MOCS3 (molybdenum cofactor synthesis 3)

2014-11-01  

Identity

HGNC
LOCATION
20q13.13
LOCUSID
ALIAS
UBA4

Other Information

Locus ID:

NCBI: 27304
MIM: 609277
HGNC: 15765
Ensembl: ENSG00000124217

Variants:

dbSNP: 27304
ClinVar: 27304
TCGA: ENSG00000124217
COSMIC: MOCS3

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000124217ENST00000244051O95396

Expression (GTEx)

0
5
10
15

Pathways

PathwaySourceExternal ID
Sulfur relay systemKEGGko04122
Sulfur relay systemKEGGhsa04122
MetabolismREACTOMER-HSA-1430728
Metabolism of vitamins and cofactorsREACTOMER-HSA-196854
Metabolism of water-soluble vitamins and cofactorsREACTOMER-HSA-196849
Molybdenum cofactor biosynthesisREACTOMER-HSA-947581

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
186504372008A novel role for human Nfs1 in the cytoplasm: Nfs1 acts as a sulfur donor for MOCS3, a protein involved in molybdenum cofactor biosynthesis.55
184919212008The sulfurtransferase activity of Uba4 presents a link between ubiquitin-like protein conjugation and activation of sulfur carrier proteins.40
150733322004Evidence for the physiological role of a rhodanese-like protein for the biosynthesis of the molybdenum cofactor in humans.32
159100062005Molybdenum cofactor biosynthesis in humans: identification of a persulfide group in the rhodanese-like domain of MOCS3 by mass spectrometry.20
224539202012Dual role of the molybdenum cofactor biosynthesis protein MOCS3 in tRNA thiolation and molybdenum cofactor biosynthesis in humans.17
174590992007Site-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.14
257473902015Urmylation and tRNA thiolation functions of ubiquitin-like Uba4·Urm1 systems are conserved from yeast to man.12
269175782016Exome-wide analysis of rare coding variation identifies novel associations with COPD and airflow limitation in MOCS3, IFIT3 and SERPINA12.8
285447362017Molybdenum cofactor deficiency: Identification of a patient with homozygote mutation in the MOCS3 gene.5
308171342019Analysis of the Cellular Roles of MOCS3 Identifies a MOCS3-Independent Localization of NFS1 at the Tips of the Centrosome.1

Citation

Dessen P

MOCS3 (molybdenum cofactor synthesis 3)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/70363/mocs3