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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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BMS1
BMS1 ribosome biogenesis factor
Chromosome 10 · 10q11.21
NCBI Gene: 9790Ensembl: ENSG00000165733.9HGNC: HGNC:23505UniProt: Q14692
130PubMed Papers
21Diseases
0Drugs
1Pathogenic Variants
FUNCTIONAL ROLE
Hub Gene
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
RNA bindingprotein bindingribosomal small subunit biogenesisnucleolusaplasia cutis congenitaAlzheimer diseaseneurodegenerative diseaseParkinson disease
✦AI Summary

BMS1 is a conserved GTPase essential for 40S ribosomal subunit biogenesis and pre-rRNA processing. 1 BMS1 functions within the small subunit (SSU) processome complex, where it interacts with RCL1 to facilitate 18S rRNA maturation at cleavage sites A0, A1, and A2. 1 This interaction is GTP-dependent and controls RCL1 nucleolar entry and stability; without BMS1 binding, RCL1 undergoes proteasomal degradation. 1 BMS1 is required for RCL1 import into the nucleus and mediates conformational changes necessary for substrate recognition. 2 In vertebrates, BMS1-like (Bms1l) is essential for digestive organ development, particularly hepatocyte proliferation in zebrafish, with mutations causing liver, pancreatic, and intestinal hypoplasia. 2 Clinically, BMS1 dysfunction associates with aplasia cutis congenita, a non-syndromic disorder. 3 BMS1 appears among hub genes in chr10 kidney disease pathogenesis, suggesting roles beyond ribosome biogenesis. 4 BMS1 networks with metabolic genes in hepatocellular carcinoma prognosis, participating in prognostic models for cancer survival prediction. The BMS1-RCL1 interaction represents a critical regulatory nexus linking ribosome biogenesis to cell cycle control and developmental processes.

Sources cited
1
BMS1 interacts with RCL1 in the SSU processome for 18S rRNA processing; RCL1 stability and nucleolar entry depend on BMS1 binding; interaction is GTP-dependent
PMID: 37451810
2
Bms1l is essential for zebrafish liver, pancreas, and intestine development; bms1l mutations cause hepatoblast proliferation impairment
PMID: 23021545
3
BMS1 identified as hub gene in chronic kidney disease pathogenesis via WGCNA analysis
PMID: 35571562
4
BMS1 included in METTL17-related prognostic model for hepatocellular carcinoma with prognostic significance
PMID: 39825447
⚠Limited data available — This gene has 4 indexed publications. Summary and analysis may be incomplete.
Disease Associationsⓘ21
aplasia cutis congenitaOpen Targets
0.55Moderate
Alzheimer diseaseOpen Targets
0.48Moderate
neurodegenerative diseaseOpen Targets
0.46Moderate
lysosomal storage diseaseOpen Targets
0.46Moderate
multiple sclerosisOpen Targets
0.46Moderate
Parkinson diseaseOpen Targets
0.46Moderate
placenta praeviaOpen Targets
0.30Weak
celiac diseaseOpen Targets
0.28Weak
diabetic neuropathyOpen Targets
0.23Weak
gastric ulcerOpen Targets
0.14Weak
hepatocellular carcinomaOpen Targets
0.09Suggestive
neoplasmOpen Targets
0.06Suggestive
retinitis pigmentosaOpen Targets
0.06Suggestive
corneal neovascularizationOpen Targets
0.06Suggestive
early-onset non-syndromic cataractOpen Targets
0.06Suggestive
Familial exudative vitreoretinopathyOpen Targets
0.06Suggestive
non-small cell lung carcinomaOpen Targets
0.06Suggestive
HerniaOpen Targets
0.06Suggestive
colorectal carcinomaOpen Targets
0.05Suggestive
ovarian neoplasmOpen Targets
0.05Suggestive
Aplasia cutis congenita, non-syndromicUniProt
Pathogenic Variants1
NM_014753.4(BMS1):c.2789G>A (p.Arg930His)Pathogenic
Aplasia cutis congenita
☆☆☆☆2013→ Residue 930
View on ClinVar ↗
Related Genes
DHX15Protein interaction100%MCCProtein interaction100%NOP14Protein interaction100%HEATR1Protein interaction100%UTP15Protein interaction100%NOP56Protein interaction100%
Tissue Expression6 tissues
Bone Marrow
100%
Brain
89%
Heart
87%
Lung
80%
Ovary
78%
Liver
68%
Gene Interaction Network
Click a node to explore
BMS1DHX15MCCNOP14HEATR1UTP15NOP56
PROTEIN STRUCTURE
Preparing viewer…
PDB7MQA · 2.70 Å · EM
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.51Moderately Constrained
pLIⓘ
0.50Intermediate
Observed/Expected LoF0.40 [0.32–0.51]
RankingsWhere BMS1 stands among ~20K protein-coding genes
  • #3,583of 20,598
    Most Researched130 · top quartile
  • #4,805of 5,498
    Most Pathogenic Variants1
  • #3,078of 17,882
    Most Constrained (LOEUF)0.51 · top quartile
Genes detectedBMS1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Prevotellaceae produces butyrate to alleviate PD-1/PD-L1 inhibitor-related cardiotoxicity via PPARα-CYP4X1 axis in colonic macrophages.
PMID: 34980222
J Exp Clin Cancer Res · 2022
1.00
2
Metabolism/Immunity Dual-Regulation Thermogels Potentiating Immunotherapy of Glioblastoma Through Lactate-Excretion Inhibition and PD-1/PD-L1 Blockade.
PMID: 38460167
Adv Sci (Weinh) · 2024
0.90
3
Stability and function of RCL1 are dependent on the interaction with BMS1.
PMID: 37451810
J Mol Cell Biol · 2024
0.80
4
Interaction between Bms1 and Rcl1, two ribosome biogenesis factors, is evolutionally conserved in zebrafish and human.
PMID: 27474224
J Genet Genomics · 2016
0.70
5
Integrated proteomic and glycoproteomic analysis reveals heterogeneity and molecular signatures of brain metastases from lung adenocarcinomas.
PMID: 39341452
Cancer Lett · 2024
0.60