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HOXA9 homeobox A9

Identity

Other namesHOX1G (homeobox-1G);
HGNC (Hugo) HOXA9
Location 7p15
Location_base_pair Starts at 27203224 and ends at 27205076 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]  HOXA9 [Vega]
AceView (NCBI)HOXA9
Genatlas (Paris)HOXA9
euGene (Indiana)3205
SOURCE (Stanford)NM_152739
Gene Expression (Array Express) ENSG00000078399
Genomic and cartography
GoldenPath (UCSC)HOXA9  -  7p15   chr7:27203224-27205076 -  7p15.2   [Description]    (hg19-Feb_2009)
EnsemblHOXA9 - 7p15.2 [CytoView]
Mapping of homologs : NCBIHOXA9 [Mapview]
OMIM142956   
Gene and transcription
Gene : Genbank (Entrez)AM393527 AW612618 BC006537 BC010023 BG258601
Reference sequence (RefSeq transcript) :SRSNM_152739
Reference transcript : EntrezNM_152739
RefSeq genomic : SRSAC_000050 AC_000068 AC_000139 NC_000007 NT_007819 NT_079592 NW_001839003 NW_923240
RefSeq genomic : EntrezAC_000050 AC_000068 AC_000139 NC_000007 NT_007819 NT_079592 NW_001839003 NW_923240
Consensus coding sequences : CCDS NCBIHOXA9
Cluster EST : UnigeneHs.659350 [ SRS ] Hs.659350 [ NCBI ]
Alternative Splicing : Fast-db (Paris)3197
Protein : pattern, domain, 3D structure
Protein : UniProt/SwissProtP31269 (SRS) P31269 (Expasy) P31269 (Uniprot)
With graphics : InterProP31269
Splice isoforms : VarSplice FASTAP31269(VarSplice FASTA)
Domaine pattern : Prosite (SRS)HOMEOBOX_1 (PS00027)    HOMEOBOX_2 (PS50071)   
Domain pattern : Prosite (Expaxy)HOMEOBOX_1 (PS00027)    HOMEOBOX_2 (PS50071)   
Domains : Interpro (SRS)Homeobox    Homeobox_CS    Homeobox_Hox9    Homeobox_region    Homeodomain-like    Homeodomain-rel    Hox9_activation_N   
Domains : Interpro (EBI)Homeobox    Homeobox_CS    Homeobox_Hox9    Homeobox_region    Homeodomain-like    Homeodomain-rel    Hox9_activation_N   
Related proteins : CluSTrP31269
Domain families : Pfam SRSHomeobox (PF00046)    Hox9_act (PF04617)   
Domain families : Pfam SangerHomeobox (PF00046)    Hox9_act (PF04617)   
Domain families : Pfam NCBIpfam00046    pfam04617   
Domain families : Smart EMBLHOX (SM00389)  
Blocks (Seattle)P31269
Crystal structure of protein : PDB SRS
Crystal structure of protein : PDBSum
Crystal structure of protein : IMB
Crystal structure of protein : PDB RSDB
Human Protein AtlasENSG00000078399
HPRD00844
Protein Interaction databases
DIP (DOE-UCLA)P31269
IntAct (EBI)P31269
FunCoupENSG00000078399
Polymorphism : SNP, mutations, diseases
Single Nucleotide Polymorphism (SNP) : dbSNP NCBIHOXA9
SNP : GeneSNP UtahHOXA9
SNP : HGBaseHOXA9
Genetic variants : HAPMAPHOXA9
Cancer Gene: CensusHOXA9 
Somatic Mutations in Cancer : COSMICHOXA9 
Translocation Breakpoints in Cancer : TICdbHOXA9 
Mutations and Diseases : HGMDHOXA9
Hereditary diseases : OMIM142956   
Hereditary diseases : GENETests142956   
Diseases : Genetic AssociationHOXA9
General knowledge
Homologs : HomoloGeneHOXA9
Homology/Alignments : Family Browser UCSCHOXA9
Phylogenetic Trees/Animal Genes : TreeFamHOXA9
Chemical/Protein Interactions : CTD3205
Keywords Ontology : AmiGOtranscription factor activity  protein binding  nucleus  regulation of transcription, DNA-dependent  multicellular organismal development  transcription activator activity  sequence-specific DNA binding  
Keywords Ontology : EGO-EBItranscription factor activity  protein binding  nucleus  regulation of transcription, DNA-dependent  multicellular organismal development  transcription activator activity  sequence-specific DNA binding  
Pathways : BIOCARTA
Pathways : KEGG
Other databases
Probes
Probes : ImagenesHOXA9 Related clones (RZPD - Berlin)
Literature
PubMed72 Pubmed reference(s) in Entrez
PubGeneHOXA9

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

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indexed on : Tue Aug 31 20:09:36 CEST 2010
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