|
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
|
|
gptkbp:interactsWith
|
gptkb:calmodulin
|
|
gptkbp:isProteinCoding
|
true
|
|
gptkbp:locatedOnChromosome
|
1p36.31
|
|
gptkbp:MIMGeneID
|
606491
|
|
gptkbp:mutationAssociatedWith
|
gptkb: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
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
CAMTA1
|