NOLC1

Chr 10

nucleolar and coiled-body phosphoprotein 1

Also known as: NOPP130, NOPP140, NS5ATP13, P130, Srp40

NCBI Gene: 9221ENSG00000166197UniProt: Q14978OMIM: 602394

Enables protein heterodimerization activity; protein kinase inhibitor activity; and protein-macromolecule adaptor activity. Involved in mesenchymal cell differentiation and regulation of protein metabolic process. Acts upstream of or within axonogenesis and regulation of synaptic plasticity. Located in fibrillar center. [provided by Alliance of Genome Resources, Jun 2026]

OMIMResearchGenerating clinical summary…
0
Active trials
15
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.60
LOEUF
DN
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
0.60LOEUF
pLI 0.000
Z-score 3.38
OE 0.38 (0.24–0.60)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
-1.00Z-score
OE missense 1.15 (1.06–1.24)
427 obs / 372.6 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.38 (0.24–0.60)
0≤0.351.4
Missense OE?1.15 (1.06–1.24)
0≤0.61.4
Synonymous OE?1.09
0≤1.21.6
LoF obs/exp: 13 / 34.3Missense obs/exp: 427 / 372.6Syn Z: -0.86

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

NOLC1 · 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