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Aliases for MOCS3 Gene

Aliases for MOCS3 Gene

  • Molybdenum Cofactor Synthesis 3 2 3 5
  • Ubiquitin-Like Modifier Activating Enzyme 4 2 3
  • Molybdenum Cofactor Synthesis Protein 3 3 4
  • Molybdopterin Synthase Sulfurylase 3 4
  • MPT Synthase Sulfurylase 3 4
  • UBA4 3 4
  • UBA4, Ubiquitin-Activating Enzyme E1 Homolog (Yeast) 2
  • Adenylyltransferase And Sulfurtransferase MOCS3 3
  • UBA4, Ubiquitin-Activating Enzyme E1 Homolog 3

External Ids for MOCS3 Gene

Previous GeneCards Identifiers for MOCS3 Gene

  • GC20P049303
  • GC20P050213
  • GC20P050260
  • GC20P049008
  • GC20P049575
  • GC20P046323

Summaries for MOCS3 Gene

Entrez Gene Summary for MOCS3 Gene

  • Molybdenum cofactor (MoCo) is necessary for the function of all molybdoenzymes. The protein encoded by this gene adenylates and activates molybdopterin synthase, an enzyme required for biosynthesis of MoCo. This gene contains no introns. A pseudogene of this gene is present on chromosome 14. [provided by RefSeq, Nov 2012]

GeneCards Summary for MOCS3 Gene

MOCS3 (Molybdenum Cofactor Synthesis 3) is a Protein Coding gene. Diseases associated with MOCS3 include Molybdenum Cofactor Deficiency and Duane-Radial Ray Syndrome. Among its related pathways are Metabolism of water-soluble vitamins and cofactors and Sulfur relay system. GO annotations related to this gene include nucleotidyltransferase activity and sulfurtransferase activity. An important paralog of this gene is UBA5.

UniProtKB/Swiss-Prot for MOCS3 Gene

  • Plays a central role in 2-thiolation of mcm(5)S(2)U at tRNA wobble positions of cytosolic tRNA(Lys), tRNA(Glu) and tRNA(Gln). Also essential during biosynthesis of the molybdenum cofactor. Acts by mediating the C-terminal thiocarboxylation of sulfur carriers URM1 and MOCS2A. Its N-terminus first activates URM1 and MOCS2A as acyl-adenylates (-COAMP), then the persulfide sulfur on the catalytic cysteine is transferred to URM1 and MOCS2A to form thiocarboxylation (-COSH) of their C-terminus. The reaction probably involves hydrogen sulfide that is generated from the persulfide intermediate and that acts as nucleophile towards URM1 and MOCS2A. Subsequently, a transient disulfide bond is formed. Does not use thiosulfate as sulfur donor; NFS1 probably acting as a sulfur donor for thiocarboxylation reactions.

Gene Wiki entry for MOCS3 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MOCS3 Gene

Genomics for MOCS3 Gene

Regulatory Elements for MOCS3 Gene

Enhancers for MOCS3 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH20G051364 2 FANTOM5 Ensembl ENCODE dbSUPER 11.9 +407.5 407455 2.8 HDGF PKNOX1 CREB3L1 MLX ARNT ZFP64 ARID4B SIN3A DMAP1 YBX1 DPM1 MOCS3 ENSG00000232043 KCNG1 LOC105372663 GC20M051206
GH20G050658 1.7 Ensembl ENCODE dbSUPER 12 -297.2 -297203 6.5 CREB3L1 MLX ZFP64 DMAP1 YBX1 YY1 SLC30A9 ZNF143 ZNF263 SP3 ENSG00000232043 DPM1 RIPOR3 MOCS3 RPL36P2 MIR1302-5 MIR645 PSMD10P1 BCAS4 LOC105372659
GH20G050428 1.7 FANTOM5 ENCODE dbSUPER 11.9 -528.3 -528339 3.0 HDGF PKNOX1 MLX AGO1 ZFP64 ARID4B SIN3A DMAP1 YBX1 ZNF2 DPM1 MOCS3 ENSG00000232043 RN7SL636P COX6CP2
GH20G051749 2 FANTOM5 Ensembl ENCODE dbSUPER 9.9 +792.7 792716 5.0 HDGF PKNOX1 FOXA2 MLX ARNT SIN3A ARID4B DMAP1 FEZF1 ZBTB7B DPM1 ATP9A PSMD10P1 MOCS3 ZFP64 LOC100419570
GH20G050450 1.9 FANTOM5 Ensembl ENCODE dbSUPER 9.9 -507.1 -507080 2.9 PKNOX1 ATF1 ARID4B BRCA1 ZNF48 GTF3C2 CBX5 PAF1 ZHX2 MIER2 SNAI1 CEBPB DPM1 PTPN1 ENSG00000232043 PSMD10P1 MOCS3 TMEM189 LOC101927512 UBE2V1
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around MOCS3 on UCSC Golden Path with GeneCards custom track

Promoters for MOCS3 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000138597 -514 2601 HDGF PKNOX1 FOXA2 MLX CREB3L1 ARNT ZFP64 ARID4B SIN3A FEZF1

Genomic Location for MOCS3 Gene

Chromosome:
20
Start:
50,958,814 bp from pter
End:
50,963,931 bp from pter
Size:
5,118 bases
Orientation:
Plus strand

Genomic View for MOCS3 Gene

Genes around MOCS3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MOCS3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MOCS3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MOCS3 Gene

Proteins for MOCS3 Gene

  • Protein details for MOCS3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O95396-MOCS3_HUMAN
    Recommended name:
    Adenylyltransferase and sulfurtransferase MOCS3
    Protein Accession:
    O95396

    Protein attributes for MOCS3 Gene

    Size:
    460 amino acids
    Molecular mass:
    49669 Da
    Cofactor:
    Name=Zn(2+); Xref=ChEBI:CHEBI:29105;
    Quaternary structure:
    • Interacts with NFS1.

    Three dimensional structures from OCA and Proteopedia for MOCS3 Gene

neXtProt entry for MOCS3 Gene

Post-translational modifications for MOCS3 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for MOCS3 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for MOCS3 Gene

Domains & Families for MOCS3 Gene

Gene Families for MOCS3 Gene

Suggested Antigen Peptide Sequences for MOCS3 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

O95396

UniProtKB/Swiss-Prot:

MOCS3_HUMAN :
  • In the N-terminal section; belongs to the HesA/MoeB/ThiF family. UBA4 subfamily.
Family:
  • In the N-terminal section; belongs to the HesA/MoeB/ThiF family. UBA4 subfamily.
genes like me logo Genes that share domains with MOCS3: view

Function for MOCS3 Gene

Molecular function for MOCS3 Gene

UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=0.25 mM for thiosulfate {ECO:0000269 PubMed:15073332}; KM=0.28 mM for cyanide {ECO:0000269 PubMed:15073332};
UniProtKB/Swiss-Prot CatalyticActivity:
ATP + [molybdopterin-synthase sulfur-carrier protein]-Gly-Gly = diphosphate + [molybdopterin-synthase sulfur-carrier protein]-Gly-Gly-AMP.
UniProtKB/Swiss-Prot CatalyticActivity:
[Molybdopterin-synthase sulfur-carrier protein]-Gly-Gly-AMP + [cysteine desulfurase]-S-sulfanyl-L-cysteine + reduced acceptor = AMP + [molybdopterin-synthase sulfur-carrier protein]-Gly-NH-CH(2)-C(O)SH + [cysteine desulfurase] + oxidized acceptor.
UniProtKB/Swiss-Prot Function:
Plays a central role in 2-thiolation of mcm(5)S(2)U at tRNA wobble positions of cytosolic tRNA(Lys), tRNA(Glu) and tRNA(Gln). Also essential during biosynthesis of the molybdenum cofactor. Acts by mediating the C-terminal thiocarboxylation of sulfur carriers URM1 and MOCS2A. Its N-terminus first activates URM1 and MOCS2A as acyl-adenylates (-COAMP), then the persulfide sulfur on the catalytic cysteine is transferred to URM1 and MOCS2A to form thiocarboxylation (-COSH) of their C-terminus. The reaction probably involves hydrogen sulfide that is generated from the persulfide intermediate and that acts as nucleophile towards URM1 and MOCS2A. Subsequently, a transient disulfide bond is formed. Does not use thiosulfate as sulfur donor; NFS1 probably acting as a sulfur donor for thiocarboxylation reactions.

Gene Ontology (GO) - Molecular Function for MOCS3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003824 catalytic activity IEA --
GO:0004792 thiosulfate sulfurtransferase activity IMP 15073332
GO:0005515 protein binding IPI 18650437
GO:0005524 ATP binding IEA --
GO:0008641 small protein activating enzyme activity IEA --
genes like me logo Genes that share ontologies with MOCS3: view
genes like me logo Genes that share phenotypes with MOCS3: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for MOCS3

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for MOCS3 Gene

Localization for MOCS3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MOCS3 Gene

Cytoplasm.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MOCS3 gene
Compartment Confidence
cytosol 5
plasma membrane 3
mitochondrion 1

Gene Ontology (GO) - Cellular Components for MOCS3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with MOCS3: view

Pathways & Interactions for MOCS3 Gene

genes like me logo Genes that share pathways with MOCS3: view

Pathways by source for MOCS3 Gene

UniProtKB/Swiss-Prot O95396-MOCS3_HUMAN

  • Pathway: Cofactor biosynthesis; molybdopterin biosynthesis.
  • Pathway: tRNA modification; 5-methoxycarbonylmethyl-2-thiouridine-tRNA biosynthesis.

Gene Ontology (GO) - Biological Process for MOCS3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002098 tRNA wobble uridine modification IDA 19017811
GO:0002143 tRNA wobble position uridine thiolation IEA --
GO:0006777 Mo-molybdopterin cofactor biosynthetic process IDA,IEA 15073332
GO:0008033 tRNA processing IEA --
GO:0008152 metabolic process IEA --
genes like me logo Genes that share ontologies with MOCS3: view

No data available for SIGNOR curated interactions for MOCS3 Gene

Drugs & Compounds for MOCS3 Gene

(4) Drugs for MOCS3 Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Adenosine monophosphate Approved Nutra 0
Adenosine triphosphate Approved Nutra 0

(3) Additional Compounds for MOCS3 Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
molybdopterin
  • MoCo
  • Molybdenum cofactor
  • Molybdenum enzyme molybdenum cofactor
  • Molybdoenzyme molybdenum-containing cofactor
  • Nitrate reductase molybdenum cofactor
73508-07-3
pyrophosphate
  • (4-)Diphosphoric acid ion
  • (P2O74-)Diphosphate
  • Diphosphate
  • Diphosphoric acid
  • PPi
14000-31-8
genes like me logo Genes that share compounds with MOCS3: view

Transcripts for MOCS3 Gene

mRNA/cDNA for MOCS3 Gene

(1) REFSEQ mRNAs :
(2) Additional mRNA sequences :
(48) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for MOCS3 Gene

Molybdenum cofactor synthesis 3:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for MOCS3

Alternative Splicing Database (ASD) splice patterns (SP) for MOCS3 Gene

No ASD Table

Relevant External Links for MOCS3 Gene

GeneLoc Exon Structure for
MOCS3
ECgene alternative splicing isoforms for
MOCS3

Expression for MOCS3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for MOCS3 Gene

Protein differential expression in normal tissues from HIPED for MOCS3 Gene

This gene is overexpressed in Heart (25.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for MOCS3 Gene



Protein tissue co-expression partners for MOCS3 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of MOCS3 Gene:

MOCS3

SOURCE GeneReport for Unigene cluster for MOCS3 Gene:

Hs.159410
genes like me logo Genes that share expression patterns with MOCS3: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for MOCS3 Gene

Orthologs for MOCS3 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for MOCS3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia MOCS3 34 35
  • 99.57 (n)
dog
(Canis familiaris)
Mammalia MOCS3 34 35
  • 86.54 (n)
cow
(Bos Taurus)
Mammalia MOCS3 35
  • 86 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MOCS3 35
  • 80 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia MOCS3 35
  • 78 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Mocs3 34 16 35
  • 77.97 (n)
rat
(Rattus norvegicus)
Mammalia Mocs3 34
  • 77.58 (n)
chicken
(Gallus gallus)
Aves MOCS3 34 35
  • 64.63 (n)
lizard
(Anolis carolinensis)
Reptilia MOCS3 35
  • 67 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100491723 34
  • 57.49 (n)
zebrafish
(Danio rerio)
Actinopterygii mocs3 34 35
  • 59 (n)
-- 34
African malaria mosquito
(Anopheles gambiae)
Insecta MOCS3_ANOGA 34
  • 56.68 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG13090 36 34 35
  • 53.08 (n)
worm
(Caenorhabditis elegans)
Secernentea moc-3 34 35
  • 49.58 (n)
F42G8.6 36
  • 45 (a)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AER248W 34
  • 47.99 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes UBA4 34 35 37
  • 46.48 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0E21363g 34
  • 45.79 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons CNX5 34
  • 48.42 (n)
soybean
(Glycine max)
eudicotyledons Gma.773 34
rice
(Oryza sativa)
Liliopsida Os02g0525400 34
  • 52.42 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU00736 34
  • 48.86 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPAC2G11.10c 34
  • 45.87 (n)
Species where no ortholog for MOCS3 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for MOCS3 Gene

ENSEMBL:
Gene Tree for MOCS3 (if available)
TreeFam:
Gene Tree for MOCS3 (if available)

Paralogs for MOCS3 Gene

Paralogs for MOCS3 Gene

Pseudogenes.org Pseudogenes for MOCS3 Gene

genes like me logo Genes that share paralogs with MOCS3: view

Variants for MOCS3 Gene

Sequence variations from dbSNP and Humsavar for MOCS3 Gene

SNP ID Clin Chr 20 pos Sequence Context AA Info Type
rs117175017 Uncertain significance 50,958,484(+) CCGCC(A/G)AGACC nc-transcript-variant, upstream-variant-2KB, reference, missense
rs16995639 Uncertain significance 50,958,440(+) AGCAC(C/G/T)GAATA nc-transcript-variant, upstream-variant-2KB, reference, synonymous-codon
rs201392536 Uncertain significance 50,958,502(+) ACTAC(A/C/G/T)ACTGA nc-transcript-variant, upstream-variant-2KB, reference, missense
rs779869066 Uncertain significance 50,958,353(+) GACCT(A/G)GTGCG intron-variant, upstream-variant-2KB
rs1000358015 -- 50,958,617(+) GATGA(A/C)CTGTG upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for MOCS3 Gene

Variant ID Type Subtype PubMed ID
nsv834002 CNV loss 17160897

Variation tolerance for MOCS3 Gene

Residual Variation Intolerance Score: 27.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.55; 30.09% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for MOCS3 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
MOCS3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MOCS3 Gene

Disorders for MOCS3 Gene

MalaCards: The human disease database

(2) MalaCards diseases for MOCS3 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
molybdenum cofactor deficiency
  • combined deficiency of sulfite oxidase, xanthine dehydrogenase, and aldehyde oxidase
duane-radial ray syndrome
  • acrorenocular syndrome
- elite association - COSMIC cancer census association via MalaCards
Search MOCS3 in MalaCards View complete list of genes associated with diseases

Relevant External Links for MOCS3

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
MOCS3
genes like me logo Genes that share disorders with MOCS3: view

No data available for UniProtKB/Swiss-Prot and Genatlas for MOCS3 Gene

Publications for MOCS3 Gene

  1. 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. (PMID: 17459099) Krepinsky K. … Leimkuehler S. (FEBS J. 2007) 3 4 22 64
  2. Molybdenum cofactor biosynthesis in humans: identification of a persulfide group in the rhodanese-like domain of MOCS3 by mass spectrometry. (PMID: 15910006) Matthies A. … Leimkuehler S. (Biochemistry 2005) 2 3 4 64
  3. Evidence for the physiological role of a rhodanese-like protein for the biosynthesis of the molybdenum cofactor in humans. (PMID: 15073332) Matthies A. … Leimkuehler S. (Proc. Natl. Acad. Sci. U.S.A. 2004) 3 4 22 64
  4. The sulfurtransferase activity of Uba4 presents a link between ubiquitin-like protein conjugation and activation of sulfur carrier proteins. (PMID: 18491921) Schmitz J. … Leimkuehler S. (Biochemistry 2008) 3 22 64
  5. A novel role for human Nfs1 in the cytoplasm: Nfs1 acts as a sulfur donor for MOCS3, a protein involved in molybdenum cofactor biosynthesis. (PMID: 18650437) Marelja Z. … Leimkuehler S. (J. Biol. Chem. 2008) 3 4 64

Products for MOCS3 Gene

  • Addgene plasmids for MOCS3

Sources for MOCS3 Gene

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