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MOCOS molybdenum cofactor sulfurase [ Homo sapiens (human) ]

Gene ID: 55034, updated on 1-Jun-2020

Summary

Official Symbol
MOCOSprovided by HGNC
Official Full Name
molybdenum cofactor sulfuraseprovided by HGNC
Primary source
HGNC:HGNC:18234
See related
Ensembl:ENSG00000075643 MIM:613274
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

Genomic context

See MOCOS in Genome Data Viewer
Location:
18q12.2
Exon count:
15
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 18 NC_000018.10 (36187497..36272157)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 18 NC_000018.9 (33767480..33848685)

Chromosome 18 - NC_000018.10Genomic Context describing neighboring genes Neighboring gene solute carrier family 39 member 6 Neighboring gene uncharacterized LOC101927809 Neighboring gene elongator acetyltransferase complex subunit 2 Neighboring gene WDR45-like pseudogene Neighboring gene RNA, U4 small nuclear 3, pseudogene Neighboring gene formin homology 2 domain containing 3 Neighboring gene uncharacterized LOC105372071

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ20733

Gene Ontology Provided by GOA

Function Evidence Code Pubs
Mo-molybdopterin cofactor sulfurase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Mo-molybdopterin cofactor sulfurase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
lyase activity IEA
Inferred from Electronic Annotation
more info
 
molybdenum cofactor sulfurtransferase activity IEA
Inferred from Electronic Annotation
more info
 
molybdenum ion binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
pyridoxal phosphate binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
Mo-molybdopterin cofactor biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
molybdopterin cofactor biosynthetic process TAS
Traceable Author Statement
more info
 
molybdopterin cofactor metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
molybdopterin cofactor metabolic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
cellular_component ND
No biological Data available
more info
 
cytosol TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
molybdenum cofactor sulfurase
NP_060417.4

NCBI Reference Sequences (RefSeq)

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_053177.1 RefSeqGene

    Range
    5001..86518
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_017947.4NP_060417.4  molybdenum cofactor sulfurase

    Status: REVIEWED

    Source sequence(s)
    AC023043
    Consensus CDS
    CCDS11919.1
    Related
    ENSP00000261326.4, ENST00000261326.6
    Conserved Domains (1) summary
    cl28042
    Location:28866
    MOSC_N; MOSC N-terminal beta barrel domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000018.10 Reference GRCh38.p13 Primary Assembly

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