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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

MOCS1 Gene

protein-coding   GIFtS: 59
GCID: GC06M039920

molybdenum cofactor synthesis 1

 Explore 10 diseases affiliated with
MOCS1 via our new
 Human Malady Compendium 
Biological research products
for MOCS1
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

Aliases
Molybdenum Cofactor Synthesis 11 2     Migration-Inducing Gene 11 Protein2
MOCOD1 2 5     MOCS1A Enzyme2
Cell Migration-Inducing Gene 11 Protein2 3     Molybdenum Cofactor Biosynthesis Protein 12
Molybdenum Cofactor Synthesis-Step 1 Protein A-B2 3     Molybdenum Cofactor Biosynthesis Protein A2
MIG112     

External Ids:    HGNC: 71901   Entrez Gene: 43372   Ensembl: ENSG000001246157   OMIM: 6037075   UniProtKB: Q9NZB83   
ORGUL members:         
NONCODE:n409104    

Export aliases for MOCS1 gene to outside databases

Previous GC identifers: GC06M039875 GC06M039919 GC06M039975 GC06M039589


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for MOCS1:
Molybdenum cofactor biosynthesis is a conserved pathway leading to the biological activation of molybdenum. The protein
encoded by this gene is involved in this pathway. This gene was originally thought to produce a bicistronic mRNA with
the potential to produce two proteins (MOCS1A and MOCS1B) from adjacent open reading frames. However, only the first
open reading frame (MOCS1A) has been found to encode a protein from the putative bicistronic mRNA, whereas additional
splice variants, whose full-length natures have yet to be determined, are likely to produce a fusion between the two
open reading frames. This gene is defective in patients with molybdenum cofactor deficiency, type A. A related
pseudogene has been identified on chromosome 16. (provided by RefSeq, Jan 2010)

UniProtKB/Swiss-Prot: MOCS1_HUMAN, Q9NZB8
Function: Isoform MOCS1A and isoform MOCS1B probably form a complex that catalyzes the conversion of 5'-GTP to cyclic
pyranopterin monophosphate (cPMP or molybdopterin precursor Z)

Gene Wiki entry for MOCS1


(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000006.11  NC_018917.1  NT_007592.15  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the MOCS1 gene promoter:
         PPAR-gamma1   AML1a   Olf-1   PPAR-gamma2   NF-kappaB1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): MOCS1 promoter sequence
   Search SABiosciences Chromatin IP Primers for MOCS1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat MOCS1


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

Entrez Gene cytogenetic band: 6p21.3   Ensembl cytogenetic band:  6p21.2   HGNC cytogenetic band: 6p21.2

MOCS1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MOCS1 gene location

GeneLoc information about chromosome 6         GeneLoc Exon Structure

GeneLoc location for GC06M039920:  view genomic region     (about GC identifiers)

Start:
39,867,354 bp from pter      End:
39,902,290 bp from pter
Size:
34,937 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: MOCS1_HUMAN, Q9NZB8 (See protein sequence)
Recommended Name: Molybdenum cofactor biosynthesis protein 1  
Size: 636 amino acids; 70105 Da
Cofactor: Binds 2 4Fe-4S clusters. Binds 1 4Fe-4S cluster coordinated with 3 cysteines and an exchangeable
S-adenosyl-L-methionine and 1 4Fe-4S cluster coordinated with 3 cysteines and the GTP-derived substrate
Subunit: Isoform MOCS1A and isoform MOCS1B probably form a heterooligomer (Probable)
Miscellaneous: The MOCS1 locus has initially been reported to produce MOCS1A and MOCS1B from non-overlapping reading
frames within a bicistronic transcript. However, only isoform MOCS1A seems to be translated from the bicistronic
transcript. Isoform MOCS1B seems to be translated from a monocistronic mRNA that is derived by alternative splicing
Sequence caution: Sequence=AAB87524.1; Type=Miscellaneous discrepancy; Note=Alternative splicing in the MOCS1A-MOCS1B
joining region; Sequence=AAS00489.1; Type=Erroneous initiation; Sequence=CAC44526.1; Type=Miscellaneous discrepancy;
Note=Alternative splicing in the MOCS1A-MOCS1B joining region; Sequence=CAI20007.1; Type=Erroneous gene model
prediction; Sequence=CAI20012.1; Type=Erroneous gene model prediction; Sequence=CAI20013.1; Type=Erroneous gene model
prediction;
Secondary accessions: B3KPT7 B4DTP1 O14940 O14941 O75710 Q5J7W0 Q5TCE1 Q5TCE2 Q5TCE6 Q5TCE9 Q5TCF0
Q5TCF1 Q8N418 Q9NZB7 Q9UEM1
Alternative splicing: 8 isoforms:  Q9NZB8-1   Q9NZB8-5   Q9NZB8-6   Q9NZB8-3   Q9NZB8-4   Q9NZB8-2   Q9NZB8-7   Q9NZB8-8   
(Multidomain protein with inactive MOCS1A and active MOCS1B)

Explore the universe of human proteins at neXtProt for MOCS1: NX_Q9NZB8

Post-translational modifications:

  • Isoform MOCS1A, isoform 2 and isoform 3 are probably thiocarboxylated at their C-terminus. Thiocarboxylation probably
  • plays a central role in molybdenum cofactor biosynthesis, since mutagenesis of the last 2 Gly residues of isoform
    MOCS1A abolishes the catalytic activity of the enzyme. Thiocarboxylation is absent in isoform MOCS1B, which lacks the
    C-terminal Gly residue1
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q9NZB8

  • MOCS1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins (2 alternative transcripts): 
    NP_001068566.1  NP_005934.2  

    ENSEMBL proteins: 
     ENSP00000362277   ENSP00000362282   ENSP00000362284   ENSP00000362291   ENSP00000344794  
     ENSP00000416478   ENSP00000410809   ENSP00000418315   ENSP00000309843   ENSP00000362270  
    Reactome Protein details: Q9NZB8
    Human Recombinant Protein Products: 
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    Uscn Proteins for MOCS1

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus NAS9731530
    GO:0005829cytosol TAS--
    GO:0019008molybdopterin synthase complex IEA--


    MOCS1 for ontologies           About GeneDecksing



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    Uscn ELISAs and CLIAs for MOCS1


    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    MOCS1 for domains           About GeneDecksing

    5/9 InterPro domains/families (see all 9):
     IPR013785 Aldolase_TIM
     IPR013483 MoaA
     IPR007197 rSAM
     IPR023045 Mo_CF_biosynth-C
     IPR010505 Mob_synth_C

    Graphical View of Domain Structure for InterPro Entry Q9NZB8

    ProtoNet protein and cluster: Q9NZB8

    3 Blocks protein families:
    IPB000385 MoaA/nifB/pqqE family
    IPB002820 Molybdopterin cofactor biosynthesis protein MoaC
    IPB006638 Elongator protein 3/MiaB/NifB


    UniProtKB/Swiss-Prot: MOCS1_HUMAN, Q9NZB8
    Similarity: In the C-terminal section; belongs to the MoaC family
    Similarity: In the N-terminal section; belongs to the MoaA/NifB/PqqE family


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         UniProtKB/Swiss-Prot: MOCS1_HUMAN, Q9NZB8
    Function: Isoform MOCS1A and isoform MOCS1B probably form a complex that catalyzes the conversion of 5'-GTP to cyclic
    pyranopterin monophosphate (cPMP or molybdopterin precursor Z)
    Catalytic activity: GTP = cyclic pyranopterin monophosphate + diphosphate

         Genatlas biochemistry entry for MOCS1:
    molybdenum cofactor synthesis,step 1,leading to precursor Z

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    SwitchGear 3'UTR luciferase reporter plasmidMOCS1 3' UTR sequence
    Inhib. RNA
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    Gene Ontology (GO): 5 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003824catalytic activity ----
    GO:0005525GTP binding IEA--
    GO:0016829lyase activity IEA--
    GO:0046872metal ion binding IEA--
    GO:00515394 iron, 4 sulfur cluster binding IEA--


    MOCS1 for ontologies           About GeneDecksing


    3 GenomeRNAi human phenotypes for MOCS1:
     Decreased NANOG protein expres  Decreased OCT4 protein express  Decreased POU5F1-GFP protein e 

    Animal Models:
         Mouse knock-out Mocs1tm1Jre for MOCS1
         5 MGI mutant phenotypes (inferred from 1 allele(MGI details for Mocs1):
     growth/size  homeostasis/metabolism  integument  mortality/aging  renal/urinary system 

    MOCS1 for phenotypes           About GeneDecksing


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Metabolism
    Metabolism1.00
    Metabolic pathways0.38
    2Molybdenum cofactor biosynthesis
    Molybdenum cofactor biosynthesis1.00
    Sulfur relay system0.33
    3Vitamin B5 (pantothenate) metabolism
    Metabolism of vitamins and cofactors0.21
    Metabolism of water-soluble vitamins and cofactors0.21
    4Folate biosynthesis
    Folate biosynthesis1.00

    Pathway sources
    See GeneCards unified pathways
    Show all pathways


    4        Reactome Pathways for MOCS1
        Molybdenum cofactor biosynthesis
    Metabolism
    Metabolism of vitamins and cofactors
    Metabolism of water-soluble vitamins and cofactors


    3         Kegg Pathways  (Kegg details for MOCS1):
        Folate biosynthesis
    Metabolic pathways
    Sulfur relay system

    UniProtKB/Swiss-Prot: MOCS1_HUMAN, Q9NZB8
    Pathway: Cofactor biosynthesis; molybdopterin biosynthesis


    MOCS1 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for MOCS1

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

    5/68 Interacting proteins for MOCS1 (ENSP000003622824) via UniProtKB, MINT, STRING, and/or I2D (see all 68)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    GCH1ENSP000003788904STRING: ENSP00000378890
    ADCY1ENSP000002973234STRING: ENSP00000297323
    ADCY10ENSP000003568254STRING: ENSP00000356825
    ADCY2ENSP000003429524STRING: ENSP00000342952
    ADCY3ENSP000002606004STRING: ENSP00000260600
    About this table

    Gene Ontology (GO): 5 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006766vitamin metabolic process TAS--
    GO:0006767water-soluble vitamin metabolic process TAS--
    GO:0006777Mo-molybdopterin cofactor biosynthetic process TAS12754701
    GO:0032324molybdopterin cofactor biosynthetic process TAS--
    GO:0044281small molecule metabolic process TAS--


    MOCS1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    MOCS1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for MOCS1

    2 HMDB Compounds for MOCS1    About this table
    CompoundSynonyms CAS #PubMed Ids
    Guanosine triphosphate5'-GTP (see all 10)86-01-1--
    S-Adenosylmethionine(3S)-5'-[(3-amino-3-carboxypropyl)methylsulfonio]-5'-deoxyadenosine (see all 16)29908-03-0--
    3 Novoseek chemical compound relationships for MOCS1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    moco 95.4 5 9921896 (1), 9731530 (1), 10327149 (1), 12208140 (1) (see all 5)
    molybdopterin 91.3 5 11891227 (3), 11095995 (1)
    molybdenum 90.3 9 15180982 (1), 9921896 (1), 12533804 (1), 19544009 (1) (see all 8)

    Search CenterWatch for drugs/clinical trials and news about MOCS1 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for MOCS1 gene (4 alternative transcripts): 
    NM_001075098.3  NM_005943.5  NM_005942.3  NM_138928.3  

    Unigene Cluster for MOCS1:

    Molybdenum cofactor synthesis 1
    Hs.718492  [show with all ESTs]
    Unigene Representative Sequence: NM_005943
    11 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000373181 ENST00000373186(uc003opa.3 uc003opb.3) ENST00000373188
    ENST00000373195 ENST00000340692 ENST00000425303 ENST00000432280 ENST00000473742
    ENST00000487924 ENST00000308559(uc003opd.3 uc003ope.3) ENST00000373175


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    hsa-miR-15a hsa-miR-485-3p hsa-miR-138-2* hsa-miR-4267 hsa-miR-3116 hsa-miR-200b hsa-miR-2113 hsa-miR-647
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    Additional cDNA sequence: 

    AF034374.1 AF214015.1 AF214022.1 AF214023.1 AJ224328.1 AK056740.1 AK091306.1 AK300300.1 
    AY423726.1 BC036839.1 NR_033233.1 

    10 DOTS entries:

    DT.101983952  DT.97805401  DT.113416  DT.100719597  DT.95129518  DT.121366653  DT.97782304  DT.100735788 
    DT.95266002  DT.121366689 

    24/143 AceView cDNA sequences (see all 143):

    AU141382 AL570709 AI810920 AU158894 CA976127 BM717089 BE302653 CR610341 
    AF214023 AA886744 BQ345325 AL695479 AL602617 AF034374 BM694201 CA944911 
    AU102241 AI122656 CA396934 AF214022 BM674470 AU102242 AK125892 BU931305 

    GeneLoc Exon Structure

    5/9 Alternative Splicing Database (ASD) splice patterns (SP) for MOCS1 (see all 9)    About this scheme

    ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4a · 4b · 4c · 4d ^ 5a · 5b ^ 6 ^ 7 ^ 8a · 8b · 8c ^ 9 ^ 10a · 10b ^ 11 ^ 12 ^ 13a · 13b ^ 14a · 14b · 14c
    SP1:                          -     -                 -                 -                       -                                                               
    SP2:                                                  -                 -                       -                                                               
    SP3:                          -     -     -     -     -                 -                       -                                   -     -                     
    SP4:                                                                                            -                                         -                     
    SP5:                                -                 -                 -                       -                                                               


    ECgene alternative splicing isoforms for MOCS1

    (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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    MOCS1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GGCCATAGCC

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image

    MOCS1 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    1 LifeMap In Vivo Development Anatomical Compartment/Cell 
    Tissue Anatomical Compartment CellCategory (developmental path)
    AdiposeVisceral White AdiposeAdipose
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See MOCS1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for MOCS1

    SOURCE GeneReport for Unigene cluster: Hs.718492

    UniProtKB/Swiss-Prot: MOCS1_HUMAN, Q9NZB8
    Tissue specificity: Isoform MOCS1A and isoform 2 are widely expressed

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    (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)
    About This Section

    This gene was present in the last universal common ancestor (LUCA).

    Orthologs for MOCS1 gene from 9/26 species (see all 26)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Mocs15 molybdenum cofactor synthesis 1   --   17 (25.45 cM) 49428362 
    chicken
    (Gallus gallus)
    Aves F1N8A1_CHICK6
    Uncharacterized protein
    79(a)
    1 ↔ 1
    3(29908428-29939157)
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    --
    83(a)
    79(a)
    many → 1
    many → 1
    1(247232489-247238101)
    1(247254660-247256457)
    zebrafish
    (Danio rerio)
    Actinopterygii mocs11 molybdenum cofactor synthesis step-1 70.2(n)
    77.88(a)
      793471  NM_001105660.1  NP_001099130.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Mocs16
    Molybdenum cofactor synthesis 1 ortholog
    35(a)
    1 ↔ 1
    3L(11063626-11066448)
    worm
    (Caenorhabditis elegans)
    Secernentea F49E2.1a3 molybdenum cofactor biosynthesis protein 55(a)
    (best of 3)
      X(9598498-9601218)   --
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons CNX26
    Molybdopterin biosynthesis protein CNX2
    54(a)
    1 ↔ 1
    2(13584139-13586700)
    rice
    (Oryza sativa)
    Liliopsida AK065402.12   -- 74.31(n)    AK065402.1 
    E. coli
    (Escherichia coli)
    Gamma proteobacteria moaA6
    molybdopterin biosynthesis protein A
    37(a)
    1 ↔ 1
    Chromosome(816267-817256)


    ENSEMBL Gene Tree for MOCS1 (if available)
    TreeFam Gene Tree for MOCS1 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for MOCS1 gene

    MOCS1 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for MOCS1
    PGOHUM00000249122


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/680 NCBI SNPs in MOCS1 are shown (see all 680    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 6 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1048939701,2
    Cpathogenic74922147(-) ACCTGC/TGGATC 5 R W mis1 int11Minor allele frequency- T:0.00NA 4412
    rs1048939691,2
    Cpathogenic74938064(-) CCTGCA/GAATCA 5 Q R mis10--------
    rs1420425501,2
    C,Funknown74924523(+) TCCTCG/AGGCAT 5 /P syn11Minor allele frequency- A:0.00NA 4540
    rs412731341,2
    --39589488(+) TGAGGA/GCAAGA 3 -- ds50010--------
    rs734148471,2
    C,F,--39589757(+) GAAGCT/CGTTCA 3 -- ds50014Minor allele frequency- C:0.15WA CSA 124
    rs794470331,2
    --39589769(+) GATACA/GTTTGA 3 -- ds50011Minor allele frequency- G:0.01WA 118
    rs734148481,2
    C,F,--39590018(+) TAATAG/CGTTGT 3 -- nc-transcript-variantut314Minor allele frequency- C:0.15WA CSA 124
    rs737323161,2
    C,--39590037(+) CTTGCT/CTTCTT 3 -- ut31 nc-transcript-variant2Minor allele frequency- C:0.10WA 120
    rs30088161,2
    C,A,--39590053(+) CCTCCC/GCACTG 3 -- nc-transcript-variantut312Minor allele frequency- G:0.08CSA NA 121
    rs77444831,2
    A,H--39590645(+) aaattG/ATCTTT 3 -- nc-transcript-variantut314Minor allele frequency- A:0.00NS EA 406

    HapMap Linkage Disequilibrium report for MOCS1 (39867354 - 39902290 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 4 variations for MOCS1
         3 CNVs: 81379 81378 93690
         1 Indel: 99510
    Human Gene Mutation Database (HGMD): MOCS1

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    MOCS1 for disorders           About GeneDecksing

    OMIM gene information: 603707   
    OMIM disorders: 252150  
    UniProtKB/Swiss-Prot: MOCS1_HUMAN, Q9NZB8
  • Defects in MOCS1 are the cause of molybdenum cofactor deficiency type A (MOCOD type A) [MIM:252150]; an
  • autosomal recessive disease which leads to the pleiotropic loss of all molybdoenzyme activities and is characterized
    by severe neurological damage, neonatal seizures and early childhood death

    10 diseases for MOCS1:    About MalaCards
    molybdenum cofactor deficiency    molybdenum cofactor deficiency, type a    molybdenum cofactor deficiency, type b    sulfite oxidase deficiency
    encephalomalacia    autosomal recessive disease    hyperekplexia    seizures
    tuberculosis    mycobacterium tuberculosis

    1 Novoseek disease relationship for MOCS1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    molybdenum cofactor deficiency 98.3 5 9921896 (1), 12533804 (1), 19544009 (1), 10701843 (1) (see all 5)

    Genatlas disease: MOCS1
    molybdenum cofactor deficiency,type A,fatal disorder characterized by severe seizures,profound neurological
    abnormalities,and a combined deficiency of sulfite oxidase,xanthine dehydrogenase and aldehyde oxidase


    Export disorders for MOCS1 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)
    About This Section

    PubMed articles for MOCS1 gene, integrated from 9 sources (see all 29):
    (articles sorted by number of sources associating them with MOCS1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Mutations in a polycistronic nuclear gene associated with molybdenum cofactor deficiency. (PubMed id 9731530)1, 2, 3, 9 Reiss J.P.... Dierks T. (1998)
    2. Diverse splicing mechanisms fuse the evolutionarily conserved bicistronic MOCS1A and MOCS1B open reading frames. (PubMed id 10917590)1, 2, 9 Gray T.A. and Nicholls R.D. (2000)
    3. Functionality of alternative splice forms of the first enzymes involved in human molybdenum cofactor biosynthesis. (PubMed id 11891227)1, 2, 9 Haenzelmann P.... Mendel R.R. (2002)
    4. The bicistronic MOCS1 gene has alternative start codons on two mutually exclusive exons. (PubMed id 12208140)1, 2, 9 Gross-Hardt S. and Reiss J. (2002)
    5. 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. (PubMed id 16021469)1, 2, 9 Leimkuehler S.... Reiss J. (2005)
    6. Mutations in the molybdenum cofactor biosynthetic genes MOCS1, MOCS2, and GEPH. (PubMed id 12754701)1, 2, 9 Reiss J. and Johnson J.L. (2003)
    7. Genomic structure and mutational spectrum of the bicistronic MOCS1 gene defective in molybdenum cofactor deficiency type A. (PubMed id 9921896)1, 2, 9 Reiss J.P.... Dorche C. (1998)
    8. Human molybdopterin synthase gene: genomic structure and mutations in molybdenum cofactor deficiency type B. (PubMed id 10053004)1, 3, 9 Reiss J....Zabot M.T. (1999)
    9. Characterization of MOCS1A, an oxygen-sensitive iron-sulfur protein involved in human molybdenum cofactor biosynthesis. (PubMed id 15180982)1, 2, 9 Haenzelmann P.... Schindelin H. (2004)
    10. 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. (2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    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)
    About This Section
    Entrez Gene: 4337 HGNC: 7190 AceView: MOCS1 Ensembl:ENSG00000124615 euGenes: HUgn4337
    ECgene: MOCS1 Kegg: 4337 H-InvDB: MOCS1

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for MOCS1 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/MOCS1

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for MOCS1 gene:
    Search GeneIP for patents involving MOCS1

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



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