PPRC1

Chr 10

PPARG related coactivator 1

Also known as: PRC

NCBI Gene: 23082ENSG00000148840UniProt: Q5VV67

The protein encoded by this gene is similar to PPAR-gamma coactivator 1 (PPARGC1/PGC-1), a protein that can activate mitochondrial biogenesis in part through a direct interaction with nuclear respiratory factor 1 (NRF1). This protein has been shown to interact with NRF1. It is thought to be a functional relative of PPAR-gamma coactivator 1 that activates mitochondrial biogenesis through NRF1 in response to proliferative signals. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013]

ResearchGenerating 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
2
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.15
LOEUF· LoF intol.
LOF
Mechanism· predicted
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
LoF intolerant — likely haploinsufficient
LoF Constraint?
0.15LOEUF
pLI 1.000
Z-score 6.72
OE 0.07 (0.03–0.15)
Highly constrained

Highly LoF-intolerant (top ~10% of genes)

Missense Constraint?
0.24Z-score
OE missense 0.98 (0.92–1.03)
898 obs / 918.9 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.07 (0.03–0.15)
0≤0.351.4
Missense OE?0.98 (0.92–1.03)
0≤0.61.4
Synonymous OE?1.05
0≤1.21.6
LoF obs/exp: 4 / 60.4Missense obs/exp: 898 / 918.9Syn Z: -0.75

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

PPRC1 · 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

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

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