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MOCOS molybdenum cofactor sulfurase [ Homo sapiens (human) ]

Gene ID: 55034, updated on 5-Mar-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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Location:
18q12.2
Exon count:
15
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 18 NC_000018.10 (36187497..36272157)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 18 NC_060942.1 (36379059..36463756)
105.20220307 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
  • 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. The rs594445 in MOCOS gene is associated with risk of autism spectrum disorder. Taheri M, et al. Metab Brain Dis, 2020 Mar. PMID 31900757
  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. Peretz H, et al. Mol Genet Metab, 2007 May. PMID 17368066
  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 (28) 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
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Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

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 Mo-molybdopterin cofactor sulfurase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables Mo-molybdopterin cofactor sulfurase activity IMP
Inferred from Mutant Phenotype
more info
 PubMed 
enables Mo-molybdopterin cofactor sulfurase activity TAS
Traceable Author Statement
more info
  
enables lyase activity IEA
Inferred from Electronic Annotation
more info
  
enables molybdenum cofactor sulfurtransferase activity IEA
Inferred from Electronic Annotation
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
is_active_in cellular_component ND
No biological Data available
more info
  
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_2023_10

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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