gopubmed logo
find other proteinsAll proteins
GoPubMed Proteins lists recent and important papers and reviews for proteins. Page last changed on 19 Aug 2016.

Coiled-coil and C2 domain containing 1A

CC2D1A, Freud-1, Akt kinase-interacting protein 1
This gene encodes a transcriptional repressor that binds to a conserved 14-bp 5'-repressor element and regulates expression of the 5-hydroxytryptamine (serotonin) receptor 1A gene in neuronal cells. The DNA binding and transcriptional repressor activities of the protein are inhibited by calcium. A mutation in this gene results in nonsyndromic mental retardation-3.[provided by RefSeq, Oct 2009] (from NCBI)
Top mentioned proteins: 5-HT1A, CC2D1B, CAN, Properdin, Akt
Papers on CC2D1A
The roles of CC2D1A and HTR1A gene expressions in autism spectrum disorders.
Ozkul et al., Kayseri, Turkey. In Metab Brain Dis, Feb 2016
CC2D1A gene has been linked to mental retardation (MR) in a family with a large deletion before.
The Mammalian Orthologs of Drosophila Lgd, CC2D1A and CC2D1B, Function in the Endocytic Pathway, but Their Individual Loss of Function Does Not Affect Notch Signalling.
Klein et al., Düsseldorf, Germany. In Plos Genet, Dec 2015
CC2D1A and CC2D1B belong to the evolutionary conserved Lgd protein family with members in all multi-cellular animals.
Akt Kinase-Interacting Protein 1 Signals through CREB to Drive Diffuse Malignant Mesothelioma.
Carbone et al., Kanazawa, Japan. In Cancer Res, Nov 2015
Akt kinase interacting protein 1 (Aki1; Freud-1/CC2D1A) is a scaffold protein for the PI3K-PDK1-Akt signaling module that helps determine receptor signal selectivity for EGFR.
Stress-induced alterations in 5-HT1A receptor transcriptional modulators NUDR and Freud-1.
Albert et al., Kraków, Poland. In Int J Neuropsychopharmacol, 2014
The effect of stress on the mRNA and protein level of the 5-HT1A receptor and two of its key transcriptional modulators, NUDR and Freud-1, was examined in the prefrontal cortex (PFC) and hippocampus (Hp) using rodent models: olfactory bulbectomy (OB) and prenatal stress (PS) in male and female rats; chronic mild stress in male rats (CMS) and pregnancy stress.
Expression of Akt kinase-interacting protein 1, a scaffold protein of the PI3K/PDK1/Akt pathway, in pancreatic cancer.
Yano et al., Kanazawa, Japan. In Pancreas, 2014
OBJECTIVES: Akt kinase-interacting protein 1 (Aki1) has been reported to be a scaffold protein of the PI3K (phosphoinositide 3-kinase)/PDK1 (3-phosphoinositide-dependent protein kinase)/Akt pathway and to interact with epidermal growth factor receptor signaling.
Characterization of the human NEK7 interactome suggests catalytic and regulatory properties distinct from those of NEK6.
Kobarg et al., Campinas, Brazil. In J Proteome Res, 2014
Combining additional interaction and phosphorylation assays from yeast two-hybrid screens, we validated CC2D1A, TUBB2B, MNAT1, and NEK9 proteins as potential NEK7 interactors and substrates.
CC2D1A regulates human intellectual and social function as well as NF-κB signaling homeostasis.
Walsh et al., Boston, United States. In Cell Rep, 2014
Here, we present two autosomal-recessive "founder" mutations in the CC2D1A gene causing fully penetrant cognitive phenotypes, including mild-to-severe ID, ASD, as well as seizures, suggesting shared developmental mechanisms.
Computational analysis of TRAPPC9: candidate gene for autosomal recessive non-syndromic mental retardation.
Mir et al., Rāwalpindi, Pakistan. In Cns Neurol Disord Drug Targets, 2013
To date, a few genes (PRSS12, CRBN, CC2D1A, GRIK2, TUSC3, TRAPPC9, TECR, ST3GAL3, MED23, MAN1B1, NSUN1) for autosomal-recessive forms of non syndromic MR (NS-ARMR) have been identified and established in various families with ID.
Serotonin-prefrontal cortical circuitry in anxiety and depression phenotypes: pivotal role of pre- and post-synaptic 5-HT1A receptor expression.
Luckhart et al., Ottawa, Canada. In Front Behav Neurosci, 2013
We identify a set of conserved transcription factors including Deaf1, Freud-1/CC2D1A, Freud-2/CC2D1B and glucocorticoid receptors that may confer deleterious regional changes in 5-HT1A receptors in depression, and how future treatments could target these mechanisms.
A new case of de novo 19p13.2p13.12 deletion in a girl with overgrowth and severe developmental delay.
Sefiani et al., Rabat, Morocco. In Mol Cytogenet, 2013
The deletion includes seven OMIM genes: MAN2B1, RNASEH2A, KLF1, GCDH, NFIX, CACNA1A and CC2D1A.
Phosphodiesterase activity is regulated by CC2D1A that is implicated in non-syndromic intellectual disability.
Gehring et al., Houston, United States. In Cell Commun Signal, 2012
Further, the CC2D1A protein, consisting of N-Terminal containing four DM14 domains and C-terminal containing C2 domain, was shown to regulate the cAMP-PKA pathway.
CC2D1A is a regulator of ESCRT-III CHMP4B.
Weissenhorn et al., Grenoble, France. In J Mol Biol, 2012
CHMP4B interacts directly with CC2D1A and CC2D1B with nanomolar affinity by forming a 1:1 complex.
Regulation of CHMP4/ESCRT-III function in human immunodeficiency virus type 1 budding by CC2D1A.
Göttlinger et al., Worcester, United States. In J Virol, 2012
CC2D1A interaction with CHMP4B/4A blocks HIV-1 budding.
Positive association of CC2D1A and CC2D2A gene haplotypes with mental retardation in a Han Chinese population.
Zhang et al., Xi'an, China. In Dna Cell Biol, 2012
Results suggest the involvement of CC2D1A and CC2D2A in mental retardation in the Han Chinese population, and some specific haplotypes may be susceptible or protective.
Cc2d1a, a C2 domain containing protein linked to nonsyndromic mental retardation, controls functional maturation of central synapses.
Kavalali et al., Dallas, United States. In J Neurophysiol, 2011
Cc2d1a is required for mouse survival and performs essential function in controlling functional maturation of synapses.
Blocking NF-κB nuclear translocation leads to p53-related autophagy activation and cell apoptosis.
Qin et al., Suzhou, China. In World J Gastroenterol, 2011
Data suggest that the anti-tumor activity of NF-kappaB inhibitors is associated with p53-mediated activation of autophagy.
Transcriptional dysregulation of 5-HT1A autoreceptors in mental illness.
Millar et al., Ottawa, Canada. In Mol Brain, 2010
Extensive characterization of the transcriptional regulation of the 5-HT1A gene (HTR1A) using cell culture systems has revealed a GC-rich "housekeeping" promoter that non-selectively drives its expression; this is flanked by a series of upstream repressor elements for REST, Freud-1/CC2D1A and Freud-2/CC2D1B factors that not only restrict its expression to neurons, but may also regulate the level of expression of 5-HT1A receptors in various subsets of neurons, including serotonergic neurons.
The Freud-1/CC2D1A family: transcriptional regulators implicated in mental retardation.
Albert et al., Ottawa, Canada. In J Neurosci Res, 2007
a deletion in the CC2D1A gene has been linked to nonsyndromic mental retardation. This deletion results in the truncation of the helix-loop-helix DNA binding and the C2 domains.
The genetics of mental retardation.
Tarpey et al., Cambridge, United Kingdom. In Hum Mol Genet, 2006
Novel autosomal genes that cause mental retardation have been identified recently including CC2D1A identified by homozygosity mapping.
5-HT1A receptors, gene repression, and depression: guilt by association.
Lemonde et al., Ottawa, Canada. In Neuroscientist, 2004
Review of Freud-1 as a repressor of serotonin 1A receptor gene.
share on facebooktweetadd +1mail to friends