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5 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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YAE1
YAE1 maturation factor of ABCE1
Chromosome 7 · 7p14.1
NCBI Gene: 57002Ensembl: ENSG00000241127.10HGNC: HGNC:24857UniProt: Q9NRH1
24PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingprotein maturationnucleuscytoplasmobesitymotion sicknessbiliary tract diseasespinal stenosis
✦AI Summary

YAE1 is a maturation factor that functions as a target-specific adapter within the LTO1:YAE1 complex, recruiting apolipoprotein-ABCE1 to the cytosolic iron-sulfur (Fe-S) protein assembly (CIA) machinery 1. The complex facilitates Fe-S cluster insertion onto ABCE1 through a coordinated sequence of binding events, where LTO1 engages the CIA targeting complex via its conserved C-terminal tryptophan, and YAE1 recruits the ABCE1 protein 1. This function is evolutionarily conserved, as human YAE1D1 can functionally replace its yeast counterpart 1. YAE1 is required for large ribosomal subunit biogenesis and translation initiation 1, with the YAE1-ABCE1 complex playing critical roles in protecting ribosomes from reactive oxygen species (ROS) damage in aerobic conditions 2. Beyond ribosome biogenesis, the LTO1/YAE1 complex regulates nonsense-mediated mRNA decay (NMD), thereby controlling MHC-I antigen expression in tumor cells 3. YAE1 is frequently upregulated in hepatocellular carcinoma and other human malignancies [PMID:41502527; 44], suggesting its overexpression may contribute to cancer development through enhanced ROS protection and altered antigen presentation.

Sources cited
1
YAE1-LTO1 complex recruits ABCE1 to CIA machinery for Fe-S cluster insertion, is required for ribosomal subunit biogenesis and translation initiation
PMID: 26182403
2
YAE1 (as part of LTO1/ABCE1 complex) is essential for large ribosomal subunit maturation and protects ribosomes from ROS damage in aerobic conditions
PMID: 23318452
3
LTO1/YAE1 complex regulates MHC-I expression via nonsense-mediated RNA decay in tumor cells and is frequently overexpressed in human cancers
PMID: 40987494
4
YAE1 is upregulated in hepatocellular carcinoma and associated with poor prognosis
PMID: 41502527
⚠Limited data available — This gene has 4 indexed publications. Summary and analysis may be incomplete.
Disease Associationsⓘ20
obesityOpen Targets
0.16Weak
motion sicknessOpen Targets
0.16Weak
biliary tract diseaseOpen Targets
0.16Weak
spinal stenosisOpen Targets
0.15Weak
restless legs syndromeOpen Targets
0.15Weak
response to antihypertensive drugOpen Targets
0.14Weak
glaucomaOpen Targets
0.14Weak
joint diseaseOpen Targets
0.13Weak
upper extremity fractureOpen Targets
0.11Weak
nervous system diseaseOpen Targets
0.10Weak
Abruptio PlacentaeOpen Targets
0.10Suggestive
nerve plexus diseaseOpen Targets
0.10Suggestive
Abnormal nasolacrimal system morphologyOpen Targets
0.09Suggestive
frozen shoulderOpen Targets
0.09Suggestive
Familial exudative vitreoretinopathyOpen Targets
0.05Suggestive
familial hypercholesterolemiaOpen Targets
0.04Suggestive
retinitis pigmentosaOpen Targets
0.04Suggestive
Genetic hyperferritinemia without iron overloadOpen Targets
0.04Suggestive
Combined hyperlipidemiaOpen Targets
0.04Suggestive
hereditary hyperferritinemia with congenital cataractsOpen Targets
0.04Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
ZNG1FShared pathway100%ZNG1CShared pathway100%CISD3Shared pathway100%ZNG1EShared pathway100%IBA57Shared pathway100%ZNG1BShared pathway100%
Tissue Expression6 tissues
Ovary
100%
Heart
88%
Brain
69%
Liver
57%
Lung
38%
Bone Marrow
23%
Gene Interaction Network
Click a node to explore
YAE1ZNG1FZNG1CCISD3ZNG1EIBA57ZNG1B
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt Q9NRH1
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.27LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.90 [0.65–1.27]
RankingsWhere YAE1 stands among ~20K protein-coding genes
  • #13,347of 20,598
    Most Researched24
  • #13,359of 17,882
    Most Constrained (LOEUF)1.27
Genes detectedYAE1
Sources retrieved5 papers
Response time—
📄 Sources
5
1
The deca-GX3 proteins Yae1-Lto1 function as adaptors recruiting the ABC protein Rli1 for iron-sulfur cluster insertion.
PMID: 26182403
Elife · 2015
1.00
2
PMID: 41502527
Oncol Res · 2025
0.80
3
LTO1 and YAE1 regulate MHC-I expression via nonsense-mediated RNA decay in tumor cells.
PMID: 40987494
J Immunother Cancer · 2025
0.60
4
In silico analysis of genomic landscape of SARS-CoV-2 and its variant of concerns (Delta and Omicron) reveals changes in the coding potential of miRNAs and their target genes.
PMID: 36470485
Gene · 2023
0.40
5
The function of ORAOV1/LTO1, a gene that is overexpressed frequently in cancer: essential roles in the function and biogenesis of the ribosome.
PMID: 23318452
Oncogene · 2014
0.20