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Aliases for MOCS1 Gene

Aliases for MOCS1 Gene

  • Molybdenum Cofactor Synthesis 1 2 3
  • Molybdenum Cofactor Synthesis-Step 1 Protein A-B 3 4
  • Cell Migration-Inducing Gene 11 Protein 3 4
  • MOCODA 3 6
  • Molybdenum Cofactor Biosynthesis Protein 1 3
  • Molybdenum Cofactor Biosynthesis Protein A 3
  • Migration-Inducing Gene 11 Protein 3
  • MOCS1A Enzyme 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 sulfite oxidase deficiency due to molybdenum cofactor deficiency type a. Among its related pathways are Disease and Metabolism. GO annotations related to this gene include GTP binding and lyase activity.

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

Regulatory Elements for MOCS1 Gene

Genomic Location for MOCS1 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for MOCS1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MOCS1 Gene

Proteins for MOCS1 Gene

  • 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; Note=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.;
    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

neXtProt entry for MOCS1 Gene

Proteomics data for MOCS1 Gene at MOPED

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

No data available for DME Specific Peptides for MOCS1 Gene

Domains for MOCS1 Gene

Graphical View of Domain Structure for InterPro Entry

Q9NZB8

UniProtKB/Swiss-Prot:

MOCS1_HUMAN :
  • Q9NZB8
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

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:0003824 catalytic activity --
GO:0005525 GTP binding IEA --
GO:0046872 metal ion binding IEA --
GO:0051536 iron-sulfur cluster binding --
GO:0051539 4 iron, 4 sulfur cluster binding IEA --
genes like me logo Genes that share ontologies with MOCS1: view
genes like me logo Genes that share phenotypes with MOCS1: view

Animal Models for MOCS1 Gene

MGI Knock Outs for MOCS1:

miRNA for MOCS1 Gene

miRTarBase miRNAs that target MOCS1

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting 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
nucleus 5
cytosol 4

Gene Ontology (GO) - Cellular Components for MOCS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus NAS 9731530
GO:0005829 cytosol TAS --
GO:0019008 molybdopterin synthase complex IEA --
genes like me logo Genes that share ontologies with MOCS1: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for MOCS1 Gene

Pathways for MOCS1 Gene

SuperPathways 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

Gene Ontology (GO) - Biological Process for MOCS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006766 vitamin metabolic process TAS --
GO:0006767 water-soluble vitamin metabolic process TAS --
GO:0006777 Mo-molybdopterin cofactor biosynthetic process TAS 12754701
GO:0008152 metabolic process --
GO:0032324 molybdopterin cofactor biosynthetic process TAS --
genes like me logo Genes that share ontologies with MOCS1: view

Compounds for MOCS1 Gene

(2) HMDB Compounds for MOCS1 Gene

Compound Synonyms Cas Number PubMed IDs
Guanosine triphosphate
  • 5'-GTP
86-01-1
S-Adenosylmethionine
  • (3S)-5'-[(3-amino-3-carboxypropyl)methylsulfonio]-5'-deoxyadenosine
29908-03-0

(3) Novoseek inferred chemical compound relationships for MOCS1 Gene

Compound -log(P) Hits PubMed IDs
moco 95.4 5
molybdopterin 91.3 4
molybdenum 90.3 8
genes like me logo Genes that share compounds with MOCS1: view

Transcripts for MOCS1 Gene

Unigene Clusters for MOCS1 Gene

Molybdenum cofactor synthesis 1:
Representative Sequences:

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

mRNA expression in normal human tissues for MOCS1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression 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 expressions with MOCS1: view

No data available for mRNA differential expression in normal tissues 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
chimpanzee
(Pan troglodytes)
Mammalia MOCS1 36
  • 51 (a)
OneToOne
cow
(Bos Taurus)
Mammalia MOCS1 36
  • 52 (a)
OneToOne
dog
(Canis familiaris)
Mammalia MOCS1 35
  • 90.74 (n)
  • 91.95 (a)
MOCS1 36
  • 52 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Mocs1 16
Mocs1 36
  • 51 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia MOCS1 36
  • 49 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MOCS1 36
  • 44 (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 F49E2.1 36
  • 29 (a)
OneToMany
F49H6.5 36
  • 47 (a)
OneToMany
F49E2.1a 37
  • 55 (a)
F49E2.1b 37
  • 55 (a)
F49H6.5 37
  • 55 (a)
corn
(Zea mays)
Liliopsida Zm.4345 35
wheat
(Triticum aestivum)
Liliopsida Ta.8717 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 MAF
rs11983 -- 39,905,672(-) GGACT(A/C)CTGCC utr-variant-3-prime, nc-transcript-variant
rs716856 -- 39,915,006(-) GGAAC(C/T)GGAGG intron-variant
rs1063171 -- 39,905,623(-) TCCAC(C/G)CACCC utr-variant-3-prime, nc-transcript-variant
rs1108399 -- 39,912,119(-) GGGGC(A/C)TGATG intron-variant
rs1109103 -- 39,911,327(+) CACAA(C/T)TGTAA intron-variant

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

Relevant External Links for MOCS1 Gene

HapMap Linkage Disequilibrium report
MOCS1
Human Gene Mutation Database (HGMD)
MOCS1

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

Disorders for MOCS1 Gene

(1) OMIM Diseases for MOCS1 Gene (603707)

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.

(1) Novoseek inferred disease relationships for MOCS1 Gene

Disease -log(P) Hits PubMed IDs
molybdenum cofactor deficiency 98.3 5

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
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
  2. Genomic structure and mutational spectrum of the bicistronic MOCS1 gene defective in molybdenum cofactor deficiency type A. (PMID: 9921896) Reiss J.P. … Dorche C. (Hum. Genet. 1998) 3 4 23
  3. 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
  4. Functionality of alternative splice forms of the first enzymes involved in human molybdenum cofactor biosynthesis. (PMID: 11891227) Haenzelmann P. … Mendel R.R. (J. Biol. Chem. 2002) 3 4 23
  5. The bicistronic MOCS1 gene has alternative start codons on two mutually exclusive exons. (PMID: 12208140) Gross-Hardt S. … Reiss J. (Mol. Genet. Metab. 2002) 3 4 23

Products for MOCS1 Gene

Sources for MOCS1 Gene

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