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ABCA3 (ATP-binding cassette, sub-family A (ABC1), member 3)

Identity

Other namesABC-C
ABC3
EST111653
LBM180
SMDP3
HGNC (Hugo) ABCA3
LocusID (NCBI) 21
Location 16p13.3
Location_base_pair Starts at 2325879 and ends at 2390747 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)ABCA3   33
Cards
Entrez_Gene (NCBI)ABCA3  21  ATP-binding cassette, sub-family A (ABC1), member 3
GeneCards (Weizmann)ABCA3
Ensembl (Hinxton)ENSG00000167972 [Gene_View]  chr16:2325879-2390747 [Contig_View]  ABCA3 [Vega]
ICGC DataPortalENSG00000167972
cBioPortalABCA3
AceView (NCBI)ABCA3
Genatlas (Paris)ABCA3
WikiGenes21
SOURCE (Princeton)NM_001089
Genomic and cartography
GoldenPath (UCSC)ABCA3  -  16p13.3   chr16:2325879-2390747 -  16p13.3   [Description]    (hg19-Feb_2009)
EnsemblABCA3 - 16p13.3 [CytoView]
Mapping of homologs : NCBIABCA3 [Mapview]
OMIM601615   610921   
Gene and transcription
Genbank (Entrez)AB070929 AB210044 AK310864 BC020724 BC035752
RefSeq transcript (Entrez)NM_001089
RefSeq genomic (Entrez)AC_000148 NC_000016 NC_018927 NG_011790 NT_010393 NW_001838339 NW_004929400
Consensus coding sequences : CCDS (NCBI)ABCA3
Cluster EST : UnigeneHs.26630 [ NCBI ]
CGAP (NCI)Hs.26630
Alternative Splicing : Fast-db (Paris)GSHG0011543
Alternative Splicing GalleryENSG00000167972
Gene ExpressionABCA3 [ NCBI-GEO ]     ABCA3 [ SEEK ]   ABCA3 [ MEM ]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ99758 (Uniprot)
NextProtQ99758  [Medical]
With graphics : InterProQ99758
Splice isoforms : SwissVarQ99758 (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]   ABCA3 [organisation]   P-loop_NTPase [organisation]  
Related proteins : CluSTrQ99758
Domain families : Pfam (Sanger)ABC_tran (PF00005)   
Domain families : Pfam (NCBI)pfam00005   
Domain families : Smart (EMBL)AAA (SM00382)  
DMDM Disease mutations21
Blocks (Seattle)Q99758
Human Protein AtlasENSG00000167972 [gene] [tissue] [antibody] [cell] [cancer]
Peptide AtlasQ99758
HPRD03369
IPIIPI00017800   IPI00619902   
Protein Interaction databases
DIP (DOE-UCLA)Q99758
IntAct (EBI)Q99758
FunCoupENSG00000167972
BioGRIDABCA3
InParanoidQ99758
Interologous Interaction database Q99758
IntegromeDBABCA3
STRING (EMBL)ABCA3
Ontologies - Pathways
Ontology : AmiGOtransporter activity  ATP binding  extracellular space  plasma membrane  plasma membrane  ATP catabolic process  transport  membrane  integral component of membrane  response to drug  ATPase activity, coupled to transmembrane movement of substances  response to glucocorticoid  transmembrane transport  alveolar lamellar body  alveolar lamellar body membrane  
Ontology : EGO-EBItransporter activity  ATP binding  extracellular space  plasma membrane  plasma membrane  ATP catabolic process  transport  membrane  integral component of membrane  response to drug  ATPase activity, coupled to transmembrane movement of substances  response to glucocorticoid  transmembrane transport  alveolar lamellar body  alveolar lamellar body membrane  
Pathways : KEGGABC transporters   
Protein Interaction DatabaseABCA3
Wikipedia pathwaysABCA3
Gene fusion - rearrangments
Polymorphisms : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)ABCA3
snp3D : Map Gene to Disease21
SNP (GeneSNP Utah)ABCA3
SNP : HGBaseABCA3
Genetic variants : HAPMAPABCA3
Exome VariantABCA3
1000_GenomesABCA3 
ICGC programENSG00000167972 
Somatic Mutations in Cancer : COSMICABCA3 
CONAN: Copy Number AnalysisABCA3 
Mutations and Diseases : HGMDABCA3
Genomic VariantsABCA3  ABCA3 [DGVbeta]
dbVarABCA3
ClinVarABCA3
Pred. of missensesPolyPhen-2  SIFT(SG)  SIFT(JCVI)  Align-GVGD  MutAssessor  Mutanalyser  
Pred. splicesGeneSplicer  Human Splicing Finder  MaxEntScan  
Diseases
OMIM601615    610921   
MedgenABCA3
GENETestsABCA3
Disease Genetic AssociationABCA3
Huge Navigator ABCA3 [HugePedia]  ABCA3 [HugeCancerGEM]
General knowledge
Homologs : HomoloGeneABCA3
Homology/Alignments : Family Browser (UCSC)ABCA3
Phylogenetic Trees/Animal Genes : TreeFamABCA3
Chemical/Protein Interactions : CTD21
Chemical/Pharm GKB GenePA24378
Clinical trialABCA3
Cancer Resource (Charite)ENSG00000167972
Other databases
Probes
Litterature
PubMed53 Pubmed reference(s) in Entrez
CoreMineABCA3
iHOPABCA3
OncoSearchABCA3
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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