Version 5.4
Homo sapiens Protein: CAMTA1
Summary
InnateDB Protein IDBP-593015.3
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol CAMTA1
Protein Name calmodulin binding transcription activator 1
Synonyms CANPMR;
Species Homo sapiens
Ensembl Protein ENSP00000451388
InnateDB Gene IDBG-88164 (CAMTA1)
Protein Structure
UniProt Annotation
Function Transcriptional activator. May act as a tumor suppressor. {ECO:0000269PubMed:11925432, ECO:0000269PubMed:15709179}.
Subcellular Localization Nucleus {ECO:0000305}. Cytoplasm.
Disease Associations Cerebellar ataxia, non-progressive, with mental retardation (CANPMR) [MIM:614756]: 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. {ECO:0000269PubMed:22693284}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Tissue Specificity Normally expressed in non-neoplastic adult central nervous system tissues: detected in whole brain, cerebellum, brain cortex, occipital lobe, frontal lobe, temporal lobe, putamen. Expression levels are low in oligodendroglial tumors, and are reduced by half in oligodendroglioma and astrocytoma cases with 1p loss of heterozygosity. Detected in neuroblastic-type cultured neuroblastoma cells. Expressed in heart and kidney. {ECO:0000269PubMed:11925432, ECO:0000269PubMed:15138581, ECO:0000269PubMed:15709179}.
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 2 experimentally validated interaction(s) in this database.
Experimentally validated
Total 2 [view]
Protein-Protein 2 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0003677 DNA binding
Biological Process
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
Cellular Component
GO:0005634 nucleus
GO:0005737 cytoplasm
Protein Structure and Domains
PDB ID
InterPro
PFAM
PRINTS
PIRSF
SMART
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q9Y6Y1
PhosphoSite PhosphoSite-Q9Y6Y1
TrEMBL H0YJV1
UniProt Splice Variant
Entrez Gene 23261
UniGene Hs.604945
RefSeq NP_001182492
HUGO HGNC:18806
OMIM 611501
CCDS CCDS55574
HPRD 16681
IMGT
EMBL AB020640 AF111804 AL157716 AL359881 AL365194 AL512330 AL590128 AL596210 AL683812 AY037153 AY349360 BC116457 BC151835 CD103791 CH471130 Z97635 Z97987 Z98052 Z98884
GenPept AAI16458 AAI51836 AAK67633 AAL39006 AAQ56724 BAA74856 CAH72347 CAH72663 CAI17064 CAI20961 CAI21433 CAI21596 CAI21790 EAW71580

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca