RING1

Chr 6

ring finger protein 1

Also known as: RING1A, RNF1

This gene belongs to the RING finger family, members of which encode proteins characterized by a RING domain, a zinc-binding motif related to the zinc finger domain. The gene product can bind DNA and can act as a transcriptional repressor. It is associated with the multimeric polycomb group protein complex. The gene product interacts with the polycomb group proteins BMI1, EDR1, and CBX4, and colocalizes with these proteins in large nuclear domains. It interacts with the CBX4 protein via its glycine-rich C-terminal domain. The gene maps to the HLA class II region, where it is contiguous with the RING finger genes FABGL and HKE4. [provided by RefSeq, Jul 2008]

GeneReviewsResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant
This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.
0
Active trials
27
Pubs (1 yr)
P/LP submissions
P/LP missense
0.47
LOEUF
LOF
Mechanism· predicted
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GeneReview available — RING1
Authoritative clinical overview · Recommended first read
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Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Moderate LoF intolerance
LoF Constraint?
0.47LOEUF
pLI 0.649
Z-score 3.07
OE 0.18 (0.080.47)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint?
2.56Z-score
OE missense 0.54 (0.470.62)
133 obs / 245.9 exp
Mild constraint

Moderately missense-constrained (top ~2.5%)

Observed / Expected Ratios?
LoF OE?0.18 (0.080.47)
00.351.4
Missense OE?0.54 (0.470.62)
00.61.4
Synonymous OE?1.01
01.21.6
LoF obs/exp: 3 / 16.4Missense obs/exp: 133 / 245.9Syn Z: -0.07

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

RING1 · protein map & ClinVar variants

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

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

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