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 (MOCS1... See more...

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
  • Molybdenum Cofactor Biosynthesis Protein 1 3 4
  • Cell Migration-Inducing Gene 11 Protein 3 4
  • MOCOD 2 3
  • Molybdenum Cofactor Biosynthesis Protein A 3
  • MOCS1A Enzyme 3
  • MOCS1A 3
  • MOCS1B 3
  • MIG11 3
  • MOCS1 5

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 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, Nov 2017]

GeneCards Summary for MOCS1 Gene

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

UniProtKB/Swiss-Prot Summary for MOCS1 Gene

  • Isoform MOCS1A and isoform MOCS1B probably form a complex that catalyzes the conversion of 5'-GTP to cyclic pyranopterin monophosphate (cPMP). MOCS1A catalyzes the cyclization of GTP to (8S)-3',8-cyclo-7,8-dihydroguanosine 5'-triphosphate and MOCS1B catalyzes the subsequent conversion of (8S)-3',8-cyclo-7,8-dihydroguanosine 5'-triphosphate to cPMP.

Gene Wiki entry for MOCS1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for MOCS1 Gene

Genomics for MOCS1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for MOCS1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH06J039931 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 250.7 +1.2 1150 3.2 MYC SIX5 KLF9 ZIC2 POLR2A ZBTB10 YY1 MXD4 SMAD5 KLF11 LOC102723789 MOCS1 TUBBP9 lnc-DAAM2-1 HSALNG0049932 DAAM2
GH06J039879 Promoter/Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 16.5 +49.7 49734 9.8 JUND KLF11 HOMEZ THAP11 FOXA2 RXRA SMAD4 SAP130 MIER3 RARA DAAM2 MOCS1 DAAM2-AS1 lnc-MOCS1-6 HSALNG0049929
GH06J039862 Enhancer 0.8 Ensembl dbSUPER 15.7 +70.6 70567 3.6 ZNF654 IKZF1 ATF2 CTCF REST TRIM22 SMC3 YY1 RAD21 ZNF143 MOCS1 lnc-MOCS1-6 ENSG00000281969 DAAM2
GH06J039922 Enhancer 1 Ensembl ENCODE dbSUPER 10.7 +11.2 11172 1.6 ATF3 YY1 ZNF217 ELF1 CTBP1 FOXA2 RXRA ZBTB33 JUND SMARCE1 MOCS1 HSALNG0049932 DAAM2
GH06J039979 Enhancer 0.9 FANTOM5 Ensembl 9.6 -46.2 -46150 2.6 ZNF654 CEBPA REST TRIM22 CTCF MAFF RXRA RAD21 SMC3 ZNF316 MOCS1 DAAM2 RPL23P6 lnc-DAAM2-4 LOC102723789 TUBBP9 LRFN2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MOCS1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for MOCS1

Top Transcription factor binding sites by QIAGEN in the MOCS1 gene promoter:
  • AML1a
  • NF-kappaB1
  • Olf-1
  • PPAR-gamma1
  • PPAR-gamma2

Genomic Locations for MOCS1 Gene

Latest Assembly
chr6:39,899,578-39,934,551
(GRCh38/hg38)
Size:
34,974 bases
Orientation:
Minus strand

Previous Assembly
chr6:39,871,946-39,902,201
(GRCh37/hg19 by Entrez Gene)
Size:
30,256 bases
Orientation:
Minus strand

chr6:39,867,354-39,902,290
(GRCh37/hg19 by Ensembl)
Size:
34,937 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 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;
    Quaternary structure:
    • Isoform MOCS1A and isoform MOCS1B probably form a heterooligomer.
    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};
    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.
    • [Isoform MOCS1B]: Multidomain protein with inactive MOCS1A and active MOCS1B.
    • [Isoform 4]: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.
    • [Isoform 6]: Multidomain protein with inactive MOCS1A and active MOCS1B.

    Alternative splice isoforms for MOCS1 Gene

neXtProt entry for MOCS1 Gene

Post-translational modifications for MOCS1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for MOCS1 Gene

Domains & Families for MOCS1 Gene

Gene Families for MOCS1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted intracellular proteins

Protein Domains for MOCS1 Gene

InterPro:
Blocks:
  • Elongator protein 3/MiaB/NifB
  • MoaA/nifB/pqqE family
  • Molybdopterin cofactor biosynthesis protein MoaC

Suggested Antigen Peptide Sequences for MOCS1 Gene

GenScript: Design optimal peptide antigens:
  • Molybdenum cofactor synthesis-step 1 protein A-B (MOCS1_HUMAN)
  • Molybdenum cofactor synthesis 1 (Q5TCE4_HUMAN)
  • Molybdenum cofactor synthesis 1 (Q5TCE5_HUMAN)
  • Molybdenum cofactor synthesis-step 1 protein B splice type I (Q9NP26_HUMAN)
  • Molybdenum cofactor synthesis-step 1 protein A splice type I (Q9NP27_HUMAN)

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 radical SAM superfamily. MoaA family.
genes like me logo Genes that share domains with MOCS1: view

Function for MOCS1 Gene

Molecular function for MOCS1 Gene

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). MOCS1A catalyzes the cyclization of GTP to (8S)-3',8-cyclo-7,8-dihydroguanosine 5'-triphosphate and MOCS1B catalyzes the subsequent conversion of (8S)-3',8-cyclo-7,8-dihydroguanosine 5'-triphosphate to cPMP.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=AH2 + GTP + S-adenosyl-L-methionine = (8S)-3',8-cyclo-7,8-dihydroguanosine 5'-triphosphate + 5'-deoxyadenosine + A + H(+) + L-methionine; Xref=Rhea:RHEA:49576, ChEBI:CHEBI:13193, ChEBI:CHEBI:15378, ChEBI:CHEBI:17319, ChEBI:CHEBI:17499, ChEBI:CHEBI:37565, ChEBI:CHEBI:57844, ChEBI:CHEBI:59789, ChEBI:CHEBI:131766; EC=4.1.99.22; Evidence={ECO:0000250|UniProtKB:P69848};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=(8S)-3',8-cyclo-7,8-dihydroguanosine 5'-triphosphate = cyclic pyranopterin phosphate + diphosphate; Xref=Rhea:RHEA:49580, ChEBI:CHEBI:33019, ChEBI:CHEBI:59648, ChEBI:CHEBI:131766; EC=4.6.1.17; Evidence={ECO:0000269|PubMed:23627491};.
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=0.79 uM for (8S)-3',8-cyclo-7,8-dihydroguanosine 5'-triphosphate {ECO:0000269|PubMed:23627491}; Note=kcat is 0.092 min(-1) for (8S)-3',8-cyclo-7,8-dihydroguanosine 5'-triphosphate. {ECO:0000269|PubMed:23627491};
GENATLAS Biochemistry:
molybdenum cofactor synthesis,step 1,leading to precursor Z

Phenotypes From GWAS Catalog for MOCS1 Gene

Gene Ontology (GO) - Molecular Function for MOCS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0003824 catalytic activity IEA --
GO:0005525 GTP binding IEA --
GO:0016829 lyase activity IEA --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with MOCS1: view
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

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MOCS1

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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MOCS1 gene
Compartment Confidence
nucleus 5
cytosol 5
plasma membrane 1
mitochondrion 1
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)

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 & 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

Gene Ontology (GO) - Biological Process for MOCS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006777 Mo-molybdopterin cofactor biosynthetic process TAS 12754701
GO:0032324 molybdopterin cofactor biosynthetic process IEA,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

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Fosdenopterin Approved Pharma 0
Water Approved 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
pyrophosphate
  • [(HO)2P(O)OP(O)(OH)2]
  • Acide diphosphorique
  • Diphosphorsaeure
  • H4P2O7
  • Pyrophosphoric acid
14000-31-8
s-adenosylmethionine
  • (3S)-5'-[(3-Amino-3-carboxypropyl)methylsulfonio]-5'-deoxyadenosine, inner salt
  • [1-(Adenin-9-yl)-1,5-dideoxy-beta-D-ribofuranos-5-yl][(3S)-3-amino-3-carboxypropyl](methyl)sulfonium
  • Acylcarnitine
  • AdoMet
  • S-(5'-Deoxyadenosin-5'-yl)-L-methionine
485-80-3
genes like me logo Genes that share compounds with MOCS1: view

Transcripts for MOCS1 Gene

mRNA/cDNA for MOCS1 Gene

9 REFSEQ mRNAs :
17 NCBI additional mRNA sequence :
9 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MOCS1

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

Expression for MOCS1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE 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, MaxQB, and MOPED for MOCS1 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for MOCS1

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.

Evidence on tissue expression from TISSUES for MOCS1 Gene

  • Kidney(4.4)
  • Intestine(4.1)
  • Nervous system(3.9)
  • Liver(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for MOCS1 Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • cardiovascular
  • integumentary
  • nervous
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • cerebellum
  • cheek
  • chin
  • cranial nerve
  • eye
  • face
  • forehead
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • mouth
  • nose
  • skull
Abdomen:
  • kidney
Limb:
  • lower limb
  • upper limb
General:
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal cord
genes like me logo Genes that share expression patterns with MOCS1: view

Primer products for research

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 29 30
  • 90.74 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia MOCS1 30
  • 52 (a)
OneToOne
Chimpanzee
(Pan troglodytes)
Mammalia MOCS1 30
  • 51 (a)
OneToOne
Mouse
(Mus musculus)
Mammalia Mocs1 30
  • 51 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia MOCS1 30
  • 49 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia MOCS1 30
  • 44 (a)
OneToOne
Chicken
(Gallus gallus)
Aves MOCS1 30
  • 46 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia MOCS1 30
  • 74 (a)
OneToOne
Zebrafish
(Danio rerio)
Actinopterygii mocs1 29 30
  • 70.2 (n)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta Mocs1 30
  • 35 (a)
OneToOne
Worm
(Caenorhabditis elegans)
Secernentea F49E2.1a 31
  • 55 (a)
F49E2.1b 31
  • 55 (a)
F49H6.5 30 31
  • 47 (a)
OneToMany
F49E2.1 30
  • 29 (a)
OneToMany
Wheat
(Triticum aestivum)
Liliopsida Ta.8717 29
Corn
(Zea mays)
Liliopsida Zm.4345 29
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 30
  • 62 (a)
OneToMany
-- 30
  • 19 (a)
OneToMany
Species where no ortholog for MOCS1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for MOCS1: view image
Alliance of Genome Resources:
Additional Orthologs for MOCS1

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, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for MOCS1 Gene

SNP ID Clinical significance and condition Chr 06 pos Variation AA Info Type
1005675 Uncertain Significance: Molybdenum cofactor deficiency, complementation group A 39,916,166(-) C/A
NM_001358530.2(MOCS1):c.485G>T (p.Arg162Leu)
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT
1007267 Uncertain Significance: Molybdenum cofactor deficiency, complementation group A 39,934,414(-) C/T
NM_001358530.2(MOCS1):c.4G>A (p.Ala2Thr)
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,FIVE_PRIME_UTR
1007917 Uncertain Significance: Molybdenum cofactor deficiency, complementation group A 39,913,805(-) T/C
NM_001358530.2(MOCS1):c.614A>G (p.Lys205Arg)
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT
1010245 Uncertain Significance: Molybdenum cofactor deficiency, complementation group A 39,913,007(-) G/A
NM_001358530.2(MOCS1):c.758-3C>T
INTRON
1010994 Uncertain Significance: Molybdenum cofactor deficiency, complementation group A 39,925,762(-) G/A
NM_001358530.2(MOCS1):c.334C>T (p.Arg112Trp)
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for MOCS1 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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

Variant ID Type Subtype PubMed ID
esv2649617 CNV insertion 19546169
esv3400812 CNV duplication 20981092
esv3576143 CNV gain 25503493
nsv1125874 CNV tandem duplication 24896259
nsv1129267 CNV insertion 24896259
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)

Additional Variant Information for MOCS1 Gene

Human Gene Mutation Database (HGMD)
MOCS1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MOCS1
Leiden Open Variation Database (LOVD)
MOCS1

SNP Genotyping and Copy Number Assays for research

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

Disorders for MOCS1 Gene

MalaCards: The human disease database

(16) MalaCards diseases for MOCS1 Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

Disorder Aliases PubMed IDs
molybdenum cofactor deficiency, complementation group a
  • mocoda
sulfite oxidase deficiency, isolated
  • isod
molybdenum cofactor deficiency
  • combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase
encephalomalacia
xanthinuria
  • xanthine dehydrogenase deficiency
- 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 variants 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

Additional Disease Information for MOCS1

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Publications for MOCS1 Gene

  1. Mutations in a polycistronic nuclear gene associated with molybdenum cofactor deficiency. (PMID: 9731530) Reiss J … Dierks T (Nature genetics 1998) 2 3 4 22 72
  2. 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) Leimkühler S … Reiss J (Human genetics 2005) 3 4 22
  3. Characterization of MOCS1A, an oxygen-sensitive iron-sulfur protein involved in human molybdenum cofactor biosynthesis. (PMID: 15180982) Hänzelmann P … Schindelin H (The Journal of biological chemistry 2004) 3 4 22
  4. Mutations in the molybdenum cofactor biosynthetic genes MOCS1, MOCS2, and GEPH. (PMID: 12754701) Reiss J … Johnson JL (Human mutation 2003) 3 4 22
  5. The bicistronic MOCS1 gene has alternative start codons on two mutually exclusive exons. (PMID: 12208140) Gross-Hardt S … Reiss J (Molecular genetics and metabolism 2002) 3 4 22

Products for MOCS1 Gene

Sources for MOCS1 Gene