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ABCA5 (ATP binding cassette subfamily A member 5)

Identity

Alias_namesATP-binding cassette
Alias_symbol (synonym)EST90625
Other aliasABC13
HGNC (Hugo) ABCA5
LocusID (NCBI) 23461
Atlas_Id 47579
Location 17q24.3  [Link to chromosome band 17q24]
Location_base_pair Starts at 69244435 and ends at 69315633 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
ABCA5 (17q24.3) / APOL3 (22q12.3)ABCA5 (17q24.3) / BCAS3 (17q23.2)ABCA5 (17q24.3) / CENPP (9q22.31)
ABCA5 (17q24.3) / PPP4R1L (20q13.32)ABCA5 (17q24.3) / WDR55 (5q31.3)FOXK2 (17q25.3) / ABCA5 (17q24.3)
ABCA5 17q24.3 / BCAS3 17q23.2FOXK2 17q25.3 / ABCA5 17q24.3

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)ABCA5   35
Cards
Entrez_Gene (NCBI)ABCA5  23461  ATP binding cassette subfamily A member 5
AliasesABC13; EST90625
GeneCards (Weizmann)ABCA5
Ensembl hg19 (Hinxton)ENSG00000154265 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000154265 [Gene_View]  chr17:69244435-69315633 [Contig_View]  ABCA5 [Vega]
ICGC DataPortalENSG00000154265
TCGA cBioPortalABCA5
AceView (NCBI)ABCA5
Genatlas (Paris)ABCA5
WikiGenes23461
SOURCE (Princeton)ABCA5
Genetics Home Reference (NIH)ABCA5
Genomic and cartography
GoldenPath hg38 (UCSC)ABCA5  -     chr17:69244435-69315633 -  17q24.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)ABCA5  -     17q24.3   [Description]    (hg19-Feb_2009)
EnsemblABCA5 - 17q24.3 [CytoView hg19]  ABCA5 - 17q24.3 [CytoView hg38]
Mapping of homologs : NCBIABCA5 [Mapview hg19]  ABCA5 [Mapview hg38]
OMIM612503   
Gene and transcription
Genbank (Entrez)AB067475 AJ275973 AJ512612 AK056533 AK058170
RefSeq transcript (Entrez)NM_018672 NM_172232
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)ABCA5
Cluster EST : UnigeneHs.731824 [ NCBI ]
CGAP (NCI)Hs.731824
Alternative Splicing GalleryENSG00000154265
Gene ExpressionABCA5 [ NCBI-GEO ]   ABCA5 [ EBI - ARRAY_EXPRESS ]   ABCA5 [ SEEK ]   ABCA5 [ MEM ]
Gene Expression Viewer (FireBrowse)ABCA5 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)23461
GTEX Portal (Tissue expression)ABCA5
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ8WWZ7   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ8WWZ7  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ8WWZ7
Splice isoforms : SwissVarQ8WWZ7
PhosPhoSitePlusQ8WWZ7
Domaine pattern : Prosite (Expaxy)ABC_TRANSPORTER_1 (PS00211)    ABC_TRANSPORTER_2 (PS50893)   
Domains : Interpro (EBI)AAA+_ATPase    ABC_A    ABC_transporter-like    ABC_transporter_CS    ABCA5    P-loop_NTPase   
Domain families : Pfam (Sanger)ABC_tran (PF00005)   
Domain families : Pfam (NCBI)pfam00005   
Domain families : Smart (EMBL)AAA (SM00382)  
Conserved Domain (NCBI)ABCA5
DMDM Disease mutations23461
Blocks (Seattle)ABCA5
SuperfamilyQ8WWZ7
Human Protein AtlasENSG00000154265
Peptide AtlasQ8WWZ7
HPRD09789
IPIIPI00292012   IPI00786993   IPI00788065   IPI00874173   
Protein Interaction databases
DIP (DOE-UCLA)Q8WWZ7
IntAct (EBI)Q8WWZ7
FunCoupENSG00000154265
BioGRIDABCA5
STRING (EMBL)ABCA5
ZODIACABCA5
Ontologies - Pathways
QuickGOQ8WWZ7
Ontology : AmiGOGolgi membrane  lipid transporter activity  ATP binding  lysosome  lysosomal membrane  late endosome  lipid transport  negative regulation of macrophage derived foam cell differentiation  integral component of membrane  late endosome membrane  cholesterol efflux  high-density lipoprotein particle remodeling  ATPase activity, coupled to transmembrane movement of substances  intracellular membrane-bounded organelle  reverse cholesterol transport  transmembrane transport  
Ontology : EGO-EBIGolgi membrane  lipid transporter activity  ATP binding  lysosome  lysosomal membrane  late endosome  lipid transport  negative regulation of macrophage derived foam cell differentiation  integral component of membrane  late endosome membrane  cholesterol efflux  high-density lipoprotein particle remodeling  ATPase activity, coupled to transmembrane movement of substances  intracellular membrane-bounded organelle  reverse cholesterol transport  transmembrane transport  
Pathways : KEGGABC transporters   
NDEx NetworkABCA5
Atlas of Cancer Signalling NetworkABCA5
Wikipedia pathwaysABCA5
Orthology - Evolution
OrthoDB23461
GeneTree (enSembl)ENSG00000154265
Phylogenetic Trees/Animal Genes : TreeFamABCA5
HOVERGENQ8WWZ7
HOGENOMQ8WWZ7
Homologs : HomoloGeneABCA5
Homology/Alignments : Family Browser (UCSC)ABCA5
Gene fusions - Rearrangements
Fusion : MitelmanABCA5/BCAS3 [17q24.3/17q23.2]  
Fusion : MitelmanABCA5/PPP4R1L [17q24.3/20q13.32]  [t(17;20)(q24;q13)]  
Fusion : MitelmanFOXK2/ABCA5 [17q25.3/17q24.3]  [t(17;17)(q24;q25)]  
Fusion: TCGAABCA5 17q24.3 BCAS3 17q23.2 BRCA
Fusion: TCGAFOXK2 17q25.3 ABCA5 17q24.3 BRCA
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerABCA5 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ABCA5
dbVarABCA5
ClinVarABCA5
1000_GenomesABCA5 
Exome Variant ServerABCA5
ExAC (Exome Aggregation Consortium)ABCA5 (select the gene name)
Genetic variants : HAPMAP23461
Genomic Variants (DGV)ABCA5 [DGVbeta]
DECIPHERABCA5 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisABCA5 
Mutations
ICGC Data PortalABCA5 
TCGA Data PortalABCA5 
Broad Tumor PortalABCA5
OASIS PortalABCA5 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICABCA5  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDABCA5
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 ABCA5
DgiDB (Drug Gene Interaction Database)ABCA5
DoCM (Curated mutations)ABCA5 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ABCA5 (select a term)
intoGenABCA5
Cancer3DABCA5(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM612503   
Orphanet1957   
MedgenABCA5
Genetic Testing Registry ABCA5
NextProtQ8WWZ7 [Medical]
TSGene23461
GENETestsABCA5
Target ValidationABCA5
Huge Navigator ABCA5 [HugePedia]
snp3D : Map Gene to Disease23461
BioCentury BCIQABCA5
ClinGenABCA5
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD23461
Chemical/Pharm GKB GenePA24380
Clinical trialABCA5
Miscellaneous
canSAR (ICR)ABCA5 (select the gene name)
Probes
Litterature
PubMed24 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineABCA5
EVEXABCA5
GoPubMedABCA5
iHOPABCA5
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 12:22:17 CEST 2017

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