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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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MOCS3
molybdenum cofactor synthesis 3
Chromosome 20 · 20q13.13
NCBI Gene: 27304Ensembl: ENSG00000124217.5HGNC: HGNC:15765UniProt: O95396
39PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
tRNA thio-modificationmolybdopterin-synthase sulfurtransferase activityprotein bindingtRNA wobble uridine modificationneurodegenerative diseaseNon-immune hydrops fetalisprostate carcinomaHallux valgus
✦AI Summary

MOCS3 (molybdenum cofactor synthesis 3) is a dual-function protein essential for two critical cellular processes: tRNA thiolation and molybdenum cofactor (Moco) biosynthesis 1. The protein contains an N-terminal adenylation domain and a C-terminal rhodanese-like domain that work together to activate sulfur carrier proteins URM1 and MOCS2A through adenylation and subsequent persulfide sulfur transfer, generating thiocarboxylated C-termini 1. In tRNA modification, MOCS3 catalyzes 2-thiolation of mcm(5)S(2)U at wobble positions in cytosolic tRNAs 1. In Moco biosynthesis, MOCS3 mediates thiocarboxylation of MOCS2A, the small molybdopterin synthase subunit, which is critical for the three-step Moco synthesis pathway 2. Unlike bacterial homologs, eukaryotic MOCS3 does not use thiosulfate as its primary sulfur donor; instead, NFS1 provides the persulfide sulfur 3. Loss of MOCS3 function contributes to molybdenum cofactor deficiency, a severe neonatal disorder causing myoclonic seizures and encephalopathy due to sulfite oxidase dysfunction 4. Additionally, MOCS3 variants have been associated with chr20 obstructive pulmonary disease susceptibility 5, and the gene has been implicated in oncogene-induced replication stress in cancer 6.

Sources cited
1
MOCS3 dual role in tRNA thiolation and molybdenum cofactor biosynthesis; mechanism of URM1 and MOCS2A activation and thiocarboxylation
PMID: 22453920
2
MOCS3 rhodanese-like domain catalyzes sulfur transfer for MOCS2A thiocarboxylation in molybdopterin synthase; importance of active-site cysteine C412
PMID: 15073332
3
Eukaryotic MOCS3 does not use thiosulfate as physiologic sulfur donor; differences between eukaryotic and bacterial homologs
PMID: 17459099
4
MOCS3 involvement in molybdenum cofactor deficiency causing neonatal myoclonic epileptic encephalopathy and dystonia
PMID: 36296488
5
MOCS3 variants associated with chronic obstructive pulmonary disease risk and airflow limitation
PMID: 26917578
6
MOCS3 identified as part of gene signature for oncogene-induced replication stress in cancer
PMID: 35091678
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.20Weak
Non-immune hydrops fetalisOpen Targets
0.11Weak
prostate carcinomaOpen Targets
0.04Suggestive
Hallux valgusOpen Targets
0.03Suggestive
spinal cord injuryOpen Targets
0.03Suggestive
ulcerative colitisOpen Targets
0.03Suggestive
ParasomniaOpen Targets
0.03Suggestive
metabolic syndrome XOpen Targets
0.03Suggestive
trauma complicationOpen Targets
0.02Suggestive
KeloidOpen Targets
0.02Suggestive
ThyrotoxicosisOpen Targets
0.02Suggestive
kidney diseaseOpen Targets
0.02Suggestive
chronic obstructive pulmonary diseaseOpen Targets
0.01Suggestive
hyperinsulinemic hypoglycemia, familial, 4Open Targets
0.01Suggestive
sulfite oxidase deficiency due to molybdenum cofactor deficiencyOpen Targets
0.01Suggestive
neoplasmOpen Targets
0.00Suggestive
cancerOpen Targets
0.00Suggestive
colorectal carcinomaOpen Targets
0.00Suggestive
EncephalopathyOpen Targets
0.00Suggestive
osteosarcomaOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
TSTProtein interaction100%NFS1Protein interaction99%MPSTProtein interaction99%URM1Protein interaction81%ELP3Protein interaction78%MOCS1Protein interaction75%
Tissue Expression6 tissues
Brain
100%
Liver
89%
Heart
69%
Ovary
62%
Lung
43%
Bone Marrow
33%
Gene Interaction Network
Click a node to explore
MOCS3TSTNFS1MPSTURM1ELP3MOCS1
PROTEIN STRUCTURE
Preparing viewer…
PDB3I2V · 1.25 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.70LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF1.01 [0.60–1.70]
RankingsWhere MOCS3 stands among ~20K protein-coding genes
  • #10,356of 20,598
    Most Researched39
  • #16,084of 17,882
    Most Constrained (LOEUF)1.70
Genes detectedMOCS3
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
3-Mercaptopyruvate sulfur transferase is a protein persulfidase.
PMID: 36732619
Nat Chem Biol · 2023
1.00
2
Site-directed mutagenesis of the active site loop of the rhodanese-like domain of the human molybdopterin synthase sulfurase MOCS3. Major differences in substrate specificity between eukaryotic and bacterial homologs.
PMID: 17459099
FEBS J · 2007
0.90
3
Molybdenum Cofactor Deficiency in Humans.
PMID: 36296488
Molecules · 2022
0.80
4
Exome-wide analysis of rare coding variation identifies novel associations with COPD and airflow limitation in MOCS3, IFIT3 and SERPINA12.
PMID: 26917578
Thorax · 2016
0.70
5
Dual role of the molybdenum cofactor biosynthesis protein MOCS3 in tRNA thiolation and molybdenum cofactor biosynthesis in humans.
PMID: 22453920
J Biol Chem · 2012
0.60