MOCOS - molybdenum cofactor sulfurase Gene

Also Known as MCS; MOS; HMCS

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 55034

About MOCOS

Cytogenetic location: 18q12.2 Genomic coordinates (GRCh38): 18:36,187,497-36,272,157 (from NCBI)

This gene has 2 transcripts (splice variants), 204 orthologues, 2 paralogues and is associated with 2 phenotypes. Broad expression in liver (RPKM 7.8), adrenal (RPKM 7.4) and 18 other tissues.

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]

MOCOS Products (1)

mRNA	Protein	Name
NM_017947.4	NP_060417.4	molybdenum cofactor sulfurase

Gene Ontology

Molecular Function
Biological Process

Molecular Function GO Annotation	Evidence	Verweise	Source
enables molybdenum cofactor sulfurtransferase activity	IMP IMP: Inferred from mutant phenotype	11302742	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	21516116	GOA

Biological Process GO Annotation	Evidence	Verweise	Source
involved in molybdopterin cofactor metabolic process	IMP IMP: Inferred from mutant phenotype	11302742	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

MOCOS Protein Structure

Aminotran_5

MOSC_N

MOSC

0
200
400
600
800
888 a.a.

Protein Preferred Names	Protein Names
molybdenum cofactor sulfurase

MOCOS Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Verweise
Intra	MOCOS	Q96EN8	ARL8A	Homo sapiens	Q96BM9	Y2H Prey Pooling	32296183
Intra	MOCOS	Q96EN8	ARL8A	Homo sapiens	Q96BM9	Y2H Array	32296183
Intra	MOCOS	Q96EN8	PARVA	Homo sapiens	Q9NVD7	Y2H Prey Pooling	25416956
Intra	MOCOS	Q96EN8	PARVA	Homo sapiens	Q9NVD7	Y2H	21516116

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Xanthinuria, Type Ii	Xanthinuria Type Ii XAN2 Xdh And Aox Dual Deficiency Xanthine Dehydrogenase And Aldehyde Oxidase, Combined Deficiency Of Xanthinuria Type 2 Type 2 Xanthinuria Type Ii Xanthinuria Xanthine Dehydrogenase And Aldehyde Oxidase Combined Deficiency Of Xanthine Dehydrogenase And Xanthine Aldehyde Oxidase Dual Deficiency Xanthinuria 2 Combined Deficiency Of Xanthine Dehydrogenase And Aldehyde Oxidase Xanthic Urolithiasis
Xanthinuria	Xanthine Dehydrogenase Deficiency Xanthine Oxidase Deficiency Hereditary Xanthinuria Xanthic Urolithiasis Xanthine Stone Disease Xanthinuria, Type I Combined Deficiency Of Xanthine Dehydrogenase And Aldehyde Oxidase Xdh Deficiency Classic Xanthinuria Xanthinuria, Type Ii Classical Xanthinuria Xanthine Calculus
Purine-Pyrimidine Metabolic Disorder	Inborn Errors Of Purine-Pyrimidine Metabolism Disorder Of Purine Or Pyrimidine Metabolism
Prolidase Deficiency	Hyperimidodipeptiduria Imidodipeptidase Deficiency Peptidase Deficiency PD Deficiency Of Prolidase Imidodipeptiduria Proline Dipeptidase Deficiency
Autism Spectrum Disorder	Asd Autism Spectrum Disorders Autistic Continuum Pervasive Developmental Disorder Pervasive Development Disorder Autistic Behavior Autistic Disorder Autistic Autistic Disorder Of Childhood Onset Infantile Autism Childhood Autism Kanner Syndrome Pervasive Developmental Delay Nos Pervasive Developmental Disorder, Not Otherwise Specified
Autism	Autistic Disorder Autism Susceptibility 1 Childhood Autism Autistic Disorder Of Childhood Onset Infantile Autism Kanner'S Syndrome Autistic

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (2)

Art. -Nr.	Produktname	Wirkung	Reinheit	Rare Diseases
HY-178342	Xanthine oxidase-IN-18	Inhibitor	/	Unkown
HY-RS08579	MOCOS Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	MOCOS	RGD	RGD:1308496
Macaca mulatta	MOCOS	VGNC	VGNC:74792
Canis familiaris	MOCOS	VGNC	VGNC:43305
Felis catus	MOCOS	VGNC	VGNC:63549
Mus musculus	MOCOS	MGD	MGI:1915841
Bos taurus	MOCOS	VGNC	VGNC:31547
Others	MOCOS	NCBI