Atlas of Genetics and Cytogenetics in Oncology and Haematology


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ABCA1 (ATP-binding cassette, sub-family A (ABC1), member 1)

Identity

Other namesABC-1
ABC1
CERP
HDLDT1
TGD
HGNC (Hugo) ABCA1
LocusID (NCBI) 19
Location 9q31.1
Location_base_pair Starts at 107543284 and ends at 107690527 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)ABCA1   29
Cards
Entrez_Gene (NCBI)ABCA1  19  ATP-binding cassette, sub-family A (ABC1), member 1
GeneCards (Weizmann)ABCA1
Ensembl (Hinxton)ENSG00000165029 [Gene_View]  chr9:107543284-107690527 [Contig_View]  ABCA1 [Vega]
ICGC DataPortalENSG00000165029
cBioPortalABCA1
AceView (NCBI)ABCA1
Genatlas (Paris)ABCA1
WikiGenes19
SOURCE (Princeton)NM_005502
Genomic and cartography
GoldenPath (UCSC)ABCA1  -  9q31.1   chr9:107543284-107690527 -  9q31.1   [Description]    (hg19-Feb_2009)
EnsemblABCA1 - 9q31.1 [CytoView]
Mapping of homologs : NCBIABCA1 [Mapview]
OMIM143890   205400   600046   604091   
Gene and transcription
Genbank (Entrez)AB037924 AB055982 AB208839 AB445477 AF165281
RefSeq transcript (Entrez)NM_005502
RefSeq genomic (Entrez)AC_000141 NC_000009 NC_018920 NG_007981 NT_008470 NW_001839236 NW_004929366
Consensus coding sequences : CCDS (NCBI)ABCA1
Cluster EST : UnigeneHs.659274 [ NCBI ]
CGAP (NCI)Hs.659274
Alternative Splicing : Fast-db (Paris)GSHG0031041
Alternative Splicing GalleryENSG00000165029
Gene ExpressionABCA1 [ NCBI-GEO ]     ABCA1 [ SEEK ]   ABCA1 [ MEM ]
Protein : pattern, domain, 3D structure
UniProt/SwissProtO95477 (Uniprot)
NextProtO95477  [Medical]
With graphics : InterProO95477
Splice isoforms : SwissVarO95477 (Swissvar)
Domaine pattern : Prosite (Expaxy)ABC_TRANSPORTER_1 (PS00211)    ABC_TRANSPORTER_2 (PS50893)   
Domains : Interpro (EBI)AAA+_ATPase [organisation]   ABC_A [organisation]   ABC_transporter-like [organisation]   ABC_transporter_CS [organisation]   P-loop_NTPase [organisation]  
Related proteins : CluSTrO95477
Domain families : Pfam (Sanger)ABC_tran (PF00005)   
Domain families : Pfam (NCBI)pfam00005   
Domain families : Smart (EMBL)AAA (SM00382)  
DMDM Disease mutations19
Blocks (Seattle)O95477
Human Protein AtlasENSG00000165029 [gene] [tissue] [antibody] [cell] [cancer]
Peptide AtlasO95477
HPRD02501
IPIIPI00293460   IPI00303441   IPI00642100   
Protein Interaction databases
DIP (DOE-UCLA)O95477
IntAct (EBI)O95477
FunCoupENSG00000165029
BioGRIDABCA1
InParanoidO95477
Interologous Interaction database O95477
IntegromeDBABCA1
STRING (EMBL)ABCA1
Ontologies - Pathways
Ontology : AmiGOpeptide secretion  receptor binding  protein binding  ATP binding  phospholipid binding  phospholipid transporter activity  Golgi apparatus  plasma membrane  plasma membrane  integral component of plasma membrane  ATP catabolic process  protein lipidation  phagocytosis, engulfment  lysosome organization  G-protein coupled receptor signaling pathway  response to nutrient  cholesterol metabolic process  anion transmembrane transporter activity  cell surface  negative regulation of macrophage derived foam cell differentiation  positive regulation of cholesterol efflux  negative regulation of cholesterol storage  cholesterol binding  endosomal transport  ATPase activity  cholesterol transporter activity  syntaxin binding  endocytic vesicle  positive regulation of cAMP biosynthetic process  small GTPase binding  intracellular cholesterol transport  regulation of Cdc42 protein signal transduction  cholesterol efflux  cholesterol efflux  phospholipid efflux  phospholipid efflux  apolipoprotein binding  apolipoprotein A-I binding  apolipoprotein A-I receptor activity  high-density lipoprotein particle assembly  response to laminar fluid shear stress  apolipoprotein A-I-mediated signaling pathway  lipoprotein metabolic process  response to drug  cholesterol homeostasis  reverse cholesterol transport  cellular lipid metabolic process  small molecule metabolic process  membrane raft  phospholipid translocation  phagocytic vesicle  perinuclear region of cytoplasm  interleukin-1 beta secretion  ATPase binding  phospholipid homeostasis  response to low-density lipoprotein particle  platelet dense granule organization  cellular response to lipopolysaccharide  cellular response to retinoic acid  cellular response to cholesterol  
Ontology : EGO-EBIpeptide secretion  receptor binding  protein binding  ATP binding  phospholipid binding  phospholipid transporter activity  Golgi apparatus  plasma membrane  plasma membrane  integral component of plasma membrane  ATP catabolic process  protein lipidation  phagocytosis, engulfment  lysosome organization  G-protein coupled receptor signaling pathway  response to nutrient  cholesterol metabolic process  anion transmembrane transporter activity  cell surface  negative regulation of macrophage derived foam cell differentiation  positive regulation of cholesterol efflux  negative regulation of cholesterol storage  cholesterol binding  endosomal transport  ATPase activity  cholesterol transporter activity  syntaxin binding  endocytic vesicle  positive regulation of cAMP biosynthetic process  small GTPase binding  intracellular cholesterol transport  regulation of Cdc42 protein signal transduction  cholesterol efflux  cholesterol efflux  phospholipid efflux  phospholipid efflux  apolipoprotein binding  apolipoprotein A-I binding  apolipoprotein A-I receptor activity  high-density lipoprotein particle assembly  response to laminar fluid shear stress  apolipoprotein A-I-mediated signaling pathway  lipoprotein metabolic process  response to drug  cholesterol homeostasis  reverse cholesterol transport  cellular lipid metabolic process  small molecule metabolic process  membrane raft  phospholipid translocation  phagocytic vesicle  perinuclear region of cytoplasm  interleukin-1 beta secretion  ATPase binding  phospholipid homeostasis  response to low-density lipoprotein particle  platelet dense granule organization  cellular response to lipopolysaccharide  cellular response to retinoic acid  cellular response to cholesterol  
Pathways : BIOCARTANuclear Receptors in Lipid Metabolism and Toxicity [Genes]    FXR and LXR Regulation of Cholesterol Metabolism [Genes]   
Pathways : KEGGABC transporters    Fat digestion and absorption   
Protein Interaction DatabaseABCA1
Wikipedia pathwaysABCA1
Gene fusion - rearrangments
Polymorphisms : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)ABCA1
snp3D : Map Gene to Disease19
SNP (GeneSNP Utah)ABCA1
SNP : HGBaseABCA1
Genetic variants : HAPMAPABCA1
Exome VariantABCA1
1000_GenomesABCA1 
ICGC programENSG00000165029 
Somatic Mutations in Cancer : COSMICABCA1 
CONAN: Copy Number AnalysisABCA1 
Mutations and Diseases : HGMDABCA1
Genomic VariantsABCA1  ABCA1 [DGVbeta]
dbVarABCA1
ClinVarABCA1
Pred. of missensesPolyPhen-2  SIFT(SG)  SIFT(JCVI)  Align-GVGD  MutAssessor  Mutanalyser  
Pred. splicesGeneSplicer  Human Splicing Finder  MaxEntScan  
Diseases
OMIM143890    205400    600046    604091   
MedgenABCA1
GENETestsABCA1
Disease Genetic AssociationABCA1
Huge Navigator ABCA1 [HugePedia]  ABCA1 [HugeCancerGEM]
General knowledge
Homologs : HomoloGeneABCA1
Homology/Alignments : Family Browser (UCSC)ABCA1
Phylogenetic Trees/Animal Genes : TreeFamABCA1
Chemical/Protein Interactions : CTD19
Chemical/Pharm GKB GenePA24373
Clinical trialABCA1
Cancer Resource (Charite)ENSG00000165029
Other databases
Probes
Litterature
PubMed499 Pubmed reference(s) in Entrez
CoreMineABCA1
iHOPABCA1
OncoSearchABCA1
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 : Wed Jul 30 13:41:11 CEST 2014

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