MOCS1

MOCS1
Identifiers
Aliases	MOCS1, MIG11, MOCOD, MOCODA, molybdenum cofactor synthesis 1, MOCS1A, MOCS1B
External IDs	OMIM: 603707; MGI: 1928904; HomoloGene: 129502; GeneCards: MOCS1; OMA:MOCS1 - orthologs
Gene location (Human)
Chr.	Chromosome 6 (human)
End	39,934,551 bp
Gene location (Mouse)
Chr.	Chromosome 17 (mouse)
End	49,762,463 bp
RNA expression pattern
	Top expressed in
	apex of heart; ; popliteal artery; ; tibial arteries; ; right lung; ; pancreatic ductal cell; ; right lobe of liver; ; subcutaneous adipose tissue; ; mucosa of transverse colon; ; gastrocnemius muscle; ; tibial nerve;
	Top expressed in
	granulocyte; ; muscle of thigh; ; tail of embryo; ; lip; ; genital tubercle; ; right kidney; ; esophagus; ; ascending aorta; ; left lobe of liver; ; duodenum;
	More reference expression data
	; ;
	More reference expression data
Gene ontology
Molecular function	metal ion binding; nucleotide binding; 4 iron, 4 sulfur cluster binding; catalytic activity; lyase activity; GTP binding; iron-sulfur cluster binding; GTP 3',8'-cyclase activity; cyclic pyranopterin monophosphate synthase activity;
Cellular component	molybdopterin synthase complex; cytosol; nucleus;
Biological process	Mo-molybdopterin cofactor biosynthetic process; molybdopterin cofactor biosynthetic process;
	Sources:Amigo / QuickGO
Orthologs
	4337
	56738
	ENSG00000124615
	ENSMUSG00000064120
	Q9NZB8
	Q5RKZ7
NM_001075098; NM_005942; NM_005943; NM_138928; NM_001358529;
	NM_001358530; NM_001358531; NM_001358533; NM_001358534
	NM_020042; NM_028464
NP_001068566; NP_005934; NP_001345458; NP_001345459; NP_001345460;
	NP_001345462; NP_001345463
	NP_064426; NP_082740
	Wikidata
View/Edit Human	View/Edit Mouse

Molybdenum cofactor biosynthesis protein 1 is a protein that in humans is encoded by the MOCS1 gene.^[5] ^[6] ^[7]

Both copies of this gene are defective in patients with molybdenum cofactor deficiency, type A.^[7]

Template:PBB Summary

References

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000124615 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000064120 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ Reiss J, Cohen N, Dorche C, Mandel H, Mendel RR, Stallmeyer B, Zabot MT, Dierks T (Oct 1998). "Mutations in a polycistronic nuclear gene associated with molybdenum cofactor deficiency". Nat Genet. 20 (1): 51–3. doi:10.1038/1706. PMID 9731530.
^ Reiss J, Dorche C, Stallmeyer B, Mendel RR, Cohen N, Zabot MT (Apr 1999). "Human molybdopterin synthase gene: genomic structure and mutations in molybdenum cofactor deficiency type B". Am J Hum Genet. 64 (3): 706–11. doi:10.1086/302296. PMC 1377787. PMID 10053004.
^ ^a ^b "Entrez Gene: MOCS1 molybdenum cofactor synthesis 1".

References

Further reading