Atlas of Genetics and Cytogenetics in Oncology and Haematology

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ATP8B1 (ATPase phospholipid transporting 8B1)

Identity

Alias (NCBI)ATPIC
BRIC
FIC1
ICP1
PFIC
PFIC1
HGNC (Hugo) ATP8B1
HGNC Alias symbATPIC
PFIC
HGNC Previous nameFIC1
 BRIC
 PFIC1
HGNC Previous nameATPase, Class I, type 8B, member 1
 ATPase, class I, type 8B, member 1
 ATPase, aminophospholipid transporter, class I, type 8B, member 1
LocusID (NCBI) 5205
Atlas_Id 45755
Location 18q21.31  [Link to chromosome band 18q21]
Location_base_pair Starts at 57646426 and ends at 57803315 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)

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    ATPase phospholipid transporting 8B1
AliasesATPIC; BRIC; FIC1; ICP1; 
PFIC; PFIC1
GeneCards (Weizmann)ATP8B1
Ensembl hg19 (Hinxton)ENSG00000081923 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000081923 [Gene_View]  ENSG00000081923 [Sequence]  chr18:57646426-57803315 [Contig_View]  ATP8B1 [Vega]
ICGC DataPortalENSG00000081923
TCGA cBioPortalATP8B1
AceView (NCBI)ATP8B1
Genatlas (Paris)ATP8B1
SOURCE (Princeton)ATP8B1
Genetics Home Reference (NIH)ATP8B1
Genomic and cartography
GoldenPath hg38 (UCSC)ATP8B1  -     chr18:57646426-57803315 -  18q21.31   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)ATP8B1  -     18q21.31   [Description]    (hg19-Feb_2009)
GoldenPathATP8B1 - 18q21.31 [CytoView hg19]  ATP8B1 - 18q21.31 [CytoView hg38]
ImmunoBaseENSG00000081923
genome Data Viewer NCBIATP8B1 [Mapview hg19]  
OMIM147480   211600   243300   602397   
Gene and transcription
Genbank (Entrez)AA234929 AF032442 AF038007 AI625486 AI914078
RefSeq transcript (Entrez)NM_001374385 NM_001374386 NM_005603
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)ATP8B1
Alternative Splicing GalleryENSG00000081923
Gene ExpressionATP8B1 [ NCBI-GEO ]   ATP8B1 [ EBI - ARRAY_EXPRESS ]   ATP8B1 [ SEEK ]   ATP8B1 [ MEM ]
Gene Expression Viewer (FireBrowse)ATP8B1 [ Firebrowse - Broad ]
GenevisibleExpression of ATP8B1 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)5205
GTEX Portal (Tissue expression)ATP8B1
Human Protein AtlasENSG00000081923-ATP8B1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtO43520   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO43520  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO43520
Splice isoforms : SwissVarO43520
Catalytic activity : Enzyme7.6.2.1 [ Enzyme-Expasy ]   7.6.2.17.6.2.1 [ IntEnz-EBI ]   7.6.2.1 [ BRENDA ]   7.6.2.1 [ KEGG ]   [ MEROPS ]
PhosPhoSitePlusO43520
Domaine pattern : Prosite (Expaxy)ATPASE_E1_E2 (PS00154)   
Domains : Interpro (EBI)ATP8B1    ATPase_P-typ_cyto_dom_N    ATPase_P-typ_P_site    ATPase_P-typ_TM_dom_sf    ATPase_P-typ_transduc_dom_A_sf    HAD-like_sf    P-type_ATPase_IV    P-type_ATPase_N    P_typ_ATPase    P_typ_ATPase_c   
Domain families : Pfam (Sanger)PhoLip_ATPase_C (PF16212)    PhoLip_ATPase_N (PF16209)   
Domain families : Pfam (NCBI)pfam16212    pfam16209   
Conserved Domain (NCBI)ATP8B1
Blocks (Seattle)ATP8B1
SuperfamilyO43520
Human Protein Atlas [tissue]ENSG00000081923-ATP8B1 [tissue]
Peptide AtlasO43520
HPRD03867
IPIIPI00012851   
Protein Interaction databases
DIP (DOE-UCLA)O43520
IntAct (EBI)O43520
BioGRIDATP8B1
STRING (EMBL)ATP8B1
ZODIACATP8B1
Ontologies - Pathways
QuickGOO43520
Ontology : AmiGOmagnesium ion binding  protein binding  ATP binding  nucleoplasm  endoplasmic reticulum  Golgi apparatus  Golgi apparatus  trans-Golgi network  cytosol  plasma membrane  plasma membrane  plasma membrane  integral component of plasma membrane  drug transmembrane transport  Golgi organization  sensory perception of sound  bile acid metabolic process  aminophospholipid transmembrane transporter activity  bile acid and bile salt transport  apical plasma membrane  nuclear body  vestibulocochlear nerve formation  brush border membrane  stereocilium  regulation of microvillus assembly  ion transmembrane transport  phospholipid translocation  phospholipid translocation  phospholipid translocation  negative regulation of transcription, DNA-templated  inner ear receptor cell development  cardiolipin binding  
Ontology : EGO-EBImagnesium ion binding  protein binding  ATP binding  nucleoplasm  endoplasmic reticulum  Golgi apparatus  Golgi apparatus  trans-Golgi network  cytosol  plasma membrane  plasma membrane  plasma membrane  integral component of plasma membrane  drug transmembrane transport  Golgi organization  sensory perception of sound  bile acid metabolic process  aminophospholipid transmembrane transporter activity  bile acid and bile salt transport  apical plasma membrane  nuclear body  vestibulocochlear nerve formation  brush border membrane  stereocilium  regulation of microvillus assembly  ion transmembrane transport  phospholipid translocation  phospholipid translocation  phospholipid translocation  negative regulation of transcription, DNA-templated  inner ear receptor cell development  cardiolipin binding  
NDEx NetworkATP8B1
Atlas of Cancer Signalling NetworkATP8B1
Wikipedia pathwaysATP8B1
Orthology - Evolution
OrthoDB5205
GeneTree (enSembl)ENSG00000081923
Phylogenetic Trees/Animal Genes : TreeFamATP8B1
HOGENOMO43520
Homologs : HomoloGeneATP8B1
Homology/Alignments : Family Browser (UCSC)ATP8B1
Gene fusions - Rearrangements
Fusion : QuiverATP8B1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerATP8B1 [hg38]
dbVarATP8B1
ClinVarATP8B1
MonarchATP8B1
1000_GenomesATP8B1 
Exome Variant ServerATP8B1
GNOMAD BrowserENSG00000081923
Varsome BrowserATP8B1
Genomic Variants (DGV)ATP8B1 [DGVbeta]
DECIPHERATP8B1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisATP8B1 
Mutations
ICGC Data PortalATP8B1 
TCGA Data PortalATP8B1 
Broad Tumor PortalATP8B1
OASIS PortalATP8B1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICATP8B1  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DATP8B1
Mutations and Diseases : HGMDATP8B1
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
BioMutasearch ATP8B1
DgiDB (Drug Gene Interaction Database)ATP8B1
DoCM (Curated mutations)ATP8B1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ATP8B1 (select a term)
intoGenATP8B1
Cancer3DATP8B1(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM147480    211600    243300    602397   
Orphanet10933    11332    14533   
DisGeNETATP8B1
MedgenATP8B1
Genetic Testing Registry ATP8B1
NextProtO43520 [Medical]
GENETestsATP8B1
Target ValidationATP8B1
Huge Navigator ATP8B1 [HugePedia]
ClinGenATP8B1
Clinical trials, drugs, therapy
MyCancerGenomeATP8B1
Protein Interactions : CTD
Pharm GKB GenePA265
PharosO43520
Clinical trialATP8B1
Miscellaneous
canSAR (ICR)ATP8B1 (select the gene name)
HarmonizomeATP8B1
DataMed IndexATP8B1
Probes
Litterature
PubMed72 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXATP8B1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

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indexed on : Fri Jan 1 18:06:42 CET 2021
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