HOXA11 (homeobox A11)
2006-06-01 Barbara Cauwelier , Frank Speleman AffiliationCentrum Medische Genetica Gent- CMGG, Medical Research Building- MRB, 2 nd floor, room 120.024, De Pintelaan 185, B-9000 Ghent, Belgium
Identity
HGNC
LOCATION
7p15.2
LOCUSID
ALIAS
HOX1,HOX1I,RUSAT1
FUSION GENES
DNA/RNA
Description
spans a 3,7 kb genomic region containing 2 exons
Transcription
mRNA 2295 bp
Proteins
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
Entity name
inv(7)(p15q34), t(7;7)(p15;q34)
Cytogenetics
Fusion protein
no fusion protein but ectopic expression of HOXA10 and HOXA11
Entity name
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 gene
5 NUP98-3HOXA11
Article Bibliography
| Pubmed ID | Last Year | Title | Authors |
|---|---|---|---|
| 10926774 | 2000 | Characterization of Hoxa-10/Hoxa-11 transheterozygotes reveals functional redundancy and regulatory interactions. | Branford WW et al |
| 7596412 | 1995 | Absence of radius and ulna in mice lacking hoxa-11 and hoxd-11. | Davis AP et al |
| 11830496 | 2002 | 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 et al |
| 9160706 | 1997 | Abnormal uterine stromal and glandular function associated with maternal reproductive defects in Hoxa-11 null mice. | Gendron RL et al |
| 7789268 | 1995 | Hoxa 11 structure, extensive antisense transcription, and function in male and female fertility. | Hsieh-Li HM et al |
| 7902826 | 1993 | Homeotic transformations and limb defects in Hox A11 mutant mice. | Small KM et al |
| 15774621 | 2005 | HOXA genes are included in genetic and biologic networks defining human acute T-cell leukemia (T-ALL). | Soulier J et al |
| 15674412 | 2005 | 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 et al |
| 12764384 | 2003 | Homeobox gene expression profile in human hematopoietic multipotent stem cells and T-cell progenitors: implications for human T-cell development. | Taghon T et al |
| 11101832 | 2000 | Amegakaryocytic thrombocytopenia and radio-ulnar synostosis are associated with HOXA11 mutation. | Thompson AA et al |
| 12869760 | 2003 | Hox10 and Hox11 genes are required to globally pattern the mammalian skeleton. | Wellik DM et al |
Other Information
Locus ID:
NCBI: 3207
MIM: 142958
HGNC: 5101
Ensembl: ENSG00000005073
Variants:
dbSNP: 3207
ClinVar: 3207
TCGA: ENSG00000005073
COSMIC: HOXA11
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000005073 | ENST00000006015 | P31270 |
| ENSG00000005073 | ENST00000517402 | H0YIA6 |
Expression (GTEx)
Pathways
| Pathway | Source | External ID |
|---|---|---|
| Transcriptional misregulation in cancer | KEGG | ko05202 |
| Transcriptional misregulation in cancer | KEGG | hsa05202 |
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 37989866 | 2024 | Tumor-mesothelium HOXA11-PDGF BB/TGF β1-miR-181a-5p-Egr1 feedforward amplifier circuity propels mesothelial fibrosis and peritoneal metastasis of gastric cancer. | 1 |
| 37989866 | 2024 | Tumor-mesothelium HOXA11-PDGF BB/TGF β1-miR-181a-5p-Egr1 feedforward amplifier circuity propels mesothelial fibrosis and peritoneal metastasis of gastric cancer. | 1 |
| 36661031 | 2023 | lncRNA HOXA11-AS maintains the stemness of oral squamous cell carcinoma stem cells and reduces the radiosensitivity by targeting miR-518a-3p/PDK1. | 2 |
| 36815373 | 2023 | Cooperation between NSPc1 and DNA methylation represses HOXA11 expression and promotes apoptosis of trophoblast cells during preeclampsia. | 0 |
| 36900953 | 2023 | Endometrial Injury Upregulates Expression of Receptivity Genes in Women with Implantation Failure. | 0 |
| 36661031 | 2023 | lncRNA HOXA11-AS maintains the stemness of oral squamous cell carcinoma stem cells and reduces the radiosensitivity by targeting miR-518a-3p/PDK1. | 2 |
| 36815373 | 2023 | Cooperation between NSPc1 and DNA methylation represses HOXA11 expression and promotes apoptosis of trophoblast cells during preeclampsia. | 0 |
| 36900953 | 2023 | Endometrial Injury Upregulates Expression of Receptivity Genes in Women with Implantation Failure. | 0 |
| 34844098 | 2022 | Combined expression of HOXA11 and CD10 identifies endometriosis versus normal tissue and tumors. | 3 |
| 35106863 | 2022 | The lncRNA HOXA11-AS acts as a tumor promoter in breast cancer through regulation of the miR-125a-5p/TMPRSS4 axis. | 7 |
| 35430506 | 2022 | Decreased expression of transcription factor Homeobox A11 and its potential target genes in bladder cancer. | 3 |
| 34844098 | 2022 | Combined expression of HOXA11 and CD10 identifies endometriosis versus normal tissue and tumors. | 3 |
| 35106863 | 2022 | The lncRNA HOXA11-AS acts as a tumor promoter in breast cancer through regulation of the miR-125a-5p/TMPRSS4 axis. | 7 |
| 35430506 | 2022 | Decreased expression of transcription factor Homeobox A11 and its potential target genes in bladder cancer. | 3 |
| 34080665 | 2021 | HOXA11 plays critical roles in disease progression and response to cytarabine in AML. | 4 |
Citation
Barbara Cauwelier ; Frank Speleman
HOXA11 (homeobox A11)
Atlas Genet Cytogenet Oncol Haematol. 2006-06-01
Online version: http://atlasgeneticsoncology.org/gene/40847/hoxa11-(homeobox-a11)
