ROCK1

Chr 18

Rho associated coiled-coil containing protein kinase 1

Also known as: P160ROCK, ROCK-I

NCBI Gene: 6093ENSG00000067900UniProt: Q13464OMIM: 601702

This gene encodes a protein serine/threonine kinase that is activated when bound to the GTP-bound form of Rho. The small GTPase Rho regulates formation of focal adhesions and stress fibers of fibroblasts, as well as adhesion and aggregation of platelets and lymphocytes by shuttling between the inactive GDP-bound form and the active GTP-bound form. Rho is also essential in cytokinesis and plays a role in transcriptional activation by serum response factor. This protein, a downstream effector of Rho, phosphorylates and activates LIM kinase, which in turn, phosphorylates cofilin, inhibiting its actin-depolymerizing activity. A pseudogene, related to this gene, is also located on chromosome 18. [provided by RefSeq, Aug 2015]

GeneReviewsOMIMResearchGenerating 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.
1
Active trials
244
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.20
LOEUF· LoF intol.
LOF
Mechanism· predicted
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GeneReview available — ROCK1
Authoritative clinical overview · Recommended first read
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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Dual constrained — LoF & missense intolerant
LoF Constraint?
0.20LOEUF
pLI 1.000
Z-score 7.63
OE 0.12 (0.07–0.20)
Highly constrained

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

Missense Constraint?
4.59Z-score
OE missense 0.50 (0.45–0.55)
327 obs / 658.1 exp
Constrained

Highly missense-constrained (top ~0.1%)

Observed / Expected Ratios?
LoF OE?0.12 (0.07–0.20)
0≤0.351.4
Missense OE?0.50 (0.45–0.55)
0≤0.61.4
Synonymous OE?0.93
0≤1.21.6
LoF obs/exp: 10 / 86.6Missense obs/exp: 327 / 658.1Syn Z: 0.86

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

ROCK1 · protein map & ClinVar variants

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

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