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Aliases for MOCOS Gene

Aliases for MOCOS Gene

  • Molybdenum Cofactor Sulfurase 2 3 5
  • HMCS 3 4
  • MCS 3 4
  • MOS 3 4
  • Molybdenum Cofactor Sulfurtransferase 4
  • MoCo Sulfurase 4
  • EC 2.8.1.9 4

External Ids for MOCOS Gene

Previous GeneCards Identifiers for MOCOS Gene

  • GC18P032019
  • GC18P032021
  • GC18P033767
  • GC18P030626

Summaries for MOCOS Gene

Entrez Gene Summary for MOCOS Gene

  • MOCOS sulfurates the molybdenum cofactor of xanthine dehydrogenase (XDH; MIM 607633) and aldehyde oxidase (AOX1; MIM 602841), which is required for their enzymatic activities (Ichida et al., 2001 [PubMed 11302742]).[supplied by OMIM, Feb 2010]

GeneCards Summary for MOCOS Gene

MOCOS (Molybdenum Cofactor Sulfurase) is a Protein Coding gene. Diseases associated with MOCOS include xanthinuria type 2 and xanthinuria. Among its related pathways are Metabolism and Metabolism of water-soluble vitamins and cofactors. GO annotations related to this gene include transferase activity and lyase activity. An important paralog of this gene is MARC1.

UniProtKB/Swiss-Prot for MOCOS Gene

  • 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.

Gene Wiki entry for MOCOS Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MOCOS Gene

Genomics for MOCOS Gene

Regulatory Elements for MOCOS Gene

Enhancers for MOCOS Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around MOCOS on UCSC Golden Path with GeneCards custom track

Promoters for MOCOS Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around MOCOS on UCSC Golden Path with GeneCards custom track

Genomic Location for MOCOS Gene

Chromosome:
18
Start:
36,187,517 bp from pter
End:
36,272,157 bp from pter
Size:
84,641 bases
Orientation:
Plus strand

Genomic View for MOCOS Gene

Genes around MOCOS on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MOCOS Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MOCOS Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MOCOS Gene

Proteins for MOCOS Gene

  • Protein details for MOCOS Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96EN8-MOCOS_HUMAN
    Recommended name:
    Molybdenum cofactor sulfurase
    Protein Accession:
    Q96EN8
    Secondary Accessions:
    • Q53GP5
    • Q8N3A4
    • Q9NWM7

    Protein attributes for MOCOS Gene

    Size:
    888 amino acids
    Molecular mass:
    98120 Da
    Cofactor:
    Name=pyridoxal 5-phosphate; Xref=ChEBI:CHEBI:597326;
    Quaternary structure:
    No Data Available

neXtProt entry for MOCOS Gene

Proteomics data for MOCOS Gene at MOPED

Post-translational modifications for MOCOS Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for MOCOS Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for MOCOS Gene

Domains & Families for MOCOS Gene

Suggested Antigen Peptide Sequences for MOCOS Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q96EN8

UniProtKB/Swiss-Prot:

MOCOS_HUMAN :
  • Contains 1 MOSC domain.
  • Belongs to the class-V pyridoxal-phosphate-dependent aminotransferase family. MOCOS subfamily.
Domain:
  • Contains 1 MOSC domain.
Family:
  • Belongs to the class-V pyridoxal-phosphate-dependent aminotransferase family. MOCOS subfamily.
genes like me logo Genes that share domains with MOCOS: view

No data available for Gene Families for MOCOS Gene

Function for MOCOS Gene

Molecular function for MOCOS Gene

UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=15 uM for benzamidoxime {ECO:0000269 PubMed:16973608}; Vmax=0.24 nmol/min/mg enzyme {ECO:0000269 PubMed:16973608};
UniProtKB/Swiss-Prot CatalyticActivity:
Molybdenum cofactor + L-cysteine + reduced acceptor + 2 H(+) = thio-molybdenum cofactor + L-alanine + H(2)O + oxidized acceptor.
UniProtKB/Swiss-Prot 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.

Enzyme Numbers (IUBMB) for MOCOS Gene

Gene Ontology (GO) - Molecular Function for MOCOS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008265 Mo-molybdopterin cofactor sulfurase activity TAS --
GO:0030170 pyridoxal phosphate binding IEA --
genes like me logo Genes that share ontologies with MOCOS: view

Phenotypes for MOCOS Gene

GenomeRNAi human phenotypes for MOCOS:
genes like me logo Genes that share phenotypes with MOCOS: view

Animal Model Products

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for MOCOS Gene

Localization for MOCOS Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for MOCOS Gene COMPARTMENTS Subcellular localization image for MOCOS gene
Compartment Confidence
cytosol 5
nucleus 3
mitochondrion 1
peroxisome 1

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for MOCOS Gene

Pathways & Interactions for MOCOS Gene

genes like me logo Genes that share pathways with MOCOS: view

Pathways by source for MOCOS Gene

Gene Ontology (GO) - Biological Process for MOCOS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006777 Mo-molybdopterin cofactor biosynthetic process IEA --
GO:0032324 molybdopterin cofactor biosynthetic process TAS --
GO:0043545 molybdopterin cofactor metabolic process IMP 11302742
genes like me logo Genes that share ontologies with MOCOS: view

No data available for SIGNOR curated interactions for MOCOS Gene

Drugs & Compounds for MOCOS Gene

(5) Drugs for MOCOS Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
L-Alanine Approved Nutra Full agonist, Agonist Glycine receptor agonist 0
L-Cysteine Approved Nutra 0
Pyridoxal Phosphate Nutra Target, cofactor 14
Molybdenum Pharma 28

(5) Additional Compounds for MOCOS Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Hydrogen Ion
  • Hydrogen cation
  • Hydron
  • Proton
molybdopterin
  • MoCo
  • Molybdenum cofactor
  • Molybdenum enzyme molybdenum cofactor
  • Molybdoenzyme molybdenum-containing cofactor
  • Nitrate reductase molybdenum cofactor
73508-07-3
Water
  • Dihydrogen oxide
  • Steam
7732-18-5
genes like me logo Genes that share compounds with MOCOS: view

Transcripts for MOCOS Gene

mRNA/cDNA for MOCOS Gene

Unigene Clusters for MOCOS Gene

Molybdenum cofactor sulfurase:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for MOCOS Gene

No ASD Table

Relevant External Links for MOCOS Gene

GeneLoc Exon Structure for
MOCOS
ECgene alternative splicing isoforms for
MOCOS

Expression for MOCOS Gene

mRNA expression in normal human tissues for MOCOS Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for MOCOS Gene

This gene is overexpressed in Liver (x10.0) and Adrenal Gland (x6.8).

Protein differential expression in normal tissues from HIPED for MOCOS Gene

This gene is overexpressed in Lung (27.5), Adrenal (25.4), and Liver (9.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for MOCOS Gene



SOURCE GeneReport for Unigene cluster for MOCOS Gene Hs.405028

genes like me logo Genes that share expression patterns with MOCOS: view

Protein tissue co-expression partners for MOCOS Gene

Primer Products

No data available for mRNA Expression by UniProt/SwissProt for MOCOS Gene

Orthologs for MOCOS Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for MOCOS Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia MOCOS 35
  • 82.99 (n)
  • 80.12 (a)
MOCOS 36
  • 79 (a)
OneToOne
dog
(Canis familiaris)
Mammalia MOCOS 35
  • 83.86 (n)
  • 80.75 (a)
MOCOS 36
  • 80 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Mocos 35
  • 80.2 (n)
  • 76.78 (a)
Mocos 16
Mocos 36
  • 76 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia MOCOS 35
  • 99.4 (n)
  • 99.1 (a)
MOCOS 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Mocos 35
  • 80.04 (n)
  • 77.2 (a)
oppossum
(Monodelphis domestica)
Mammalia MOCOS 36
  • 65 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MOCOS 36
  • 62 (a)
OneToOne
chicken
(Gallus gallus)
Aves MOCOS 35
  • 65.71 (n)
  • 63.92 (a)
MOCOS 36
  • 61 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MOCOS 36
  • 54 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii mocos 35
  • 55.47 (n)
  • 53.11 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta MOCOS_ANOGA 35
  • 50.71 (n)
  • 44.87 (a)
fruit fly
(Drosophila melanogaster)
Insecta mal 35
  • 50.5 (n)
  • 45.11 (a)
mal 36
  • 38 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea mocs-1 35
  • 47.08 (n)
  • 45.32 (a)
mocs-1 36
  • 35 (a)
OneToOne
thale cress
(Arabidopsis thaliana)
eudicotyledons ABA3 35
  • 47.74 (n)
  • 40.49 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 41 (a)
OneToOne
Species with no ortholog for MOCOS:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for MOCOS Gene

ENSEMBL:
Gene Tree for MOCOS (if available)
TreeFam:
Gene Tree for MOCOS (if available)

Paralogs for MOCOS Gene

Paralogs for MOCOS Gene

genes like me logo Genes that share paralogs with MOCOS: view

Variants for MOCOS Gene

Sequence variations from dbSNP and Humsavar for MOCOS Gene

SNP ID Clin Chr 18 pos Sequence Context AA Info Type
VAR_027528 Xanthinuria 2 (XU2)
rs3744900 - 36,199,742(+) CGGGA(A/G)CACGG reference, missense
rs623053 - 36,199,892(+) ATCCA(C/T)CCCGG reference, missense
rs540967 - 36,199,933(+) AACGT(A/G)GTGCT reference, missense
rs623558 - 36,200,057(+) GTTGC(A/G/T)CCCTG reference, missense

Structural Variations from Database of Genomic Variants (DGV) for MOCOS Gene

Variant ID Type Subtype PubMed ID
esv987550 CNV Deletion 20482838
nsv522803 CNV Loss 19592680
esv268498 CNV Insertion 20981092
nsv130568 CNV Loss 16902084
esv2667651 CNV Deletion 23128226
nsv909539 CNV Gain 21882294

Variation tolerance for MOCOS Gene

Residual Variation Intolerance Score: 83.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 12.09; 93.81% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for MOCOS Gene

HapMap Linkage Disequilibrium report
MOCOS
Human Gene Mutation Database (HGMD)
MOCOS

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MOCOS Gene

Disorders for MOCOS Gene

MalaCards: The human disease database

(3) MalaCards diseases for MOCOS Gene - From: Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
xanthinuria type 2
  • type 2 xanthinuria
xanthinuria
  • xanthinuria, type i
purine-pyrimidine metabolic disorder
  • inborn errors of purine-pyrimidine metabolism
- elite association - COSMIC cancer census association via MalaCards
Search MOCOS in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

MOCOS_HUMAN
  • Xanthinuria 2 (XU2) [MIM:603592]: A disorder 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, patients suffering of xanthinuria 2 cannot metabolize allopurinol into oxypurinol due to dual deficiency of xanthine dehydrogenase and aldehyde oxidase. {ECO:0000269 PubMed:11302742, ECO:0000269 PubMed:14624414, ECO:0000269 PubMed:17368066, ECO:0000269 Ref.11}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for MOCOS

Genetic Association Database (GAD)
MOCOS
Human Genome Epidemiology (HuGE) Navigator
MOCOS
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
MOCOS
genes like me logo Genes that share disorders with MOCOS: view

No data available for Genatlas for MOCOS Gene

Publications for MOCOS Gene

  1. Mutation of human molybdenum cofactor sulfurase gene is responsible to classical xanthinuria type II. (PMID: 11302742) Ichida K. … Nishino T. (Biochem. Biophys. Res. Commun. 2001) 2 3 4 23 67
  2. Novel pharmacogenetic markers for treatment outcome in azathioprine-treated inflammatory bowel disease. (PMID: 19500084) Smith M.A. … Sanderson J.D. (Aliment. Pharmacol. Ther. 2009) 3 23
  3. Identification and characterization of the first mutation (Arg776Cys) in the C-terminal domain of the human molybdenum cofactor sulfurase (HMCS) associated with type II classical xanthinuria. (PMID: 17368066) Peretz H. … Landau D. (Mol. Genet. Metab. 2007) 3 23
  4. MOSC domains: ancient, predicted sulfur-carrier domains, present in diverse metal-sulfur cluster biosynthesis proteins including Molybdenum cofactor sulfurases. (PMID: 11886751) Anantharaman V. … Aravind L. (FEMS Microbiol. Lett. 2002) 23 25
  5. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3

Products for MOCOS Gene

Sources for MOCOS Gene

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