exome VariantATP8B1
dbVarATP8B1
ClinVarATP8B1
snp3D : Map Gene to Disease5205
General knowledge
Homologs : HomoloGeneATP8B1
Homology/Alignments : Family Browser (UCSC)ATP8B1
Phylogenetic Trees/Animal Genes : TreeFamATP8B1
Chemical/Protein Interactions : CTD5205
Chemical/Pharm GKB GenePA265
Clinical trialATP8B1
Cancer Resource (Charite)ENSG00000081923
Other databases
Probes
Litterature
PubMed50 Pubmed reference(s) in Entrez
CoreMineATP8B1
iHOPATP8B1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

Contributor(s)

Written09-2002Dessen P, Le Minor S
Updated12-2013Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Mon Oct 13 12:33:51 CEST 2014

Home   Genes   Leukemias   Solid Tumours   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

For comments and suggestions or contributions, please contact us

jlhuret@AtlasGeneticsOncology.org.