InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: CC2D1A

Summary

InnateDB Protein

IDBP-32460.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

CC2D1A

Protein Name

coiled-coil and C2 domain containing 1A

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000313601

InnateDB Gene

IDBG-32458 (CC2D1A)

Protein Structure

UniProt Annotation

Function

Transcription factor that binds specifically to the DRE (dual repressor element) and represses HTR1A gene transcription in neuronal cells. The combination of calcium and ATP specifically inactivates the binding with FRE. May play a role in the altered regulation of HTR1A associated with anxiety and major depression. Mediates HDAC-independent repression of HTR1A promoter in neuronal cell. Performs essential function in controlling functional maturation of synapses (By similarity). Plays distinct roles depending on its localization. When cytoplasmic, acts as a scaffold protein in the PI3K/PDK1/AKT pathway. Repressor of HTR1A when nuclear. In the centrosome, regulates spindle pole localization of the cohesin subunit SCC1/RAD21, thereby mediating centriole cohesion during mitosis. {ECO:0000250, ECO:0000269PubMed:20171170}.

Subcellular Localization

Cytoplasm. Nucleus. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome.

Disease Associations

Mental retardation, autosomal recessive 3 (MRT3) [MIM:608443]: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. Non-syndromic mental retardation patients do not manifest other clinical signs. {ECO:0000269PubMed:16033914}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 13 experimentally validated interaction(s) in this database.

Experimentally validated
Total	13 [view]
Protein-Protein	13 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0000978	RNA polymerase II core promoter proximal region sequence-specific DNA binding
GO:0001078	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription
GO:0004871	signal transducer activity
GO:0005515	protein binding

Biological Process

GO:0000122	negative regulation of transcription from RNA polymerase II promoter
GO:0006351	transcription, DNA-templated
GO:0007165	signal transduction
GO:0043123	positive regulation of I-kappaB kinase/NF-kappaB signaling