Human Gene MOCOS (ENST00000261326.6) from GENCODE V44
Description: Homo sapiens molybdenum cofactor sulfurase (MOCOS), mRNA. (from RefSeq NM_017947) RefSeq Summary (NM_017947): This gene encodes an enzyme that sulfurates the molybdenum cofactor which is required for activation of the xanthine dehydrogenase (XDH) and aldehyde oxidase (AO) enzymes. XDH catalyzes the conversion of hypoxanthine to uric acid via xanthine, as well as the conversion of allopurinol to oxypurinol, and pyrazinamide to 5-hydroxy pyrazinamide. Mutations in this gene cause the metabolic disorder classical xanthinuria type II which is characterized by the loss of XDH/XO and AO enzyme activity, decreased levels of uric acid in the urine, increased levels of xanthine and hypoxanthine in the serum and urine, formation of xanthine stones in the urinary tract, and myositis due to tissue deposition of xanthine. [provided by RefSeq, Apr 2017]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. Gencode Transcript: ENST00000261326.6 Gencode Gene: ENSG00000075643.6 Transcript (Including UTRs) Position: hg38 chr18:36,187,497-36,272,157 Size: 84,661 Total Exon Count: 15 Strand: + Coding Region Position: hg38 chr18:36,187,540-36,268,685 Size: 81,146 Coding Exon Count: 15
ID:MOCOS_HUMAN DESCRIPTION: RecName: Full=Molybdenum cofactor sulfurase; Short=MCS; Short=MOS; Short=MoCo sulfurase; Short=hMCS; EC=2.8.1.9; FUNCTION: Sulfurates the molybdenum cofactor. Sulfation of molybdenum is essential for xanthine dehydrogenase (XDH) and aldehyde oxidase (ADO) enzymes in which molybdenum cofactor is liganded by 1 oxygen and 1 sulfur atom in active form. In vitro, the C-terminal domain is able to reduce N-hydroxylated prodrugs, such as benzamidoxime. CATALYTIC ACTIVITY: Molybdenum cofactor + L-cysteine + 2 H(+) = thio-molybdenum cofactor + L-alanine + H(2)O. COFACTOR: Pyridoxal phosphate (By similarity). BIOPHYSICOCHEMICAL PROPERTIES: Kinetic parameters: KM=15 uM for benzamidoxime; Vmax=0.24 nmol/min/mg enzyme; DISEASE: Defects in MOCOS are the cause of xanthinuria type 2 (XU2) [MIM:603592]. Xanthinuria is characterized by excretion of very large amounts of xanthine in the urine and a tendency to form xanthine stones. Uric acid is strikingly diminished in serum and urine. In addition, patient suffering of XU2 cannot metabolize allopurinol into oxypurinol due to dual deficiency of xanthine dehydrogenase and aldehyde oxidase. SIMILARITY: Belongs to the class-V pyridoxal-phosphate-dependent aminotransferase family. MOCOS subfamily. SIMILARITY: Contains 1 MOSC domain.
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q96EN8
Front
Top
Side
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.
Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.