FOXO3 (forkhead box O3A)

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FOXO3 (forkhead box O3A)

Identity

Other names	FOXO3A (forkhead box O3A)
	AF6q21 (ALL1 fused gene from chromosome 6q21)
	FKHRL1 (forkhead homolog rhabdomyosarcoma like 1)
HGNC (Hugo)	FOXO3
Location	6q21
Location_base_pair	Starts at 108988762 and ends at 109112664 bp from pter ( according to hg18-Mar_2006) [Mapping]

DNA/RNA

Transcription

6 kb transcript with a 3.2 kb mRNA complete cds; coding sequence: CDS 925..2946

Protein

Description	673 amino acids; NH2 -- similarity region with AFX and FKHR -- Forkhead motif -- COOH
Expression	wide
Localisation	nuclear (potential)
Function	may be a transcription regulator
Homology	AFX, involved in the t(X;11)(q13;q23), and FHKR, involved in rabdomyosarcoma; with also a similar breakpoint location within the forkhead motif

Implicated in

Entity	t(6;11)(q21;q23)/ANLL --> MLL - AF6q21
Disease	treatment related ANLL, M5 type
Hybrid/Mutated Gene	5' MLL - 3' AF6q2
Abnormal Protein	240 kDa protein with about 1400 amino acids from N-term MLL fused to 446 amino acids from AF6q21 C-term; the reciprocal may be expressed

External links

	Nomenclature
HGNC (Hugo)	FOXO3 3821
Entrez_Gene (NCBI)	FOXO3 2309 forkhead box O3
	Cards
Atlas	AF6q21ID125
GeneCards (Weizmann)	FOXO3
Ensembl (Hinxton)	ENSG00000118689 [Gene_View] FOXO3 [Vega]
AceView (NCBI)	FOXO3
Genatlas (Paris)	FOXO3
euGene (Indiana)	2309
SOURCE (Stanford)	NM_001455 NM_201559
Gene Expression (Array Express)	ENSG00000118689
	Genomic and cartography
GoldenPath (UCSC)	FOXO3 - 6q21 chr6:108988762-109112664 + 6q21 [Description] (hg18-Mar_2006)
Ensembl	FOXO3 - 6q21 [CytoView]
Mapping of homologs : NCBI	FOXO3 [Mapview]
OMIM	602681
	Gene and transcription
Gene : Genbank (Entrez)	AB072905 AF032886 AI554317 AJ001589 AK024103
Reference sequence (RefSeq transcript) :SRS	NM_001455 NM_201559
Reference transcript : Entrez	NM_001455 NM_201559
RefSeq genomic : SRS	AC_000049 AC_000138 NC_000006 NT_025741 NW_001838990 NW_923184
RefSeq genomic : Entrez	AC_000049 AC_000138 NC_000006 NT_025741 NW_001838990 NW_923184
Consensus coding sequences : CCDS NCBI	FOXO3
Cluster EST : Unigene	Hs.220950 [ SRS ] Hs.220950 [ NCBI ]
Alternative Splicing : Fast-db (Paris)	15973
	Protein : pattern, domain, 3D structure
Protein : UniProt/SwissProt	O43524 (SRS) O43524 (Expasy) O43524 (Uniprot)
With graphics : InterPro	O43524
Splice isoforms : VarSplice FASTA	O43524(VarSplice FASTA)
Domaine pattern : Prosite (SRS)	FORK_HEAD_1 (PS00657) FORK_HEAD_2 (PS00658) FORK_HEAD_3 (PS50039)
Domain pattern : Prosite (Expaxy)	FORK_HEAD_1 (PS00657) FORK_HEAD_2 (PS00658) FORK_HEAD_3 (PS50039)
Domains : Interpro (SRS)	TF_fork_head TF_fork_head_CS Wing_hlx_DNA_bd
Domains : Interpro (EBI)	TF_fork_head TF_fork_head_CS Wing_hlx_DNA_bd
Related proteins : CluSTr	O43524
Domain families : Pfam SRS	Fork_head (PF00250)
Domain families : Pfam Sanger	Fork_head (PF00250)
Domain families : Pfam NCBI	pfam00250
Domain families : Smart EMBL	FH (SM00339)
Blocks (Seattle)	O43524
Crystal structure of protein : PDB SRS	2K86 2UZK
Crystal structure of protein : PDBSum	2K86 2UZK
Crystal structure of protein : IMB	2K86 2UZK
Crystal structure of protein : PDB RSDB	2K86 2UZK
HPRD	04061
	Protein Interaction databases
DIP (DOE-UCLA)	O43524
IntAct (EBI)	O43524
	Polymorphism : SNP, mutations, diseases
Single Nucleotide Polymorphism (SNP) : dbSNP NCBI	FOXO3
SNP : GeneSNP Utah	FOXO3
SNP : HGBase	FOXO3
Genetic variants : HAPMAP	FOXO3
Somatic Mutations in Cancer : COSMIC	FOXO3
Translocation Breakpoints in Cancer : TICdb	FOXO3
Mutations and Diseases : HGMD	FOXO3
Hereditary diseases : OMIM	602681
Hereditary diseases : GENETests	602681
Diseases : Genetic Association	FOXO3
	General knowledge
Homologs : HomoloGene	FOXO3
Homology/Alignments : Family Browser UCSC	FOXO3
Phylogenetic Trees/Animal Genes : TreeFam	FOXO3
Chemical/Protein Interactions : CTD	2309
Keywords Ontology : AmiGO	ovulation from ovarian follicle initiation of primordial ovarian follicle growth antral ovarian follicle growth oocyte maturation transcription factor activity protein binding membrane fraction nucleus cytoplasm cytosol regulation of transcription, DNA-dependent apoptosis induction of apoptosis response to DNA damage stimulus transcription activator activity protein kinase binding glucose homeostasis sequence-specific DNA binding positive regulation of erythrocyte differentiation positive regulation of transcription from RNA polymerase II promoter
Keywords Ontology : EGO-EBI	ovulation from ovarian follicle initiation of primordial ovarian follicle growth antral ovarian follicle growth oocyte maturation transcription factor activity protein binding membrane fraction nucleus cytoplasm cytosol regulation of transcription, DNA-dependent apoptosis induction of apoptosis response to DNA damage stimulus transcription activator activity protein kinase binding glucose homeostasis sequence-specific DNA binding positive regulation of erythrocyte differentiation positive regulation of transcription from RNA polymerase II promoter
Pathways : BIOCARTA	Role of nicotinic acetylcholine receptors in the regulation of apoptosis [Genes] AKT Signaling Pathway [Genes] The IGF-1 Receptor and Longevity [Genes] PTEN dependent cell cycle arrest and apoptosis [Genes]
Pathways : KEGG
	Other databases
	Probes
Probe	Cancer Cytogenetics (Bari)
Probes : Imagenes	FOXO3 Related clones (RZPD - Berlin)
	Literature
PubMed	135 Pubmed reference(s) in Entrez
PubGene	FOXO3

Bibliography

AF6q21, a novel partner of the MLL gene in t(6;11)(q21;q23), defines a forkhead transcriptional factor subfamily.

Hillion J, Le Coniat M, Jonveaux P, Berger R, Bernard OA

Blood. 1997 ; 90 (9) : 3714-3719.

PMID 9345057

Cloning and characterization of three human forkhead genes that comprise an FKHR-like gene subfamily.

Anderson MJ, Viars CS, Czekay S, Cavenee WK, Arden KC

Genomics. 1998 ; 47 (2) : 187-199.

PMID 9479491

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

Search in all EBI NCBI

Contributor(s)

Written	04-1998	Olivier Bernard

Citation
This paper should be referenced as such :
Bernard O . FOXO3 (forkhead box O3A). Atlas Genet Cytogenet Oncol Haematol. April 1998 .
URL : http://AtlasGeneticsOncology.org/Genes/AF6q21ID125.html

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Sat Feb 6 13:38:41 CET 2010

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