HOXA9

Identity

Other names	HOX1G (homeobox-1G);
HGNC	HOXA9
Location	7p15

Protein

Description	129 amino acids; DNA binding domain (homeobox) in C-term
Localisation	nuclear
Function	sequence specific transcription factor; role during embryonic development (patterning); HOX genes are also expressed in adult tissues, including blood cells; probable role in blood cell differenciation
Homology	with class 1 homeodomain proteins

Implicated in

Entity	t(7;11)(p15;p15)/ANLL --> NUP98-HOXA9
Disease	M2-M4 ANLL mostly; occasionally: CML-like cases
Prognosis	mean survival: 15 mths
Cytogenetics	sole anomaly most often
Hybrid/Mutated Gene	5' NUP98 - 3' HOXA9
Abnormal Protein	fuses the GLFG repeat domains of NUP98 to the HOXA9 homeobox

Breakpoints

External links

	Nomenclature
HGNC	HOXA9   5109
Entrez_Gene	HOXA9  3205  homeobox A9
	Cards
Atlas	HOXA9
GeneCards	HOXA9
Ensembl	HOXA9 [Search_View]   ENSG00000078399 [Gene_View]
Genatlas	HOXA9
GeneLynx	HOXA9
eGenome	HOXA9
euGene	3205
	Genomic and cartography
GoldenPath	HOXA9  -  7p15   chr7:27168582-27171674 -  7p15.2   [Description]    (hg18-Mar_2006)
Ensembl	HOXA9 - 7p15.2 [CytoView]
NCBI	Mapview
OMIM	Disease map [OMIM]
HomoloGene	HOXA9
	Gene and transcription
Genbank	AM393527 [ ENTREZ ]
Genbank	AW612618 [ ENTREZ ]
Genbank	BC006537 [ ENTREZ ]
Genbank	BC010023 [ ENTREZ ]
Genbank	BG258601 [ ENTREZ ]
RefSeq	NM_152739 [ SRS ]    NM_152739 [ ENTREZ ]
RefSeq	AC_000050 [ SRS ]    AC_000050 [ ENTREZ ]
RefSeq	AC_000068 [ SRS ]    AC_000068 [ ENTREZ ]
RefSeq	AC_000139 [ SRS ]    AC_000139 [ ENTREZ ]
RefSeq	NC_000007 [ SRS ]    NC_000007 [ ENTREZ ]
RefSeq	NT_007819 [ SRS ]    NT_007819 [ ENTREZ ]
RefSeq	NT_079592 [ SRS ]    NT_079592 [ ENTREZ ]
RefSeq	NW_001839003 [ SRS ]    NW_001839003 [ ENTREZ ]
RefSeq	NW_923240 [ SRS ]    NW_923240 [ ENTREZ ]
AceView	HOXA9 AceView - NCBI
Unigene	Hs.659350 [ SRS ]    Hs.659350 [ NCBI ]     HS659350 [ spliceNest ]
Fast-db	3197 (alternative variants)
	Protein : pattern, domain, 3D structure
SwissProt	O75805 [ SRS]    O75805 [ EXPASY ]     O75805 [ INTERPRO ]     O75805 [ UNIPROT ]
Prosite	PS00027 HOMEOBOX_1 [ SRS ]    PS00027 HOMEOBOX_1 [ Expasy ]
Prosite	PS50071 HOMEOBOX_2 [ SRS ]    PS50071 HOMEOBOX_2 [ Expasy ]
Interpro	IPR001356 Homeobox [ SRS ]    IPR001356 Homeobox [ EBI ]
Interpro	IPR012287 Homeodomain-rel [ SRS ]    IPR012287 Homeodomain-rel [ EBI ]
Interpro	IPR000047 HTH_lambrepressr [ SRS ]    IPR000047 HTH_lambrepressr [ EBI ]
CluSTr	O75805
Pfam	PF00046 Homeobox [ SRS ]    PF00046 Homeobox [ Sanger ]    pfam00046 [ NCBI-CDD ]
Smart	SM00389 HOX [EMBL]
Prodom	PD000010 Homeobox[INRA-Toulouse]
Prodom	O75805 O75805_HUMAN [ Domain structure ]   O75805 O75805_HUMAN  [ sequences sharing at least 1 domain ]
Blocks	O75805
HPRD	00844
	Protein Interaction databases
DIP	O75805
IntAct	O75805
	Polymorphism : SNP, mutations, diseases
OMIM	142956    [ map ]
GENECLINICS	142956
SNP	HOXA9 [dbSNP-NCBI]
SNP	NM_152739 [SNP-NCI]
SNP	HOXA9 [GeneSNPs - Utah]  HOXA9] [HGBASE - SRS]
HAPMAP	HOXA9 [HAPMAP]
COSMIC	HOXA9 [Somatic mutation (COSMIC-CGP-Sanger)]
TICdb	HOXA9 [Translocation breakpoints In Cancer]
HGMD	HOXA9
	General knowledge
Family Browser	HOXA9 [UCSC Family Browser]
SOURCE	NM_152739
SMD	Hs.659350
SAGE	Hs.659350
GO	molecular_function [Amigo]  molecular_function
GO	transcription factor activity [Amigo]  transcription factor activity
GO	protein binding [Amigo]  protein binding
GO	nucleus [Amigo]  nucleus
GO	nucleus [Amigo]  nucleus
GO	regulation of transcription, DNA-dependent [Amigo]  regulation of transcription, DNA-dependent
GO	multicellular organismal development [Amigo]  multicellular organismal development
GO	biological_process [Amigo]  biological_process
GO	transcription activator activity [Amigo]  transcription activator activity
GO	sequence-specific DNA binding [Amigo]  sequence-specific DNA binding
PubGene	HOXA9
TreeFam	HOXA9
CTD	3205 [Comparative ToxicoGenomics Database]
	Other databases
	Probes
Probe	HOXA9 Related clones (RZPD - Berlin)
	PubMed
PubMed	56 Pubmed reference(s) in LocusLink

Bibliography

Fusion of the nucleoporin gene NUP98 to HOXA9 by the chromosome translocation t(7;11)(p15;p15) in human myeloid leukaemia.

Nakamura T, Largaespada DA, Lee MP, Johnson LA, Ohyashiki K, Toyama K, Chen SJ, Willman CL, Chen IM, Feinberg AP, Jenkins NA, Copeland NG, Shaughnessy JD Jr

Nature genetics. 1996 ; 12 (2) : 154-158.

PMID 8563753

The t(7;11)(p15;p15) translocation in acute myeloid leukaemia fuses the genes for nucleoporin NUP98 and class I homeoprotein HOXA9.

Borrow J, Shearman AM, Stanton VP Jr, Becher R, Collins T, Williams AJ, Dubˆ© I, Katz F, Kwong YL, Morris C, Ohyashiki K, Toyama K, Rowley J, Housman DE

Nature genetics. 1996 ; 12 (2) : 159-167.

PMID 8563754

Mice bearing a targeted interruption of the homeobox gene HOXA9 have defects in myeloid, erythroid, and lymphoid hematopoiesis.

Lawrence HJ, Helgason CD, Sauvageau G, Fong S, Izon DJ, Humphries RK, Largman C

Blood. 1997 ; 89 (6) : 1922-1930.

PMID 9058712

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

Search in all EBI   NCBI

Contributor(s)

Written	01-1998	Jean-loup Huret

Citation

This paper should be referenced as such :

Huret JL . HOXA9. Atlas Genet Cytogenet Oncol Haematol. January 1998 . URL : http://AtlasGeneticsOncology.org/Genes/HOXA9.html

© Atlas of Genetics and Cytogenetics in Oncology and Haematology

indexed on : Mon Aug 11 21:14:23 2008