COP1
Homo sapiens
Gene Name: COP1 E3 ubiquitin ligase
Aliases: RFWD2, RNF200
Chromosome No: 1
Chromosome Band: 1q25.1-q25.2
Genetic Category: Genetic Association-Rare single gene variant
Aliases: RFWD2, RNF200
Chromosome No: 1
Chromosome Band: 1q25.1-q25.2
Genetic Category: Genetic Association-Rare single gene variant
Summary Statistics:
ASD Reports: 10
Recent Reports: 3
Annotated variants: 3
Associated CNVs: 9
Evidence score: 2
ASD Reports: 10
Recent Reports: 3
Annotated variants: 3
Associated CNVs: 9
Evidence score: 2
| Associated Disorders: |
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Relevance to Autism
In a genome-wide study, association was found between CNVs in the COP1 gene (formerly known as the RFWD2 gene) and autism in AGRE and ACC cohorts (European ancestry) (Glessner et al., 2009).
Molecular Function
E3 ubiquitin-protein ligase that mediates ubiquitination and subsequent proteasomal degradation of target proteins.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Autism genome-wide copy number variation reveals ubiquitin and neuronal genes.
ASD
Support
Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism
ASD
Support
The contribution of de novo coding mutations to autism spectrum disorder
ASD
Highly Cited
Direct interaction of Arabidopsis cryptochromes with COP1 in light control development.
Highly Cited
Molecular interaction between COP1 and HY5 defines a regulatory switch for light control of Arabidopsis development.
Highly Cited
Light inactivation of Arabidopsis photomorphogenic repressor COP1 involves a cell-specific regulation of its nucleocytoplasmic partitioning.
Highly Cited
COP1, an Arabidopsis regulatory gene, encodes a protein with both a zinc-binding motif and a G beta homologous domain.
Recent Recommendation
Interaction of COP1 and UVR8 regulates UV-B-induced photomorphogenesis and stress acclimation in Arabidopsis.
Recent Recommendation
COP1 and ELF3 control circadian function and photoperiodic flowering by regulating GI stability.
Recent Recommendation
COP1 functions as a FoxO1 ubiquitin E3 ligase to regulate FoxO1-mediated gene expression.