HOXA11 Gene Summary [Human]
In vertebrates, the genes encoding the class of transcription factors called homeobox genes are found in clusters named A, B, C, and D on four separate chromosomes. Expression of these proteins is spatially and temporally regulated during embryonic development. This gene is part of the A cluster on chromosome 7 and encodes a DNA-binding transcription factor which may regulate gene expression, morphogenesis, and differentiation. This gene is involved in the regulation of uterine development and is required for female fertility. Mutations in this gene can cause radio-ulnar synostosis with amegakaryocytic thrombocytopenia. [provided by RefSeq, Jul 2008]
Details
| Type | Protein Coding |
| Official Symbol | HOXA11 |
| Official Name | homeobox A11 [Source:HGNC Symbol;Acc:HGNC:5101] |
| Ensembl ID | ENSG00000005073 |
| Bio databases IDs | |
| Aliases | homeobox A11 |
| Synonyms | homeobox A11, HOX1, Hox-1.9, HOX1I, Hoxa10, LOC100911743, RGD1564605, RGD1566402, RUSAT1 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human HOXA11 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- transcription regulator
- double-stranded DNA binding
- Protein of unknown function (DUF3528)
- protein binding
- sequence-specific DNA binding
- homeodomain
- DNA binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- radioulnar synostosis with amegakaryocytic thrombocytopenia type 1
- hypoplasia
- organismal death
- hypertension
- infertility condition
- cryptorchidism
- syndactyly
- azoospermia
- major depression
- uterine serous papillary cancer
role in cell
- apoptosis
- expression in
- migration
- proliferation
- growth
- specification
- osteogenic differentiation
- colony formation by
- development
- differentiation
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Nucleus
- nucleoplasm
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human HOXA11 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- response to estrogen stimulus
- male gonad development
- uterus development
- anatomical structure development
- anterior/posterior pattern specification
- chondrocyte development
- anatomical structure morphogenesis
- single fertilization
- proximal/distal pattern formation
- embryonic digit morphogenesis
- dorsal/ventral pattern formation
- embryonic limb morphogenesis
- skeletal system development
- positive regulation of transcription, DNA-dependent
- response to testosterone stimulus
- embryonic forelimb morphogenesis
- embryonic skeletal joint morphogenesis
- spermatogenesis
- cartilage development involved in endochondral bone morphogenesis
- developmental growth
- regulation of transcription from RNA polymerase II promoter
- mesodermal cell fate specification
- metanephros development
- branching involved in ureteric bud morphogenesis
- organ induction
- positive regulation of cell development
- positive regulation of chondrocyte differentiation
- prostate gland development
Cellular Component
Where in the cell the gene product is active
- nucleus
- transcription factor complex
- protein-DNA complex
- macromolecular complex
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- RNA polymerase II core promoter proximal region sequence-specific DNA binding
- sequence-specific DNA binding RNA polymerase II transcription factor activity