FOXO3A (forkhead box O3A)

Identity

Other names	AF6q21 (ALL1 fused gene from chromosome 6q21)
	FKHRL1 (forkhead homolog rhabdomyosarcoma like 1)
Hugo	FOXO3
Location	6q21

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
Hugo	FOXO3A
GDB	FOXO3
Entrez_Gene	FOXO3  2309  forkhead box O3
	Cards
Atlas	AF6q21ID125
GeneCards	FOXO3
Ensembl	FOXO3 [Search_View]   ENSG00000118689 [Gene_View]
Genatlas	FOXO3
GeneLynx	FOXO3
eGenome	FOXO3
euGene	2309
	Genomic and cartography
GoldenPath	FOXO3  -  6q21   chr6:108987719-109112664 +  6q21   [Description]    (hg18-Mar_2006)
Ensembl	FOXO3 - 6q21 [CytoView]
NCBI	Mapview
OMIM	Disease map [OMIM]
HomoloGene	FOXO3
	Gene and transcription
Genbank	AB072905 [ ENTREZ ]
Genbank	AF032886 [ ENTREZ ]
Genbank	AF041336 [ ENTREZ ]
Genbank	AI554317 [ ENTREZ ]
Genbank	AJ001589 [ ENTREZ ]
RefSeq	NM_001455 [ SRS ]    NM_001455 [ ENTREZ ]
RefSeq	NM_201559 [ SRS ]    NM_201559 [ ENTREZ ]
RefSeq	AC_000049 [ SRS ]    AC_000049 [ ENTREZ ]
RefSeq	NC_000006 [ SRS ]    NC_000006 [ ENTREZ ]
RefSeq	NT_025741 [ SRS ]    NT_025741 [ ENTREZ ]
RefSeq	NW_923184 [ SRS ]    NW_923184 [ ENTREZ ]
AceView	FOXO3 AceView - NCBI
Unigene	Hs.220950 [ SRS ]    Hs.220950 [ NCBI ]     HS220950 [ spliceNest ]
Fast-db	15973 (alternative variants)
	Protein : pattern, domain, 3D structure
SwissProt	O43524 [ SRS]    O43524 [ EXPASY ]     O43524 [ INTERPRO ]
Prosite	PS00657 FORK_HEAD_1 [ SRS ]    PS00657 FORK_HEAD_1 [ Expasy ]
Prosite	PS00658 FORK_HEAD_2 [ SRS ]    PS00658 FORK_HEAD_2 [ Expasy ]
Prosite	PS50039 FORK_HEAD_3 [ SRS ]    PS50039 FORK_HEAD_3 [ Expasy ]
Interpro	IPR001766 TF_Fork_head [ SRS ]    IPR001766 TF_Fork_head [ EBI ]
Interpro	IPR011991 Wing_hlx_DNA_bd [ SRS ]    IPR011991 Wing_hlx_DNA_bd [ EBI ]
CluSTr	O43524
Pfam	PF00250 Fork_head [ SRS ]    PF00250 Fork_head [ Sanger ]    pfam00250 [ NCBI-CDD ]
Smart	SM00339 FH [EMBL]
Prodom	PD000425 TF_Fork_head[INRA-Toulouse]
Prodom	O43524 FOXO3_HUMAN [ Domain structure ]   O43524 FOXO3_HUMAN  [ sequences sharing at least 1 domain ]
Blocks	O43524
HPRD	04061
	Protein Interaction databases
DIP	O43524
IntAct	O43524
	Polymorphism : SNP, mutations, diseases
OMIM	602681    [ map ]
GENECLINICS	602681
SNP	FOXO3 [dbSNP-NCBI]
SNP	NM_001455 [SNP-NCI]
SNP	NM_201559 [SNP-NCI]
SNP	FOXO3 [GeneSNPs - Utah]  FOXO3] [HGBASE - SRS]
HAPMAP	FOXO3 [HAPMAP]
COSMIC	FOXO3 [Somatic mutation (COSMIC-CGP-Sanger)]
HGMD	FOXO3A
	General knowledge
Family Browser	FOXO3 [UCSC Family Browser]
SOURCE	NM_001455
SOURCE	NM_201559
SMD	Hs.220950
SAGE	Hs.220950
GO	transcription factor activity [Amigo]  transcription factor activity
GO	transcription factor activity [Amigo]  transcription factor activity
GO	nucleus [Amigo]  nucleus
GO	nucleus [Amigo]  nucleus
GO	cytoplasm [Amigo]  cytoplasm
GO	transcription [Amigo]  transcription
GO	regulation of transcription, DNA-dependent [Amigo]  regulation of transcription, DNA-dependent
GO	apoptosis [Amigo]  apoptosis
GO	transcription activator activity [Amigo]  transcription activator activity
GO	protein kinase binding [Amigo]  protein kinase binding
GO	sequence-specific DNA binding [Amigo]  sequence-specific DNA binding
GO	sequence-specific DNA binding [Amigo]  sequence-specific DNA binding
GO	positive regulation of erythrocyte differentiation [Amigo]  positive regulation of erythrocyte differentiation
GO	positive regulation of transcription from RNA polymerase II promoter [Amigo]  positive regulation of transcription from RNA polymerase II promoter
BIOCARTA	Role of nicotinic acetylcholine receptors in the regulation of apoptosis    [Genes]
BIOCARTA	AKT Signaling Pathway    [Genes]
BIOCARTA	The IGF-1 Receptor and Longevity    [Genes]
BIOCARTA	PTEN dependent cell cycle arrest and apoptosis    [Genes]
PubGene	FOXO3
TreeFam	FOXO3A
CTD	2309 [Comparative ToxicoGenomics Database]
	Other databases
	Probes
Probe	Cancer Cytogenetics (Bari)
Probe	FOXO3 Related clones (RZPD - Berlin)
	PubMed
PubMed	67 Pubmed reference(s) in LocusLink

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 . FOXO3A (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 : Wed Jul 2 08:21:38 2008