MOCOS (molybdenum cofactor sulfurase)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
55034
Gene name Gene Name - the full gene name approved by the HGNC.
Molybdenum cofactor sulfurase
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
MOCOS
Synonyms (NCBI Gene) Gene synonyms aliases
HMCS, MCS, MOS
Chromosome Chromosome number
18
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
18q12.2
Summary Summary of gene provided in NCBI Entrez Gene.
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
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(3)
SNP ID Visualize variation Clinical significance Consequence
rs750896617 C>A,T Pathogenic Coding sequence variant, missense variant
rs886037854 G>C Pathogenic Coding sequence variant, missense variant
rs886037855 ->A Pathogenic Coding sequence variant, frameshift variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(51)
miRTarBase ID miRNA Experiments Reference
MIRT018645 hsa-miR-335-5p Microarray 18185580
MIRT641549 hsa-miR-1911-3p HITS-CLIP 23824327
MIRT641548 hsa-miR-1226-3p HITS-CLIP 23824327
MIRT641547 hsa-miR-4733-3p HITS-CLIP 23824327
MIRT641546 hsa-miR-6773-3p HITS-CLIP 23824327
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(13)
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 21516116, 25416956, 28514442, 32296183
GO:0005575 Component Cellular_component ND
GO:0005829 Component Cytosol TAS
GO:0006777 Process Mo-molybdopterin cofactor biosynthetic process IEA
GO:0008265 Function Mo-molybdopterin cofactor sulfurase activity IBA 21873635
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
613274 18234 ENSG00000075643
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Q96EN8
Protein name Molybdenum cofactor sulfurase (MCS) (MOS) (MoCo sulfurase) (hMCS) (EC 2.8.1.9) (Molybdenum cofactor sulfurtransferase)
Protein function Sulfurates the molybdenum cofactor (PubMed:34356852). 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
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00266 Aminotran_5 50 → 481 Aminotransferase class-V Domain
PF03476 MOSC_N 582 → 701 MOSC N-terminal beta barrel domain Domain
PF03473 MOSC 729 → 865 MOSC domain Domain
Sequence 
MAGAAAESGRELWTFAGSRDPSAPRLAYGYGPGSLRELRAREFSRLAGTVYLDHAGATLF
SQSQLESFTSDLMENTYGNPHSQNISSKLTHDTVEQVRYRILAHFHTTAEDYTVIFTAGS
TAALKLVAEAFPWVSQGPESSGSRFCYLTDSHTSVVGMRNVTMAINVISTPVRPEDLWSA
EERSASASNPDCQLPHLFCYPAQSNFSGVRYPLSWIEEVKSGRLHPVSTPGKWFVLLDAA
SYVSTSPLDLSAHQADFVPISFYKIFGFPTGLGALLVHNRAAPLLRKTYFGGGTASAYLA
GEDFYIPRQSVAQRFEDGTISFLDVIALKHGFDTLERLTGGMENIKQHTFTLAQYTYVAL
SSLQYPNGAPVVRIYSDSEFSSPEVQGPIINFNVLDDKGNIIGYSQVDKMASLYNIHLRT
GCFCNTGACQRHLGISNEMVRKHFQAGHVCGDNMDLIDGQPTGSVRISFGYMSTLDDVQA
FLRFIIDTRLHSSGDWPVPQAHADTGETGAPSADSQADVIPAVMGRRSLSPQEDALTGSR
VWNNSSTVNAVPVAPPVCDVARTQPTPSEKAAGVLEGALGPHVVTNLYLYPIKSCAAFEV
TRWPVGNQGLLYDRSWMVVNHNGVCLSQKQEPRLCLIQPFIDLRQRIMVIKAKGMEPIEV
PLEENSERTQIRQSRVCADRVSTYDCGEKISSWLSTFFGRPCHLIKQSSNSQRNAKKKHG
KDQLPGTMATLSLVNEAQYLLINTSSILELHRQLNTSDENGKEELFSLKDLSLRFRANII
INGKRAFEEEKWDEISIGSLRFQVLGPCHRCQMICIDQQTGQRNQHVFQKLSESRETKVN
FGMYLMHASLDLSSPCFLSVGSQVLPVLKENVEGHDLPASEKHQDVTS
Sequence length 888
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG   Reactome
  Folate biosynthesis
Metabolic pathways 		  Molybdenum cofactor biosynthesis
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (3)
Causal
Disease term Disease name dbSNP ID References
Pancytopenia Pancytopenia rs869312883, rs770551610, rs1131690788, rs530073586, rs374333820 29935280
Vasculitis Vasculitis rs376785840, rs587777240, rs200930463, rs587777241, rs77563738, rs202134424, rs148936893, rs587777242, rs775440641, rs770689762, rs45511697, rs139750129, rs756881285, rs747774101, rs1568966771
View all (6 more)		 29935280
Xanthinuria Xanthinuria, Type II, Xanthinuria type II rs119460972, rs142150953, rs886037854, rs750896617, rs886037855, rs751921838, rs376882470, rs760186813, rs1558674294, rs773456900 29935280, 17368066, 14624414, 11302742
Show/Hide Text Mining Associations (6)
Associations from Text Mining
Disease Name Relationship Type References
Autism Spectrum Disorder Associate 32327736, 38287090
Drug Related Side Effects and Adverse Reactions Associate 30927276
Neutropenia Associate 30927276
Renal hypouricemia Associate 25967871
Schizophrenia Associate 34099189
Xanthinuria Type II Associate 25967871