Property Summary

NCBI Gene PubMed Count 23
Grant Count 19
R01 Count 18
Funding $2,040,471.93
PubMed Score 193.71
PubTator Score 29.09

Knowledge Summary

Patent

No data available

Expression

Gene RIF (4)

PMID Text
17158010 We reported here an infant with MoCD who presented with hypoxic ischaemic encephalopathy and identified a novel mutation, c.130C>T in cDNA of the MOCS2 gene from the infant.
16737835 There was undisturbed production of both transcripts, while Western blot analysis demonstrated that MOCS2B, the large subunit, is unstable in the absence of MOCS2A.
12754701 Review: A total of 32 different disease-causing mutations, including several common to more than one family, have been identified in molybdenum cofactor-deficient patients and their relatives
12732628 analysis of sites within MOCS2 where mutations cause molybdenum cofactor deficiency

AA Sequence

MVPLCQVEVLYFAKSAEITGVRSETISVPQEIKALQLWKEIETRHPGLADVRNQIIFAVRQEYVELGDQL      1 - 70
LVLQPGDEIAVIPPISGG                                                         71 - 88
//

Text Mined References (28)

PMID Year Title
24927181 2014 Genome-wide association study identifies three novel susceptibility loci for severe Acne vulgaris.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
23376485 2013 Proteomic analysis of podocyte exosome-enriched fraction from normal human urine.
21269460 2011 Initial characterization of the human central proteome.
18650437 2008 A novel role for human Nfs1 in the cytoplasm: Nfs1 acts as a sulfur donor for MOCS3, a protein involved in molybdenum cofactor biosynthesis.
18491921 2008 The sulfurtransferase activity of Uba4 presents a link between ubiquitin-like protein conjugation and activation of sulfur carrier proteins.
18029348 2008 Toward a confocal subcellular atlas of the human proteome.
17459099 2007 Site-directed mutagenesis of the active site loop of the rhodanese-like domain of the human molybdopterin synthase sulfurase MOCS3. Major differences in substrate specificity between eukaryotic and bacterial homologs.
17158010 2007 Molybdenum cofactor deficiency: clinical features in a Turkish patient.
16964243 2006 A probability-based approach for high-throughput protein phosphorylation analysis and site localization.
16737835 2006 A novel MOCS2 mutation reveals coordinated expression of the small and large subunit of molybdopterin synthase.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
16021469 2005 Ten novel mutations in the molybdenum cofactor genes MOCS1 and MOCS2 and in vitro characterization of a MOCS2 mutation that abolishes the binding ability of molybdopterin synthase.
15910006 2005 Molybdenum cofactor biosynthesis in humans: identification of a persulfide group in the rhodanese-like domain of MOCS3 by mass spectrometry.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15073332 2004 Evidence for the physiological role of a rhodanese-like protein for the biosynthesis of the molybdenum cofactor in humans.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12754701 2003 Mutations in the molybdenum cofactor biosynthetic genes MOCS1, MOCS2, and GEPH.
12732628 2003 Mechanistic studies of human molybdopterin synthase reaction and characterization of mutants identified in group B patients of molybdenum cofactor deficiency.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
11746050 2001 Molybdopterin synthase mutations in a mild case of molybdenum cofactor deficiency.
10917590 2000 Diverse splicing mechanisms fuse the evolutionarily conserved bicistronic MOCS1A and MOCS1B open reading frames.
10053004 1999 Human molybdopterin synthase gene: genomic structure and mutations in molybdenum cofactor deficiency type B.
10053003 1999 Human molybdopterin synthase gene: identification of a bicistronic transcript with overlapping reading frames.
9889283 1999 The two subunits of human molybdopterin synthase: evidence for a bicistronic messenger RNA with overlapping reading frames.
9812897 1998 Dual requirement for gephyrin in glycine receptor clustering and molybdoenzyme activity.
9731530 1998 Mutations in a polycistronic nuclear gene associated with molybdenum cofactor deficiency.
1427786 The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: causes and consequences.