InnateDB Protein
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IDBP-86285.7
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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MOCS1
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Protein Name
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molybdenum cofactor synthesis 1
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Synonyms
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MIG11; MOCOD; MOCODA;
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000362277
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InnateDB Gene
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IDBG-86275 (MOCS1)
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Protein Structure
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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). {ECO:0000269PubMed:11891227}.
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Subcellular Localization |
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Disease Associations |
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:0000269PubMed:12754701, ECO:0000269PubMed:16021469, ECO:0000269PubMed:9731530, ECO:0000269PubMed:9921896}. Note=The disease is caused by mutations affecting the gene represented in this entry.
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Tissue Specificity |
Isoform MOCS1A and isoform 2 are widely expressed. {ECO:0000269PubMed:12208140, ECO:0000269PubMed:9731530}.
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 1 experimentally validated interaction(s) in this database.
Experimentally validated |
Total |
1
[view]
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Protein-Protein |
1
[view]
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Protein-DNA |
0
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Molecular Function |
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
IPR007197
Radical SAM
IPR010505
Molybdenum cofactor synthesis C-terminal
IPR013483
Molybdenum cofactor biosynthesis protein A
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PFAM |
PF04055
PF06463
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PRINTS |
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PIRSF |
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SMART |
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TIGRFAMs |
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Modification |
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SwissProt |
Q9NZB8
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PhosphoSite |
PhosphoSite-Q9NZB8
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TrEMBL |
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UniProt Splice Variant |
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Entrez Gene |
4337
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UniGene |
Hs.718492
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RefSeq |
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HUGO |
HGNC:7190
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OMIM |
603707
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CCDS |
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HPRD |
04749
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IMGT |
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EMBL |
AF034374
AF214022
AF214023
AJ224328
AJ293577
AJ293578
AJ293579
AJ404969
AK056740
AK300300
AL136089
AY423726
BC036839
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GenPept |
AAB87523
AAB87524
AAF67857
AAF67858
AAH36839
AAS00489
BAG51799
BAG62053
CAA11897
CAA11898
CAC44526
CAC44527
CAI20007
CAI20011
CAI20012
CAI20013
CAI20014
CAI20015
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