CAP1

Chr 1

cyclase associated actin cytoskeleton regulatory protein 1

Also known as: CAP, CAP1-PEN

NCBI Gene: 10487ENSG00000131236UniProt: Q01518

The protein encoded by this gene is related to the S. cerevisiae CAP protein, which is involved in the cyclic AMP pathway. The human protein is able to interact with other molecules of the same protein, as well as with CAP2 and actin. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Aug 2016]

82
ClinVar variants
8
Pathogenic / LP
0.02
pLI score
0
Active trials
Clinical Summary— CAP1
⚡
Population Constraint (gnomAD)
Constrained for loss-of-function variants (OE-LoF 0.30) despite low pLI — interpret in context.
📋
ClinVar Variants
8 Pathogenic / Likely Pathogenic· 71 VUS of 82 total submissions

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Moderate LoF intolerance
LoF Constraint?LOEUF (Loss-of-function Observed/Expected Upper bound Fraction) is the upper bound of the 90% CI for LoF OE — the preferred gnomAD v4 metric. Lower = more intolerant to LoF. LOEUF < 0.35 = highly constrained.
0.55LOEUF
pLI 0.020
Z-score 3.32
OE 0.30 (0.18–0.55)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint?Missense Z-score: standard deviations fewer missense variants observed vs. expected. Z > 3.09 (p < 0.001) = gene does not tolerate missense variation. OE missense < 0.6 is also considered constrained.
1.27Z-score
OE missense 0.78 (0.69–0.88)
205 obs / 263.2 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?Shaded band = 90% confidence interval. Vertical tick = point estimate. Grey threshold line = gnomAD constraint cutoff for that variant class.
LoF OE?Ratio of observed to expected LoF variants. Upper CI bound (LOEUF) ≤ 0.35 = strong LoF constraint signal.0.30 (0.18–0.55)
0≤0.351.4
Missense OE?Ratio of observed to expected missense variants. OE ≤ 0.6 = fewer missense variants than expected by chance.0.78 (0.69–0.88)
0≤0.61.4
Synonymous OE?Control metric — synonymous variants are largely neutral and expected near OE = 1.0. Significant deviation may indicate annotation issues.0.93
0≤1.21.6
LoF obs/exp: 8 / 26.4Missense obs/exp: 205 / 263.2Syn Z: 0.53

ClinVar Variant Classifications

82 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic6
Likely Pathogenic2
VUS71
Likely Benign1
Benign2
6
Pathogenic
2
Likely Pathogenic
71
VUS
1
Likely Benign
2
Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
6
0
6
Likely Pathogenic
0
0
2
0
2
VUS
0
68
3
0
71
Likely Benign
0
1
0
0
1
Benign
0
0
0
2
2
Total06911282

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

CAP1 · protein map & ClinVar variants

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

OMIM — Genotype-Phenotype Relationships

1 OMIM entry

OMIM
Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
PubMed
CAP1: a novel extracellular vesicle marker linked to endothelial senescence in atherosclerosis.
Hernandez I et al.·Biol Direct
2025
Phosphorylation of CAP1 regulates lung cancer proliferation, migration, and invasion.
Zeng J et al.·J Cancer Res Clin Oncol
2022
CRISPR-Cas9 screening identified novel subtypes of cutaneous melanoma based on essential cancer genes.
Wang YX et al.·Arch Dermatol Res
2024
Resistin induces chemokine and matrix metalloproteinase production via CAP1 receptor and activation of p38-MAPK and NF-κB signalling pathways in human chondrocytes.
Zhao CW et al.·Clin Exp Rheumatol
2022
Effects of tumor-specific CAP1 expression and body constitution on clinical outcomes in patients with early breast cancer.
Bergqvist M et al.·Breast Cancer Res
2020Cohort
Here, there and everywhere: Resistin-like molecules in infection, inflammation, and metabolic disorders.
Pine GM et al.·Cytokine
2018Review
p53 maintains lineage fidelity during lung capillary injury-repair in neonatal hyperoxia.
Vila Ellis L et al.·JCI Insight
2025
Resistin upregulates fatty acid oxidation in synoviocytes of metabolic syndrome-associated knee osteoarthritis via CAP1/PKA/CREB to promote inflammation and catabolism.
Ding L et al.·Arthritis Res Ther
2025
Resistin in cardiac diseases: from molecular mechanisms to clinical implications.
Ling Y et al.·Front Endocrinol (Lausanne)
2025Review
Phosphorylation of the cytoskeletal protein CAP1 controls its association with cofilin and actin.
Zhou GL et al.·J Cell Sci
2014
Top 10 resultsSearch PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Recurrent mutations in the stress regulator Cap1 reveal a trade-off between azole resistance and oxidative stress response in Candida albicans.
Zhou X et al.·PLoS Biol
2026🔓 Open Access
Vacuole and mitochondria patch (vCLAMP) protein Mcp1 reduces the pathogenesis of Candida albicans by impeding the function of Cap1-mediated oxidative stress response.
Wei Y et al.·BMC Microbiol
2026🔓 Open Access
Arabidopsis CAP1 interacts with myosin XI-K to regulate root hair tip growth.
Zhou X et al.·Plant Physiol Biochem
2026
Up-regulating methylation of CAP1 promoter can promote apoptosis and inhibit migration and invasion of lung adenocarcinoma cells.
Li G et al.·Eur J Med Res
2025🔓 Open Access
Dietary K+ supplementation restores normal aldosterone level in Na+-deprived renal tubule-specific CAP1/Prss8-deficient mice.
Ehret E et al.·Am J Physiol Renal Physiol
2025
Top 5 resultsSearch Europe PMC ↗

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