Hoxa1 Gene Summary [Mouse]
Predicted to enable DNA-binding transcription activator activity, RNA polymerase II-specific; RNA polymerase II cis-regulatory region sequence-specific DNA binding activity; and identical protein binding activity. Acts upstream of or within several processes, including cellular response to ethanol; cellular response to retinoic acid; and nervous system development. Predicted to be located in nucleoplasm. Predicted to be active in nucleus. Is expressed in several structures, including brain; embryo ectoderm; embryo mesenchyme; genitourinary system; and gut. Used to study Athabaskan brainstem dysgenesis syndrome. Human ortholog(s) of this gene implicated in Athabaskan brainstem dysgenesis syndrome and autistic disorder. Orthologous to human HOXA1 (homeobox A1). [provided by Alliance of Genome Resources, Jul 2025]
Details
| Type | Protein Coding |
| Official Symbol | Hoxa1 |
| Official Name | homeobox A1 [Source:MGI Symbol;Acc:MGI:96170] |
| Ensembl ID | ENSMUSG00000029844 |
| Bio databases IDs | |
| Aliases | homeobox A1 |
| Synonyms | BSAS, ERA1, homeobox A1, HOX1, Hox-1.6, HOX1F, Hoxa1l, LOC100911406, NEWGENE 2812 |
| Species | Mouse, Mus musculus |
| 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 mouse Hoxa1 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
- basic tetrad
- double-stranded DNA binding
- protein binding
- sequence-specific DNA binding
- homeodomain
- identical protein binding
Pathways
Biological processes and signaling networks where the Hoxa1 gene in mouse 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
- glioblastoma
- glioblastoma cancer
- Athabaskan brainstem dysgenesis syndrome
- neoplastic cell transformation
- leukemia
- anoxia
- respiratory failure
- glossopharyngeal-vagus nerve fusion
- early missed abortion
- muscle spasm
phenotypes
- abnormal aortic arch morphology
- abnormal basioccipital bone morphology
- abnormal cardiac outflow tract development
- abnormal cardiovascular system morphology
- abnormal cochlea morphology
- abnormal cochlear sensory epithelium morphology
- abnormal cranial ganglia morphology
- abnormal cranial nerve morphology
- abnormal cranial neural crest cell migration
- abnormal crista ampullaris morphology
- abnormal exoccipital bone morphology
- abnormal external carotid artery morphology
- abnormal facial nerve morphology
- abnormal geniculate ganglion morphology
- abnormal gland morphology
- abnormal glossopharyngeal nerve morphology
- abnormal head morphology
- abnormal hindbrain morphology
- abnormal inner ear morphology
- abnormal inner ear vestibule morphology
- abnormal internal carotid artery morphology
- abnormal interparietal bone morphology
- abnormal membranous labyrinth morphology
- abnormal middle ear morphology
- abnormal otic capsule morphology
- abnormal otic vesicle development
- abnormal otic vesicle morphology
- abnormal outer ear morphology
- abnormal pons morphology
- abnormal reflex
- abnormal rhombomere boundary morphology
- abnormal rhombomere morphology
- abnormal semicircular canal morphology
- abnormal superior vagus ganglion morphology
- abnormal trigeminal ganglion morphology
- abnormal tympanic ring morphology
- abnormal utricular macula morphology
- abnormal vagus nerve morphology
- abnormal vestibular saccular macula morphology
- abnormal vestibulocochlear ganglion morphology
- absent cochlea
- absent cochlear ganglion
- absent cochlear nerve
- absent common crus
- absent endolymphatic duct
- absent endolymphatic sac
- absent facial nerve
- absent facial nuclei
- absent middle ear ossicles
- absent parathyroid glands
- absent posterior semicircular canal
- absent scala media
- absent semicircular canals
- absent stapes
- absent superior olivary complex
- absent superior semicircular canal
- absent utricle
- absent vestibular nerve
- absent vestibular saccule
- absent vestibulocochlear nerve
- anoxia
- bicuspid aortic valve
- cyanosis
- decreased rhombomere 4 size
- decreased rhombomere 5 size
- delayed neural tube closure
- facial paralysis
- fusion of glossopharyngeal and vagus nerve
- heart right ventricle hypertrophy
- increased hindbrain apoptosis
- increased rhombomere 3 size
- interrupted aortic arch
- muscle spasm
- neonatal lethality complete penetrance
- neonatal lethality incomplete penetrance
- no abnormal phenotype detected
- overriding aortic valve
- parathyroid hypoplasia
- perinatal lethality complete penetrance
- perinatal lethality incomplete penetrance
- postnatal lethality complete penetrance
- postnatal lethality incomplete penetrance
- respiratory failure
- retroesophageal right subclavian artery
- rhombomere fusion
- right aortic arch
- small facial motor nucleus
- small geniculate ganglion
- small malleus
- small otic vesicle
- small second pharyngeal arch
- small superior glossopharyngeal ganglion
- small superior vagus ganglion
- small vestibular ganglion
- thymus hypoplasia
- ventricular septal defect
role in cell
- quantity
- expression in
- apoptosis
- growth
- proliferation
- differentiation
- migration
- development
- invasion
- invasion by
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 mouse Hoxa1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- inner ear development
- cochlea development
- cochlea morphogenesis
- neuromuscular process
- embryonic neurocranium morphogenesis
- abducens nerve formation
- outer ear morphogenesis
- artery morphogenesis
- anatomical structure morphogenesis
- optokinetic behavior
- positive regulation of transcription from RNA polymerase II promoter
- artery development
- semicircular canal formation
- regulation of transcription from RNA polymerase II promoter
- regulation of behavior
- sensory perception of sound
- cognition
Cellular Component
Where in the cell the gene product is active
- nucleus
- chromatin
Molecular Function
What the gene product does at the molecular level
- identical protein binding
- 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
- sequence-specific DNA binding RNA polymerase II transcription factor activity