HOXC11 Gene Summary [Human]
This gene belongs to the homeobox family of genes. The homeobox genes encode a highly conserved family of transcription factors that play an important role in morphogenesis in all multicellular organisms. Mammals possess four similar homeobox gene clusters, HOXA, HOXB, HOXC and HOXD, which are located on different chromosomes and consist of 9 to 11 genes arranged in tandem. This gene is one of several homeobox HOXC genes located in a cluster on chromosome 12. The product of this gene binds to a promoter element of the lactase-phlorizin hydrolase. It also may play a role in early intestinal development. An alternatively spliced variant encoding a shorter isoform has been described but its full-length nature has not been determined. [provided by RefSeq, Jul 2008]
Details
| Type | Protein Coding |
| Official Symbol | HOXC11 |
| Official Name | homeobox C11 [Source:HGNC Symbol;Acc:HGNC:5123] |
| Ensembl ID | ENSG00000123388 |
| Bio databases IDs | |
| Aliases | homeobox C11 |
| Synonyms | homeobox C11, homeobox protein Hox-C11-like, Hox-3.7, HOX3H, LOC100911859, RGD1305450 |
| 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 HOXC11 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- RNA polymerase II transcription regulatory region sequence-specific binding transcriptional activator activity
- RNA polymerase II transcription factor activity, sequence-specific DNA binding
- transcription regulator
- nucleic acid binding
- double-stranded DNA binding
- Protein of unknown function (DUF3528)
- protein binding
- sequence-specific DNA binding
- homeodomain
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- hypoplasia
- Ewing sarcoma
- osteosarcomagenesis
- clear cell sarcoma of the kidney
- renal cancer
- soft tissue sarcoma cancer
role in cell
- expression in
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
- cytosol
- nucleoplasm
- chromatin
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human HOXC11 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- metanephros development
- embryonic skeletal joint morphogenesis
- endoderm development
- anterior/posterior pattern specification
- organ induction
- anatomical structure development
- positive regulation of transcription from RNA polymerase II promoter
- proximal/distal pattern formation
- embryonic digit morphogenesis
- regulation of transcription from RNA polymerase II promoter
Cellular Component
Where in the cell the gene product is active
- nucleus
- cytosol
- chromatin
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- protein binding
- RNA polymerase II core promoter proximal region sequence-specific DNA binding
- RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription
- sequence-specific DNA binding RNA polymerase II transcription factor activity