InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: CAMTA1

Summary

InnateDB Protein

IDBP-88170.6

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

ENSP00000306522

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
GO:0005515	protein 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

IPR000048 IQ motif, EF-hand binding site
IPR002110 Ankyrin repeat
IPR002909 IPT domain
IPR005559 CG-1 DNA-binding domain
IPR014756 Immunoglobulin E-set
IPR020683 Ankyrin repeat-containing domain
IPR027417 P-loop containing nucleoside triphosphate hydrolase

PFAM