PROCA1
Chr 17protein interacting with cyclin A1
Enables cyclin binding activity. Predicted to be involved in arachidonate secretion and phospholipid metabolic process. [provided by Alliance of Genome Resources, Jul 2025]
77
ClinVar variants
6
Pathogenic / LP
0.00
pLI score
-0.4
Missense Z
1.46
LOEUF
0
Active trials
Clinical Summary— PROCA1
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
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ClinVar Variants
6 Pathogenic / Likely Pathogenic· 56 VUS of 77 total submissions
Some data sources returned errors (1)
ensembl: Error: Ensembl fetch failed: 500 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/PROCA1?content-type=application/json&expand=1
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Tolerant — LoF & missense variants common in population
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.
1.46LOEUF
pLI 0.000
Z-score 0.33
OE 0.90 (0.58–1.46)
Highly tolerant — LoF variants common in population
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.
-0.42Z-score
OE missense 1.09 (0.97–1.22)
207 obs / 190.7 exp
Tolerant to missense variation
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.0.90 (0.58–1.46)
0≤0.351.4
Missense OE?Ratio of observed to expected missense variants. OE ≤ 0.6 = fewer missense variants than expected by chance.1.09 (0.97–1.22)
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.1.10
0≤1.21.6
LoF obs/exp: 12 / 13.3Missense obs/exp: 207 / 190.7Syn Z: -0.71
ClinVar Variant Classifications
77 submitted variants in ClinVar
Classification Summary
Pathogenic5
Likely Pathogenic1
VUS56
Likely Benign11
Benign4
5
Pathogenic
1
Likely Pathogenic
56
VUS
11
Likely Benign
4
Benign
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 0 | 0 | 5 | 0 | 5 |
Likely Pathogenic | 0 | 0 | 1 | 0 | 1 |
VUS | 0 | 52 | 4 | 0 | 56 |
Likely Benign | 0 | 10 | 0 | 1 | 11 |
Benign | 1 | 1 | 1 | 1 | 4 |
| Total | 1 | 63 | 11 | 2 | 77 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
PROCA1 · 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
PROLINE-RICH CYCLIN A1-INTERACTING PROTEIN; PROCA1
MIM #617376 · *
External Resources
Links to major genomics databases and tools
Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
GRPR-targeted Protein Contrast Agents for Molecular Imaging of Receptor Expression in Cancers by MRI.
Pu F et al.·Sci Rep
2015
Clinical genomics expands the morbid genome of intellectual disability and offers a high diagnostic yield.
Anazi S et al.·Mol Psychiatry
2017
PEGylation of protein-based MRI contrast agents improves relaxivities and biocompatibilities.
Li S et al.·J Inorg Biochem
2012
Top 10 resultsSearch PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Unraveling the Impact of the PROCA1 Mutation in Male Infertility: Incorporating Whole Exome Sequencing in Teratozoospermia Patients and Analyzing Proca1 Knockout Mice.
Zheng N et al.·Reprod Sci
2025Cohort
Downregulation of Linc00173 increases BCL2 mRNA stability via the miR-1275/PROCA1/ZFP36L2 axis and induces acquired cisplatin resistance of lung adenocarcinoma.
Tao X et al.·J Exp Clin Cancer Res
2023Open Access
Top 5 resultsSearch Europe PMC ↗
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
Obesity enhances the response to neoadjuvant anti-PD1 therapy in oral tongue squamous cell carcinoma.
Tan X et al.·Cancer Med
2024
Protein MRI Contrast Agents as an Effective Approach for Precision Molecular Imaging.
Li D et al.·Invest Radiol
2024
Omics and Male Infertility: Highlighting the Application of Transcriptomic Data
Omolaoye TS et al.·Life (Basel)
2022
A genome-wide association study of quantitative computed tomographic emphysema in Korean populations
Sin S et al.·Sci Rep
2021
A characteristic cerebellar biosignature for bipolar disorder, identified with fully automatic machine learning
Thomaidis GV et al.·IBRO Neurosci Rep
2023
Comparative Proteomics and Phosphoproteomics Analysis Reveal the Possible Breed Difference in Yorkshire and Duroc Boar Spermatozoa
Xu Y et al.·Front Cell Dev Biol
2021
Top 7 full-text resultsSearch PubTator3 ↗
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools