Entity Details
| Primary name |
CMTA1_HUMAN |
| Entity type |
UniProt |
| Source |
Source Link |
Details
| Accession | Q9Y6Y1 |
| EntryName | CMTA1_HUMAN |
| FullName | Calmodulin-binding transcription activator 1 |
| TaxID | 9606 |
| Evidence | evidence at protein level |
| Length | 1673 |
| SequenceStatus | complete |
| DateCreated | 2006-05-16 |
| DateModified | 2021-06-02 |
Subcellular Location
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| Subcellular Location |
| Cytoplasm |
| Nucleus |
Domains
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| Domain | Name | Category | Type |
| IPR000048 | IQ motif, EF-hand binding site | Site | Binding site |
| IPR002110 | Ankyrin repeat | Repeat | Repeat |
| IPR002909 | IPT domain | Domain | Domain |
| IPR005559 | CG-1 DNA-binding domain | Domain | Domain |
| IPR013783 | Immunoglobulin-like fold | Family | Homologous superfamily |
| IPR014756 | Immunoglobulin E-set | Family | Homologous superfamily |
| IPR020683 | Ankyrin repeat-containing domain | Domain | Domain |
| IPR027417 | P-loop containing nucleoside triphosphate hydrolase | Family | Homologous superfamily |
| IPR036770 | Ankyrin repeat-containing domain superfamily | Family | Homologous superfamily |
| IPR039033 | Calmodulin-binding transcription activator 1 | Family | Family |
Diseases
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| Disease ID | Source | Name | Description |
| 614756 | OMIM | Cerebellar ataxia, non-progressive, with mental retardation (CANPMR) | A neurodevelopmental disorder characterized by mildly delayed psychomotor development, early onset of cerebellar ataxia, and intellectual disability later in childhood and adult life. Other features may include neonatal hypotonia, dysarthria, and dysmetria. Brain imaging in some patients shows cerebellar atrophy. Dysmorphic facial features are variable. The disease is caused by variants affecting the gene represented in this entry. |
Interactions
0 interactions
| Interactor | Partner | Sources | Publications | Link |