HOXB1 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, located on different chromosomes, consisting of 9 to 11 genes arranged in tandem. This gene is one of several homeobox HOXB genes located in a cluster on chromosome 17. [provided by RefSeq, Jul 2008]
Details
| Type | Protein Coding |
| Official Symbol | HOXB1 |
| Official Name | homeobox B1 [Source:HGNC Symbol;Acc:HGNC:5111] |
| Ensembl ID | ENSG00000120094 |
| Bio databases IDs | |
| Aliases | homeobox B1 |
| Synonyms | HCFP3, homeo box B1, HOX2, Hox-2.9, HOX2I |
| 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 HOXB1 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
- double-stranded DNA binding
- nucleic acid binding
- protein domain specific binding
- sequence-specific DNA binding
- homeodomain
- DNA binding
- YPWMK motif
Pathways
Biological processes and signaling networks where the HOXB1 gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- hereditary congenital facial paresis type 3
role in cell
- apoptosis
- transcription in
- quantity
- transactivation in
- development
- migration
- survival
- 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
- chromatin
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human HOXB1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- rhombomere 4 development
- rhombomere 5 development
- anterior/posterior pattern specification
- pattern specification process
- regulation of transcription, DNA-dependent
- anatomical structure formation involved in morphogenesis
- facial nucleus development
- facial nerve structural organization
- positive regulation of transcription from RNA polymerase II promoter
- embryonic skeletal system morphogenesis
- regulation of transcription from RNA polymerase II promoter
Cellular Component
Where in the cell the gene product is active
- nucleus
- chromatin
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- DNA binding
- protein domain specific binding
- RNA polymerase II core promoter proximal region sequence-specific DNA binding
- RNA polymerase II regulatory 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