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Aliases for MOCOS Gene

Aliases for MOCOS Gene

  • Molybdenum Cofactor Sulfurase 2 3 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

  • 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]

GeneCards Summary for MOCOS Gene

MOCOS (Molybdenum Cofactor Sulfurase) is a Protein Coding gene. Diseases associated with MOCOS include Xanthinuria, Type Ii and Xanthinuria. Among its related pathways are Folate biosynthesis and Metabolism. Gene Ontology (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

Additional gene information for MOCOS Gene

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

Genomics for MOCOS Gene

GeneHancer (GH) Regulatory Elements for MOCOS Gene

Promoters and enhancers for MOCOS Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH18J036186 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 664.5 +0.6 588 3.1 HDGF SMAD1 ATF1 ARID4B SIN3A YY1 GLIS2 ZFP91 FOS ATF7 MOCOS ENSG00000274849 LOC101927809 ELP2 LOC791126
GH18J036127 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 9.4 -57.0 -56983 5.2 CLOCK MLX DMAP1 YY1 SLC30A9 ZNF213 E2F8 ZNF143 SP3 NFYC ELP2 SLC39A6 ENSG00000268573 ZNF397 KIAA1328 LOC101927809 MOCOS LOC791126 PIR50550
GH18J036149 Enhancer 0.9 Ensembl ENCODE 20.9 -35.2 -35213 4.9 TAF1 IRF4 RAD21 YY1 POLR2A BCLAF1 SRF RXRA REST MEF2B ELP2 MOCOS LOC791126 PIR50550 SLC39A6
GH18J036175 Enhancer 1.2 ENCODE dbSUPER 11.2 -11.1 -11138 2.7 FOXA2 MLX ARID4B DMAP1 BRCA1 ETS1 YY1 SLC30A9 GATA2 ATF7 GC18P036175 ELP2 MOCOS LOC101927809
GH18J036075 Enhancer 1.1 Ensembl ENCODE 10.7 -111.4 -111412 1.3 ELF3 PKNOX1 FOXA2 NFRKB SIN3A ATF7 FOS IKZF2 RUNX3 THAP11 ZNF397 ELP2 RPRD1A ENSG00000268573 MOCOS FHOD3 ENSG00000267583 C18orf21 GC18P036078
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MOCOS on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the MOCOS gene promoter:
  • NRSF form 2
  • NRSF form 1
  • POU2F1a
  • POU2F1
  • Ik-2
  • Lmo2
  • ARP-1
  • AP-1
  • c-Fos
  • c-Jun

Genomic Locations for MOCOS Gene

Genomic Locations for MOCOS Gene
chr18:36,187,517-36,272,157
(GRCh38/hg38)
Size:
84,641 bases
Orientation:
Plus strand
chr18:33,767,480-33,852,120
(GRCh37/hg19)
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

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

Gene Families for MOCOS Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted intracellular proteins

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

Function for MOCOS Gene

Molecular function for MOCOS Gene

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.
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 BiophysicochemicalProperties:
Kinetic parameters: KM=15 uM for benzamidoxime {ECO:0000269 PubMed:16973608}; Vmax=0.24 nmol/min/mg enzyme {ECO:0000269 PubMed:16973608};

Enzyme Numbers (IUBMB) for MOCOS Gene

Phenotypes From GWAS Catalog for MOCOS Gene

Gene Ontology (GO) - Molecular Function for MOCOS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 21516116
GO:0008265 Mo-molybdopterin cofactor sulfurase activity TAS --
GO:0016740 transferase activity IEA --
GO:0030151 molybdenum ion binding IEA --
GO:0030170 pyridoxal phosphate binding IEA --
genes like me logo Genes that share ontologies with MOCOS: view
genes like me logo Genes that share phenotypes with MOCOS: view

Human Phenotype Ontology for MOCOS Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

Clone Products

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

Localization for MOCOS Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MOCOS gene
Compartment Confidence
cytosol 5
nucleus 3
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Mitochondria (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for MOCOS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005575 cellular_component ND --
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with MOCOS: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot 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

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Pyridoxal Phosphate Approved, Investigational Nutra Target, cofactor 17
Molybdenum Approved Pharma 31
Water Approved Pharma 0
L-Alanine Approved Nutra Full agonist, Agonist Glycine receptor agonist 0
L-Cysteine Approved Nutra 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Hydrogen Ion
  • H+
  • H(+)
  • Hydrogen cation
  • Hydron
  • Proton
genes like me logo Genes that share compounds with MOCOS: view

Transcripts for MOCOS Gene

mRNA/cDNA for MOCOS Gene

(1) REFSEQ mRNAs :
(4) Additional mRNA sequences :
(37) Selected AceView cDNA sequences:
(2) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for MOCOS Gene

Molybdenum cofactor sulfurase:
Representative Sequences:

Clone Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for MOCOS Gene



Protein tissue co-expression partners for MOCOS Gene

NURSA nuclear receptor signaling pathways regulating expression of MOCOS Gene:

MOCOS

SOURCE GeneReport for Unigene cluster for MOCOS Gene:

Hs.405028

Evidence on tissue expression from TISSUES for MOCOS Gene

  • Liver(4.3)
  • Lung(4)
genes like me logo Genes that share expression patterns with MOCOS: view

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer 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
chimpanzee
(Pan troglodytes)
Mammalia MOCOS 34 33
  • 99.4 (n)
OneToOne
dog
(Canis familiaris)
Mammalia MOCOS 34 33
  • 83.86 (n)
OneToOne
cow
(Bos Taurus)
Mammalia MOCOS 34 33
  • 82.99 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Mocos 16 34 33
  • 80.2 (n)
rat
(Rattus norvegicus)
Mammalia Mocos 33
  • 80.04 (n)
oppossum
(Monodelphis domestica)
Mammalia MOCOS 34
  • 65 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MOCOS 34
  • 62 (a)
OneToOne
chicken
(Gallus gallus)
Aves MOCOS 34 33
  • 65.71 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MOCOS 34
  • 54 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii mocos 33
  • 55.47 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta MOCOS_ANOGA 33
  • 50.71 (n)
fruit fly
(Drosophila melanogaster)
Insecta mal 34 33
  • 50.5 (n)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea mocs-1 34 33
  • 47.08 (n)
OneToOne
thale cress
(Arabidopsis thaliana)
eudicotyledons ABA3 33
  • 47.74 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 41 (a)
OneToOne
Species where no ortholog for MOCOS was found in the sources mined by GeneCards:
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for MOCOS: view image

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 Variation AA Info Type
rs142150953 pathogenic, Xanthinuria type 2 36,213,402(+) C/A/T coding_sequence_variant, stop_gained, synonymous_variant
rs577279030 Xanthinuria 2 (XAN2) [MIM:603592] 36,200,264(+) C/T coding_sequence_variant, missense_variant
rs750896617 pathogenic, Xanthinuria type 2, Xanthinuria 2 (XAN2) [MIM:603592] 36,260,092(+) C/T coding_sequence_variant, missense_variant
rs886037854 pathogenic, Xanthinuria type 2, Xanthinuria 2 (XAN2) [MIM:603592] 36,195,283(+) G/C coding_sequence_variant, missense_variant
rs886037855 pathogenic, Xanthinuria type 2 36,205,093(+) AAA/AAAA coding_sequence_variant, frameshift

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

Variant ID Type Subtype PubMed ID
esv2667651 CNV deletion 23128226
esv3304219 CNV mobile element insertion 20981092
esv3642217 CNV loss 21293372
esv3642218 CNV loss 21293372
esv3642219 CNV gain 21293372
esv3642220 CNV loss 21293372
esv987550 CNV deletion 20482838
nsv1064616 CNV gain 25217958
nsv130568 CNV deletion 16902084
nsv522803 CNV loss 19592680
nsv576651 CNV loss 21841781

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)

Additional Variant Information for MOCOS Gene

Human Gene Mutation Database (HGMD)
MOCOS
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MOCOS

SNP Genotyping and Copy Number Assay Products

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: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
xanthinuria, type ii
  • xan2
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 (XAN2) [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, XAN2 patients 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.12}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for MOCOS

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 for classical xanthinuria type II. (PMID: 11302742) Ichida K … Nishino T (Biochemical and biophysical research communications 2001) 2 3 4 22 58
  2. Novel pharmacogenetic markers for treatment outcome in azathioprine-treated inflammatory bowel disease. (PMID: 19500084) Smith MA … Sanderson JD (Alimentary pharmacology & therapeutics 2009) 3 22 44 58
  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 (Molecular genetics and metabolism 2007) 3 4 22 58
  4. A probability-based approach for high-throughput protein phosphorylation analysis and site localization. (PMID: 16964243) Beausoleil SA … Gygi SP (Nature biotechnology 2006) 3 4 58
  5. Identification of the missing component in the mitochondrial benzamidoxime prodrug-converting system as a novel molybdenum enzyme. (PMID: 16973608) Havemeyer A … Clement B (The Journal of biological chemistry 2006) 4 22 58

Products for MOCOS Gene

Sources for MOCOS Gene

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