ID:HXA11_HUMAN DESCRIPTION: RecName: Full=Homeobox protein Hox-A11; AltName: Full=Homeobox protein Hox-1I; 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. SUBCELLULAR LOCATION: Nucleus. DISEASE: Defects in HOXA11 are the cause of radioulnar synostosis with amegakaryocytic thrombocytopenia (RSAT) [MIM:605432]. The syndrome consists of an unusual association of bone marrow failure and skeletal defects. Patients have the same skeletal defects, the proximal fusion of the radius and ulna, resulting in extremely limited pronation and supination of the forearm. Some patients have also symptomatic thrombocytopenia, with bruising and bleeding problems since birth, necessitating correction by bone marrow or umbilical-cord stem-cell transplantation. SIMILARITY: Belongs to the Abd-B homeobox family. SIMILARITY: Contains 1 homeobox DNA-binding domain. WEB RESOURCE: Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/HOXA11ID40847ch7p15.html";
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on P31270
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Gene Ontology (GO) Annotations with Structured Vocabulary
Molecular Function: GO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding GO:0003677 DNA binding GO:0043565 sequence-specific DNA binding
Biological Process: GO:0001501 skeletal system development GO:0001656 metanephros development GO:0001658 branching involved in ureteric bud morphogenesis GO:0001759 organ induction GO:0006351 transcription, DNA-templated GO:0006355 regulation of transcription, DNA-templated GO:0006357 regulation of transcription from RNA polymerase II promoter GO:0007275 multicellular organism development GO:0007283 spermatogenesis GO:0007338 single fertilization GO:0007501 mesodermal cell fate specification GO:0008584 male gonad development GO:0009653 anatomical structure morphogenesis GO:0009952 anterior/posterior pattern specification GO:0009953 dorsal/ventral pattern formation GO:0009954 proximal/distal pattern formation GO:0010468 regulation of gene expression GO:0010720 positive regulation of cell development GO:0030326 embryonic limb morphogenesis GO:0032330 regulation of chondrocyte differentiation GO:0032332 positive regulation of chondrocyte differentiation GO:0035115 embryonic forelimb morphogenesis GO:0042733 embryonic digit morphogenesis GO:0045893 positive regulation of transcription, DNA-templated GO:0048589 developmental growth GO:0060065 uterus development GO:0060272 embryonic skeletal joint morphogenesis GO:0060348 bone development GO:0060351 cartilage development involved in endochondral bone morphogenesis
US Server
Sequence and Links to Tools and Databases 
Common Gene Haplotype Alleles 
