Gene: ORC1
Alternate names for this Gene: HSORC1|ORC1L|PARC1
Gene Summary: 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.
Gene is located in Chromosome: 1
Location in Chromosome : 1p32.3
Description of this Gene: origin recognition complex subunit 1
Type of Gene: protein-coding
rs143141689 in
ORC1 gene and
EAR, PATELLA, SHORT STATURE SYNDROME
PMID 23516378 2013 Deficiency in origin licensing proteins impairs cilia formation: implications for the aetiology of Meier-Gorlin syndrome.
PMID 25689043 2015 Recent studies have identified several genetic mutations within the BAH domain of human Origin Recognition Complex subunit 1 (hORC1BAH), including the R105Q mutation, implicated in Meier-Gorlin Syndrome (MGS).
PMID 22855792 2012 Meier-Gorlin syndrome mutations disrupt an Orc1 CDK inhibitory domain and cause centrosome reduplication.
PMID 22333897 2012 Meier-Gorlin syndrome genotype-phenotype studies: 35 individuals with pre-replication complex gene mutations and 10 without molecular diagnosis.
PMID 21358633 2011 Mutations in ORC1, encoding the largest subunit of the origin recognition complex, cause microcephalic primordial dwarfism resembling Meier-Gorlin syndrome.
rs143141689 in
ORC1 gene and
MEIER-GORLIN SYNDROME 1
PMID 25689043 2015 A Meier-Gorlin syndrome mutation impairs the ORC1-nucleosome association.
PMID 21358631 2011 Mutations in origin recognition complex gene ORC4 cause Meier-Gorlin syndrome.
PMID 21358632 2011 Mutations in the pre-replication complex cause Meier-Gorlin syndrome.
PMID 21358633 2011 Mutations in ORC1, encoding the largest subunit of the origin recognition complex, cause microcephalic primordial dwarfism resembling Meier-Gorlin syndrome.
PMID 22855792 2012 Meier-Gorlin syndrome mutations disrupt an Orc1 CDK inhibitory domain and cause centrosome reduplication.
PMID 23023959 2012 Meier-Gorlin syndrome: growth and secondary sexual development of a microcephalic primordial dwarfism disorder.