Aliases for MOCS1 Gene
Aliases for MOCS1 Gene
External Ids for MOCS1 Gene
- HGNC: 7190
- Entrez Gene: 4337
- Ensembl: ENSG00000124615
- OMIM: 603707
- UniProtKB: Q9NZB8
Previous GeneCards Identifiers for MOCS1 Gene
- GC06M039875
- GC06M039919
- GC06M039920
- GC06M039975
- GC06M039589
Summaries 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). 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.
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MOCS1 Gene
Genomics for MOCS1 Gene
Regulatory Elements for MOCS1 Gene
Enhancers for MOCS1 Gene
| GeneHancer Identifier | Enhancer Score | Enhancer Sources | Gene-Enhancer Score | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites within enhancer | Gene Targets for Enhancer |
|---|---|---|---|---|---|---|---|---|
| GH06G039879 | 1.8 | FANTOM5 Ensembl ENCODE dbSUPER | 16.5 | +49.7 | 49735 | 9.8 | ELF3 FOXA2 ZSCAN4 ZNF48 ZSCAN9 RARA FOS MIXL1 THAP11 KLF11 | DAAM2 MOCS1 LOC100505635 ENSG00000281969 |
| GH06G039843 | 1.2 | FANTOM5 Ensembl ENCODE dbSUPER | 10.3 | +90.8 | 90843 | 1.2 | CTCF HNF4A ZNF2 | MOCS1 KCNK17 DAAM2 ENSG00000281969 LOC100505635 |
| GH06G039876 | 0.7 | dbSUPER | 15.9 | +57.3 | 57298 | 2.1 | YBX3 CTCF ZNF211 ARNT TSC22D4 TRIM22 MNT YBX1 ZNF2 NR2F2 | MOCS1 LOC100505635 DAAM2 ENSG00000281969 |
| GH06G039862 | 0.7 | dbSUPER | 15.6 | +70.2 | 70206 | 3.1 | ELF3 CTCF ZNF654 RB1 TRIM22 REST RAD21 ATF2 KLF16 IKZF1 | MOCS1 LOC100505635 ENSG00000281969 |
| GH06G039923 | 1 | ENCODE dbSUPER | 10.7 | +10.8 | 10777 | 0.8 | NFIB MAX RAD21 YY1 CTBP1 HNF4G ZNF687 DPF2 REST GABPA | MOCS1 GC06P041062 |
- Elite enhancer and/or Elite enhancer-gene association
Download GeneHancer data dump
Enhancers around MOCS1 on UCSC Golden Path with GeneCards custom track
- Transcription factor binding sites by QIAGEN in the MOCS1 gene promoter:
Regulatory Element Products
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:
-
- 6p21.2 by Ensembl
- 6p21.2 by Entrez Gene
- 6p21.2 by HGNC
MOCS1 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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};
Protein Expression for MOCS1 Gene
Post-translational modifications for MOCS1 Gene
Other Protein References for MOCS1 Gene
Antibody Products
-
Custom Antibody ServicesOriGene Antibodies for MOCS1
- Novus Biologicals Antibodies for MOCS1
-
Cloud-Clone Corp. Antibodies for MOCS1
- Invitrogen Antibodies for MOCS1
- antibodies-online Antibodies for MOCS1: See all 40
- Search GeneTex for Antibodies for MOCS1
-
Santa Cruz Biotechnology (SCBT) Antibodies for MOCS1
Protein Products
-
OriGene Purified Proteins for MOCS1
- Search Origene for MassSpec and Protein Over-expression Lysates for MOCS1
- Origene Custom Protein Services for MOCS1
- Novus Biologicals proteins for MOCS1
-
Cloud-Clone Corp. Proteins for MOCS1
- antibodies-online Proteins for MOCS1: See all 37
- Search antibodies-online for peptides
- Search GeneTex for Proteins for MOCS1
No data available for DME Specific Peptides for MOCS1 Gene
Domains & Families for MOCS1 Gene
Protein Domains for MOCS1 Gene
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- Family:
-
- In the C-terminal section; belongs to the MoaC family.
- In the N-terminal section; belongs to the radical SAM superfamily. MoaA family.
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 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};
- UniProtKB/Swiss-Prot CatalyticActivity:
- GTP + S-adenosyl-L-methionine + reduced electron acceptor = (8S)-3,8-cyclo-7,8-dihydroguanosine 5-triphosphate + 5-deoxyadenosine + L-methionine + oxidized electron acceptor.
- UniProtKB/Swiss-Prot CatalyticActivity:
- (8S)-3,8-cyclo-7,8-dihydroguanosine 5-triphosphate = 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). 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.
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0003824 | catalytic activity | IEA | -- |
| GO:0005525 | GTP binding | IEA | -- |
| GO:0016829 | lyase activity | IEA | -- |
| GO:0046872 | metal ion binding | IEA | -- |
| GO:0051536 | iron-sulfur cluster binding | IEA | -- |
Phenotypes for MOCS1 Gene
- GenomeRNAi human phenotypes for MOCS1:
-
- Increased viability
- Increased vaccinia virus (VACV) infection
- Decreased viability
- shRNA abundance <= 50%
- Mildly decreased CFP-tsO45G cell surface transport
- Decreased viability in esophageal squamous lineage
- Dynamic nuclei (hole, folded or small irregular)
- Decreased NF-kappaB reporter expression
- Decreased POU5F1-GFP protein expression
- Decreased homologous recombination repair frequency
- Decreased OCT4 protein expression
- Decreased NANOG protein expression
- Reduced shRNA abundance in FBW7 KO line
- Decreased viability with paclitaxel
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for MOCS1
-
-
ViGene Biosciences lentiviral particle packaged cDNA for MOCS1 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for MOCS1 gene
- Search ViGene Biosciences for MOCS1
CRISPR Products
-
OriGene CRISPR knockouts for MOCS1
-
Santa Cruz Biotechnology (SCBT) CRISPR for MOCS1
- GenScript: Design CRISPR guide RNA sequences for MOCS1
miRNA for MOCS1 Gene
- miRTarBase miRNAs that target MOCS1
miRNA Products
- Search ViGene Biosciences for MOCS1
Inhibitory RNA Products
- Origene RNAi, siRNA, and shRNA products in human, mouse, rat for MOCS1
- Browse OriGene Inhibitory RNA Products For MOCS1
-
ViGene Biosciences ready-to-package AAV shRNAs for MOCS1 gene
Clone Products
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- VectorBuilder custom plasmid, inducible vectors for MOCS1
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for MOCS1
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Cell Line Products
-
Horizon Cell Lines for MOCS1
-
ViGene Biosciences adenoviral particle packaged cDNA for MOCS1 gene
-
ViGene Biosciences lentiviral particle packaged cDNA for MOCS1 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for MOCS1 gene
No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for MOCS1 Gene
Localization for MOCS1 Gene
| Compartment | Confidence |
|---|---|
| nucleus | 5 |
| cytosol | 5 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005634 | nucleus | NAS | 9731530 |
| GO:0005829 | cytosol | TAS | -- |
| GO:0019008 | molybdopterin synthase complex | IEA | -- |
No data available for Subcellular locations from UniProtKB/Swiss-Prot for MOCS1 Gene
Pathways & Interactions for MOCS1 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Metabolism of water-soluble vitamins and cofactors | ||
| 2 | Metabolism |
.37
|
|
| 3 | Folate biosynthesis | ||
Pathways by source for MOCS1 Gene
4 Reactome pathways for MOCS1 Gene
2 KEGG pathways for MOCS1 Gene
UniProtKB/Swiss-Prot Q9NZB8-MOCS1_HUMAN
- Pathway: Cofactor biosynthesis; molybdopterin biosynthesis.
Interacting Proteins 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 | TAS | -- |
No data available for SIGNOR curated interactions for MOCS1 Gene
Drugs & Compounds for MOCS1 Gene
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
|---|---|---|---|---|---|---|
| Cyclic pyranopterin monophosphate |
|
|
||||
| pyrophosphate |
|
14000-31-8 |
|
Transcripts for MOCS1 Gene
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
CRISPR Products
-
OriGene CRISPR knockouts for MOCS1
-
Santa Cruz Biotechnology (SCBT) CRISPR for MOCS1
- GenScript: Design CRISPR guide RNA sequences for MOCS1
miRNA Products
- Search ViGene Biosciences for MOCS1
Inhibitory RNA Products
- Origene RNAi, siRNA, and shRNA products in human, mouse, rat for MOCS1
- Browse OriGene Inhibitory RNA Products For MOCS1
-
ViGene Biosciences ready-to-package AAV shRNAs for MOCS1 gene
Clone Products
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- VectorBuilder custom plasmid, inducible vectors for MOCS1
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for MOCS1
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
| 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: | - | - |
Expression for MOCS1 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
- Eye (Sensory Organs)
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, MaxQB, and MOPED for MOCS1 Gene
NURSA nuclear receptor signaling pathways regulating expression of MOCS1 Gene:
MOCS1SOURCE GeneReport for Unigene cluster for MOCS1 Gene:
Hs.718492mRNA 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(4.3)
- Intestine(4.1)
- Nervous system(3.8)
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
Organs:
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
Primer Products
-
OriGene qPCR primer pairs for MOCS1
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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| dog (Canis familiaris) |
Mammalia | MOCS1 34 35 |
|
||
| cow (Bos Taurus) |
Mammalia | MOCS1 35 |
|
OneToOne | |
| mouse (Mus musculus) |
Mammalia | Mocs1 35 |
|
OneToOne | |
| chimpanzee (Pan troglodytes) |
Mammalia | MOCS1 35 |
|
OneToOne | |
| oppossum (Monodelphis domestica) |
Mammalia | MOCS1 35 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | MOCS1 35 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | MOCS1 35 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | MOCS1 35 |
|
OneToOne | |
| zebrafish (Danio rerio) |
Actinopterygii | mocs1 34 35 |
|
||
| fruit fly (Drosophila melanogaster) |
Insecta | Mocs1 35 |
|
OneToOne | |
| worm (Caenorhabditis elegans) |
Secernentea | F49E2.1a 36 |
|
|
|
| F49E2.1b 36 |
|
|
|||
| F49H6.5 36 35 |
|
||||
| F49E2.1 35 |
|
OneToMany | |||
| wheat (Triticum aestivum) |
Liliopsida | Ta.8717 34 |
|
||
| corn (Zea mays) |
Liliopsida | Zm.4345 34 |
|
||
| sea squirt (Ciona savignyi) |
Ascidiacea | -- 35 |
|
OneToMany | |
| -- 35 |
|
OneToMany |
- Species where no ortholog for MOCS1 was found in the sources mined by GeneCards:
-
- 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)
Paralogs for MOCS1 Gene
Pseudogenes.org Pseudogenes for MOCS1 Gene
No data available for Paralogs for MOCS1 Gene
Variants for MOCS1 Gene
| SNP ID | Clin | Chr 06 pos | Sequence Context | AA Info | Type |
|---|---|---|---|---|---|
| rs104893969 | Pathogenic, Molybdenum cofactor deficiency, complementation group A (MOCODA) [MIM:252150] | 39,912,289(-) | CCTGC(A/G)AATCA | nc-transcript-variant, reference, missense | |
| rs104893970 | Pathogenic, Molybdenum cofactor deficiency, complementation group A (MOCODA) [MIM:252150] | 39,927,362(-) | ACCTG(C/T)GGATC | intron-variant, reference, missense | |
| rs151141411 | Molybdenum cofactor deficiency, complementation group A (MOCODA) [MIM:252150] | 39,927,341(+) | GTTGC(A/C)CTTCT | intron-variant, reference, missense | |
| rs372246702 | Molybdenum cofactor deficiency, complementation group A (MOCODA) [MIM:252150] | 39,925,719(+) | CTCCA(C/T)CTGTG | nc-transcript-variant, reference, missense | |
| rs754441164 | Molybdenum cofactor deficiency, complementation group A (MOCODA) [MIM:252150] | 39,927,380(+) | CTGCC(A/G)GCCGA | intron-variant, reference, missense |
| 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 |
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
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MOCS1 Gene
Disorders for MOCS1 Gene
(5) 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 |
|
|
| encephalomalacia |
|
|
| sulfite oxidase deficiency |
|
|
| hyperekplexia |
|
|
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
Publications for MOCS1 Gene
- Mutations in a polycistronic nuclear gene associated with molybdenum cofactor deficiency. (PMID: 9731530) Reiss J.P. … Dierks T. (Nat. Genet. 1998) 2 3 4 22 64
- 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 4 22 64
- Characterization of MOCS1A, an oxygen-sensitive iron-sulfur protein involved in human molybdenum cofactor biosynthesis. (PMID: 15180982) Haenzelmann P. … Schindelin H. (J. Biol. Chem. 2004) 3 4 22 64
- Mutations in the molybdenum cofactor biosynthetic genes MOCS1, MOCS2, and GEPH. (PMID: 12754701) Reiss J. … Johnson J.L. (Hum. Mutat. 2003) 3 4 22 64
- 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 22 64
Products for MOCS1 Gene
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