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    MOCOS molybdenum cofactor sulfurase [ Homo sapiens (human) ]

    Gene ID: 55034, updated on 14-Nov-2024

    Summary

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    Official Symbol
    MOCOSprovided by HGNC
    Official Full Name
    molybdenum cofactor sulfuraseprovided by HGNC
    Primary source
    HGNC:HGNC:18234
    See related
    Ensembl:ENSG00000075643 MIM:613274; AllianceGenome:HGNC:18234
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    MCS; MOS; HMCS
    Summary
    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]
    Expression
    Broad expression in liver (RPKM 7.8), adrenal (RPKM 7.4) and 18 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See MOCOS in Genome Data Viewer
    Location:
    18q12.2
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 18 NC_000018.10 (36187497..36272157)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 18 NC_060942.1 (36379059..36463756)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 18 NC_000018.9 (33767460..33852120)

    Chromosome 18 - NC_000018.10Genomic Context describing neighboring genes Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:33709101-33709606 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:33709607-33710112 Neighboring gene solute carrier family 39 member 6 Neighboring gene MPRA-validated peak3116 silencer Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:33765682-33766504 Neighboring gene ReSE screen-validated silencer GRCh37_chr18:33767264-33767527 Neighboring gene uncharacterized LOC124904286 Neighboring gene elongator acetyltransferase complex subunit 2 Neighboring gene cell fate and sterol metabolism associated divergent transcript of MOCOS Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr18:33820153-33820688 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr18:33820689-33821222 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:33827157-33827657 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:33876522-33877499 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9404 Neighboring gene WDR45-like pseudogene Neighboring gene RNA, U4 small nuclear 3, pseudogene Neighboring gene formin homology 2 domain containing 3 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13236 Neighboring gene MPRA-validated peak3117 silencer Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:34050630-34051186 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13237 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13238 Neighboring gene MPRA-validated peak3119 silencer Neighboring gene ReSE screen-validated silencer GRCh37_chr18:34098259-34098446 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:34098790-34099369 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:34099370-34099948 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9405 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13239 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13240 Neighboring gene uncharacterized LOC105372071 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13241

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. 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. Peretz H, et al. Mol Genet Metab, 2007 May. PMID 17368066
    2. The rs594445 in MOCOS gene is associated with risk of autism spectrum disorder. Taheri M, et al. Metab Brain Dis, 2020 Mar. PMID 31900757
    3. Identification of a new point mutation in the human molybdenum cofactor sulferase gene that is responsible for xanthinuria type II. Yamamoto T, et al. Metabolism, 2003 Nov. PMID 14624414
    4. Impaired expression of the COSMOC/MOCOS gene unit in ASD patient stem cells. Rontani P, et al. Mol Psychiatry, 2021 May. PMID 32327736, Free PMC Article
    5. Polymorphism of genes involved in purine metabolism (XDH, AOX1, MOCOS) in kidney transplant recipients receiving azathioprine. Kurzawski M, et al. Ther Drug Monit, 2012 Jun. PMID 22495427

    See all (30) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Impaired expression of the COSMOC/MOCOS gene unit in ASD patient stem cells.
      Title: Impaired expression of the COSMOC/MOCOS gene unit in ASD patient stem cells.
    2. The rs594445 in MOCOS gene is associated with risk of autism spectrum disorder.
      Title: The rs594445 in MOCOS gene is associated with risk of autism spectrum disorder.
    3. MOCOS sulfurates the molybdenum cofactor of xanthine oxidase (XDH) and aldehyde oxidase 1 (AOX1), which is required for their activities.
      Title: Polymorphism of genes involved in purine metabolism (XDH, AOX1, MOCOS) in kidney transplant recipients receiving azathioprine.
    4. Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
      Title: Novel pharmacogenetic markers for treatment outcome in azathioprine-treated inflammatory bowel disease.
    5. Two mutations, both in the N-terminal domain of the Human Molybdenum Cofactor Sulfurase (HMCS), were reported in patients with type II xanthinuria.
      Title: 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.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Xanthinuria type II
    MedGen: C1863688 OMIM: 603592 GeneReviews: Not available
    		Compare labs

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ20733

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables lyase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables molybdenum cofactor sulfurtransferase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables molybdenum cofactor sulfurtransferase activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables molybdenum cofactor sulfurtransferase activity TAS
    Traceable Author Statement
    more info
    		  
    enables molybdenum ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables pyridoxal phosphate binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in Mo-molybdopterin cofactor biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in molybdopterin cofactor biosynthetic process TAS
    Traceable Author Statement
    more info
    		  
    involved_in molybdopterin cofactor metabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in molybdopterin cofactor metabolic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    Preferred Names
    molybdenum cofactor sulfurase
    Names
    human molybdenum cofactor sulfurase
    NP_060417.4

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_053177.2 RefSeqGene

      Range
      5002..89662
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_017947.4 → NP_060417.4  molybdenum cofactor sulfurase

      Status: REVIEWED

      Source sequence(s)
      AC023043
      Consensus CDS
      CCDS11919.1
      UniProtKB/Swiss-Prot
      Q53GP5, Q8N3A4, Q96EN8, Q9NWM7
      Related
      ENSP00000261326.4, ENST00000261326.6
      Conserved Domains (1) summary
      cl28042
      Location:28 → 866
      MOSC_N; MOSC N-terminal beta barrel domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000018.10 Reference GRCh38.p14 Primary Assembly

      Range
      36187497..36272157
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060942.1 Alternate T2T-CHM13v2.0

      Range
      36379059..36463756
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96EN8.2 GenPept UniProtKB/Swiss-Prot:Q96EN8

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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