ORC1
Origin Recognition Complex Subunit 1
Gene Information Card
| Symbol | ORC1 |
|---|---|
| Full Name | Origin Recognition Complex Subunit 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 1p32.3 |
| NCBI Gene ID | 4998 ncbi.nlm.nih.gov/gene/4998 |
| Ensembl ID | ENSG00000116514 |
| UniProt ID | Q13415 |
| OMIM ID | 601902 |
| HGNC ID | 8487 |
| Aliases | ORC1L, PARC1 |
Description
ORC1 encodes the largest subunit of the origin recognition complex (ORC), which is essential for initiating DNA replication in eukaryotic cells. ORC1 binds to origins of replication and recruits other replication factors. Mutations in ORC1 are associated with Meier-Gorlin syndrome, a disorder characterized by microcephaly, short stature, and skeletal abnormalities.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Meier-Gorlin syndrome 1 | Loss-of-function mutations impair ORC1 binding to origins, reducing replication licensing and cell proliferation | ClinVar, OMIM |
| Primordial dwarfism | Defective ORC1 disrupts cell cycle progression, leading to growth retardation | OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Bone marrow | 8.2 | Medium |
| Lymph node | 6.1 | Low |
| Brain | 4.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 10.1 | Cervical cancer cell line |
| K562 | 7.8 | Leukemia cell line |
| HEK293 | 6.5 | Embryonic kidney cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | Rare | Loss of start codon, likely loss of function |
| c.871C>T (p.Arg291Trp) | Missense | Rare | Impaired DNA binding |
| c.1462C>T (p.Arg488*) | Nonsense | Rare | Premature truncation, loss of function |
Mutation functional classification
Loss of Function (LOF)
Most ORC1 mutations are loss-of-function, reducing replication licensing and causing Meier-Gorlin syndrome.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
Not observed; ORC1 mutations are typically recessive.
View complete mutation data：
Gene Ontology (GO)
| • DNA replication origin binding | • DNA replication initiation |
| • origin recognition complex | • nucleus |
| • chromatin binding |
Pathways
• DNA replication (Reactome: R-HSA-69306)
• Cell cycle (KEGG: hsa04110)
Protein Summary
ORC1 is a 861-amino acid protein that forms part of the six-subunit origin recognition complex. It contains a AAA+ ATPase domain and a BAH domain, which mediate ATP-dependent origin binding and chromatin interaction. ORC1 is cell-cycle regulated, being degraded in S phase to prevent re-replication.
Related Services
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