MOCOS molybdenum cofactor sulfurase [Homo sapiens (human)] - Gene

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; 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

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_000018.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.
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.

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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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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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

EC 2.8.1.9

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

NG_053177.2 RefSeqGene

Range

5002..89662

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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