ORC1 Chromosome 1

Origin recognition complex subunit 1
52 variants 52 Health Risk

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What This Gene Does
The origin recognition complex (ORC) is a highly conserved six subunits protein complex essential for the initiation of the DNA replication in eukaryotic cells. Studies in yeast demonstrated that ORC binds specifically to origins of replication and serves as a platform for the assembly of additional initiation factors such as Cdc6 and Mcm proteins. The protein encoded by this gene is the largest subunit of the ORC complex. While other ORC subunits are stable throughout the cell cycle, the levels of this protein vary during the cell cycle, which has been shown to be controlled by ubiquitin-mediated proteolysis after initiation of DNA replication. This protein is found to be selectively phosphorylated during mitosis. It is also reported to interact with MYST histone acetyltransferase 2 (MyST2/HBO1), a protein involved in control of transcription silencing. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2010]
Gene Info
Gene Group
"AAA ATPases|Origin recognition complex"
Locus Type
gene with protein product
Location
1p32.3
Ensembl
ENSG00000085840
Associated Conditions (4)
Meier-Gorlin syndrome 1
Inborn genetic diseases
ORC1-related disorder
Meier-Gorlin syndrome
Key Variants
All Variants (52)
RSID Category Clinical Significance Conditions
RS143141689 Health Risk Pathogenic/Likely pathogenic Meier-Gorlin syndrome 1, Meier-Gorlin syndrome, ORC1-related disorder
RS367611068 Health Risk Pathogenic/Likely pathogenic Meier-Gorlin syndrome 1, Meier-Gorlin syndrome 1
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