ORC5 (Origin Recognition Complex Subunit 5)
Essential component of the DNA replication origin recognition complex
Gene Information Card
| Symbol | ORC5 |
|---|---|
| Full Name | Origin Recognition Complex Subunit 5 |
| Gene Type | Protein coding |
| Chromosomal Location | 7q22.1 |
| NCBI Gene ID | 5001 ncbi.nlm.nih.gov/gene/5001 |
| Ensembl ID | ENSG00000164815 |
| UniProt ID | O43913 |
| OMIM ID | 602331 |
| HGNC ID | 8491 |
| Aliases | ORC5L, ORC5P, ORC5T, PPP1R117 |
Description
The ORC5 gene encodes subunit 5 of the origin recognition complex (ORC), a multi-protein complex that binds to origins of replication and is essential for the initiation of DNA replication in eukaryotic cells. ORC5 is a core component of the complex and is involved in ATP binding and complex stability.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Meier-Gorlin syndrome 5 | Loss-of-function mutations in ORC5 impair ORC complex assembly, leading to reduced DNA replication licensing and cell proliferation, resulting in primordial dwarfism and characteristic craniofacial features. | ClinVar, OMIM |
| Breast cancer | Somatic mutations and altered expression of ORC5 have been reported in breast cancer, potentially affecting replication origin firing and genomic stability. | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Bone marrow | 8.2 | Medium |
| Lymph node | 7.1 | Medium |
| Brain | 5.3 | Low |
| Liver | 4.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 10.1 | Embryonic kidney cell line |
| HeLa | 8.5 | Cervical cancer cell line |
| K562 | 7.3 | Leukemia cell line |
| HepG2 | 6.0 | Hepatocellular carcinoma cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.442C>T (p.Arg148*) | Nonsense | Rare | Loss of function; associated with Meier-Gorlin syndrome |
| c.1A>G (p.Met1?) | Start loss | Rare | Loss of function; associated with Meier-Gorlin syndrome |
| c.1135G>A (p.Glu379Lys) | Missense | Unknown | Potential impact on ORC complex stability |
Mutation functional classification
Loss of Function (LOF)
Nonsense and start-loss mutations in ORC5 lead to truncated or absent protein, impairing ORC complex assembly and DNA replication licensing.
Gain of Function (GOF)
No gain-of-function mutations have been reported for ORC5.
Dominant Negative (DN)
No dominant-negative mutations have been characterized for ORC5.
View complete mutation data：
Gene Ontology (GO)
| • DNA replication origin binding | • ATP binding |
| • origin recognition complex | • nucleus |
| • protein binding |
Pathways
• DNA replication
• Cell cycle
• ORC complex assembly
Protein Summary
ORC5 is a 435-amino acid protein that forms part of the six-subunit origin recognition complex. It contains an AAA+ ATPase domain and is essential for ATP-dependent ORC complex assembly and DNA binding. The protein localizes to the nucleus and is required for the initiation of DNA replication.
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