LARP1

Chr 5

La ribonucleoprotein 1, translational regulator

Also known as: LARP, Lar1, Lhp1

NCBI Gene: 23367ENSG00000155506UniProt: Q6PKG0

Enables several functions, including RNA binding activity; eukaryotic initiation factor 4E binding activity; and ribosomal small subunit binding activity. Involved in several processes, including TORC1 signaling; cellular response to rapamycin; and post-transcriptional regulation of gene expression. Located in TORC1 complex and cytoplasmic stress granule. [provided by Alliance of Genome Resources, Jul 2025]

132
ClinVar variants
11
Pathogenic / LP
1.00
pLI score· haploinsufficient
0
Active trials
Clinical Summary— LARP1
⚡
Population Constraint (gnomAD)
Highly constrained gene — heterozygous loss-of-function variants are very rare in the population (pLI 1.00). One damaged copy is likely sufficient to cause disease.
📋
ClinVar Variants
11 Pathogenic / Likely Pathogenic· 113 VUS of 132 total submissions

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
LoF intolerant — likely haploinsufficient
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.
0.17LOEUF
pLI 1.000
Z-score 6.41
OE 0.07 (0.03–0.17)
Highly constrained

Highly LoF-intolerant (top ~10% 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.
3.07Z-score
OE missense 0.65 (0.60–0.71)
406 obs / 621.2 exp
Mild constraint

Moderately missense-constrained (top ~2.5%)

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.0.07 (0.03–0.17)
0≤0.351.4
Missense OE?Ratio of observed to expected missense variants. OE ≤ 0.6 = fewer missense variants than expected by chance.0.65 (0.60–0.71)
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.0.92
0≤1.21.6
LoF obs/exp: 4 / 55.6Missense obs/exp: 406 / 621.2Syn Z: 0.91

ClinVar Variant Classifications

132 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic11
VUS113
Likely Benign6
Benign1
Conflicting1
11
Pathogenic
113
VUS
6
Likely Benign
1
Benign
1
Conflicting

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
11
0
11
Likely Pathogenic
0
0
0
0
0
VUS
0
108
5
0
113
Likely Benign
0
4
1
1
6
Benign
0
0
0
1
1
Conflicting
—1
Total0112172132

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

View in ClinVar →

Protein Context — Lollipop Plot

LARP1 · 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
Transforming acidic coiled-coil-containing protein 3-mediated lipid metabolism reprogramming impairs CD8(+) T-cell cytotoxicity in hepatocellular carcinoma.
Li Y et al.·Signal Transduct Target Ther
2025
LARP1 haploinsufficiency is associated with an autosomal dominant neurodevelopmental disorder.
Chettle J et al.·HGG Adv
2024
Integrative analysis of m7G methylation-associated genes prognostic signature with immunotherapy and identification of LARP1 as a key oncogene in head and neck squamous cell carcinoma.
Xu J et al.·Front Immunol
2025
LARP1 predict the prognosis for early-stage and AFP-normal hepatocellular carcinoma.
Xie C et al.·J Transl Med
2013
LARP1 binding to hepatitis C virus particles is correlated with intracellular retention of viral infectivity.
Plissonnier ML et al.·Virus Res
2019
N7-methylguanosine methylation-related regulator genes as biological markers in predicting prognosis for melanoma.
Deng J et al.·Sci Rep
2022
Deciphering N7-methylguanosine-driven immune dysregulation in unexplained recurrent spontaneous abortion based on transcriptome data and experimental validation.
Guo Q et al.·Eur J Med Res
2025
Identification and bioinformatics analysis of lncRNAs in serum of patients with ankylosing spondylitis.
Kou J et al.·BMC Musculoskelet Disord
2024Review
Integrative Role of RNA N7-methylguanosine in epilepsy: Regulation of neuronal oxidative phosphorylation, programmed death and immune microenvironment.
Zhao J et al.·PLoS One
2025
The methyltransferase KIAA1429 potentiates cervical cancer tumorigenesis via modulating LARP1 mRNA m(6)A modification and stability.
Feng X et al.·Histol Histopathol
2025
Top 10 resultsSearch PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
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