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MOCS3 Gene

protein-coding   GIFtS: 57
GCID: GC20P049575

Molybdenum Cofactor Synthesis 3

  See MOCS3-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Molybdenum Cofactor Synthesis 31 2     MPT Synthase Sulfurylase2 3
UBA41 2 3     Ubiquitin-Activating Enzyme E1 Homolog (Yeast)1
Ubiquitin-Like Modifier Activating Enzyme 41 2     Adenylyltransferase And Sulfurtransferase MOCS32
Molybdenum Cofactor Synthesis Protein 32 3     UBA4, Ubiquitin-Activating Enzyme E1 Homolog2
Molybdopterin Synthase Sulfurylase2 3     

External Ids:    HGNC: 157651   Entrez Gene: 273042   Ensembl: ENSG000001242177   OMIM: 6092775   UniProtKB: O953963   

Export aliases for MOCS3 gene to outside databases

Previous GC identifers: GC20P049303 GC20P050213 GC20P050260 GC20P049008 GC20P046323


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 methylmalonic aciduria and homocystinuria type cble, and methylmalonic aciduria and homocystinuria type cblg. GO annotations related to this gene include sulfurtransferase activity and nucleotidyltransferase activity. An important paralog of this gene is UBA5.

UniProtKB/Swiss-Prot: MOCS3_HUMAN, O95396
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 Wiki entry for MOCS3 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000020.10  NC_018931.2  NT_011362.11  
Regulatory elements:
   Regulatory transcription factor binding sites in the MOCS3 gene promoter:
         Max1   STAT5A   Roaz   C/EBPalpha   NRF-2   HOXA5   COMP1   c-Myc   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidMOCS3 promoter sequence
   Search Chromatin IP Primers for MOCS3

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat MOCS3


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 20q13.13   Ensembl cytogenetic band:  20q13.13   HGNC cytogenetic band: 20q13.13

MOCS3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MOCS3 gene location

GeneLoc information about chromosome 20         GeneLoc Exon Structure

GeneLoc location for GC20P049575:  view genomic region     (about GC identifiers)

Start:
49,575,363 bp from pter      End:
49,577,820 bp from pter
Size:
2,458 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: MOCS3_HUMAN, O95396 (See protein sequence)
Recommended Name: Adenylyltransferase and sulfurtransferase MOCS3  
Size: 460 amino acids; 49669 Da
Cofactor: Binds 1 zinc ion per subunit (By similarity)
Subunit: Interacts with NFS1
1 PDB 3D structure from and Proteopedia for MOCS3:
3I2V (3D)    

Explore the universe of human proteins at neXtProt for MOCS3: NX_O95396

Explore proteomics data for MOCS3 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See MOCS3 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_055299.1  
    ENSEMBL proteins: 
     ENSP00000244051  
    Reactome Protein details: O95396

    MOCS3 Human Recombinant Protein Products:

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    Cloud-Clone Corp. Proteins for MOCS3

     
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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    UBE1: Ubiquitin-like modifier activating enzymes

    Selected InterPro protein domains (see all 6):
     IPR001763 Rhodanese-like_dom
     IPR009036 Molybdenum_cofac_synth_MoeB
     IPR000594 ThiF_NAD_FAD-bd
     IPR007901 MoeZ_MoeB
     IPR016040 NAD(P)-bd_dom

    Graphical View of Domain Structure for InterPro Entry O95396

    ProtoNet protein and cluster: O95396

    3 Blocks protein domains:
    IPB000594 UBA/THIF-type NAD/FAD binding fold
    IPB001763 Rhodanese-like
    IPB007901 MoeZ/MoeB


    UniProtKB/Swiss-Prot: MOCS3_HUMAN, O95396
    Similarity: In the N-terminal section; belongs to the HesA/MoeB/ThiF family. UBA4 subfamily
    Similarity: Contains 1 rhodanese domain


    Find genes that share domains with MOCS3           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: MOCS3_HUMAN, O95396
    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
    Catalytic activity: ATP + [molybdopterin-synthase sulfur-carrier protein]-Gly-Gly = diphosphate +
    [molybdopterin-synthase sulfur-carrier protein]-Gly-Gly-AMP
    Catalytic activity: [Molybdopterin-synthase sulfur-carrier protein]-Gly-Gly-AMP + [cysteine
    desulfurase]-S-sulfanyl-L-cysteine = AMP + [molybdopterin-synthase sulfur-carrier protein]-Gly-NH-CH(2)-C(O)SH +
    cysteine desulfurase
    Biophysicochemical properties: Kinetic parameters: KM=0.25 mM for thiosulfate; KM=0.28 mM for cyanide;

         Gene Ontology (GO): Selected molecular function terms (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003824catalytic activity ----
    GO:0004792thiosulfate sulfurtransferase activity IMP15073332
    GO:0005515protein binding IPI18650437
    GO:0005524ATP binding IEA--
    GO:0016779nucleotidyltransferase activity IDA19017811
         
    Find genes that share ontologies with MOCS3           About GenesLikeMe


    Animal Models:
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    miRNA
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    hsa-mir-7-5p (MIRT047768)

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    3 qRT-PCR Assays for microRNAs that regulate MOCS3:
    hsa-miR-4330 hsa-miR-330-3p hsa-miR-551b*
    SwitchGear 3'UTR luciferase reporter plasmidMOCS3 3' UTR sequence
    Inhib. RNA
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    MOCS3_HUMAN, O95396: Cytoplasm
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol5
    plasma membrane3

    Gene Ontology (GO): 1 cellular component term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005829cytosol TAS--

    Find genes that share ontologies with MOCS3           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for MOCS3 About    
    See pathways by source

    SuperPathSelected contained pathways About (see all per SuperPath)
    1Defective BTD causes biotidinase deficiency
    Defective BTD causes biotidinase deficiency1.00
    Metabolism of vitamins and cofactors1.00
    Defective AMN causes hereditary megaloblastic anemia 11.00
    Defective MMACHC causes methylmalonic aciduria and homocystinuria type cblC1.00
    Defective MMAA causes methylmalonic aciduria type cblA1.00
    Defective MUT causes methylmalonic aciduria mut type1.00
    Defective CD320 causes methylmalonic aciduria1.00
    Defects in cobalamin (B12) metabolism1.00
    2Metabolism
    Metabolism0.38
    3Sulfur relay system
    Sulfur relay system
    4Disease
    Disease


    Find genes that share SuperPaths with MOCS3           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 BioSystems Pathway for MOCS3
        molybdenum cofactor biosynthesis


    1 Reactome Pathway for MOCS3
        Molybdenum cofactor biosynthesis


    1 Kegg Pathway  (Kegg details for MOCS3):
        Sulfur relay system

    UniProtKB/Swiss-Prot: MOCS3_HUMAN, O95396
    Pathway: tRNA modification; 5-methoxycarbonylmethyl-2-thiouridine-tRNA biosynthesis
    Pathway: Cofactor biosynthesis; molybdopterin biosynthesis

        Pathway & Disease-focused RT2 Profiler PCR Array including MOCS3: 

              Ubiquitination (Ubiquitylation) Pathway in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for MOCS3

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for MOCS3 (O953963 ENSP000002440514) via UniProtKB, MINT, STRING, and/or I2D (see all 108)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    EXOSC6Q5RKV63, ENSP000003985974I2D: score=3 STRING: ENSP00000398597
    COQ5Q5HYK33, ENSP000002885324I2D: score=2 STRING: ENSP00000288532
    EEF1A1P681043, ENSP000003300544I2D: score=2 STRING: ENSP00000330054
    ELP3Q9H9T33, ENSP000002563984I2D: score=1 STRING: ENSP00000256398
    FA2HQ7L5A83, ENSP000002193684I2D: score=1 STRING: ENSP00000219368
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0002098tRNA wobble uridine modification IDA19017811
    GO:0002143tRNA wobble position uridine thiolation IEA--
    GO:0006766vitamin metabolic process TAS--
    GO:0006767water-soluble vitamin metabolic process TAS--
    GO:0006777Mo-molybdopterin cofactor biosynthetic process IDA15073332

    Find genes that share ontologies with MOCS3           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for MOCS3

    1 HMDB Compound for MOCS3    About this table
    CompoundSynonyms CAS #PubMed Ids
    MolybdopterinMoCo (see all 6)73508-07-3--

    4 Novoseek inferred chemical compound relationships for MOCS3 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    molybdopterin 89.6 4 15073332 (2), 17459099 (1)
    molybdenum 83.1 2 17459099 (1), 18491921 (1)
    thiosulfate 81.4 7 17459099 (4), 15073332 (1), 18491921 (1)
    sulfur 58.3 6 17459099 (3), 18491921 (2), 15073332 (1)



    Find genes that share compounds with MOCS3           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for MOCS3 gene: 
    NM_014484.4  

    Unigene Cluster for MOCS3:

    Molybdenum cofactor synthesis 3
    Hs.159410  [show with all ESTs]
    Unigene Representative Sequence: NM_014484
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000244051(uc002xvy.1)
    miRNA
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    Additional mRNA sequence: 

    AF102544.1 BC015939.2 

    2 DOTS entries:

    DT.421455  DT.91643224 

    Selected AceView cDNA sequences (see all 48):

    CR599749 CA398233 BF983991 AA344580 Z39705 NM_014484 AF102544 AW515066 
    BM463656 CA398234 BM549033 BQ067918 BG575183 BM463683 BI826026 BG119171 
    W52284 BU189287 BC015939 BX438946 BQ013686 CA488671 BQ188547 BI766673 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    MOCS3 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTTGTCAGGC
    MOCS3 Expression
    About this image

    MOCS3 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    MOCS3 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.159410
        Pathway & Disease-focused RT2 Profiler PCR Array including MOCS3: 
              Ubiquitination (Ubiquitylation) Pathway in human mouse rat

    Primer
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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MOCS3

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for MOCS3 gene from Selected species (see all 22)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Mocs31 , 5 molybdenum cofactor synthesis 31, 5 77.97(n)1
    79.78(a)1
      2 (88.50 cM)5
    693721  NM_001160330.11  NP_001153802.11 
     1682306225 
    chicken
    (Gallus gallus)
    Aves MOCS31 molybdenum cofactor synthesis 3 64.63(n)
    65.14(a)
      769390  XM_001232655.3  XP_001232656.1 
    lizard
    (Anolis carolinensis)
    Reptilia MOCS36
    molybdenum cofactor synthesis 3
    67(a)
    1 ↔ 1
    GL343226.1(2008941-2010158)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia AL871169.22   -- 70.29(n)    AL871169.2 
    zebrafish
    (Danio rerio)
    Actinopterygii BC042324.12   -- 73.6(n)   393095  BC042324.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG130901 , 3 Mo-molybdopterin cofactor biosynthesis
    Mo-molybdopterin more3
    CG130901
    49(a)3
    53.08(n)1
    51.25(a)1
      29D43
    341871  NM_001273326.11  NP_001260255.11 
    worm
    (Caenorhabditis elegans)
    Secernentea F42G8.63
    moc-31
    molybdenum/thiazole biosynthesis
    cofactor3
    moc-31
    45(a)3
    49.58(n)1
    46.95(a)1
      IV(8130708-8131897)3
    1776071  NM_068958.51  NP_501359.11 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes UBA4(YHR111W)4
    UBA41
    Protein that activates Urm1p before its conjugation more4
    UBA41
    46.48(n)1
    41.75(a)1
      8(333072-334394)4
    8565111, 4  NP_011979.11, 4 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons CNX51 CNX5 48.42(n)
    44.14(a)
      835604  NM_124895.2  NP_200324.1 
    rice
    (Oryza sativa)
    Liliopsida Os02g05254001 Os02g0525400 52.42(n)
    44.44(a)
      4329515  NM_001053527.1  NP_001046992.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for MOCS3 gene
    UBA52  

    Find genes that share paralogs with MOCS3           About GenesLikeMe


    2 Pseudogenes.org Pseudogenes for MOCS3
    PGOHUM00000248388 PGOHUM00000248197


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for MOCS3 (see all 47)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 20 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1468943311,2
    C--49577076(+) CACCTC/TCCCCA 1 -- ut310--------
    rs115427541,2
    C--49577149(+) TAAGAA/GATTCT 1 -- ut312Minor allele frequency- G:0.00NA 4
    rs1855273481,2
    --49577367(+) CCTCCA/GCCTCC 1 -- ut310--------
    rs1126529981,2
    C,F--49577425(+) ACAGGC/TGCACG 1 -- ut311Minor allele frequency- T:0.50WA 2
    rs1417785691,2
    --49577492(+) GTCAGG/TCTGGT 1 -- ut310--------
    rs1470864781,2
    --49577530(+) TGCCTC/TGACTT 1 -- ut310--------
    rs742746271,2
    C,F--49577558(+) ACAGGC/TGTGAG 1 -- ut313Minor allele frequency- T:0.10NA EA 242
    rs21435381,2
    --49577656(+) TGTTTC/TCTTAA 1 -- ut310--------
    rs114698241,2
    C--49577863(+) TTTAC-/TTAACATT 1 -- cds10--------
    rs1380074181,2
    --49577945(+) TGTGAA/GTGCCT 1 -- ut310--------

    HapMap Linkage Disequilibrium report for MOCS3 (49575363 - 49577820 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for MOCS3:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv834002CNV Loss17160897

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing MOCS3
    DNA2.0 Custom Variant and Variant Library Synthesis for MOCS3

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 609277    OMIM disorders: --

    9 diseases for MOCS3:    
    About MalaCards
    methylmalonic aciduria and homocystinuria type cble    methylmalonic aciduria and homocystinuria type cblg    methylmalonic aciduria and homocystinuria type cblc    intrinsic factor deficiency
    methylmalonic aciduria and homocystinuria type cbld    methylmalonic aciduria and homocystinuria type cblf    choanal atresia    cblg
    molybdenum cofactor deficiency

    1 disease from the University of Copenhagen DISEASES database for MOCS3:
    Choanal atresia

    Find genes that share disorders with MOCS3           About GenesLikeMe


    Export disorders for MOCS3 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for MOCS3 gene, integrated from 10 sources (see all 20):
    (articles sorted by number of sources associating them with MOCS3)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Molybdenum cofactor biosynthesis in humans: identification of a persulfide group in the rhodanese-like domain of MOCS3 by mass spectrometry. (PubMed id 15910006)1, 2, 3 Matthies A.... Leimkuehler S. (Biochemistry 2005)
    2. 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. (PubMed id 17459099)1, 2, 9 Krepinsky K. and Leimkuehler S. (FEBS J. 2007)
    3. Evidence for the physiological role of a rhodanese-like protein for the biosynthesis of the molybdenum cofactor in humans. (PubMed id 15073332)1, 2, 9 Matthies A.... Leimkuehler S. (Proc. Natl. Acad. Sci. U.S.A. 2004)
    4. A novel role for human Nfs1 in the cytoplasm: Nfs1 acts as a sulfur donor for MOCS3, a protein involved in molybdenum cofactor biosynthesis. (PubMed id 18650437)1, 2 Marelja Z.... Leimkuehler S. (J. Biol. Chem. 2008)
    5. A functional proteomics approach links the ubiquitin-related modifier Urm1 to a tRNA modification pathway. (PubMed id 19017811)1, 2 Schlieker C.D....Ploegh H.L. (Proc. Natl. Acad. Sci. U.S.A. 2008)
    6. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    7. The DNA sequence and comparative analysis of human chromosome 20. (PubMed id 11780052)1, 2 Deloukas P....Rogers J. (Nature 2001)
    8. The sulfurtransferase activity of Uba4 presents a link between ubiquitin-like protein conjugation and activation of sulfur carrier proteins. (PubMed id 18491921)1, 9 Schmitz J.... Leimkuehler S. (Biochemistry 2008)
    9. Mutations in the molybdenum cofactor biosynthetic genes MOCS1, MOCS2, and GEPH. (PubMed id 12754701)1, 9 Reiss J. and Johnson J.L. (Hum. Mutat. 2003)
    10. The proteomic analysis of endogenous FAT10 substrates identifies p62/SQSTM1 as a substrate of FAT10ylation. (PubMed id 22797925)1 Aichem A....Groettrup M. (J. Cell. Sci. 2012)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 27304 HGNC: 15765 AceView: MOCS3 Ensembl:ENSG00000124217 euGenes: HUgn27304
    ECgene: MOCS3 Kegg: 27304 H-InvDB: MOCS3

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for MOCS3 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for MOCS3 gene:
    Search GeneIP for patents involving MOCS3

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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