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MOCOS Gene

protein-coding   GIFtS: 55
GCID: GC18P033767

Molybdenum Cofactor Sulfurase

  See MOCOS-related disease
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Molybdenum Cofactor Sulfurase1 2     MOS2 3
MCS2 3 5     HMCS2
MoCo Sulfurase2 3     EC 2.8.1.93
Molybdenum Cofactor Sulfurtransferase2 3     hMCS3

External Ids:    HGNC: 182341   Entrez Gene: 550342   Ensembl: ENSG000000756437   OMIM: 6132745   UniProtKB: Q96EN83   

Export aliases for MOCOS gene to outside databases

Previous GC identifers: GC18P032019 GC18P032021 GC18P030626


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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. GO annotations related to this gene include molybdenum ion binding and pyridoxal phosphate binding. An important paralog of this gene is MARC2.

UniProtKB/Swiss-Prot: MOCOS_HUMAN, Q96EN8
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

Gene Wiki entry for MOCOS Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000018.9  NC_018929.2  NT_010966.15  
Regulatory elements:
   Regulatory transcription factor binding sites in the MOCOS gene promoter:
         c-Fos   AP-1   NRSF form 1   Lmo2   NRSF form 2   POU2F1   Ik-2   POU2F1a   ARP-1   c-Jun   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidMOCOS promoter sequence
   Search Chromatin IP Primers for MOCOS

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat MOCOS


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 18q12   Ensembl cytogenetic band:  18q12.2   HGNC cytogenetic band: 18q12

MOCOS Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MOCOS gene location

GeneLoc information about chromosome 18         GeneLoc Exon Structure

GeneLoc location for GC18P033767:  view genomic region     (about GC identifiers)

Start:
33,767,480 bp from pter      End:
33,852,120 bp from pter
Size:
84,641 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: MOCOS_HUMAN, Q96EN8 (See protein sequence)
Recommended Name: Molybdenum cofactor sulfurase  
Size: 888 amino acids; 98120 Da
Cofactor: Pyridoxal phosphate (By similarity)
Secondary accessions: Q53GP5 Q8N3A4 Q9NWM7

Explore the universe of human proteins at neXtProt for MOCOS: NX_Q96EN8

Explore proteomics data for MOCOS at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See MOCOS Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_060417.2  
    ENSEMBL proteins: 
     ENSP00000261326  
    Reactome Protein details: Q96EN8

    MOCOS Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    OriGene Purified Protein for MOCOS
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    OriGene MassSpec for MOCOS
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    Novus Biologicals MOCOS Protein
    Novus Biologicals MOCOS Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for MOCOS

     
    Search eBioscience for Proteins for MOCOS 

     
    antibodies-online proteins for MOCOS (2 products) 

     
    antibodies-online peptides for MOCOS

    MOCOS Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
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    Abcam antibodies for MOCOS
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    Search LSBio for Antibodies for MOCOS
    antibodies-online antibodies for MOCOS (3 products) 

    MOCOS Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    GenScript Custom Assay Services for MOCOS
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    Cloud-Clone Corp. ELISAs for MOCOS
    Cloud-Clone Corp. CLIAs for MOCOS
    Search eBioscience for ELISAs for MOCOS 
    antibodies-online kits for MOCOS (6 products) 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    Selected InterPro protein domains (see all 8):
     IPR005303 MOSC_N
     IPR005302 MoCF_Sase_C
     IPR015422 PyrdxlP-dep_Trfase_major_sub2
     IPR015424 PyrdxlP-dep_Trfase
     IPR011037 Pyrv_Knase-like_insert_dom

    Graphical View of Domain Structure for InterPro Entry Q96EN8

    ProtoNet protein and cluster: Q96EN8

    2 Blocks protein domains:
    IPB000192 Aminotransferase
    IPB005302 MOSC domain


    UniProtKB/Swiss-Prot: MOCOS_HUMAN, Q96EN8
    Similarity: Belongs to the class-V pyridoxal-phosphate-dependent aminotransferase family. MOCOS subfamily
    Similarity: Contains 1 MOSC domain


    Find genes that share domains with MOCOS           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: MOCOS_HUMAN, Q96EN8
    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
    Biophysicochemical properties: Kinetic parameters: KM=15 uM for benzamidoxime; Vmax=0.24 nmol/min/mg enzyme;

         Enzyme Number (IUBMB): EC 2.8.1.91

         Gene Ontology (GO): Selected molecular function terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003824catalytic activity ----
    GO:0008265Mo-molybdopterin cofactor sulfurase activity TAS--
    GO:0016740transferase activity IEA--
    GO:0016829lyase activity IEA--
    GO:0030151molybdenum ion binding IEA--
         
    Find genes that share ontologies with MOCOS           About GenesLikeMe


    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for MOCOS
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for MOCOS

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for MOCOS
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for MOCOS

    miRNA
    Products:
        
    miRTarBase miRNAs that target MOCOS:
    hsa-mir-335-5p (MIRT018645)

    Block miRNA regulation of human, mouse, rat MOCOS using miScript Target Protectors
    Search for qRT-PCR Assays for microRNAs that regulate MOCOS
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for MOCOS
    Predesigned siRNA for gene silencing in human, mouse, rat MOCOS

    Gene Editing
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    DNA2.0 Custom Protein Engineering Service for MOCOS

    Clone
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    OriGene clones in human, mouse for MOCOS (see all 6)
    OriGene ORF clones in mouse, rat for MOCOS
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: MOCOS (NM_017947)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for MOCOS
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MOCOS

    Cell Line
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    Browse ESI BIO Cell Lines and PureStem Progenitors for MOCOS 
    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MOCOS


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol4
    nucleus3
    peroxisome1

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005575cellular_component ND--
    GO:0005829cytosol TAS--

    Find genes that share ontologies with MOCOS           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for MOCOS About    
    See pathways by source

    SuperPathSelected contained pathways About (see all per SuperPath)
    1Defective BTD causes biotidinase deficiency
    Defective BTD causes biotidinase deficiency1.00
    Metabolism of vitamins and cofactors1.00
    Defective AMN causes hereditary megaloblastic anemia 11.00
    Defective MMACHC causes methylmalonic aciduria and homocystinuria type cblC1.00
    Defective MMAA causes methylmalonic aciduria type cblA1.00
    Defective MUT causes methylmalonic aciduria mut type1.00
    Defective CD320 causes methylmalonic aciduria1.00
    Defects in cobalamin (B12) metabolism1.00
    2Metabolism
    Metabolism0.38
    3Disease
    Disease


    Find genes that share SuperPaths with MOCOS           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 BioSystems Pathway for MOCOS
        thio-molybdenum cofactor biosynthesis

    1 Reactome Pathway for MOCOS
        Molybdenum cofactor biosynthesis


        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for MOCOS
    Interactions:

        Search GeneGlobe Interaction Network for MOCOS

    STRING Interaction Network Preview (showing 5 interactants - click image to see 9)

    Selected Interacting proteins for MOCOS (Q96EN83 ENSP000002613264) via UniProtKB, MINT, STRING, and/or I2D (see all 10)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    APOA1P026473, ENSP000002368504I2D: score=1 STRING: ENSP00000236850
    PARVAQ9NVD73I2D: score=1 
    GPHNENSP000003030194STRING: ENSP00000303019
    TRNT1ENSP000002516074STRING: ENSP00000251607
    IMP3ENSP000003269814STRING: ENSP00000326981
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006766vitamin metabolic process TAS--
    GO:0006767water-soluble vitamin metabolic process TAS--
    GO:0006777Mo-molybdopterin cofactor biosynthetic process IEA--
    GO:0008152metabolic process ----
    GO:0032324molybdopterin cofactor biosynthetic process TAS--

    Find genes that share ontologies with MOCOS           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for MOCOS

    3 HMDB Compounds for MOCOS    About this table
    CompoundSynonyms CAS #PubMed Ids
    MolybdenumMo (see all 7)7439-98-7--
    MolybdopterinMoCo (see all 6)73508-07-3--
    Pyridoxal 5'-phosphateApolon B6 (see all 27)54-47-7--

    1 DrugBank Compound for MOCOS    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Pyridoxal PhosphateCodecarboxylase (see all 9)54-47-7targetcofactor16784786 11886751 15561708 11553608

    4 Novoseek inferred chemical compound relationships for MOCOS gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    moco 89.2 2 17368066 (2)
    molybdenum 81.8 13 11886751 (3), 11302742 (2), 17368066 (2), 16973608 (2) (see all 5)
    sulfur 56.1 3 11302742 (1), 17368066 (1)
    cysteine 31.5 2 11886751 (1), 17368066 (1)



    Find genes that share compounds with MOCOS           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for MOCOS gene: 
    NM_017947.2  

    Unigene Cluster for MOCOS:

    Molybdenum cofactor sulfurase
    Hs.405028  [show with all ESTs]
    Unigene Representative Sequence: NM_017947
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000261326(uc002kzq.4) ENST00000588132
    miRNA
    Products:
         
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    Browse SwitchGear 3'UTR luciferase reporter plasmids
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    OriGene RNAi products in human, mouse, rat for MOCOS
    Predesigned siRNA for gene silencing in human, mouse, rat MOCOS
    Clone
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    OriGene clones in human, mouse for MOCOS (see all 6)
    OriGene ORF clones in mouse, rat for MOCOS
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: MOCOS (NM_017947)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for MOCOS
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MOCOS
    Primer
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    OriGene qPCR primer pairs and template standards for MOCOS
    OriGene qSTAR qPCR primer pairs in human, mouse for MOCOS
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat MOCOS
      QuantiTect SYBR Green Assays in human, mouse, rat MOCOS
      QuantiFast Probe-based Assays in human, mouse, rat MOCOS

    Additional mRNA sequence: 

    AK000740.1 AK222886.1 AL834481.1 BC012079.1 

    2 DOTS entries:

    DT.40297105  DT.95262122 

    Selected AceView cDNA sequences (see all 37):

    BX280861 BG437910 BI334738 BQ229917 NM_017947 BQ931455 BU633672 BC012079 
    BV199123 BI335548 AA689533 BU601942 BU153039 AK000740 BM798406 CF264922 
    BQ015014 BI333663 BI260498 BI253752 AL834481 CF529964 BQ953727 BE549243 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    MOCOS expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    MOCOS Expression
    About this image


    MOCOS expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 7) fully expand
     
     Skeletal Muscle (Muscoskeletal System)    fully expand to see all 2 entries
             Myoblasts Mandibular Arch Muscles
     
     Epithelial Cells
             Fetal Matrix Cells Hair Follicle
     
     Hair (Integumentary System)
             Fetal Matrix Cells Hair Follicle
     
     Ovary (Reproductive System)
             Mature Granulosa Cells Antral Follicle
     
     Endothelium (Cardiovascular System)
             Adult Endothelial Cells Blood Brain Barrier
    MOCOS Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    MOCOS Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.405028
        Custom PCR Arrays for MOCOS
    Primer
    Products:
    OriGene qPCR primer pairs and template standards for MOCOS
    OriGene qSTAR qPCR primer pairs in human, mouse for MOCOS
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    QuantiFast Probe-based Assays in human, mouse, rat MOCOS
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MOCOS

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for MOCOS gene from Selected species (see all 17)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Mocos1 , 5 molybdenum cofactor sulfurase1, 5 80.2(n)1
    76.78(a)1
      18 (13.18 cM)5
    685911  NM_026779.11  NP_081055.11 
     246536915 
    chicken
    (Gallus gallus)
    Aves MOCOS1 molybdenum cofactor sulfurase 65.71(n)
    63.92(a)
      420964  XM_419048.4  XP_419048.4 
    lizard
    (Anolis carolinensis)
    Reptilia MOCOS6
    molybdenum cofactor sulfurase
    54(a)
    1 ↔ 1
    6(57059385-57092492)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia BX760843.12   -- 71.18(n)    BX760843.1 
    zebrafish
    (Danio rerio)
    Actinopterygii 570578482   -- 76.74(n)    57057848 
    fruit fly
    (Drosophila melanogaster)
    Insecta mal1 maroon-like 50.5(n)
    45.11(a)
      33045  NM_078699.2  NP_523423.1 
    worm
    (Caenorhabditis elegans)
    Secernentea mocs-11 mocs-1 47.08(n)
    45.32(a)
      187534  NM_078151.2  NP_510552.2 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons ABA31 ABA3 47.74(n)
    40.49(a)
      838224  NM_101519.2  NP_564001.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for MOCOS gene
    MARC22  MARC12  

    Find genes that share paralogs with MOCOS           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
    About This Section

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    Selected SNPs for MOCOS (see all 1966)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 18 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0275284
    Xanthinuria 2 (XU2)4--see VAR_0275282 A P mis40--------
    VAR_0275334
    Xanthinuria 2 (XU2)4--see VAR_0275332 T I mis40--------
    VAR_0458994
    Xanthinuria 2 (XU2)4--see VAR_0458992 R C mis40--------
    rs1491980611,2
    C,Funtested133795659(+) ACACCA/G/TGGGAG 2 R G mis12NA EU 5869
    rs1498245481,2
    C--33765593(+) TGCCCG/TTGTGC 1 -- us2k10--------
    rs1479178071,2
    --33765607(+) TTATTC/TTGCCT 1 -- us2k10--------
    rs1883026481,2
    --33765652(+) CCTCCC/TAGATC 1 -- us2k10--------
    rs1400927901,2
    C--33765686(+) CAGGAC/GAGGTA 1 -- us2k10--------
    rs1808218481,2
    --33765991(+) CTGAGC/GAATAT 1 -- us2k10--------
    rs6078561,2
    C,F,O,A,H--33766007(+) CCTGGG/CCATGG 1 -- us2k117Minor allele frequency- C:0.46MN EA NS NA WA 2824

    HapMap Linkage Disequilibrium report for MOCOS (33767480 - 33852120 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 6 variations for MOCOS:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv987550CNV Deletion20482838
    esv2667651CNV Deletion23128226
    esv268498CNV Insertion20981092
    nsv130568CNV Loss16902084
    nsv522803CNV Loss19592680
    nsv909539CNV Gain21882294

    Human Gene Mutation Database (HGMD): MOCOS
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing MOCOS
    DNA2.0 Custom Variant and Variant Library Synthesis for MOCOS

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 613274    OMIM disorders: --

    UniProtKB/Swiss-Prot: MOCOS_HUMAN, Q96EN8
  • 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. Note=The disease is caused by mutations affecting the
    gene represented in this entry

  • 1 disease for MOCOS:    
    About MalaCards
    xanthinuria type 2


    Find genes that share disorders with MOCOS           About GenesLikeMe

    1 Novoseek inferred disease relationship for MOCOS gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    xanthinuria, type ii 99 6 11302742 (3), 17368066 (1)

    Genetic Association Database (GAD): MOCOS
    Human Genome Epidemiology (HuGE) Navigator: MOCOS (1 document)

    Export disorders for MOCOS gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for MOCOS gene, integrated from 10 sources (see all 24):
    (articles sorted by number of sources associating them with MOCOS)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Mutation of human molybdenum cofactor sulfurase gene is responsible to classical xanthinuria type II. (PubMed id 11302742)1, 2, 3, 9 Ichida K.... Nishino T. (Biochem. Biophys. Res. Commun. 2001)
    2. 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. (PubMed id 17368066)1, 2, 9 Peretz H.... Landau D. (Mol. Genet. Metab. 2007)
    3. Novel pharmacogenetic markers for treatment outcome in azathioprine-treated inflammatory bowel disease. (PubMed id 19500084)1, 4, 9 Smith M.A....Sanderson J.D. (amp 2009)
    4. A probability-based approach for high-throughput protein phosphorylation analysis and site localization. (PubMed id 16964243)1, 2 Beausoleil S.A.... Gygi S.P. (Nat. Biotechnol. 2006)
    5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    6. Identification of a new point mutation in the human molybdenum cofactor sulferase gene that is responsible for xanthinuria type II. (PubMed id 14624414)1, 2 Yamamoto T.... Hada T. (Metabolism 2003)
    7. MOSC domains: ancient, predicted sulfur-carrier domains, present in diverse metal-sulfur cluster biosynthesis proteins including Molybdenum cofactor sulfurases. (PubMed id 11886751)7, 9 Anantharaman V. and Aravind L. (FEMS Microbiol. Lett. 2002)
    8. Identification of the missing component in the mitochondrial benzamidoxime prodrug converting system as a novel molybdenum enzyme. (PubMed id 16973608)2, 9 Havemeyer A.... Clement B. (J. Biol. Chem. 2006)
    9. Polymorphism of genes involved in purine metabolism (XDH, AOX1, MOCOS) in kidney transplant recipients receiving azathioprine. (PubMed id 22495427)1 Kurzawski M....Drozdzik M. (Ther Drug Monit 2012)
    10. Systematic and quantitative assessment of the ubiquitin-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (Mol. Cell 2011)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 55034 HGNC: 18234 AceView: MOCOS Ensembl:ENSG00000075643 euGenes: HUgn55034
    ECgene: MOCOS H-InvDB: MOCOS

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for MOCOS Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

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    Patent Information for MOCOS gene:
    Search GeneIP for patents involving MOCOS

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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