ORC6: Origin Recognition Complex Subunit 6
Essential component of the DNA replication origin recognition complex
Gene Information Card
| Symbol | ORC6 |
|---|---|
| Full Name | Origin recognition complex subunit 6 |
| Gene Type | Protein coding |
| Chromosomal Location | 16q11.2 |
| NCBI Gene ID | 23594 ncbi.nlm.nih.gov/gene/23594 |
| Ensembl ID | ENSG00000103168 |
| UniProt ID | Q9Y5N6 |
| OMIM ID | 607213 |
| HGNC ID | 17151 |
| Aliases | ORC6L, MGC138290 |
Description
ORC6 encodes subunit 6 of the origin recognition complex (ORC), a multi-subunit ATP-dependent complex essential for initiating DNA replication in eukaryotic cells. ORC binds to replication origins and serves as a platform for the assembly of the pre-replication complex. ORC6 is unique among ORC subunits as it is not required for ATP binding but is critical for chromatin association and cell cycle progression.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Meier-Gorlin syndrome 3 | Loss-of-function mutations in ORC6 impair origin recognition complex assembly, leading to reduced DNA replication licensing and cell proliferation, resulting in primordial dwarfism and characteristic skeletal abnormalities. | ClinVar, OMIM |
| Microcephaly and short stature | Homozygous or compound heterozygous ORC6 mutations cause reduced cell division capacity, particularly affecting brain and skeletal growth. | OMIM, NCBI |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 14.2 | Medium |
| Bone marrow | 10.5 | Medium |
| Lymph node | 9.8 | Medium |
| Brain | 6.3 | Low |
| Liver | 4.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 12.1 | Embryonic kidney cells |
| HeLa | 11.4 | Cervical carcinoma cells |
| K562 | 9.7 | Leukemia cells |
| HepG2 | 5.2 | Hepatocellular carcinoma cells |
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.184C>T (p.Arg62*) | Nonsense | Rare | Premature stop, loss of function |
| c.275_276delAG (p.Gln92Argfs*3) | Frameshift | Rare | Frameshift, loss of function |
Mutation functional classification
Loss of Function (LOF)
Most ORC6 mutations are loss-of-function, leading to reduced ORC complex stability and impaired DNA replication licensing.
Gain of Function (GOF)
No gain-of-function mutations reported for ORC6.
Dominant Negative (DN)
No dominant-negative mutations reported; ORC6 mutations are typically recessive.
View complete mutation data：
Gene Ontology (GO)
| • DNA replication origin binding | • origin recognition complex |
| • nucleus | • chromatin binding |
| • cell cycle |
Pathways
• DNA replication (Reactome: R-HSA-69306)
• Cell cycle (Reactome: R-HSA-1640170)
• ORC assembly (Reactome: R-HSA-68689)
Protein Summary
ORC6 is a 252-amino acid protein (28 kDa) that localizes to the nucleus and is a stable component of the origin recognition complex. Unlike other ORC subunits, ORC6 does not bind ATP but is essential for ORC-chromatin interaction. It contains a conserved domain required for binding to ORC3 and ORC5. ORC6 is also involved in cytokinesis and mitotic progression.
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