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MOCS1 Gene(Protein Coding)

Molybdenum Cofactor Synthesis 1

GCID:
GC06M039899
GIFtS:
59
Genes Participants
UDN Logo

Aliases for MOCS1 Gene

Aliases for MOCS1 Gene

  • Molybdenum Cofactor Synthesis 1 2 3 5
  • Molybdenum Cofactor Synthesis-Step 1 Protein A-B 3 4
  • Cell Migration-Inducing Gene 11 Protein 3 4
  • Molybdenum Cofactor Biosynthesis Protein A 3
  • Migration-Inducing Gene 11 Protein 3
  • MOCS1A Enzyme 3
  • MOCODA 3
  • MIG11 3
  • MOCOD 3

External Ids for MOCS1 Gene

Previous GeneCards Identifiers for MOCS1 Gene

  • GC06M039875
  • GC06M039919
  • GC06M039920
  • GC06M039975
  • GC06M039589

Summaries for MOCS1 Gene

Entrez Gene Summary for MOCS1 Gene

  • 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]

GeneCards Summary for MOCS1 Gene

MOCS1 (Molybdenum Cofactor Synthesis 1) is a Protein Coding gene. Diseases associated with MOCS1 include Molybdenum Cofactor Deficiency A and Molybdenum Cofactor Deficiency. Among its related pathways are Metabolism of water-soluble vitamins and cofactors and Folate biosynthesis. GO annotations related to this gene include GTP binding and iron-sulfur cluster binding.

UniProtKB/Swiss-Prot for MOCS1 Gene

  • 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 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MOCS1 Gene

Genomics for MOCS1 Gene

Products:

  1. Regulatory Element

Regulatory Elements for MOCS1 Gene

Enhancers for MOCS1 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around MOCS1 on UCSC Golden Path with GeneCards custom track

Promoters for MOCS1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around MOCS1 on UCSC Golden Path with GeneCards custom track

Transcription factor binding sites by QIAGEN in the MOCS1 gene promoter:

Genomic Location for MOCS1 Gene

Chromosome:
6
Start:
39,899,578 bp from pter
End:
39,934,551 bp from pter
Size:
34,974 bases
Orientation:
Minus strand

Genomic View for MOCS1 Gene

Genes around MOCS1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MOCS1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MOCS1 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for MOCS1 Gene

Proteins for MOCS1 Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • Protein details for MOCS1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NZB8-MOCS1_HUMAN
    Recommended name:
    Molybdenum cofactor biosynthesis protein 1
    Protein Accession:
    Q9NZB8
    Secondary Accessions:
    • B3KPT7
    • B4DTP1
    • O14940
    • O14941
    • O75710
    • Q5J7W0
    • Q5TCE1
    • Q5TCE2
    • Q5TCE6
    • Q5TCE9
    • Q5TCF0
    • Q5TCF1
    • Q8N418
    • Q9NZB7
    • Q9UEM1

    Protein attributes for MOCS1 Gene

    Size:
    636 amino acids
    Molecular mass:
    70105 Da
    Cofactor:
    Name=[4Fe-4S] cluster; Xref=ChEBI:CHEBI:49883;
    Quaternary structure:
    • Isoform MOCS1A and isoform MOCS1B probably form a heterooligomer.
    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.
    SequenceCaution:
    • Sequence=AAB87524.1; Type=Miscellaneous discrepancy; Note=Alternative splicing in the MOCS1A-MOCS1B joining region.; Evidence={ECO:0000305}; Sequence=AAS00489.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=CAC44526.1; Type=Miscellaneous discrepancy; Note=Alternative splicing in the MOCS1A-MOCS1B joining region.; Evidence={ECO:0000305}; Sequence=CAI20007.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=CAI20012.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=CAI20013.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Alternative splice isoforms for MOCS1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MOCS1 Gene

Proteomics data for MOCS1 Gene at MOPED

Protein Expression for MOCS1 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for MOCS1 Gene

  • 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 residue.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for MOCS1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for MOCS1 Gene

Domains & Families for MOCS1 Gene

Protein Domains for MOCS1 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for MOCS1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9NZB8

UniProtKB/Swiss-Prot:

MOCS1_HUMAN :
  • In the C-terminal section; belongs to the MoaC family.
Family:
  • In the C-terminal section; belongs to the MoaC family.
  • In the N-terminal section; belongs to the MoaA/NifB/PqqE family.
genes like me logo Genes that share domains with MOCS1: view

No data available for Gene Families for MOCS1 Gene

Function for MOCS1 Gene

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line
  7. Flow Cytometry

Molecular function for MOCS1 Gene

GENATLAS Biochemistry:
molybdenum cofactor synthesis,step 1,leading to precursor Z
UniProtKB/Swiss-Prot CatalyticActivity:
GTP = cyclic pyranopterin phosphate + diphosphate.
UniProtKB/Swiss-Prot 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 Ontology (GO) - Molecular Function for MOCS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0051536 iron-sulfur cluster binding IEA --
genes like me logo Genes that share ontologies with MOCS1: view

Phenotypes for MOCS1 Gene

GenomeRNAi human phenotypes for MOCS1:
genes like me logo Genes that share phenotypes with MOCS1: view

Human Phenotype Ontology for MOCS1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

miRNA for MOCS1 Gene

miRTarBase miRNAs that target MOCS1

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for MOCS1 Gene

Localization for MOCS1 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for MOCS1 Gene COMPARTMENTS Subcellular localization image for MOCS1 gene
Compartment Confidence
cytosol 5
nucleus 5

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for MOCS1 Gene

Pathways & Interactions for MOCS1 Gene

genes like me logo Genes that share pathways with MOCS1: view

UniProtKB/Swiss-Prot Q9NZB8-MOCS1_HUMAN

  • Pathway: Cofactor biosynthesis; molybdopterin biosynthesis.

Interacting Proteins for MOCS1 Gene

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000362282%0d%0a9606.ENSP00000380157%0d%0a9606.ENSP00000378890%0d%0a9606.ENSP00000419361%0d%0a9606.ENSP00000301825%0d%0a9606.ENSP00000293860%0d%0a
Selected Interacting proteins: ENSP00000362282 for MOCS1 Gene via STRING

Gene Ontology (GO) - Biological Process for MOCS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006777 Mo-molybdopterin cofactor biosynthetic process IEA,TAS 12754701
GO:0008152 metabolic process IEA --
GO:0032324 molybdopterin cofactor biosynthetic process TAS --
GO:0044281 small molecule metabolic process TAS --
genes like me logo Genes that share ontologies with MOCS1: view

No data available for SIGNOR curated interactions for MOCS1 Gene

Drugs & Compounds for MOCS1 Gene

Products:

  1. Drug

(4) Drugs for MOCS1 Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
S-Adenosylmethionine Approved Nutra 0
Diphosphate Experimental Pharma 0
Guanosine triphosphate Experimental Pharma 0

(4) Additional Compounds for MOCS1 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Cyclic pyranopterin monophosphate
Water
  • Dihydrogen oxide
  • Steam
 7732-18-5
genes like me logo Genes that share compounds with MOCS1: view

Transcripts for MOCS1 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone
  5. Flow Cytometry

mRNA/cDNA for MOCS1 Gene

(8) REFSEQ mRNAs :
(11) Additional mRNA sequences :
(143) Selected AceView cDNA sequences:
(9) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for MOCS1 Gene

Molybdenum cofactor synthesis 1:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for MOCS1 Gene

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: - - - -
SP6: -
SP7: - - - - - -
SP8: - - - - - -
SP9: - -

Relevant External Links for MOCS1 Gene

GeneLoc Exon Structure for
MOCS1
ECgene alternative splicing isoforms for
MOCS1

Expression for MOCS1 Gene

Products:

  1. Primer

mRNA expression in normal human tissues for MOCS1 Gene

mRNA expression in normal human tissues for MOCS1 Gene
mRNA expression by BioGPS for MOCS1 GenemRNA expression by GTEx for MOCS1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for MOCS1 Gene

This gene is overexpressed in Cervix (19.4), Bone marrow mesenchymal stem cell (10.2), Fetal Liver (9.6), and Plasma (8.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for MOCS1 Gene



SOURCE GeneReport for Unigene cluster for MOCS1 Gene Hs.718492

mRNA Expression by UniProt/SwissProt for MOCS1 Gene

Q9NZB8-MOCS1_HUMAN
Tissue specificity: Isoform MOCS1A and isoform 2 are widely expressed.
genes like me logo Genes that share expression patterns with MOCS1: view

Primer Products

No data available for mRNA differential expression in normal tissues and Protein tissue co-expression partners for MOCS1 Gene

Orthologs for MOCS1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for MOCS1 Gene

Organism Taxonomy Gene Similarity Type Details
dog
(Canis familiaris)
 Mammalia MOCS1 35
  • 90.74 (n)
  • 91.95 (a)
MOCS1 36
  • 52 (a)
 OneToOne
cow
(Bos Taurus)
 Mammalia MOCS1 36
  • 52 (a)
 OneToOne
oppossum
(Monodelphis domestica)
 Mammalia MOCS1 36
  • 49 (a)
 OneToOne
mouse
(Mus musculus)
 Mammalia Mocs1 36
  • 51 (a)
 OneToOne
platypus
(Ornithorhynchus anatinus)
 Mammalia MOCS1 36
  • 44 (a)
 OneToOne
chimpanzee
(Pan troglodytes)
 Mammalia MOCS1 36
  • 51 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves MOCS1 36
  • 46 (a)
 OneToOne
lizard
(Anolis carolinensis)
 Reptilia MOCS1 36
  • 74 (a)
 OneToOne
zebrafish
(Danio rerio)
 Actinopterygii mocs1 35
  • 70.2 (n)
  • 77.88 (a)
mocs1 36
  • 73 (a)
 OneToOne
fruit fly
(Drosophila melanogaster)
 Insecta Mocs1 36
  • 35 (a)
 OneToOne
worm
(Caenorhabditis elegans)
 Secernentea F49E2.1a 37
  • 55 (a)
F49E2.1b 37
  • 55 (a)
F49H6.5 37
  • 55 (a)
F49E2.1 36
  • 29 (a)
 OneToMany
F49H6.5 36
  • 47 (a)
 OneToMany
wheat
(Triticum aestivum)
 Liliopsida Ta.8717 35
corn
(Zea mays)
 Liliopsida Zm.4345 35
sea squirt
(Ciona savignyi)
 Ascidiacea -- 36
  • 19 (a)
 OneToMany
-- 36
  • 62 (a)
 OneToMany
Species with no ortholog for MOCS1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • 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)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)

Evolution for MOCS1 Gene

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

Paralogs for MOCS1 Gene

Pseudogenes.org Pseudogenes for MOCS1 Gene

genes like me logo Genes that share paralogs with MOCS1: view

No data available for Paralogs for MOCS1 Gene

Variants for MOCS1 Gene

Sequence variations from dbSNP and Humsavar for MOCS1 Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type
VAR_015658 Molybdenum cofactor deficiency, complementation group A (MOCODA)
VAR_015659 Molybdenum cofactor deficiency, complementation group A (MOCODA)
VAR_015660 Molybdenum cofactor deficiency, complementation group A (MOCODA)
VAR_015661 Molybdenum cofactor deficiency, complementation group A (MOCODA)
VAR_015662 Molybdenum cofactor deficiency, complementation group A (MOCODA)

Structural Variations from Database of Genomic Variants (DGV) for MOCS1 Gene

Variant ID Type Subtype PubMed ID
esv2649617 CNV Insertion 19546169
nsv512878 CNV Insertion 21212237

Variation tolerance for MOCS1 Gene

Residual Variation Intolerance Score: 61.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.75; 78.88% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for MOCS1 Gene

Human Gene Mutation Database (HGMD)
MOCS1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MOCS1 Gene

Disorders for MOCS1 Gene

MalaCards: The human disease database

(7) MalaCards diseases for MOCS1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
molybdenum cofactor deficiency a
  • molybdenum cofactor deficiency, type a
molybdenum cofactor deficiency
  • combined deficiency of sulfite oxidase, xanthine dehydrogenase, and aldehyde oxidase
sulfite oxidase deficiency due to molybdenum cofactor deficiency type a
  • combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase type a
encephalomalacia
isolated sulfite oxidase deficiency
  • sulfocysteinuria
- elite association - COSMIC cancer census association via MalaCards
Search MOCS1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

MOCS1_HUMAN
  • Molybdenum cofactor deficiency, complementation group A (MOCODA) [MIM:252150]: An autosomal recessive metabolic disorder leading to the pleiotropic loss of molybdoenzyme activities. It is clinically characterized by onset in infancy of poor feeding, intractable seizures, severe psychomotor retardation, and death in early childhood in most patients. {ECO:0000269 PubMed:12754701, ECO:0000269 PubMed:16021469, ECO:0000269 PubMed:9731530, ECO:0000269 PubMed:9921896}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Genatlas disease for MOCS1 Gene

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

Relevant External Links for MOCS1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
MOCS1
genes like me logo Genes that share disorders with MOCS1: view

Publications for MOCS1 Gene

  1. Mutations in a polycistronic nuclear gene associated with molybdenum cofactor deficiency. (PMID: 9731530) Reiss J.P. … Dierks T. (Nat. Genet. 1998) 2 3 4 23 67
  2. Human molybdopterin synthase gene: genomic structure and mutations in molybdenum cofactor deficiency type B. (PMID: 10053004) Reiss J. … Zabot M.-T. (Am. J. Hum. Genet. 1999) 2 3 23
  3. An unusual genetic variant in the MOCS1 gene leads to complete missplicing of an alternatively spliced exon in a patient with molybdenum cofactor deficiency. (PMID: 19544009) Arenas M. … Marinaki A.M. (J. Inherit. Metab. Dis. 2009) 3 23
  4. A Turkish case with molybdenum cofactor deficiency. (PMID: 17065069) Ichida K. … Hosoya T. (Nucleosides Nucleotides Nucleic Acids 2006) 3 23
  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. (PMID: 16021469) Leimkuehler S. … Reiss J. (Hum. Genet. 2005) 3 23

Products for MOCS1 Gene

Sources for MOCS1 Gene

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