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ABCG1 (ATP binding cassette subfamily G member 1)

Identity

Alias_namesATP-binding cassette
Alias_symbol (synonym)ABC8
Other aliasWHITE1
HGNC (Hugo) ABCG1
LocusID (NCBI) 9619
Atlas_Id 54096
Location 21q22.3  [Link to chromosome band 21q22]
Location_base_pair Starts at 42219157 and ends at 42297244 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
ACSBG1 (15q25.1) / ABCG1 (21q22.3)BRWD1 (21q22.2) / ABCG1 (21q22.3)PDE9A (21q22.3) / ABCG1 (21q22.3)
PLOD2 (3q24) / ABCG1 (21q22.3)SLC37A1 (21q22.3) / ABCG1 (21q22.3)BRWD1 21q22.2 / ABCG1 21q22.3
PDE9A 21q22.3 / ABCG1 21q22.3PLOD2 3q24 / ABCG1 21q22.3

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)ABCG1   73
Cards
Entrez_Gene (NCBI)ABCG1  9619  ATP binding cassette subfamily G member 1
AliasesABC8; WHITE1
GeneCards (Weizmann)ABCG1
Ensembl hg19 (Hinxton)ENSG00000160179 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000160179 [Gene_View]  chr21:42219157-42297244 [Contig_View]  ABCG1 [Vega]
ICGC DataPortalENSG00000160179
TCGA cBioPortalABCG1
AceView (NCBI)ABCG1
Genatlas (Paris)ABCG1
WikiGenes9619
SOURCE (Princeton)ABCG1
Genetics Home Reference (NIH)ABCG1
Genomic and cartography
GoldenPath hg38 (UCSC)ABCG1  -     chr21:42219157-42297244 +  21q22.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)ABCG1  -     21q22.3   [Description]    (hg19-Feb_2009)
EnsemblABCG1 - 21q22.3 [CytoView hg19]  ABCG1 - 21q22.3 [CytoView hg38]
Mapping of homologs : NCBIABCG1 [Mapview hg19]  ABCG1 [Mapview hg38]
OMIM603076   
Gene and transcription
Genbank (Entrez)AF038175 AF086547 AF323660 AF323661 AF323662
RefSeq transcript (Entrez)NM_004915 NM_016818 NM_207174 NM_207627 NM_207628 NM_207629 NM_207630
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)ABCG1
Cluster EST : UnigeneHs.418279 [ NCBI ]
CGAP (NCI)Hs.418279
Alternative Splicing GalleryENSG00000160179
Gene ExpressionABCG1 [ NCBI-GEO ]   ABCG1 [ EBI - ARRAY_EXPRESS ]   ABCG1 [ SEEK ]   ABCG1 [ MEM ]
Gene Expression Viewer (FireBrowse)ABCG1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)9619
GTEX Portal (Tissue expression)ABCG1
Protein : pattern, domain, 3D structure
UniProt/SwissProtP45844   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP45844  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP45844
Splice isoforms : SwissVarP45844
PhosPhoSitePlusP45844
Domaine pattern : Prosite (Expaxy)ABC_TRANSPORTER_1 (PS00211)    ABC_TRANSPORTER_2 (PS50893)   
Domains : Interpro (EBI)AAA+_ATPase    ABC_2_trans    ABC_transporter-like    ABC_transporter_CS    ABCG1    P-loop_NTPase    Pigment_permease   
Domain families : Pfam (Sanger)ABC2_membrane (PF01061)    ABC_tran (PF00005)   
Domain families : Pfam (NCBI)pfam01061    pfam00005   
Domain families : Smart (EMBL)AAA (SM00382)  
Conserved Domain (NCBI)ABCG1
DMDM Disease mutations9619
Blocks (Seattle)ABCG1
SuperfamilyP45844
Human Protein AtlasENSG00000160179
Peptide AtlasP45844
HPRD04355
IPIIPI00220758   IPI00220759   IPI00220760   IPI00220762   IPI00333761   IPI00335646   IPI00024089   IPI00414196   IPI00790641   IPI00916852   IPI00916677   
Protein Interaction databases
DIP (DOE-UCLA)P45844
IntAct (EBI)P45844
FunCoupENSG00000160179
BioGRIDABCG1
STRING (EMBL)ABCG1
ZODIACABCG1
Ontologies - Pathways
QuickGOP45844
Ontology : AmiGOGolgi membrane  ATP binding  phospholipid binding  phospholipid transporter activity  mitochondrion  endosome  endoplasmic reticulum membrane  Golgi apparatus  plasma membrane  plasma membrane  integral component of plasma membrane  regulation of transcription, DNA-templated  cholesterol metabolic process  detection of hormone stimulus  external side of plasma membrane  response to organic substance  negative regulation of macrophage derived foam cell differentiation  regulation of cholesterol esterification  positive regulation of cholesterol efflux  negative regulation of cholesterol storage  cholesterol binding  integral component of membrane  cholesterol transporter activity  cholesterol transporter activity  toxin transporter activity  intracellular cholesterol transport  cholesterol efflux  phospholipid efflux  response to lipid  sterol-transporting ATPase activity  low-density lipoprotein particle remodeling  high-density lipoprotein particle remodeling  glycoprotein transport  glycoprotein transporter activity  lipoprotein metabolic process  cholesterol homeostasis  protein homodimerization activity  amyloid precursor protein catabolic process  ADP binding  reverse cholesterol transport  positive regulation of cholesterol biosynthetic process  protein heterodimerization activity  protein dimerization activity  recycling endosome  transmembrane transport  phospholipid homeostasis  response to high density lipoprotein particle  toxin transport  
Ontology : EGO-EBIGolgi membrane  ATP binding  phospholipid binding  phospholipid transporter activity  mitochondrion  endosome  endoplasmic reticulum membrane  Golgi apparatus  plasma membrane  plasma membrane  integral component of plasma membrane  regulation of transcription, DNA-templated  cholesterol metabolic process  detection of hormone stimulus  external side of plasma membrane  response to organic substance  negative regulation of macrophage derived foam cell differentiation  regulation of cholesterol esterification  positive regulation of cholesterol efflux  negative regulation of cholesterol storage  cholesterol binding  integral component of membrane  cholesterol transporter activity  cholesterol transporter activity  toxin transporter activity  intracellular cholesterol transport  cholesterol efflux  phospholipid efflux  response to lipid  sterol-transporting ATPase activity  low-density lipoprotein particle remodeling  high-density lipoprotein particle remodeling  glycoprotein transport  glycoprotein transporter activity  lipoprotein metabolic process  cholesterol homeostasis  protein homodimerization activity  amyloid precursor protein catabolic process  ADP binding  reverse cholesterol transport  positive regulation of cholesterol biosynthetic process  protein heterodimerization activity  protein dimerization activity  recycling endosome  transmembrane transport  phospholipid homeostasis  response to high density lipoprotein particle  toxin transport  
Pathways : BIOCARTANuclear Receptors in Lipid Metabolism and Toxicity [Genes]   
Pathways : KEGGABC transporters   
NDEx NetworkABCG1
Atlas of Cancer Signalling NetworkABCG1
Wikipedia pathwaysABCG1
Orthology - Evolution
OrthoDB9619
GeneTree (enSembl)ENSG00000160179
Phylogenetic Trees/Animal Genes : TreeFamABCG1
HOVERGENP45844
HOGENOMP45844
Homologs : HomoloGeneABCG1
Homology/Alignments : Family Browser (UCSC)ABCG1
Gene fusions - Rearrangements
Fusion : MitelmanBRWD1/ABCG1 [21q22.2/21q22.3]  [t(21;21)(q22;q22)]  
Fusion : MitelmanPDE9A/ABCG1 [21q22.3/21q22.3]  [t(21;21)(q22;q22)]  
Fusion : MitelmanPLOD2/ABCG1 [3q24/21q22.3]  [t(3;21)(q24;q22)]  
Fusion : MitelmanSLC37A1/ABCG1 [21q22.3/21q22.3]  [t(21;21)(q22;q22)]  
Fusion: TCGABRWD1 21q22.2 ABCG1 21q22.3 BRCA
Fusion: TCGAPDE9A 21q22.3 ABCG1 21q22.3 LUAD
Fusion: TCGAPLOD2 3q24 ABCG1 21q22.3 BRCA
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerABCG1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ABCG1
dbVarABCG1
ClinVarABCG1
1000_GenomesABCG1 
Exome Variant ServerABCG1
ExAC (Exome Aggregation Consortium)ABCG1 (select the gene name)
Genetic variants : HAPMAP9619
Genomic Variants (DGV)ABCG1 [DGVbeta]
DECIPHERABCG1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisABCG1 
Mutations
ICGC Data PortalABCG1 
TCGA Data PortalABCG1 
Broad Tumor PortalABCG1
OASIS PortalABCG1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICABCG1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDABCG1
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 ABCG1
DgiDB (Drug Gene Interaction Database)ABCG1
DoCM (Curated mutations)ABCG1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ABCG1 (select a term)
intoGenABCG1
Cancer3DABCG1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM603076   
Orphanet
MedgenABCG1
Genetic Testing Registry ABCG1
NextProtP45844 [Medical]
TSGene9619
GENETestsABCG1
Huge Navigator ABCG1 [HugePedia]
snp3D : Map Gene to Disease9619
BioCentury BCIQABCG1
ClinGenABCG1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD9619
Chemical/Pharm GKB GenePA24408
Clinical trialABCG1
Miscellaneous
canSAR (ICR)ABCG1 (select the gene name)
Probes
Litterature
PubMed126 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineABCG1
EVEXABCG1
GoPubMedABCG1
iHOPABCG1
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 : Fri May 19 12:04:36 CEST 2017

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