ORC1 Chromosome 1
Origin recognition complex subunit 1
Upload your DNA to see your personal genotypes for variants in ORC1.
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
RS139027440
Conflicting classifications of pathogenicity
Meier-Gorlin syndrome 1, Inborn genetic diseases, ORC1-related disorder
Health Risk
RS140536267
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS141066689
Conflicting classifications of pathogenicity
Meier-Gorlin syndrome 1, Meier-Gorlin syndrome 1
Health Risk
RS142127656
Conflicting classifications of pathogenicity
Meier-Gorlin syndrome 1, Meier-Gorlin syndrome 1
Health Risk
RS144848215
Conflicting classifications of pathogenicity
Meier-Gorlin syndrome 1, Inborn genetic diseases, Meier-Gorlin syndrome 1
Health Risk
RS146844078
Conflicting classifications of pathogenicity
Meier-Gorlin syndrome 1, ORC1-related disorder, Meier-Gorlin syndrome 1
Health Risk
RS150059660
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS182707743
Conflicting classifications of pathogenicity
Meier-Gorlin syndrome 1, Meier-Gorlin syndrome 1
Health Risk
RS192392819
Conflicting classifications of pathogenicity
Health Risk
RS199834691
Conflicting classifications of pathogenicity
Meier-Gorlin syndrome 1, Meier-Gorlin syndrome 1
Health Risk
RS200422610
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS201253919
Conflicting classifications of pathogenicity
Meier-Gorlin syndrome 1, Meier-Gorlin syndrome 1
Health Risk
All Variants (52)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS139027440 | Health Risk | Conflicting classifications of pathogenicity | Meier-Gorlin syndrome 1, Inborn genetic diseases, ORC1-related disorder |
| RS140536267 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS141066689 | Health Risk | Conflicting classifications of pathogenicity | Meier-Gorlin syndrome 1, Meier-Gorlin syndrome 1 |
| RS142127656 | Health Risk | Conflicting classifications of pathogenicity | Meier-Gorlin syndrome 1, Meier-Gorlin syndrome 1 |
| RS144848215 | Health Risk | Conflicting classifications of pathogenicity | Meier-Gorlin syndrome 1, Inborn genetic diseases, Meier-Gorlin syndrome 1 |
| RS146844078 | Health Risk | Conflicting classifications of pathogenicity | Meier-Gorlin syndrome 1, ORC1-related disorder, Meier-Gorlin syndrome 1 |
| RS150059660 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS182707743 | Health Risk | Conflicting classifications of pathogenicity | Meier-Gorlin syndrome 1, Meier-Gorlin syndrome 1 |
| RS192392819 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS199834691 | Health Risk | Conflicting classifications of pathogenicity | Meier-Gorlin syndrome 1, Meier-Gorlin syndrome 1 |
| RS200422610 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS201253919 | Health Risk | Conflicting classifications of pathogenicity | Meier-Gorlin syndrome 1, Meier-Gorlin syndrome 1 |
| RS202095223 | Health Risk | Conflicting classifications of pathogenicity | Meier-Gorlin syndrome 1, Meier-Gorlin syndrome 1 |
| RS376619175 | Health Risk | Conflicting classifications of pathogenicity | Meier-Gorlin syndrome 1, Meier-Gorlin syndrome 1 |
| RS387906827 | Health Risk | Conflicting classifications of pathogenicity | Meier-Gorlin syndrome 1, ORC1-related disorder, Meier-Gorlin syndrome 1 |
| RS527750995 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS61756136 | Health Risk | Conflicting classifications of pathogenicity | Meier-Gorlin syndrome 1, ORC1-related disorder, Meier-Gorlin syndrome 1 |
| RS61756137 | Health Risk | Conflicting classifications of pathogenicity | Meier-Gorlin syndrome 1, Meier-Gorlin syndrome 1 |
| RS61756139 | Health Risk | Conflicting classifications of pathogenicity | Meier-Gorlin syndrome 1, ORC1-related disorder, Meier-Gorlin syndrome 1 |
| RS748117291 | Health Risk | Conflicting classifications of pathogenicity | Meier-Gorlin syndrome 1, Meier-Gorlin syndrome 1 |
| RS754999613 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS755000631 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS760741211 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS764971476 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS886046400 | Health Risk | Conflicting classifications of pathogenicity | Meier-Gorlin syndrome 1, Meier-Gorlin syndrome 1 |
| RS946676889 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1362231446 | Health Risk | Likely pathogenic | — |
| RS1647138135 | Health Risk | Likely pathogenic | — |
| RS2524086364 | Health Risk | Likely pathogenic | — |
| RS2524163534 | Health Risk | Likely pathogenic | Meier-Gorlin syndrome 1, Meier-Gorlin syndrome 1 |
| RS387906828 | Health Risk | Likely pathogenic | Meier-Gorlin syndrome 1, Meier-Gorlin syndrome 1 |
| RS778980446 | Health Risk | Likely pathogenic | Meier-Gorlin syndrome 1, Meier-Gorlin syndrome 1 |
| RS869312957 | Health Risk | Likely pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS869312969 | Health Risk | Likely pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS935928788 | Health Risk | Likely pathogenic | — |
| RS1162770123 | Health Risk | Pathogenic | Meier-Gorlin syndrome 1, Meier-Gorlin syndrome 1 |
| RS1235656718 | Health Risk | Pathogenic | — |
| RS1308076642 | Health Risk | Pathogenic | — |
| RS1378348220 | Health Risk | Pathogenic | Meier-Gorlin syndrome 1, Meier-Gorlin syndrome 1 |
| RS1457373378 | Health Risk | Pathogenic | — |
| RS1557567563 | Health Risk | Pathogenic | — |
| RS1557573504 | Health Risk | Pathogenic | Meier-Gorlin syndrome 1, Meier-Gorlin syndrome 1 |
| RS1647490038 | Health Risk | Pathogenic | Meier-Gorlin syndrome 1, Meier-Gorlin syndrome 1 |
| RS2147923128 | Health Risk | Pathogenic | Meier-Gorlin syndrome 1, Meier-Gorlin syndrome 1 |
| RS2147941262 | Health Risk | Pathogenic | Meier-Gorlin syndrome 1, Meier-Gorlin syndrome 1 |
| RS2147942943 | Health Risk | Pathogenic | — |
| RS2524163346 | Health Risk | Pathogenic | — |
| RS373671398 | Health Risk | Pathogenic | Meier-Gorlin syndrome 1, Meier-Gorlin syndrome 1 |
| RS387906826 | Health Risk | Pathogenic | Meier-Gorlin syndrome 1, Meier-Gorlin syndrome 1 |
| RS778297628 | Health Risk | Pathogenic | — |