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HOXA9 (homeobox A9)

Identity

Other namesHOX1G (homeobox-1G);
HGNC (Hugo) HOXA9
LocusID (NCBI) 3205
Location 7p15
Location_base_pair Starts at 27202057 and ends at 27205149 bp from pter ( according to hg19-Feb_2009)  [Mapping]

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 (Hugo)HOXA9   5109
Entrez_Gene (NCBI)HOXA9  3205  homeobox A9
Cards
AtlasHOXA9
GeneCards (Weizmann)HOXA9
Ensembl (Hinxton)ENSG00000078399 [Gene_View]  chr7:27202057-27205149 [Contig_View]  HOXA9 [Vega]
AceView (NCBI)HOXA9
Genatlas (Paris)HOXA9
euGene (Indiana)3205
SOURCE (Stanford)NM_152739
Genomic and cartography
GoldenPath (UCSC)HOXA9  -  7p15   chr7:27202057-27205149 -  7p15.2   [Description]    (hg19-Feb_2009)
EnsemblHOXA9 - 7p15.2 [CytoView]
Mapping of homologs : NCBIHOXA9 [Mapview]
OMIM142956   
Gene and transcription
Genbank (Entrez)AM393527 AW612618 BC006537 BC010023 BG258601
RefSeq transcript (SRS)NM_152739
RefSeq transcript (Entrez)NM_152739
RefSeq genomic (SRS)AC_000068 AC_000139 NC_000007 NG_029923 NT_007819 NT_079592 NW_001839003
RefSeq genomic (Entrez)AC_000068 AC_000139 NC_000007 NG_029923 NT_007819 NT_079592 NW_001839003
Consensus coding sequences : CCDS (NCBI)HOXA9
Cluster EST : UnigeneHs.659350 [ SRS ] Hs.659350 [ NCBI ]
Alternative Splicing : Fast-db (Paris)3197
Alternative Splicing GalleryENSG00000078399
Gene ExpressionHOXA9 [ NCBI-GEO ]   HOXA9 [ EBI - ARRAY_EXPRESS ]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP31269 (SRS) P31269 (Uniprot)
With graphics : InterProP31269
Splice isoforms : SwissVarP31269(Swissvar)
Domaine pattern : Prosite (SRS)HOMEOBOX_1 (PS00027)    HOMEOBOX_2 (PS50071)   
Domaine pattern : Prosite (Expaxy)HOMEOBOX_1 (PS00027)    HOMEOBOX_2 (PS50071)   
Domains : Interpro (SRS)Homeobox_CS    Homeobox_Hox9    Homeobox_metazoa    Homeodomain    Homeodomain-like    Hox9_activation_N   
Domains : Interpro (EBI)Homeobox_CS    Homeobox_Hox9    Homeobox_metazoa    Homeodomain    Homeodomain-like    Hox9_activation_N   
Related proteins : CluSTrP31269
Domain families : Pfam (SRS)Homeobox (PF00046)    Hox9_act (PF04617)   
Domain families : Pfam (Sanger)Homeobox (PF00046)    Hox9_act (PF04617)   
Domain families : Pfam (NCBI)pfam00046    pfam04617   
Domain families : Smart (EMBL)HOX (SM00389)  
Blocks (Seattle)P31269
Human Protein AtlasENSG00000078399
HPRD00844
IPIIPI00010744   IPI00031722   IPI00382764   IPI01009403   
Protein Interaction databases
DIP (DOE-UCLA)P31269
IntAct (EBI)P31269
FunCoupENSG00000078399
REACTOMEHOXA9
BioGRIDHOXA9
InParanoidP31269
Interologous Interaction database P31269
Polymorphism : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)HOXA9
SNP (GeneSNP Utah)HOXA9
SNP : HGBaseHOXA9
Genetic variants : HAPMAPHOXA9
Cancer Gene: CensusHOXA9 
Somatic Mutations in Cancer : COSMICHOXA9 
CONAN: Copy Number AnalysisHOXA9 
Translocation Breakpoints in Cancer : TICdbHOXA9 
Mutations and Diseases : HGMDHOXA9
OMIM142956   
GENETests142956   
Disease Genetic AssociationHOXA9
Huge Navigator HOXA9 [HugePedia]  HOXA9 [HugeCancerGEM]
Genomic VariantsHOXA9
snp3D : Map Gene to Disease3205
General knowledge
Homologs : HomoloGeneHOXA9
Homology/Alignments : Family Browser (UCSC)HOXA9
Phylogenetic Trees/Animal Genes : TreeFamHOXA9
Chemical/Protein Interactions : CTD3205
Chemical/Pharm GKB GenePA29386
Clinical trialHOXA9
Cancer Resource (Charite)ENSG00000078399
Ontology : AmiGOsequence-specific DNA binding transcription factor activity  protein binding  nucleus  transcription factor complex  cytoplasm  multicellular organismal development  anterior/posterior pattern specification  proximal/distal pattern formation  mammary gland development  embryonic forelimb morphogenesis  sequence-specific DNA binding  embryonic skeletal system development  definitive hemopoiesis  
Ontology : EGO-EBIsequence-specific DNA binding transcription factor activity  protein binding  nucleus  transcription factor complex  cytoplasm  multicellular organismal development  anterior/posterior pattern specification  proximal/distal pattern formation  mammary gland development  embryonic forelimb morphogenesis  sequence-specific DNA binding  embryonic skeletal system development  definitive hemopoiesis  
Other databases
Probes
Probes : ImagenesHOXA9 Related clones (RZPD - Berlin)
Litterature
PubMed81 Pubmed reference(s) in Entrez
PubGeneHOXA9
iHOPHOXA9

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 articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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Contributor(s)

Written01-1998Jean-loup Huret

Citation

This paper should be referenced as such :
Huret JL . HOXA9 (homeobox A9). Atlas Genet Cytogenet Oncol Haematol. January 1998 .
URL : http://AtlasGeneticsOncology.org/Genes/HOXA9.html

This paper is referenced by INIST as such :
http://documents.irevues.inist.fr/bitstream/handle/2042/32092/01-1998-HOXA9.pdf   [ Bibliographic record ]

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indexed on : Sat Apr 28 15:06:27 CEST 2012

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