RPL35

Chr 9AD

ribosomal protein L35

Also known as: DBA19, L35, uL29

NCBI Gene: 11224ENSG00000136942UniProt: P42766OMIM: 618315

The protein is a structural component of the large 60S ribosomal subunit that catalyzes protein synthesis in the cytoplasm. Mutations cause Diamond-Blackfan anemia 19, inherited in an autosomal dominant pattern. The pathogenic mechanism involves impaired ribosome function leading to defective protein synthesis and the characteristic bone marrow failure seen in Diamond-Blackfan anemia.

OMIMResearchSummary from RefSeq, OMIM, UniProt
LOFmechanismADLOEUF 0.721 OMIM phenotype
Clinical Summary— RPL35
⚡
Population Constraint (gnomAD)
Moderately constrained gene (pLI 0.55) — some intolerance to loss-of-function variants.
Explore recent and relevant literature in Research Assistant →

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Moderate LoF intolerance
LoF Constraint
0.72LOEUF
pLI 0.549
Z-score 2.01
OE 0.15 (0.05–0.72)
Moderately constrained

Typical tolerance to LoF variation

Missense Constraint
1.22Z-score
OE missense 0.62 (0.49–0.78)
51 obs / 82.2 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.15 (0.05–0.72)
0≤0.351.4
Missense OE0.62 (0.49–0.78)
0≤0.61.4
Synonymous OE1.50
0≤1.21.6
LoF obs/exp: 1 / 6.6Missense obs/exp: 51 / 82.2Syn Z: -2.24
DN
0.4785th %ile
GOF
0.1999th %ile
LOF
0.58top 25%

The highest-scoring mechanism for this gene is loss-of-function (haploinsufficiency).

LOF1 literature citation

Literature Evidence

LOFWe show that RPL35A haploinsufficiency is a cause of DBA and we report a novel case with 3q27.2-qter deletion and immunodeficiency.PMID:28432740

Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

RPL35 · protein map & ClinVar variants

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

3D Protein StructureAlphaFold

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

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Clinical Literature
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Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Top 5 full-text resultsSearch PubTator3 ↗
Key Publications
Landmark & review papers · by relevance
PubMed
TENT5A mediates the cancer-inhibiting effects of EGR1 by suppressing the protein stability of RPL35 in hepatocellular carcinoma.
Min X et al.·Cell Oncol (Dordr)
2024
Potential mechanisms for predicting comorbidity between multiple myeloma and femoral head necrosis based on multiple bioinformatics.
Li J et al.·Comput Biol Chem
2024Functional
[Bioinformatics Analysis and Verification of Acute B-Lymphocytic Leukemia in Children with Isolated Bone Marrow Relapse].
Wang HY et al.·Zhongguo Shi Yan Xue Ye Xue Za Zhi
2021
Bioinformatics analysis of potential common pathogenic mechanisms for COVID-19 and venous thromboembolism.
Zhang L et al.·Cytokine
2024Functional
Novel and known ribosomal causes of Diamond-Blackfan anaemia identified through comprehensive genomic characterisation.
Mirabello L et al.·J Med Genet
2017Clinical trial
Top 5 results · since 2015Search PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

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