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HOXA11 (homeobox A11)

Written2006-06Barbara Cauwelier, Frank Speleman
Centrum Medische Genetica Gent- CMGG, Medical Research Building- MRB, 2 nd floor, room 120.024, De Pintelaan 185, B-9000 Ghent, Belgium

(Note : for Links provided by Atlas : click)

Identity

Alias_namesHOX1I
HOX1
homeo box A11
Other aliasHOX1I (HOMEOBOX 1I)
HGNC (Hugo) HOXA11
LocusID (NCBI) 3207
Atlas_Id 40847
Location 7p15.2  [Link to chromosome band 7p15]
Location_base_pair Starts at 27181157 and ends at 27185216 bp from pter ( according to hg19-Feb_2009)  [Mapping HOXA11.png]
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
C2CD5 (12p12.1) / HOXA11 (7p15.2)DPY19L1 (7p14.2) / HOXA11 (7p15.2)DPY19L1 (7p14.3) / HOXA11 (7p15.2)
HOXA11 (7p15.2) / NUP98 (11p15.4)NUP98 (11p15.4) / HOXA11 (7p15.2)

DNA/RNA

 
Description spans a 3,7 kb genomic region containing 2 exons
Transcription mRNA 2295 bp

Protein

 
  homeobox containing protein with C terminal localisation of the homedomain. N terminal several repeat regions: 1: Poly-Ser; 2: Poly-Arg; 3 :Poly-Ala; 4: Poly-Gly; 5: Poly-Ala.
Description 313 amino acids, 34.5 kDa, contains a homeodomain with helix-turn-helix (HTH) motif. The HTH motif consists of approximately 20 residues and is characterised by 2 alpha-helices, which make intimate contacts with the DNA and are joined by a short turn. The second helix of the HTH motif binds to DNA via a number of hydrogen bonds and hydrophobic interactions, which occur between specific side chains and the exposed bases and thymine methyl groups within the major groove of the DNA. The first helix helps to stabilise the structure.
Expression in lung, bone, uterus, placenta, testis, prostate, liver, hematopoietic precursor cells, endometrium
Localisation nucleus
Function Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis. HOXA11 is involved in the regulation of uterine development and is required for female fertility. Expression of HOXA11 is detected at all differentiation stages of normal T cells in the thymus, suggesting a role in normal T cell development.
Homology homolog to murine Hox-1.9; ABD-B homeobox family

Mutations

Germinal Mutation of HOXA11 in radio-ulnar synostosis with amegakaryotic thrombocytopenia; autosomal dominant inheritance; 1-bp deletion in exon 2 of the HOXA11 gene. Deletion of an adenine converted AAC (asparagine) to ACA (threonine), resulting in a premature termination codon and truncation of the remaining 22 amino acids of the HOXA11 protein.

Implicated in

Note
  
Entity inv(7)(p15q34), t(7;7)(p15;q34)
Disease T-cell acute lymphoblastic leukemia
Cytogenetics inv(7)(p15q34) or t(7;7)(p15;q34) places 5'HOXA cluster genes (7p15) under the influence of strong enhancers within the TCRB locus (7q34) resulting in ectopic expression of especially HOXA10 and HOXA11
Abnormal Protein no fusion protein but ectopic expression of HOXA10 and HOXA11
  
  
Entity t(7;11)(p15;p15)
Disease CML, only once reported
Prognosis unknown
Cytogenetics this rearrangement fuses the 5' NUP98 gene in frame to the 3' HOXA11 gene generation a chimeric fusion transcript
Hybrid/Mutated Gene 5' NUP98-3'HOXA11
  

Bibliography

Characterization of Hoxa-10/Hoxa-11 transheterozygotes reveals functional redundancy and regulatory interactions.
Branford WW, Benson GV, Ma L, Maas RL, Potter SS
Developmental biology. 2000 ; 224 (2) : 373-387.
PMID 10926774
 
Absence of radius and ulna in mice lacking hoxa-11 and hoxd-11.
Davis AP, Witte DP, Hsieh-Li HM, Potter SS, Capecchi MR
Nature. 1995 ; 375 (6534) : 791-795.
PMID 7596412
 
Single-translocation and double-chimeric transcripts: detection of NUP98-HOXA9 in myeloid leukemias with HOXA11 or HOXA13 breaks of the chromosomal translocation t(7;11)(p15;p15).
Fujino T, Suzuki A, Ito Y, Ohyashiki K, Hatano Y, Miura I, Nakamura T
Blood. 2002 ; 99 (4) : 1428-1433.
PMID 11830496
 
Abnormal uterine stromal and glandular function associated with maternal reproductive defects in Hoxa-11 null mice.
Gendron RL, Paradis H, Hsieh-Li HM, Lee DW, Potter SS, Markoff E
Biology of reproduction. 1997 ; 56 (5) : 1097-1105.
PMID 9160706
 
Hoxa 11 structure, extensive antisense transcription, and function in male and female fertility.
Hsieh-Li HM, Witte DP, Weinstein M, Branford W, Li H, Small K, Potter SS
Development (Cambridge, England). 1995 ; 121 (5) : 1373-1385.
PMID 7789268
 
Homeotic transformations and limb defects in Hox A11 mutant mice.
Small KM, Potter SS
Genes & development. 1993 ; 7 (12A) : 2318-2328.
PMID 7902826
 
HOXA genes are included in genetic and biologic networks defining human acute T-cell leukemia (T-ALL).
Soulier J, Clappier E, Cayuela JM, Regnault A, García-Peydró M, Dombret H, Baruchel A, Toribio ML, Sigaux F
Blood. 2005 ; 106 (1) : 274-286.
PMID 15774621
 
A new recurrent inversion, inv(7)(p15q34), leads to transcriptional activation of HOXA10 and HOXA11 in a subset of T-cell acute lymphoblastic leukemias.
Speleman F, Cauwelier B, Dastugue N, Cools J, Verhasselt B, Poppe B, Van Roy N, Vandesompele J, Graux C, Uyttebroeck A, Boogaerts M, De Moerloose B, Benoit Y, Selleslag D, Billiet J, Robert A, Huguet F, Vandenberghe P, De Paepe A, Marynen P, Hagemeijer A
Leukemia : official journal of the Leukemia Society of America, Leukemia Research Fund, U.K. 2005 ; 19 (3) : 358-366.
PMID 15674412
 
Homeobox gene expression profile in human hematopoietic multipotent stem cells and T-cell progenitors: implications for human T-cell development.
Taghon T, Thys K, De Smedt M, Weerkamp F, Staal FJ, Plum J, Leclercq G
Leukemia : official journal of the Leukemia Society of America, Leukemia Research Fund, U.K. 2003 ; 17 (6) : 1157-1163.
PMID 12764384
 
Amegakaryocytic thrombocytopenia and radio-ulnar synostosis are associated with HOXA11 mutation.
Thompson AA, Nguyen LT
Nature genetics. 2000 ; 26 (4) : 397-398.
PMID 11101832
 
Hox10 and Hox11 genes are required to globally pattern the mammalian skeleton.
Wellik DM, Capecchi MR
Science (New York, N.Y.). 2003 ; 301 (5631) : 363-367.
PMID 12869760
 

Citation

This paper should be referenced as such :
Cauwelier, B ; Speleman, F
HOXA11 (homeobox A11)
Atlas Genet Cytogenet Oncol Haematol. 2006;10(4):234-235.
Free journal version : [ pdf ]   [ DOI ]
On line version : http://AtlasGeneticsOncology.org/Genes/HOXA11ID40847ch7p15.html


Other Leukemias implicated (Data extracted from papers in the Atlas) [ 2 ]
  inv(7)(p15q34) TRB/HOXA10::t(7;7)(p15;q34) TRB/HOXA10
T-lineage acute lymphoblastic leukemia (T-ALL)


External links

Nomenclature
HGNC (Hugo)HOXA11   5101
LRG (Locus Reference Genomic)LRG_561
Cards
AtlasHOXA11ID40847ch7p15
Entrez_Gene (NCBI)HOXA11  3207  homeobox A11
AliasesHOX1; HOX1I; RUSAT1
GeneCards (Weizmann)HOXA11
Ensembl hg19 (Hinxton)ENSG00000005073 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000005073 [Gene_View]  chr7:27181157-27185216 [Contig_View]  HOXA11 [Vega]
ICGC DataPortalENSG00000005073
TCGA cBioPortalHOXA11
AceView (NCBI)HOXA11
Genatlas (Paris)HOXA11
WikiGenes3207
SOURCE (Princeton)HOXA11
Genetics Home Reference (NIH)HOXA11
Genomic and cartography
GoldenPath hg38 (UCSC)HOXA11  -     chr7:27181157-27185216 -  7p15.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)HOXA11  -     7p15.2   [Description]    (hg19-Feb_2009)
EnsemblHOXA11 - 7p15.2 [CytoView hg19]  HOXA11 - 7p15.2 [CytoView hg38]
Mapping of homologs : NCBIHOXA11 [Mapview hg19]  HOXA11 [Mapview hg38]
OMIM142958   605432   
Gene and transcription
Genbank (Entrez)AK313921 AL551705 BC033706 BC040948 EU446480
RefSeq transcript (Entrez)NM_005523
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)HOXA11
Cluster EST : UnigeneHs.249171 [ NCBI ]
CGAP (NCI)Hs.249171
Alternative Splicing GalleryENSG00000005073
Gene ExpressionHOXA11 [ NCBI-GEO ]   HOXA11 [ EBI - ARRAY_EXPRESS ]   HOXA11 [ SEEK ]   HOXA11 [ MEM ]
Gene Expression Viewer (FireBrowse)HOXA11 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)3207
GTEX Portal (Tissue expression)HOXA11
Human Protein AtlasENSG00000005073-HOXA11 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP31270   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP31270  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP31270
Splice isoforms : SwissVarP31270
PhosPhoSitePlusP31270
Domaine pattern : Prosite (Expaxy)HOMEOBOX_1 (PS00027)    HOMEOBOX_2 (PS50071)   
Domains : Interpro (EBI)DUF3528    Homeobox-like    Homeobox_CS    Homeobox_dom    Homeobox_metazoa   
Domain families : Pfam (Sanger)DUF3528 (PF12045)    Homeobox (PF00046)   
Domain families : Pfam (NCBI)pfam12045    pfam00046   
Domain families : Smart (EMBL)HOX (SM00389)  
Conserved Domain (NCBI)HOXA11
DMDM Disease mutations3207
Blocks (Seattle)HOXA11
SuperfamilyP31270
Human Protein Atlas [tissue]ENSG00000005073-HOXA11 [tissue]
Peptide AtlasP31270
HPRD00846
IPIIPI00010754   IPI01020690   
Protein Interaction databases
DIP (DOE-UCLA)P31270
IntAct (EBI)P31270
FunCoupENSG00000005073
BioGRIDHOXA11
STRING (EMBL)HOXA11
ZODIACHOXA11
Ontologies - Pathways
QuickGOP31270
Ontology : AmiGOskeletal system development  metanephros development  branching involved in ureteric bud morphogenesis  organ induction  nucleoplasm  transcription factor complex  transcription, DNA-templated  multicellular organism development  spermatogenesis  single fertilization  mesodermal cell fate specification  male gonad development  anatomical structure morphogenesis  anterior/posterior pattern specification  dorsal/ventral pattern formation  proximal/distal pattern formation  positive regulation of cell development  embryonic limb morphogenesis  positive regulation of chondrocyte differentiation  protein-DNA complex  embryonic forelimb morphogenesis  embryonic digit morphogenesis  protein complex  sequence-specific DNA binding  positive regulation of transcription, DNA-templated  developmental growth  uterus development  embryonic skeletal joint morphogenesis  cartilage development involved in endochondral bone morphogenesis  
Ontology : EGO-EBIskeletal system development  metanephros development  branching involved in ureteric bud morphogenesis  organ induction  nucleoplasm  transcription factor complex  transcription, DNA-templated  multicellular organism development  spermatogenesis  single fertilization  mesodermal cell fate specification  male gonad development  anatomical structure morphogenesis  anterior/posterior pattern specification  dorsal/ventral pattern formation  proximal/distal pattern formation  positive regulation of cell development  embryonic limb morphogenesis  positive regulation of chondrocyte differentiation  protein-DNA complex  embryonic forelimb morphogenesis  embryonic digit morphogenesis  protein complex  sequence-specific DNA binding  positive regulation of transcription, DNA-templated  developmental growth  uterus development  embryonic skeletal joint morphogenesis  cartilage development involved in endochondral bone morphogenesis  
Pathways : KEGGTranscriptional misregulation in cancer   
NDEx NetworkHOXA11
Atlas of Cancer Signalling NetworkHOXA11
Wikipedia pathwaysHOXA11
Orthology - Evolution
OrthoDB3207
GeneTree (enSembl)ENSG00000005073
Phylogenetic Trees/Animal Genes : TreeFamHOXA11
HOVERGENP31270
HOGENOMP31270
Homologs : HomoloGeneHOXA11
Homology/Alignments : Family Browser (UCSC)HOXA11
Gene fusions - Rearrangements
Fusion : MitelmanDPY19L1/HOXA11 [7p14.3/7p15.2]  [t(7;7)(p14;p15)]  
Fusion : MitelmanNUP98/HOXA11 [11p15.4/7p15.2]  [t(7;11)(p15;p15)]  
Fusion : MitelmanTRB/HOXA11 [-/7p15.2]  [inv(7)(p15q34)]  
Tumor Fusion PortalHOXA11
Fusion : TICdbNUP98 [11p15.4]  -  HOXA11 [7p15.2]
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerHOXA11 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)HOXA11
dbVarHOXA11
ClinVarHOXA11
1000_GenomesHOXA11 
Exome Variant ServerHOXA11
ExAC (Exome Aggregation Consortium)ENSG00000005073
GNOMAD BrowserENSG00000005073
Genetic variants : HAPMAP3207
Genomic Variants (DGV)HOXA11 [DGVbeta]
DECIPHERHOXA11 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisHOXA11 
Mutations
ICGC Data PortalHOXA11 
TCGA Data PortalHOXA11 
Broad Tumor PortalHOXA11
OASIS PortalHOXA11 [ Somatic mutations - Copy number]
Cancer Gene: CensusHOXA11 
Somatic Mutations in Cancer : COSMICHOXA11  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDHOXA11
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch HOXA11
DgiDB (Drug Gene Interaction Database)HOXA11
DoCM (Curated mutations)HOXA11 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)HOXA11 (select a term)
intoGenHOXA11
NCG5 (London)HOXA11
Cancer3DHOXA11(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM142958    605432   
Orphanet11011   
DisGeNETHOXA11
MedgenHOXA11
Genetic Testing Registry HOXA11
NextProtP31270 [Medical]
TSGene3207
GENETestsHOXA11
Target ValidationHOXA11
Huge Navigator HOXA11 [HugePedia]
snp3D : Map Gene to Disease3207
BioCentury BCIQHOXA11
ClinGenHOXA11
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD3207
Chemical/Pharm GKB GenePA29378
Clinical trialHOXA11
Miscellaneous
canSAR (ICR)HOXA11 (select the gene name)
Probes
Litterature
PubMed54 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineHOXA11
EVEXHOXA11
GoPubMedHOXA11
iHOPHOXA11
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Nov 21 14:52:31 CET 2017

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