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

Identity

Other names	ABC-C
	ABC3
	EST111653
	LBM180
	MGC166979
	MGC72201
	SMDP3
HGNC	ABCA3
Location	16p13.3
Location_base_pair	Starts at 2265880 and ends at 2330748 bp from pter ( according to hg18-March_2006).
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	ABCA3   33
Entrez_Gene	ABCA3  21  ATP-binding cassette, sub-family A (ABC1), member 3
	Cards
GeneCards	ABCA3
Ensembl	ABCA3 [Search_View]   ENSG00000167972 [Gene_View]
Genatlas	ABCA3
GeneLynx	ABCA3
eGenome	ABCA3
euGene	21
	Genomic and cartography
GoldenPath	ABCA3  -  16p13.3   chr16:2265880-2330748 -  16p13.3   [Description]    (hg18-March_2006)
Ensembl	ABCA3 - 16p13.3 [CytoView]
NCBI	Mapview
OMIM	Disease map [OMIM]
HomoloGene	ABCA3
	Gene and transcription
Genbank	AB070929 [ ENTREZ ]
Genbank	AB210044 [ ENTREZ ]
Genbank	AK310864 [ ENTREZ ]
Genbank	BC020724 [ ENTREZ ]
Genbank	BC035752 [ ENTREZ ]
RefSeq	NM_001089 [ SRS ]    NM_001089 [ ENTREZ ]
RefSeq	AC_000059 [ SRS ]    AC_000059 [ ENTREZ ]
RefSeq	AC_000148 [ SRS ]    AC_000148 [ ENTREZ ]
RefSeq	NC_000016 [ SRS ]    NC_000016 [ ENTREZ ]
RefSeq	NT_037887 [ SRS ]    NT_037887 [ ENTREZ ]
RefSeq	NW_001838339 [ SRS ]    NW_001838339 [ ENTREZ ]
RefSeq	NW_926018 [ SRS ]    NW_926018 [ ENTREZ ]
AceView	ABCA3 AceView - NCBI
Unigene	Hs.26630 [ SRS ]    Hs.26630 [ NCBI ]     HS26630 [ spliceNest ]
Fast-db	2206 (alternative variants)
	Protein : pattern, domain, 3D structure
SwissProt	Q4LE27 [ SRS]    Q4LE27 [ EXPASY ]     Q4LE27 [ INTERPRO ]     Q4LE27 [ UNIPROT ]
Prosite	PS00211 ABC_TRANSPORTER_1 [ SRS ]    PS00211 ABC_TRANSPORTER_1 [ Expasy ]
Prosite	PS50893 ABC_TRANSPORTER_2 [ SRS ]    PS50893 ABC_TRANSPORTER_2 [ Expasy ]
Interpro	IPR003593 AAA+_ATPase_core [ SRS ]    IPR003593 AAA+_ATPase_core [ EBI ]
Interpro	IPR003439 ABC_transporter-like [ SRS ]    IPR003439 ABC_transporter-like [ EBI ]
CluSTr	Q4LE27
Pfam	PF00005 ABC_tran [ SRS ]    PF00005 ABC_tran [ Sanger ]    pfam00005 [ NCBI-CDD ]
Smart	SM00382 AAA [EMBL]
Prodom	PD000006 ABC_transporter[INRA-Toulouse]
Prodom	Q4LE27 Q4LE27_HUMAN [ Domain structure ]   Q4LE27 Q4LE27_HUMAN  [ sequences sharing at least 1 domain ]
Blocks	Q4LE27
HPRD	03369
	Protein Interaction databases
DIP	Q4LE27
IntAct	Q4LE27
	Polymorphism : SNP, mutations, diseases
OMIM	601615;610921    [ map ]
GENECLINICS	601615;610921
SNP	ABCA3 [dbSNP-NCBI]
SNP	NM_001089 [SNP-NCI]
SNP	ABCA3 [GeneSNPs - Utah]  ABCA3] [HGBASE - SRS]
HAPMAP	ABCA3 [HAPMAP]
HGMD	ABCA3
	General knowledge
Family Browser	ABCA3 [UCSC Family Browser]
SOURCE	NM_001089
SMD	Hs.26630
SAGE	Hs.26630
GO	nucleotide binding [Amigo]  nucleotide binding
GO	transporter activity [Amigo]  transporter activity
GO	ATP binding [Amigo]  ATP binding
GO	ATP binding [Amigo]  ATP binding
GO	membrane fraction [Amigo]  membrane fraction
GO	plasma membrane [Amigo]  plasma membrane
GO	transport [Amigo]  transport
GO	integral to membrane [Amigo]  integral to membrane
GO	ATPase activity [Amigo]  ATPase activity
GO	response to drug [Amigo]  response to drug
GO	lamellar body [Amigo]  lamellar body
GO	ATPase activity, coupled to transmembrane movement of substances [Amigo]  ATPase activity, coupled to transmembrane movement of substances
PubGene	ABCA3
TreeFam	ABCA3
CTD	21 [Comparative ToxicoGenomics Database]
	Other databases
	Probes
Probe	ABCA3 Related clones (RZPD - Berlin)
	PubMed
PubMed	21 Pubmed reference(s) in Entrez

Genes in title	automatic search in PubMed
REVIEW articles	automatic search in PubMed
Last year publications	automatic search in PubMed

Search in all EBI   NCBI

Contributor(s)

Written	09-2002	Dessen P, Le Minor S
Updated	03-2008	Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology

indexed on : Sat Oct 18 14:28:46 2008