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ABCD1 (ATP binding cassette subfamily D member 1)

Identity

Other namesABC42
ALD
ALDP
AMN
HGNC (Hugo) ABCD1
LocusID (NCBI) 215
Atlas_Id 51425
Location Xq28  [Link to chromosome band Xq28]
Location_base_pair Starts at 152990323 and ends at 153010216 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
ABCD1 (Xq28) / ABCD1 (Xq28)ABCD1 (Xq28) / TEX28 (Xq28)

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)ABCD1   61
Cards
Entrez_Gene (NCBI)ABCD1  215  ATP binding cassette subfamily D member 1
AliasesABC42; ALD; ALDP; AMN
GeneCards (Weizmann)ABCD1
Ensembl hg19 (Hinxton)ENSG00000101986 [Gene_View]  chrX:152990323-153010216 [Contig_View]  ABCD1 [Vega]
Ensembl hg38 (Hinxton)ENSG00000101986 [Gene_View]  chrX:152990323-153010216 [Contig_View]  ABCD1 [Vega]
ICGC DataPortalENSG00000101986
TCGA cBioPortalABCD1
AceView (NCBI)ABCD1
Genatlas (Paris)ABCD1
WikiGenes215
SOURCE (Princeton)ABCD1
Genomic and cartography
GoldenPath hg19 (UCSC)ABCD1  -     chrX:152990323-153010216 +  Xq28   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)ABCD1  -     Xq28   [Description]    (hg38-Dec_2013)
EnsemblABCD1 - Xq28 [CytoView hg19]  ABCD1 - Xq28 [CytoView hg38]
Mapping of homologs : NCBIABCD1 [Mapview hg19]  ABCD1 [Mapview hg38]
OMIM300100   300371   
Gene and transcription
Genbank (Entrez)AY421736 AY421737 AY421738 BC015541 BC025358
RefSeq transcript (Entrez)NM_000033
RefSeq genomic (Entrez)NC_000023 NC_018934 NG_009022 NT_011681 NW_004929448
Consensus coding sequences : CCDS (NCBI)ABCD1
Cluster EST : UnigeneHs.159546 [ NCBI ]
CGAP (NCI)Hs.159546
Alternative Splicing GalleryENSG00000101986
Gene ExpressionABCD1 [ NCBI-GEO ]   ABCD1 [ EBI - ARRAY_EXPRESS ]   ABCD1 [ SEEK ]   ABCD1 [ MEM ]
Gene Expression Viewer (FireBrowse)ABCD1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)215
GTEX Portal (Tissue expression)ABCD1
Protein : pattern, domain, 3D structure
UniProt/SwissProtP33897 (Uniprot)
NextProtP33897  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP33897
Splice isoforms : SwissVarP33897 (Swissvar)
PhosPhoSitePlusP33897
Domaine pattern : Prosite (Expaxy)ABC_TM1F (PS50929)    ABC_TRANSPORTER_1 (PS00211)    ABC_TRANSPORTER_2 (PS50893)   
Domains : Interpro (EBI)AAA+_ATPase    ABC1_TM_dom    ABC_transporter-like    ABC_transporter_CS    ALDP    FA_transporter    P-loop_NTPase   
Domain families : Pfam (Sanger)ABC_membrane_2 (PF06472)    ABC_tran (PF00005)   
Domain families : Pfam (NCBI)pfam06472    pfam00005   
Domain families : Smart (EMBL)AAA (SM00382)  
DMDM Disease mutations215
Blocks (Seattle)ABCD1
SuperfamilyP33897
Human Protein AtlasENSG00000101986
Peptide AtlasP33897
HPRD02300
IPIIPI00291373   IPI00641876   IPI00641535   
Protein Interaction databases
DIP (DOE-UCLA)P33897
IntAct (EBI)P33897
FunCoupENSG00000101986
BioGRIDABCD1
STRING (EMBL)ABCD1
ZODIACABCD1
Ontologies - Pathways
QuickGOP33897
Ontology : AmiGOtransporter activity  long-chain fatty acid transporter activity  long-chain fatty acid transporter activity  peroxisomal fatty-acyl-CoA transporter activity  peroxisomal fatty-acyl-CoA transporter activity  protein binding  ATP binding  cytoplasm  mitochondrion  peroxisome  peroxisomal membrane  peroxisomal membrane  integral component of peroxisomal membrane  integral component of peroxisomal membrane  cytosol  fatty acid beta-oxidation  fatty acid beta-oxidation  peroxisome organization  peroxisome organization  peroxisomal long-chain fatty acid import  peroxisomal membrane transport  membrane  ATPase activity  enzyme binding  fatty acid beta-oxidation using acyl-CoA oxidase  alpha-linolenic acid metabolic process  ATPase activity, coupled to transmembrane movement of substances  long-chain fatty acid catabolic process  very long-chain fatty acid catabolic process  very long-chain fatty acid catabolic process  identical protein binding  protein homodimerization activity  linoleic acid metabolic process  perinuclear region of cytoplasm  transmembrane transport  
Ontology : EGO-EBItransporter activity  long-chain fatty acid transporter activity  long-chain fatty acid transporter activity  peroxisomal fatty-acyl-CoA transporter activity  peroxisomal fatty-acyl-CoA transporter activity  protein binding  ATP binding  cytoplasm  mitochondrion  peroxisome  peroxisomal membrane  peroxisomal membrane  integral component of peroxisomal membrane  integral component of peroxisomal membrane  cytosol  fatty acid beta-oxidation  fatty acid beta-oxidation  peroxisome organization  peroxisome organization  peroxisomal long-chain fatty acid import  peroxisomal membrane transport  membrane  ATPase activity  enzyme binding  fatty acid beta-oxidation using acyl-CoA oxidase  alpha-linolenic acid metabolic process  ATPase activity, coupled to transmembrane movement of substances  long-chain fatty acid catabolic process  very long-chain fatty acid catabolic process  very long-chain fatty acid catabolic process  identical protein binding  protein homodimerization activity  linoleic acid metabolic process  perinuclear region of cytoplasm  transmembrane transport  
Pathways : KEGGABC transporters    Peroxisome   
NDEx Network
Atlas of Cancer Signalling NetworkABCD1
Wikipedia pathwaysABCD1
Orthology - Evolution
OrthoDB215
GeneTree (enSembl)ENSG00000101986
Phylogenetic Trees/Animal Genes : TreeFamABCD1
Homologs : HomoloGeneABCD1
Homology/Alignments : Family Browser (UCSC)ABCD1
Gene fusions - Rearrangements
Polymorphisms : SNP, variants
NCBI Variation ViewerABCD1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ABCD1
dbVarABCD1
ClinVarABCD1
1000_GenomesABCD1 
Exome Variant ServerABCD1
ExAC (Exome Aggregation Consortium)ABCD1 (select the gene name)
Genetic variants : HAPMAP215
Genomic Variants (DGV)ABCD1 [DGVbeta]
Mutations
ICGC Data PortalABCD1 
TCGA Data PortalABCD1 
Broad Tumor PortalABCD1
OASIS PortalABCD1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICABCD1 
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)X-chromosome gene database
LOVD (Leiden Open Variation Database)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
BioMutasearch ABCD1
DgiDB (Drug Gene Interaction Database)ABCD1
DoCM (Curated mutations)ABCD1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ABCD1 (select a term)
intoGenABCD1
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)X:152990323-153010216  ENSG00000101986
CONAN: Copy Number AnalysisABCD1 
Mutations and Diseases : HGMDABCD1
OMIM300100    300371   
MedgenABCD1
Genetic Testing Registry ABCD1
NextProtP33897 [Medical]
TSGene215
GENETestsABCD1
Huge Navigator ABCD1 [HugePedia]
snp3D : Map Gene to Disease215
BioCentury BCIQABCD1
ClinGenABCD1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD215
Chemical/Pharm GKB GenePA24396
Clinical trialABCD1
Miscellaneous
canSAR (ICR)ABCD1 (select the gene name)
Probes
Litterature
PubMed114 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineABCD1
EVEXABCD1
GoPubMedABCD1
iHOPABCD1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Aug 9 18:58:40 CEST 2016

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