P42581 · HMX3_MOUSE
- ProteinHomeobox protein HMX3
- GeneHmx3
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids356 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
Function
function
Transcription factor involved in specification of neuronal cell types and which is required for inner ear and hypothalamus development. Binds to the 5'-CAAGTG-3' core sequence. Controls semicircular canal formation in the inner ear. Also required for hypothalamic/pituitary axis of the CNS.
Features
Showing features for dna binding.
Type | ID | Position(s) | Description | ||
---|---|---|---|---|---|
DNA binding | 227-286 | Homeobox | |||
GO annotations
all annotations | all molecular function | virus receptor activity | dna binding | rna binding | cytoskeletal motor activity | catalytic activity | gtpase activity | structural molecule activity | transporter activity | cytoskeletal protein binding | lipid binding | cyclase activity | antioxidant activity | oxidoreductase activity | transferase activity | hydrolase activity | lyase activity | isomerase activity | ligase activity | protein tag activity | cargo receptor activity | histone binding | protein folding chaperone | translation regulator activity | nutrient reservoir activity | receptor ligand activity | molecular transducer activity | molecular adaptor activity | toxin activity | cell adhesion mediator activity | molecular function regulator activity | virus coreceptor activity | catalytic activity, acting on a protein | catalytic activity, acting on dna | catalytic activity, acting on rna | molecular carrier activity | transcription regulator activity | general transcription initiation factor activity | molecular sensor activity | molecular sequestering activity | atp-dependent activity | other molecular function | all biological process | mitotic cell cycle | cytokinesis | cytoplasmic translation | immune system process | muscle system process | circulatory system process | renal system process | respiratory system process | carbohydrate metabolic process | generation of precursor metabolites and energy | dna replication | dna repair | dna recombination | chromatin organization | dna-templated transcription | regulation of dna-templated transcription | trna metabolic process | protein folding | protein glycosylation | amino acid metabolic process | modified amino acid metabolic process | lipid metabolic process | vitamin metabolic process | sulfur compound metabolic process | intracellular protein transport | nucleocytoplasmic transport | autophagy | inflammatory response | mitochondrion organization | cytoskeleton organization | microtubule-based movement | peroxisome organization | lysosome organization | chromosome segregation | cell adhesion | establishment or maintenance of cell polarity | programmed cell death | photosynthesis | mrna metabolic process | snrna metabolic process | vesicle-mediated transport | reproductive process | digestive system process | signaling | cell differentiation | protein catabolic process | extracellular matrix organization | regulatory ncrna-mediated gene silencing | telomere organization | cell junction organization | wound healing | ribosome biogenesis | cilium organization | anatomical structure development | cell motility | nervous system process | endocrine process | protein maturation | transmembrane transport | nucleobase-containing small molecule metabolic process | hepaticobiliary system process | membrane organization | protein-containing complex assembly | cell wall organization or biogenesis | nitrogen cycle metabolic process | protein localization to plasma membrane | defense response to other organism | detoxification | meiotic nuclear division | mitotic nuclear division | mitochondrial gene expression | carbohydrate derivative metabolic process | other biological process | all cellular component | nuclear chromosome | extracellular region | extracellular space | cell wall | nucleus | nuclear envelope | nucleoplasm | chromosome | nucleolus | mitochondrion | lysosome | endosome | vacuole | peroxisome | endoplasmic reticulum | golgi apparatus | lipid droplet | microtubule organizing center | cytosol | ribosome | cytoskeleton | plasma membrane | cilium | plastid | thylakoid | external encapsulating structure | extracellular matrix | cytoplasmic vesicle | organelle | other cellular component | |||
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Aspect | Term | |
---|---|---|
Cellular Component | nucleus | |
Molecular Function | DNA-binding transcription factor activity, RNA polymerase II-specific | |
Molecular Function | RNA polymerase II transcription regulatory region sequence-specific DNA binding | |
Molecular Function | sequence-specific DNA binding | |
Biological Process | brain development | |
Biological Process | cell differentiation | |
Biological Process | ear development | |
Biological Process | embryo implantation | |
Biological Process | inner ear morphogenesis | |
Biological Process | maternal process involved in female pregnancy | |
Biological Process | neuromuscular process controlling balance |
Keywords
- Molecular function
- Biological process
Names & Taxonomy
Protein names
- Recommended nameHomeobox protein HMX3
- Alternative names
Gene names
Organism names
- Organism
- Strain
- Taxonomic lineageEukaryota > Metazoa > Chordata > Craniata > Vertebrata > Euteleostomi > Mammalia > Eutheria > Euarchontoglires > Glires > Rodentia > Myomorpha > Muroidea > Muridae > Murinae > Mus > Mus
Accessions
- Primary accessionP42581
- Secondary accessions
Proteomes
Organism-specific databases
Subcellular Location
Phenotypes & Variants
Disruption phenotype
Mice display abnormal circling behavior and severe vestibular defects owing to a depletion of sensory cells in the saccule and utricle, and a complete loss of the horizontal semicircular canal crista, as well as a fusion of the utricle and saccule endolymphatic spaces into a common utriculosaccular cavity. Moreover, most females have a reproductive defect: females can be fertilized and their embryos undergo normal preimplantation development, but the embryos fail to implant successfully in the uterus and subsequently die. Mice lacking both Hmx2 and Hmx3 show a complete loss of balance, postnatal dwarfism, defects in neuroendocrine system, disturbed hypothalamic-pituitary axis and subsequent die. Defects caused in mice lacking both Hmx2 and Hmx3 can be rescued by expressing the Drosophila Hmx protein.
Features
Showing features for mutagenesis.
Type | ID | Position(s) | Description | ||
---|---|---|---|---|---|
Mutagenesis | 276 | Abolishes DNA-binding. | |||
Variants
We now provide the "Disease & Variants" viewer in its own tab.
The viewer provides 3 variants from UniProt as well as other sources including ClinVar and dbSNP.
PTM/Processing
Features
Showing features for chain, modified residue.
Type | ID | Position(s) | Description | ||
---|---|---|---|---|---|
Chain | PRO_0000048949 | 1-356 | Homeobox protein HMX3 | ||
Modified residue | 153 | Phosphoserine | |||
Modified residue | 180 | Phosphoserine | |||
Keywords
- PTM
Proteomic databases
PTM databases
Expression
Tissue specificity
Expressed in the developing CNS, including a specific expression in vestibular structures throughout inner ear development.
Induction
Regulated by Six1 and FGFs in inner ear.
Developmental stage
Begins at embryonic day 10.5 in the developing ear, hypothalamus, the neural tube and dorsal root ganglia. It continues to be active throughout prenatal life in discrete regions of the brain with an anterior border in the ventral diencephalon at the optic chiasma and expression domains in mesencephalon, metencephalon, and myelencephalon. At midgestation, it is also expressed in mesenchyme of the head and branchial arches, and in some cranial ganglia, as well as in derivatives of neural crest, such as the truncus sympathicus and myenteric ganglia. In inner ear, it is expressed between 13.5 dpc and birth in non-sensory epithelium of the semicircular canals, utricle and saccule. Also expressed in the cochlea, where the expression is restricted to the stria vascularis.
Gene expression databases
Structure
Family & Domains
Features
Showing features for compositional bias, region.
Type | ID | Position(s) | Description | ||
---|---|---|---|---|---|
Compositional bias | 1-28 | Pro residues | |||
Region | 1-57 | Disordered | |||
Region | 129-229 | Disordered | |||
Compositional bias | 154-190 | Basic and acidic residues | |||
Sequence similarities
Belongs to the HMX homeobox family.
Keywords
- Domain
Phylogenomic databases
Family and domain databases
Sequence
- Sequence statusComplete
- Length356
- Mass (Da)37,859
- Last updated2011-07-27 v3
- MD5 Checksum8A7B231B77218E6F7F4BBA70895E78F7
Sequence caution
Features
Showing features for compositional bias, sequence conflict.
Type | ID | Position(s) | Description | ||
---|---|---|---|---|---|
Compositional bias | 1-28 | Pro residues | |||
Sequence conflict | 68 | in Ref. 2; CAA08911 | |||
Compositional bias | 154-190 | Basic and acidic residues | |||
Keywords
- Technical term
Sequence databases
Nucleotide Sequence | Protein Sequence | Molecule Type | Status | |
---|---|---|---|---|
X75330 EMBL· GenBank· DDBJ | CAA53079.1 EMBL· GenBank· DDBJ | mRNA | Sequence problems. | |
AJ009935 EMBL· GenBank· DDBJ | CAA08911.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
CH466531 EMBL· GenBank· DDBJ | EDL17717.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
BC139482 EMBL· GenBank· DDBJ | AAI39483.1 EMBL· GenBank· DDBJ | mRNA | ||
BC139483 EMBL· GenBank· DDBJ | AAI39484.1 EMBL· GenBank· DDBJ | mRNA |