ORC1

Chr 1AR

origin recognition complex subunit 1

ENSG00000085840UniProt: Q9Y619OMIM: 601902

The protein encoded by this gene is the largest subunit of the origin recognition complex, which binds to DNA replication origins and serves as a platform for assembly of DNA replication initiation factors. Mutations cause Meier-Gorlin syndrome 1, characterized by pre- and postnatal growth retardation, microcephaly, and skeletal abnormalities including absent or underdeveloped kneecaps. This condition follows autosomal recessive inheritance.

OMIMResearchSummary from RefSeq, OMIM, UniProt
LOFmechanismARLOEUF 0.881 OMIM phenotype
Clinical Summary— ORC1
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint
0.88LOEUF
pLI 0.000
Z-score 2.20
OE 0.65 (0.48–0.88)
Tolerant

Typical tolerance to LoF variation

Missense Constraint
0.24Z-score
OE missense 0.97 (0.90–1.05)
455 obs / 469.4 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.65 (0.48–0.88)
0≤0.351.4
Missense OE0.97 (0.90–1.05)
0≤0.61.4
Synonymous OE0.95
0≤1.21.6
LoF obs/exp: 29 / 44.9Missense obs/exp: 455 / 469.4Syn Z: 0.57

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

ORC1 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

3D Protein StructureAlphaFold

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

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Clinical Literature
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Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Top 5 full-text resultsSearch PubTator3 ↗
Key Publications
Landmark & review papers · by relevance
PubMed
Top 5 results · since 2015Search PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients