Statements (50)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:alternativeSplicing |
true
|
| gptkbp:associatedWith |
neurodevelopmental disorder with or without variable brain abnormalities (NEDBA) (OMIM: 618147)
cerebellar ataxia, non-progressive, with mental retardation (OMIM: 614756) |
| gptkbp:conservedIn |
vertebrates
|
| gptkbp:discoveredBy |
Bouche N et al.
|
| gptkbp:discoveredIn |
2002
|
| gptkbp:domain |
ankyrin repeats
IQ motif calmodulin-binding domain CG-1 DNA-binding domain |
| gptkbp:encodes |
CAMTA1 protein
|
| gptkbp:Entrez_Gene_ID |
23261
ENSG00000171735 |
| gptkbp:expressedIn |
gptkb:skeletal_muscle
brain heart |
| gptkbp:fullName |
calmodulin binding transcription activator 1
|
| gptkbp:function |
neuronal development
transcriptional regulation |
| gptkbp:hasClinicalTest |
genetic sequencing
|
| gptkbp:hasPathogenicVariant |
missense mutation
nonsense mutation frameshift mutation |
| gptkbp:hasPseudogene |
CAMTA1P1
|
| gptkbp:hasTranscriptVariant |
CAMTA1-201
CAMTA1-202 CAMTA1-203 |
| gptkbp:HGNC_ID |
HGNC:23398
|
| https://www.w3.org/2000/01/rdf-schema#label |
CAMTA1
|
| gptkbp:interactsWith |
gptkb:calmodulin
|
| gptkbp:isProteinCoding |
true
|
| gptkbp:locatedOnChromosome |
1p36.31
|
| gptkbp:MIMGeneID |
606491
|
| gptkbp:mutationAssociatedWith |
intellectual disability
ataxia |
| gptkbp:OMIM |
606491
|
| gptkbp:organism |
gptkb:Homo_sapiens
|
| gptkbp:orthologInMouse |
Camta1
|
| gptkbp:orthologInZebrafish |
camta1a
camta1b |
| gptkbp:RefSeq |
NM_015215
|
| gptkbp:regulates |
gene expression in response to calcium signaling
|
| gptkbp:reviewedBy |
gptkb:GeneReviews
gptkb:OMIM gptkb:UniProt |
| gptkbp:target |
microRNA regulation
|
| gptkbp:UniProtID |
Q9Y6Y1
|
| gptkbp:bfsParent |
gptkb:1p36_region
|
| gptkbp:bfsLayer |
7
|