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GeneE
26 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.
RPL10
ribosomal protein L10
Chromosome X Β· Xq28
NCBI Gene: 6134Ensembl: ENSG00000147403.19HGNC: HGNC:10298UniProt: P27635
311PubMed Papers
22Diseases
6Drugs
9Pathogenic Variants
FUNCTIONAL ROLE
Highly ConstrainedHub Gene
CLINICAL
FDA Approved TargetOMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
cytosolmembranecytosolic large ribosomal subunitstructural constituent of ribosomeintellectual disability, X-linked, syndromic, 35X-linked intellectual disability - psychosis - macroorchidisminfluenzaDuchenne muscular dystrophy
✦AI Summary

RPL10 is a structural component of the large cytoplasmic ribosomal subunit that plays essential roles in ribosome biogenesis and protein translation 1. The protein functions in the final stages of ribosome assembly and is required for formation of actively translating ribosomes 2. RPL10 may also contribute to embryonic brain development 3. Beyond canonical ribosomal functions, RPL10 participates in post-translational modifications; ufmylation of RPL10 enhances pancreatic cancer cell proliferation and stemness through KLF4 upregulation 4, while m6A-methylated RPL10 functions within an RNase P/MRP complex regulating circRNA abundance in intervertebral disc homeostasis 5. Hemizygous missense mutations in RPL10 cause X-linked intellectual disability syndrome characterized by cognitive impairment, autism spectrum disorder, seizures, and dysmorphic features 6. Notably, the recurrent p.(Arg32Leu) variant, located in the 28S rRNA-binding region, expands the phenotype to include postnatal microcephaly and retinal degeneration 7. RPL10 mutations also appear recurrently in hematologic malignancies, including T-cell acute lymphoblastic leukemia where RPL10 deregulation affects protein translation pathways 8, and high-grade neuroendocrine cervical carcinoma 9.

Sources cited
1
RPL10 is a constituent of the large ribosomal subunit with roles in ribosome biogenesis and function
PMID: 33227977
2
RPL10 component of large ribosomal subunit involved in formation of actively translating ribosomes
PMID: 26290468
3
RPL10 may play a role in embryonic brain development
PMID: 25316788
4
RPL10 ufmylation enhances pancreatic cancer cell proliferation and stemness via KLF4 upregulation
PMID: 37280198
5
m6A-methylated RPL10 functions in RNase P/MRP complex regulating circRNA abundance
PMID: 37438603
6
De novo RPL10 mutations cause X-linked intellectual disability with seizures, microcephaly, and dysmorphic features
PMID: 29066376
7
RPL10 p.(Arg32Leu) variant causes postnatal microcephaly and retinal degeneration in addition to intellectual disability
PMID: 35876338
8
RPL10 deregulation occurs in T-cell acute lymphoblastic leukemia affecting protein translation pathways
PMID: 34440292
9
RPL10 mutations identified as recurrent alterations in high-grade neuroendocrine cervical carcinoma
PMID: 38625939
Disease Associationsβ“˜22
intellectual disability, X-linked, syndromic, 35Open Targets
0.79Strong
X-linked intellectual disability - psychosis - macroorchidismOpen Targets
0.56Moderate
influenzaOpen Targets
0.46Moderate
Duchenne muscular dystrophyOpen Targets
0.46Moderate
multiple myelomaOpen Targets
0.44Moderate
cystic fibrosisOpen Targets
0.39Weak
autismOpen Targets
0.37Weak
T-cell acute lymphoblastic leukemiaOpen Targets
0.37Weak
Endometrial Endometrioid AdenocarcinomaOpen Targets
0.37Weak
Hepatobiliary NeoplasmOpen Targets
0.37Weak
X-linked non-syndromic intellectual disabilityOpen Targets
0.37Weak
X-linked syndromic intellectual disabilityOpen Targets
0.37Weak
diffuse large B-cell lymphomaOpen Targets
0.30Weak
non-Hodgkins lymphomaOpen Targets
0.29Weak
chronic lymphocytic leukemiaOpen Targets
0.29Weak
hepatocellular carcinomaOpen Targets
0.28Weak
ovarian serous adenocarcinomaOpen Targets
0.28Weak
papillary thyroid carcinomaOpen Targets
0.28Weak
gliomaOpen Targets
0.28Weak
prostate adenocarcinomaOpen Targets
0.28Weak
Autism, X-linked 5UniProt
Intellectual developmental disorder, X-linked, syndromic 35UniProt
Pathogenic Variants9
NM_006013.5(RPL10):c.95G>T (p.Arg32Leu)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 32
NM_006013.5(RPL10):c.283C>T (p.His95Tyr)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 95
NM_006013.5(RPL10):c.565C>T (p.Arg189Trp)Likely pathogenic
Intellectual disability, X-linked, syndromic, 35
β˜…β˜†β˜†β˜†2020β†’ Residue 189
NM_006013.5(RPL10):c.482G>A (p.Gly161Asp)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2020β†’ Residue 161
NM_006013.5(RPL10):c.232A>G (p.Lys78Glu)Pathogenic
Intellectual disability, X-linked, syndromic, 35|not provided
β˜…β˜†β˜†β˜†2019β†’ Residue 78
NM_006013.5(RPL10):c.8G>A (p.Arg3His)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2015β†’ Residue 3
NM_006013.5(RPL10):c.481G>A (p.Gly161Ser)Pathogenic
Intellectual disability, X-linked, syndromic, 35
β˜†β˜†β˜†β˜†2024β†’ Residue 161
NM_006013.5(RPL10):c.191C>T (p.Ala64Val)Pathogenic
Intellectual disability, X-linked, syndromic, 35
β˜†β˜†β˜†β˜†2024β†’ Residue 64
NM_006013.5(RPL10):c.452C>T (p.Ala151Val)Pathogenic
Intellectual disability, X-linked, syndromic, 35
β˜†β˜†β˜†β˜†β†’ Residue 151
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
BTF3Protein interaction100%GSPT1Protein interaction100%RPSAProtein interaction100%NACAProtein interaction100%RPL3Protein interaction100%RPL4Protein interaction100%
Tissue Expression6 tissues
Ovary
100%
Lung
50%
Liver
33%
Bone Marrow
29%
Heart
26%
Brain
24%
Gene Interaction Network
Click a node to explore
RPL10BTF3GSPT1RPSANACARPL3RPL4
PROTEIN STRUCTURE
Preparing viewer…
PDB8A3D Β· 1.67 Γ… Β· EM
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.30Highly Constrained
pLIβ“˜
1.00Intolerant
Observed/Expected LoF0.06 [0.02–0.30]
RankingsWhere RPL10 stands among ~20K protein-coding genes
  • #1,102of 20,598
    Most Researched311 Β· top 10%
  • #786of 1,025
    FDA-Approved Drug Targets1
  • #2,910of 5,498
    Most Pathogenic Variants9
  • #1,161of 17,882
    Most Constrained (LOEUF)0.30 Β· top 10%
Genes detectedRPL10
Sources retrieved26 papers
Response timeβ€”
πŸ“„ Sources
26β–Ό
1
T-Cell Acute Lymphoblastic Leukemia: Biomarkers and Their Clinical Usefulness.
PMID: 34440292
Genes (Basel) Β· 2021
1.00
2
The ufmylation modification of ribosomal protein L10 in the development of pancreatic adenocarcinoma.
PMID: 37280198
Cell Death Dis Β· 2023
0.90
3
Postnatal microcephaly and retinal involvement expand the phenotype of RPL10-related disorder.
PMID: 35876338
Am J Med Genet A Β· 2022
0.80
4
N6-methyladenosine hypomethylation of circGPATCH2L regulates DNA damage and apoptosis through TRIM28 in intervertebral disc degeneration.
PMID: 37438603
Cell Death Differ Β· 2023
0.70
5
Mutational analysis of the ribosomal protein Rpl10 from yeast.
PMID: 17761675
J Biol Chem Β· 2007
0.64