Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	55034
Gene name	Molybdenum cofactor sulfurase
Gene symbol	MOCOS
Synonyms (NCBI Gene)	HMCSMCSMOS
Chromosome	18
Chromosome location	18q12.2
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

Show/Hide all (3)

SNP ID	Visualize variation	Clinical significance	Consequence
rs750896617	C>A,T	Pathogenic	Coding sequence variant, missense variant
rs886037854	G>C	Pathogenic	Coding sequence variant, missense variant
rs886037855	->A	Pathogenic	Coding sequence variant, frameshift variant

Show/Hide all (51)

miRTarBase ID	miRNA	Experiments	Reference
MIRT018645	hsa-miR-335-5p	Microarray	18185580
MIRT641549	hsa-miR-1911-3p	HITS-CLIP	23824327
MIRT641548	hsa-miR-1226-3p	HITS-CLIP	23824327
MIRT641547	hsa-miR-4733-3p	HITS-CLIP	23824327
MIRT641546	hsa-miR-6773-3p	HITS-CLIP	23824327
MIRT641545	hsa-miR-215-3p	HITS-CLIP	23824327
MIRT641544	hsa-miR-3194-3p	HITS-CLIP	23824327
MIRT641543	hsa-miR-6879-3p	HITS-CLIP	23824327
MIRT641541	hsa-miR-3944-5p	HITS-CLIP	23824327
MIRT641542	hsa-miR-143-5p	HITS-CLIP	23824327
MIRT641539	hsa-miR-5691	HITS-CLIP	23824327
MIRT641540	hsa-miR-6805-3p	HITS-CLIP	23824327
MIRT531968	hsa-miR-1323	PAR-CLIP	22012620
MIRT531967	hsa-miR-548o-3p	PAR-CLIP	22012620
MIRT531966	hsa-miR-377-5p	PAR-CLIP	22012620
MIRT531964	hsa-miR-6086	PAR-CLIP	22012620
MIRT531965	hsa-miR-6854-3p	PAR-CLIP	22012620
MIRT447736	hsa-miR-541-5p	PAR-CLIP	22100165
MIRT450467	hsa-miR-6865-3p	PAR-CLIP	22100165
MIRT447735	hsa-miR-4667-3p	PAR-CLIP	22100165
MIRT447734	hsa-miR-4320	PAR-CLIP	22100165
MIRT447733	hsa-miR-526b-5p	PAR-CLIP	22100165
MIRT447736	hsa-miR-541-5p	PAR-CLIP	22100165
MIRT447735	hsa-miR-4667-3p	PAR-CLIP	22100165
MIRT447734	hsa-miR-4320	PAR-CLIP	22100165
MIRT447733	hsa-miR-526b-5p	PAR-CLIP	22100165
MIRT641549	hsa-miR-1911-3p	HITS-CLIP	23824327
MIRT641548	hsa-miR-1226-3p	HITS-CLIP	23824327
MIRT641547	hsa-miR-4733-3p	HITS-CLIP	23824327
MIRT641546	hsa-miR-6773-3p	HITS-CLIP	23824327
MIRT641545	hsa-miR-215-3p	HITS-CLIP	23824327
MIRT641544	hsa-miR-3194-3p	HITS-CLIP	23824327
MIRT641543	hsa-miR-6879-3p	HITS-CLIP	23824327
MIRT641541	hsa-miR-3944-5p	HITS-CLIP	23824327
MIRT641542	hsa-miR-143-5p	HITS-CLIP	23824327
MIRT641539	hsa-miR-5691	HITS-CLIP	23824327
MIRT641540	hsa-miR-6805-3p	HITS-CLIP	23824327
MIRT531968	hsa-miR-1323	PAR-CLIP	22012620
MIRT531967	hsa-miR-548o-3p	PAR-CLIP	22012620
MIRT531966	hsa-miR-377-5p	PAR-CLIP	22012620
MIRT531964	hsa-miR-6086	PAR-CLIP	22012620
MIRT531965	hsa-miR-6854-3p	PAR-CLIP	22012620
MIRT447736	hsa-miR-541-5p	PAR-CLIP	22100165
MIRT450467	hsa-miR-6865-3p	PAR-CLIP	22100165
MIRT447735	hsa-miR-4667-3p	PAR-CLIP	22100165
MIRT447734	hsa-miR-4320	PAR-CLIP	22100165
MIRT447733	hsa-miR-526b-5p	PAR-CLIP	22100165
MIRT447736	hsa-miR-541-5p	PAR-CLIP	22100165
MIRT447735	hsa-miR-4667-3p	PAR-CLIP	22100165
MIRT447734	hsa-miR-4320	PAR-CLIP	22100165
MIRT447733	hsa-miR-526b-5p	PAR-CLIP	22100165

Show/Hide all (16)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003824	Function	Catalytic activity	IEA
GO:0005515	Function	Protein binding	IPI	21516116, 25416956, 28514442, 32296183, 33961781
GO:0005829	Component	Cytosol	TAS
GO:0006777	Process	Mo-molybdopterin cofactor biosynthetic process	IEA
GO:0006777	Process	Mo-molybdopterin cofactor biosynthetic process	IMP	11302742
GO:0008265	Function	Molybdenum cofactor sulfurtransferase activity	IBA
GO:0008265	Function	Molybdenum cofactor sulfurtransferase activity	IEA
GO:0008265	Function	Molybdenum cofactor sulfurtransferase activity	IMP	11302742
GO:0008265	Function	Molybdenum cofactor sulfurtransferase activity	TAS
GO:0016740	Function	Transferase activity	IEA
GO:0016829	Function	Lyase activity	IEA
GO:0030151	Function	Molybdenum ion binding	IEA
GO:0030170	Function	Pyridoxal phosphate binding	IEA
GO:0032324	Process	Molybdopterin cofactor biosynthetic process	IEA
GO:0032324	Process	Molybdopterin cofactor biosynthetic process	TAS
GO:0043545	Process	Molybdopterin cofactor metabolic process	IBA

MIM	HGNC	e!Ensembl
613274	18234	ENSG00000075643

Q96EN8

Protein name

Molybdenum cofactor sulfurase (MCS) (MOS) (MoCo sulfurase) (hMCS) (EC 2.8.1.9) (Molybdenum cofactor sulfurtransferase)

Protein function

Sulfurates the molybdenum cofactor (PubMed:34356852). Sulfation of molybdenum is essential for xanthine dehydrogenase (XDH) and aldehyde oxidase (ADO) enzymes in which molybdenum cofactor is liganded by 1 oxygen and 1 sulfur atom in active form

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00266	Aminotran_5	50 → 481	Aminotransferase class-V	Domain
PF03476	MOSC_N	582 → 701	MOSC N-terminal beta barrel domain	Domain
PF03473	MOSC	729 → 865	MOSC domain	Domain

Sequence

MAGAAAESGRELWTFAGSRDPSAPRLAYGYGPGSLRELRAREFSRLAGTVYLDHAGATLF
SQSQLESFTSDLMENTYGNPHSQNISSKLTHDTVEQVRYRILAHFHTTAEDYTVIFTAGS
TAALKLVAEAFPWVSQGPESSGSRFCYLTDSHTSVVGMRNVTMAINVISTPVRPEDLWSA
EERSASASNPDCQLPHLFCYPAQSNFSGVRYPLSWIEEVKSGRLHPVSTPGKWFVLLDAA
SYVSTSPLDLSAHQADFVPISFYKIFGFPTGLGALLVHNRAAPLLRKTYFGGGTASAYLA
GEDFYIPRQSVAQRFEDGTISFLDVIALKHGFDTLERLTGGMENIKQHTFTLAQYTYVAL
SSLQYPNGAPVVRIYSDSEFSSPEVQGPIINFNVLDDKGNIIGYSQVDKMASLYNIHLRT
GCFCNTGACQRHLGISNEMVRKHFQAGHVCGDNMDLIDGQPTGSVRISFGYMSTLDDVQA
FLRFIIDTRLHSSGDWPVPQAHADTGETGAPSADSQADVIPAVMGRRSLSPQEDALTGSR
VWNNSSTVNAVPVAPPVCDVARTQPTPSEKAAGVLEGALGPHVVTNLYLYPIKSCAAFEV
TRWPVGNQGLLYDRSWMVVNHNGVCLSQKQEPRLCLIQPFIDLRQRIMVIKAKGMEPIEV
PLEENSERTQIRQSRVCADRVSTYDCGEKISSWLSTFFGRPCHLIKQSSNSQRNAKKKHG
KDQLPGTMATLSLVNEAQYLLINTSSILELHRQLNTSDENGKEELFSLKDLSLRFRANII
INGKRAFEEEKWDEISIGSLRFQVLGPCHRCQMICIDQQTGQRNQHVFQKLSESRETKVN
FGMYLMHASLDLSSPCFLSVGSQVLPVLKENVEGHDLPASEKHQDVTS

Sequence length

888

Interactions

View interactions

	KEGG		Reactome
	Folate biosynthesis Metabolic pathways		Molybdenum cofactor biosynthesis

294

Show/Hide Causal Diseases (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Autism spectrum disorder	Likely pathogenic	rs750896617	RCV003313948
MOCOS-related disorder	Likely pathogenic	rs2510984845, rs2511390167	RCV003400310 RCV003421079
Xanthinuria type II	Likely pathogenic; Pathogenic	rs761752580, rs1318625944, rs1164875023, rs2091474513, rs775406459, rs2510966451, rs2510984970, rs1362463869, rs1699077839, rs1424773596, rs142150953, rs886037854, rs750896617, rs886037855, rs2510984845 View all (5 more)	RCV001316839 RCV001535959 RCV001535868 RCV001999830 RCV002035504 RCV002717354 RCV002834993 RCV002949628 RCV002996215 RCV002994380 RCV000239577 RCV000239490 RCV000239542 RCV000239582 RCV005021948 RCV003755648 RCV003755626 RCV003756398 RCV003990923 RCV001238582

Show/Hide Unknown Diseases (8)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Cervical cancer	Uncertain significance	rs2091408152	RCV005926593
Cholangiocarcinoma	Benign	rs35734714	RCV005911360
Familial cancer of breast	Benign	rs540967, rs749356320	RCV005911295 RCV005869723
Malignant lymphoma, large B-cell, diffuse	Benign	rs594445	RCV005914471
Malignant tumor of esophagus	Benign	rs35734714	RCV005911358
Primary hyperoxaluria	Uncertain significance	rs2091405838	RCV001090161
Thymoma	Benign	rs35734714	RCV005911359
Uterine corpus endometrial carcinoma	Benign	rs35734714, rs79632029	RCV005911361 RCV005919836

Show/Hide Text Mining Associations (6)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Autism Spectrum Disorder	Associate	32327736, 38287090
Drug Related Side Effects and Adverse Reactions	Associate	30927276
Neutropenia	Associate	30927276
Renal hypouricemia	Associate	25967871
Schizophrenia	Associate	34099189
Xanthinuria Type II	Associate	25967871

MOCOS (molybdenum cofactor sulfurase)