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GeneE
25 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
RPL35A
ribosomal protein L35a
Chromosome 3 Β· 3q29
NCBI Gene: 6165Ensembl: ENSG00000182899.18HGNC: HGNC:10345UniProt: P18077
219PubMed Papers
21Diseases
6Drugs
13Pathogenic Variants
FUNCTIONAL ROLE
Highly ConstrainedHub Gene
RESEARCH IMPACT
Trending
CLINICAL
FDA Approved TargetOMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
RNA bindingrRNA processingstructural constituent of ribosomecytosolic large ribosomal subunitBlackfan-Diamond anemiaDiamond-Blackfan anemiainherited bone marrow failure syndromeminimally differentiated acute myeloblastic leukemia
✦AI Summary

RPL35A encodes a ribosomal protein that is a structural component of the large 60S ribosomal subunit, playing an essential role in protein synthesis 1. The protein functions as a structural constituent of the cytosolic ribosome and is involved in ribosomal large subunit biogenesis and cytoplasmic translation 1. Beyond its canonical ribosomal function, RPL35A exhibits extraribosomal roles in cancer progression. In cholangiocarcinoma, RPL35A promotes tumor progression by mediating HSPA8 ubiquitination, leading to increased cell proliferation and migration 2. Similarly, in ovarian cancer, RPL35A drives cancer progression by promoting the binding of transcription factor YY1 to the CTCF promoter 3. In hepatocellular carcinoma, RPL35A overexpression correlates with poor prognosis and promotes tumor growth through NCAPG2 activation 4. The protein also shows tissue-specific upregulation in Alzheimer's disease brain capillaries, where ribosomal protein complexes are significantly elevated 1. RPL35A expression is involved in muscle hypertrophy memory through epigenetic mechanisms 5 and may contribute to orofacial clefting development 6. The gene is located on chromosome 3-qter 7.

Sources cited
1
RPL35A is a ribosomal protein component upregulated in Alzheimer's disease brain capillaries
PMID: 35766008
2
RPL35A promotes cholangiocarcinoma progression by mediating HSPA8 ubiquitination
PMID: 38395908
3
RPL35A drives ovarian cancer progression by promoting YY1-CTCF promoter binding
PMID: 38436544
4
RPL35A overexpression correlates with poor prognosis in hepatocellular carcinoma through NCAPG2 activation
PMID: 40552444
5
RPL35A shows epigenetic memory in muscle hypertrophy
PMID: 29382913
6
RPL35A is a candidate gene for orofacial clefting development
PMID: 39489835
7
RPL35A gene is located on chromosome 3q29-qter
PMID: 8786106
Disease Associationsβ“˜21
Blackfan-Diamond anemiaOpen Targets
0.81Strong
Diamond-Blackfan anemiaOpen Targets
0.72Strong
inherited bone marrow failure syndromeOpen Targets
0.50Moderate
influenzaOpen Targets
0.46Moderate
minimally differentiated acute myeloblastic leukemiaOpen Targets
0.46Moderate
neurodegenerative diseaseOpen Targets
0.46Moderate
Duchenne muscular dystrophyOpen Targets
0.46Moderate
cystic fibrosisOpen Targets
0.39Weak
male reproductive system diseaseOpen Targets
0.15Weak
aniridiaOpen Targets
0.10Suggestive
Becker muscular dystrophyOpen Targets
0.10Suggestive
non-Hodgkins lymphomaOpen Targets
0.09Suggestive
neoplasmOpen Targets
0.09Suggestive
genetic disorderOpen Targets
0.09Suggestive
hepatitis B virus infectionOpen Targets
0.08Suggestive
hepatocellular carcinomaOpen Targets
0.08Suggestive
lung cancerOpen Targets
0.08Suggestive
ovarian cancerOpen Targets
0.07Suggestive
cholangiocarcinomaOpen Targets
0.07Suggestive
triple-negative breast cancerOpen Targets
0.07Suggestive
Diamond-Blackfan anemia 5UniProt
Pathogenic Variants13
NM_000996.4(RPL35A):c.118_119del (p.Glu40fs)Pathogenic
Diamond-Blackfan anemia 5|Diamond-Blackfan anemia
β˜…β˜…β˜†β˜†2018β†’ Residue 40
NM_000996.4(RPL35A):c.140G>T (p.Cys47Phe)Likely pathogenic
Diamond-Blackfan anemia 5
β˜…β˜†β˜†β˜†2025β†’ Residue 47
Single allelePathogenic
Diamond-Blackfan anemia 5
β˜…β˜†β˜†β˜†2024
NM_000996.4(RPL35A):c.147del (p.Ala48_Tyr49insTer)Pathogenic
Diamond-Blackfan anemia 5
β˜…β˜†β˜†β˜†2023β†’ Residue 48
NM_000996.4(RPL35A):c.164+1G>ALikely pathogenic
Diamond-Blackfan anemia 5
β˜…β˜†β˜†β˜†2021
NM_000996.4(RPL35A):c.89T>C (p.Ile30Thr)Likely pathogenic
Diamond-Blackfan anemia 5
β˜…β˜†β˜†β˜†2020β†’ Residue 30
NC_000003.12:g.(?_197950958)_(197955783_?)delPathogenic
Diamond-Blackfan anemia 5
β˜…β˜†β˜†β˜†2018
NM_000996.4(RPL35A):c.258del (p.Lys87fs)Pathogenic
Diamond-Blackfan anemia 5
β˜…β˜†β˜†β˜†2018β†’ Residue 87
NM_000996.4(RPL35A):c.212G>A (p.Trp71Ter)Pathogenic
Diamond-Blackfan anemia 5
β˜…β˜†β˜†β˜†2017β†’ Residue 71
NC_000003.12:g.(?_197950962)_(197955779_?)delPathogenic
Diamond-Blackfan anemia 5
β˜…β˜†β˜†β˜†2017
NM_000996.4(RPL35A):c.165-16_166delLikely pathogenic
Diamond-Blackfan anemia
β˜…β˜†β˜†β˜†2015
NM_000996.4(RPL35A):c.97G>A (p.Val33Ile)Pathogenic
Diamond-Blackfan anemia 5
β˜†β˜†β˜†β˜†2008β†’ Residue 33
NM_000996.4(RPL35A):c.304C>T (p.Arg102Ter)Pathogenic
Diamond-Blackfan anemia 5
β˜†β˜†β˜†β˜†2008β†’ Residue 102
View on ClinVar β†—
Drug Targets6
ATALURENApproved
80S Ribosome modulator
Duchenne muscular dystrophy
CITATUZUMAB BOGATOXPhase I
Epithelial cell adhesion molecule binding agent
ELX-02Phase II
80S Ribosome modulator
cystic fibrosis
MT-3724Phase II
80S Ribosome inhibitor
diffuse large B-cell lymphoma
TELIMOMAB ARITOXPhase II
T-cell surface glycoprotein CD5 binding agent
hepatitis B virus infection
ZOLIMOMAB ARITOXPhase II
T-cell surface glycoprotein CD5 binding agent
arthritis
Related Genes
RPL14Protein interaction100%BTF3Protein interaction100%EEF1A1Protein interaction100%ETF1Protein interaction100%GAGE1Protein interaction100%GAGE2CProtein interaction100%
Tissue Expression6 tissues
Ovary
100%
Bone Marrow
56%
Brain
36%
Lung
36%
Heart
32%
Liver
27%
Gene Interaction Network
Click a node to explore
RPL35ARPL14BTF3EEF1A1ETF1GAGE1GAGE2C
PROTEIN STRUCTURE
Preparing viewer…
PDB8A3D Β· 1.67 Γ… Β· EM
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.20Highly Constrained
pLIβ“˜
1.00Intolerant
Observed/Expected LoF0.00 [0.00–0.20]
RankingsWhere RPL35A stands among ~20K protein-coding genes
  • #1,887of 20,598
    Most Researched219 Β· top 10%
  • #855of 1,025
    FDA-Approved Drug Targets1
  • #2,567of 5,498
    Most Pathogenic Variants13
  • #457of 17,882
    Most Constrained (LOEUF)0.20 Β· top 5%
Genes detectedRPL35A
Sources retrieved25 papers
Response timeβ€”
πŸ“„ Sources
25β–Ό
1
RPL35A promotes the progression of cholangiocarcinoma by mediating HSPA8 ubiquitination.
PMID: 38395908
Biol Direct Β· 2024
1.00
2
Human Skeletal Muscle Possesses an Epigenetic Memory of Hypertrophy.
PMID: 29382913
Sci Rep Β· 2018
0.90
3
Upregulation of ribosome complexes at the blood-brain barrier in Alzheimer's disease patients.
PMID: 35766008
J Cereb Blood Flow Metab Β· 2022
0.80
4
Genotype-phenotype association and variant characterization in Diamond-Blackfan anemia caused by pathogenic variants in
PMID: 32241839
Haematologica Β· 2021
0.72
5
The human L35a ribosomal protein (RPL35A) gene is located at chromosome band 3q29-qter.
PMID: 8786106
Genomics Β· 1996
0.70