Gene Gene information from NCBI Gene database.
Entrez ID 27304
Gene name Molybdenum cofactor synthesis 3
Gene symbol MOCS3
Synonyms (NCBI Gene)
UBA4
Chromosome 20
Chromosome location 20q13.13
Summary Molybdenum cofactor (MoCo) is necessary for the function of all molybdoenzymes. The protein encoded by this gene adenylates and activates molybdopterin synthase, an enzyme required for biosynthesis of MoCo. This gene contains no introns. A pseudogene of t
miRNA miRNA information provided by mirtarbase database.
411
miRTarBase ID miRNA Experiments Reference
MIRT047768 hsa-miR-7-5p CLASH 23622248
MIRT685932 hsa-miR-490-3p HITS-CLIP 23313552
MIRT685931 hsa-miR-7851-3p HITS-CLIP 23313552
MIRT685930 hsa-miR-4459 HITS-CLIP 23313552
MIRT650374 hsa-miR-3192-5p HITS-CLIP 23313552
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
39
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0002098 Process TRNA wobble uridine modification IDA 19017811
GO:0002098 Process TRNA wobble uridine modification IEA
GO:0002143 Process TRNA wobble position uridine thiolation IBA
GO:0002143 Process TRNA wobble position uridine thiolation IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
609277 15765 ENSG00000124217
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O95396
Protein name Adenylyltransferase and sulfurtransferase MOCS3 (Molybdenum cofactor synthesis protein 3) (Molybdopterin synthase sulfurylase) (MPT synthase sulfurylase) [Includes: Molybdopterin-synthase adenylyltransferase (EC 2.7.7.80) (Adenylyltransferase MOCS3) (Sulf
Protein function Plays a central role in 2-thiolation of mcm(5)S(2)U at tRNA wobble positions of cytosolic tRNA(Lys), tRNA(Glu) and tRNA(Gln) (PubMed:19017811, PubMed:22453920, PubMed:30817134). Also essential during biosynthesis of the molybdenum cofactor (PubM
PDB 3I2V
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00899 ThiF 63 300 ThiF family Domain
PF00581 Rhodanese 337 452 Rhodanese-like domain Domain
Sequence
Sequence length 460
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Sulfur relay system   Molybdenum cofactor biosynthesis
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
6
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
BIPOLAR DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
EBV-positive nodal T- and NK-cell lymphoma Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
HYDROPS FETALIS, NON-IMMUNE Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
MOCS3-related disorder Likely benign; Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Pulmonary Disease Chronic Obstructive Chronic obstructive pulmonary disease Pubtator 26917578 Associate
★☆☆☆☆
Found in Text Mining only