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ABCD3 (ATP binding cassette subfamily D member 3)

Identity

Alias_namesPXMP1
ATP-binding cassette, sub-family D (ALD), member 3
Alias_symbol (synonym)PMP70
ZWS2
Other aliasABC43
CBAS5
HGNC (Hugo) ABCD3
LocusID (NCBI) 5825
Atlas_Id 60042
Location 1p21.3  [Link to chromosome band 1p21]
Location_base_pair Starts at 94418377 and ends at 94478704 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
ABCD3 (1p21.3) / AK5 (1p31.1)ABCD3 (1p21.3) / ARHGAP29 (1p22.1)ABCD3 (1p21.3) / EXOC4 (7q33)
ABCD3 (1p21.3) / RACK1 (5q35.3)CAMK2N1 (1p36.12) / ABCD3 (1p21.3)PRPF38A (1p32.3) / ABCD3 (1p21.3)
SLC44A3 (1p21.3) / ABCD3 (1p21.3)ABCD3 ARHGAP29ABCD3 AK5

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

 


Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 2 ]
  t(1;1)(p21;p31) ABCD3/AK5
t(1;1)(p21;p32) PRPF38A/ABCD3


External links

Nomenclature
HGNC (Hugo)ABCD3   67
Cards
Entrez_Gene (NCBI)ABCD3  5825  ATP binding cassette subfamily D member 3
AliasesABC43; CBAS5; PMP70; PXMP1; 
ZWS2
GeneCards (Weizmann)ABCD3
Ensembl hg19 (Hinxton)ENSG00000117528 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000117528 [Gene_View]  ENSG00000117528 [Sequence]  chr1:94418377-94478704 [Contig_View]  ABCD3 [Vega]
ICGC DataPortalENSG00000117528
TCGA cBioPortalABCD3
AceView (NCBI)ABCD3
Genatlas (Paris)ABCD3
WikiGenes5825
SOURCE (Princeton)ABCD3
Genetics Home Reference (NIH)ABCD3
Genomic and cartography
GoldenPath hg38 (UCSC)ABCD3  -     chr1:94418377-94478704 +  1p21.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)ABCD3  -     1p21.3   [Description]    (hg19-Feb_2009)
EnsemblABCD3 - 1p21.3 [CytoView hg19]  ABCD3 - 1p21.3 [CytoView hg38]
Mapping of homologs : NCBIABCD3 [Mapview hg19]  ABCD3 [Mapview hg38]
OMIM170995   616278   
Gene and transcription
Genbank (Entrez)AK126440 AK296791 AK302714 AK308159 BC009712
RefSeq transcript (Entrez)NM_001122674 NM_002858
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)ABCD3
Cluster EST : UnigeneHs.700576 [ NCBI ]
CGAP (NCI)Hs.700576
Alternative Splicing GalleryENSG00000117528
Gene ExpressionABCD3 [ NCBI-GEO ]   ABCD3 [ EBI - ARRAY_EXPRESS ]   ABCD3 [ SEEK ]   ABCD3 [ MEM ]
Gene Expression Viewer (FireBrowse)ABCD3 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)5825
GTEX Portal (Tissue expression)ABCD3
Human Protein AtlasENSG00000117528-ABCD3 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP28288   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP28288  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP28288
Splice isoforms : SwissVarP28288
PhosPhoSitePlusP28288
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    ABCD3    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)  
Conserved Domain (NCBI)ABCD3
DMDM Disease mutations5825
Blocks (Seattle)ABCD3
SuperfamilyP28288
Human Protein Atlas [tissue]ENSG00000117528-ABCD3 [tissue]
Peptide AtlasP28288
HPRD01368
IPIIPI00002372   IPI00185503   IPI00884932   IPI00908804   IPI01015425   
Protein Interaction databases
DIP (DOE-UCLA)P28288
IntAct (EBI)P28288
FunCoupENSG00000117528
BioGRIDABCD3
STRING (EMBL)ABCD3
ZODIACABCD3
Ontologies - Pathways
QuickGOP28288
Ontology : AmiGO###############################################################################################################################################################################################################################################################  
Ontology : EGO-EBI###############################################################################################################################################################################################################################################################  
Pathways : BIOCARTANuclear Receptors in Lipid Metabolism and Toxicity [Genes]   
NDEx NetworkABCD3
Atlas of Cancer Signalling NetworkABCD3
Wikipedia pathwaysABCD3
Orthology - Evolution
OrthoDB5825
GeneTree (enSembl)ENSG00000117528
Phylogenetic Trees/Animal Genes : TreeFamABCD3
HOVERGENP28288
HOGENOMP28288
Homologs : HomoloGeneABCD3
Homology/Alignments : Family Browser (UCSC)ABCD3
Gene fusions - Rearrangements
Fusion PortalABCD3 ARHGAP29
Fusion PortalABCD3 AK5
Fusion : QuiverABCD3
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerABCD3 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ABCD3
dbVarABCD3
ClinVarABCD3
1000_GenomesABCD3 
Exome Variant ServerABCD3
ExAC (Exome Aggregation Consortium)ENSG00000117528
GNOMAD BrowserENSG00000117528
Varsome BrowserABCD3
Genetic variants : HAPMAP5825
Genomic Variants (DGV)ABCD3 [DGVbeta]
DECIPHERABCD3 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisABCD3 
Mutations
ICGC Data PortalABCD3 
TCGA Data PortalABCD3 
Broad Tumor PortalABCD3
OASIS PortalABCD3 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICABCD3  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDABCD3
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)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
BioMutasearch ABCD3
DgiDB (Drug Gene Interaction Database)ABCD3
DoCM (Curated mutations)ABCD3 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ABCD3 (select a term)
intoGenABCD3
Cancer3DABCD3(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM170995    616278   
Orphanet
DisGeNETABCD3
MedgenABCD3
Genetic Testing Registry ABCD3
NextProtP28288 [Medical]
TSGene5825
GENETestsABCD3
Target ValidationABCD3
Huge Navigator ABCD3 [HugePedia]
snp3D : Map Gene to Disease5825
BioCentury BCIQABCD3
ClinGenABCD3
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD5825
Chemical/Pharm GKB GenePA24402
Clinical trialABCD3
Miscellaneous
canSAR (ICR)ABCD3 (select the gene name)
Probes
Litterature
PubMed1 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineABCD3
EVEXABCD3
GoPubMedABCD3
iHOPABCD3
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Jul 30 13:34:20 CEST 2018

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