Q8N100 · ATOH7_HUMAN
- ProteinTranscription factor ATOH7
- GeneATOH7
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids152 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
Function
function
Transcription factor that binds to DNA at the consensus sequence 5'-CAG[GC]TG-3' (PubMed:31696227).
Dimerization with TCF3 isoform E47 may be required in certain situations (PubMed:31696227).
Binds to gene promoters and enhancer elements, and thereby regulates a transcriptional program of retinal ganglion cell (RGC) determinant genes (By similarity).
Although the exact mechanism is not certain, retinal transcription regulation by ATOH7 has a role in RGC determination and survival, photoreceptor population development, targeting of RGC axons to the optic nerve and development of the retino-hypothalamic tract (By similarity).
Binds to its own promoter and enhancer sequences, suggesting autoregulation of ATOH7 transcription (By similarity).
Required for retinal circadian rhythm photoentrainment (By similarity).
Plays a role in brainstem auditory signaling and binaural processing (By similarity).
Dimerization with TCF3 isoform E47 may be required in certain situations (PubMed:31696227).
Binds to gene promoters and enhancer elements, and thereby regulates a transcriptional program of retinal ganglion cell (RGC) determinant genes (By similarity).
Although the exact mechanism is not certain, retinal transcription regulation by ATOH7 has a role in RGC determination and survival, photoreceptor population development, targeting of RGC axons to the optic nerve and development of the retino-hypothalamic tract (By similarity).
Binds to its own promoter and enhancer sequences, suggesting autoregulation of ATOH7 transcription (By similarity).
Required for retinal circadian rhythm photoentrainment (By similarity).
Plays a role in brainstem auditory signaling and binaural processing (By similarity).
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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Keywords
- Molecular function
- Biological process
Enzyme and pathway databases
Names & Taxonomy
Protein names
- Recommended nameTranscription factor ATOH7
- Alternative names
Gene names
Organism names
- Organism
- Taxonomic lineageEukaryota > Metazoa > Chordata > Craniata > Vertebrata > Euteleostomi > Mammalia > Eutheria > Euarchontoglires > Primates > Haplorrhini > Catarrhini > Hominidae > Homo
Accessions
- Primary accessionQ8N100
Proteomes
Organism-specific databases
Subcellular Location
Disease & Variants
Involvement in disease
Persistent hyperplastic primary vitreous, autosomal recessive (PHPVAR)
- Note
- DescriptionA developmental eye malformation associated with microphthalmia, cataract, glaucoma, and congenital retinal non-attachment. It is due to failure of the primary vitreous to regress in utero, resulting in the presence of a retrolental fibrovascular membrane with persistence of the posterior portion of the tunica vasculosa lentis and hyaloid artery. Disease manifestations range from a trivial remnant of hyaloid vessels to a dense fibrovascular mass causing lens opacity and retinal detachment.
- See alsoMIM:221900
Natural variants in PHPVAR
Variant ID | Position(s) | Change | Description | |
---|---|---|---|---|
VAR_085727 | 41-48 | missing | in PHPVAR; uncertain significance; dbSNP:rs560230254 | |
VAR_085728 | 42 | R>P | in PHPVAR; uncertain significance | |
VAR_072398 | 46 | N>H | in PHPVAR; loss of function; polypeptide is stable, but does not bind DNA or activate transcription; does not restore retinal ganglion cell development in retinal explants from a mouse Atoh7 null mutant; abolishes heterodimerization with TCF3 E47 isoform; reduces DNA-binding ability and abolishes transcriptional activation; no effect on nuclear localization; dbSNP:rs587777666 | |
VAR_072400 | 49 | E>V | in PHPVAR; dbSNP:rs587777664 | |
VAR_085731 | 134-152 | missing | in PHPVAR; uncertain significance |
Features
Showing features for natural variant, mutagenesis.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Natural variant | VAR_085727 | 41-48 | in PHPVAR; uncertain significance; dbSNP:rs560230254 | |||
Sequence: Missing | ||||||
Natural variant | VAR_085728 | 42 | in PHPVAR; uncertain significance | |||
Sequence: R → P | ||||||
Natural variant | VAR_072398 | 46 | in PHPVAR; loss of function; polypeptide is stable, but does not bind DNA or activate transcription; does not restore retinal ganglion cell development in retinal explants from a mouse Atoh7 null mutant; abolishes heterodimerization with TCF3 E47 isoform; reduces DNA-binding ability and abolishes transcriptional activation; no effect on nuclear localization; dbSNP:rs587777666 | |||
Sequence: N → H | ||||||
Natural variant | VAR_072399 | 47 | found in a sporadic case of optic nerve hypoplasia; uncertain significance; does not affect DNA-binding activity but reduces transcription activation | |||
Sequence: A → T | ||||||
Natural variant | VAR_072400 | 49 | in PHPVAR; dbSNP:rs587777664 | |||
Sequence: E → V | ||||||
Mutagenesis | 56 | Loss of DNA-binding activity; loss of ability to restore retinal ganglion cell development in retinal explants from a mouse Atoh7 null mutant. | ||||
Sequence: L → P | ||||||
Natural variant | VAR_085729 | 59 | found in patients with bilateral optic nerve hypoplasia; uncertain significance; abolishes heterodimerization with TCF3 E47 isoform; reduces DNA-binding ability and abolishes transcriptional activation; no effect on nuclear localization; dbSNP:rs138274069 | |||
Sequence: A → T | ||||||
Natural variant | VAR_085730 | 59 | found in patients with bilateral optic nerve hypoplasia; uncertain significance; abolishes heterodimerization with TCF3 E47 isoform; reduces DNA-binding ability and abolishes transcriptional activation; no effect on nuclear localization; dbSNP:rs754494518 | |||
Sequence: A → V | ||||||
Mutagenesis | 59 | Abolishes heterodimerization with TCF3 isoform E47; no effect on nuclear localization. | ||||
Sequence: A → G | ||||||
Natural variant | VAR_072401 | 65 | does not affect DNA-binding activity or transcription activation; dbSNP:rs111699024 | |||
Sequence: R → G | ||||||
Natural variant | VAR_085731 | 134-152 | in PHPVAR; uncertain significance | |||
Sequence: Missing |
Variants
We now provide the "Disease & Variants" viewer in its own tab.
The viewer provides 241 variants from UniProt as well as other sources including ClinVar and dbSNP.
Keywords
- Disease
Organism-specific databases
Miscellaneous
Genetic variation databases
PTM/Processing
Features
Showing features for chain.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Chain | PRO_0000292406 | 1-152 | Transcription factor ATOH7 | |||
Sequence: MKSCKPSGPPAGARVAPPCAGGTECAGTCAGAGRLESAARRRLAANARERRRMQGLNTAFDRLRRVVPQWGQDKKLSKYETLQMALSYIMALTRILAEAERFGSERDWVGLHCEHFGRDHYLPFPGAKLPGESELYSQRLFGFQPEPFQMAT |
Proteomic databases
PTM databases
Expression
Interaction
Subunit
Forms a heterodimer with TCF3 isoform E47; interaction may be required for DNA-binding in certain situations.
Binary interactions
Type | Entry 1 | Entry 2 | Number of experiments | Intact | |
---|---|---|---|---|---|
BINARY | Q8N100 | TCF4 P15884-3 | 3 | EBI-11976887, EBI-13636688 |
Protein-protein interaction databases
Miscellaneous
Structure
Family & Domains
Features
Showing features for domain.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Domain | 40-92 | bHLH | ||||
Sequence: RRRLAANARERRRMQGLNTAFDRLRRVVPQWGQDKKLSKYETLQMALSYIMAL |
Phylogenomic databases
Family and domain databases
Sequence
- Sequence statusComplete
- Length152
- Mass (Da)16,871
- Last updated2002-10-01 v1
- Checksum9E93E9E60E1697C5
Keywords
- Technical term
Sequence databases
Nucleotide Sequence | Protein Sequence | Molecule Type | Status | |
---|---|---|---|---|
AF418922 EMBL· GenBank· DDBJ | AAL11911.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
BC032621 EMBL· GenBank· DDBJ | AAH32621.1 EMBL· GenBank· DDBJ | mRNA | ||
BK000277 EMBL· GenBank· DDBJ | DAA01057.1 EMBL· GenBank· DDBJ | mRNA |