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ABCD1 (ATP-binding cassette, sub-family D (ALD), member 1)

Identity

Other namesABC42
ALD
ALDP
AMN
HGNC (Hugo) ABCD1
LocusID (NCBI) 215
Location Xq28
Location_base_pair Starts at 152990323 and ends at 153010216 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

External links

Nomenclature
HGNC (Hugo)ABCD1   61
Cards
Entrez_Gene (NCBI)ABCD1  215  ATP-binding cassette, sub-family D (ALD), member 1
GeneCards (Weizmann)ABCD1
Ensembl (Hinxton)ENSG00000101986 [Gene_View]  chrX:152990323-153010216 [Contig_View]  ABCD1 [Vega]
ICGC DataPortalENSG00000101986
cBioPortalABCD1
AceView (NCBI)ABCD1
Genatlas (Paris)ABCD1
WikiGenes215
SOURCE (Princeton)NM_000033
Genomic and cartography
GoldenPath (UCSC)ABCD1  -  Xq28   chrX:152990323-153010216 +  Xq28   [Description]    (hg19-Feb_2009)
EnsemblABCD1 - Xq28 [CytoView]
Mapping of homologs : NCBIABCD1 [Mapview]
OMIM300100   300371   
Gene and transcription
Genbank (Entrez)AY421736 AY421737 AY421738 BC015541 BC025358
RefSeq transcript (Entrez)NM_000033
RefSeq genomic (Entrez)AC_000155 NC_000023 NC_018934 NG_009022 NT_011681 NW_001842419 NW_004929448
Consensus coding sequences : CCDS (NCBI)ABCD1
Cluster EST : UnigeneHs.159546 [ NCBI ]
CGAP (NCI)Hs.159546
Alternative Splicing : Fast-db (Paris)GSHG0031907
Alternative Splicing GalleryENSG00000101986
Gene ExpressionABCD1 [ NCBI-GEO ]     ABCD1 [ SEEK ]   ABCD1 [ MEM ]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP33897 (Uniprot)
NextProtP33897  [Medical]
With graphics : InterProP33897
Splice isoforms : SwissVarP33897 (Swissvar)
Domaine pattern : Prosite (Expaxy)ABC_TM1F (PS50929)    ABC_TRANSPORTER_1 (PS00211)    ABC_TRANSPORTER_2 (PS50893)   
Domains : Interpro (EBI)AAA+_ATPase [organisation]   ABC1_TM_dom [organisation]   ABC_Peroxi_TM [organisation]   ABC_transporter-like [organisation]   ABC_transporter_CS [organisation]   FA_transporter [organisation]   P-loop_NTPase [organisation]  
Related proteins : CluSTrP33897
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)P33897
Human Protein AtlasENSG00000101986 [gene] [tissue] [antibody] [cell] [cancer]
Peptide AtlasP33897
HPRD02300
IPIIPI00291373   IPI00641876   IPI00641535   
Protein Interaction databases
DIP (DOE-UCLA)P33897
IntAct (EBI)P33897
FunCoupENSG00000101986
BioGRIDABCD1
InParanoidP33897
Interologous Interaction database P33897
IntegromeDBABCD1
STRING (EMBL)ABCD1
Ontologies - Pathways
Ontology : AmiGOtransporter 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  ATP catabolic process  ATP catabolic process  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  unsaturated fatty acid metabolic process  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  cellular lipid metabolic process  small molecule metabolic process  perinuclear region of cytoplasm  transmembrane transport  
Ontology : EGO-EBItransporter 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  ATP catabolic process  ATP catabolic process  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  unsaturated fatty acid metabolic process  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  cellular lipid metabolic process  small molecule metabolic process  perinuclear region of cytoplasm  transmembrane transport  
Pathways : KEGGABC transporters    Peroxisome   
Protein Interaction DatabaseABCD1
Wikipedia pathwaysABCD1
Gene fusion - rearrangments
Polymorphisms : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)ABCD1
snp3D : Map Gene to Disease215
SNP (GeneSNP Utah)ABCD1
SNP : HGBaseABCD1
Genetic variants : HAPMAPABCD1
Exome VariantABCD1
1000_GenomesABCD1 
ICGC programENSG00000101986 
Somatic Mutations in Cancer : COSMICABCD1 
CONAN: Copy Number AnalysisABCD1 
Mutations and Diseases : HGMDABCD1
Mutations and Diseases : intOGenABCD1
Genomic VariantsABCD1  ABCD1 [DGVbeta]
dbVarABCD1
ClinVarABCD1
Pred. of missensesPolyPhen-2  SIFT(SG)  SIFT(JCVI)  Align-GVGD  MutAssessor  Mutanalyser  
Pred. splicesGeneSplicer  Human Splicing Finder  MaxEntScan  
Diseases
OMIM300100    300371   
MedgenABCD1
GENETestsABCD1
Disease Genetic AssociationABCD1
Huge Navigator ABCD1 [HugePedia]  ABCD1 [HugeCancerGEM]
General knowledge
Homologs : HomoloGeneABCD1
Homology/Alignments : Family Browser (UCSC)ABCD1
Phylogenetic Trees/Animal Genes : TreeFamABCD1
Chemical/Protein Interactions : CTD215
Chemical/Pharm GKB GenePA24396
Clinical trialABCD1
Cancer Resource (Charite)ENSG00000101986
Other databases
Probes
Litterature
PubMed104 Pubmed reference(s) in Entrez
CoreMineABCD1
iHOPABCD1
OncoSearchABCD1
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 : Tue Aug 26 16:36:56 CEST 2014

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