ENSG00000075643


Homo sapiens

Features
Gene ID: ENSG00000075643
  
Biological name :MOCOS
  
Synonyms : MOCOS / molybdenum cofactor sulfurase / Q96EN8
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 18
Strand: 1
Band: q12.2
Gene start: 36187519
Gene end: 36272157
  
Corresponding Affymetrix probe sets: 219959_at (Human Genome U133 Plus 2.0 Array)   238576_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000261326
NCBI entrez gene - 55034     See in Manteia.
OMIM - 613274
RefSeq - NM_017947
RefSeq Peptide - NP_060417
swissprot - Q96EN8
Ensembl - ENSG00000075643
  
Related genetic diseases (OMIM): 603592 - Xanthinuria, type II, 603592
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 MOCOSENSGALG00000013149Gallus gallus
 MocosENSMUSG00000039616Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
MARC2 / Q969Z3 / mitochondrial amidoxime reducing component 2ENSG000001177918
MARC1 / Q5VT66 / mitochondrial amidoxime reducing component 1ENSG000001862058


Protein motifs (from Interpro)
Interpro ID Name
 IPR000192  Aminotransferase class V domain
 IPR005302  Molybdenum cofactor sulfurase, C-terminal
 IPR005303  MOSC, N-terminal beta barrel
 IPR011037  Pyruvate kinase-like, insert domain superfamily
 IPR015421  Pyridoxal phosphate-dependent transferase, major domain
 IPR015422  Pyridoxal phosphate-dependent transferase domain 1
 IPR015424  Pyridoxal phosphate-dependent transferase
 IPR028886  Molybdenum cofactor sulfurase


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006777 Mo-molybdopterin cofactor biosynthetic process IEA
 biological_processGO:0032324 molybdopterin cofactor biosynthetic process TAS
 biological_processGO:0043545 molybdopterin cofactor metabolic process IMP
 cellular_componentGO:0005575 cellular_component ND
 cellular_componentGO:0005829 cytosol TAS
 molecular_functionGO:0003824 catalytic activity IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0008265 Mo-molybdopterin cofactor sulfurase activity TAS
 molecular_functionGO:0016740 transferase activity IEA
 molecular_functionGO:0030151 molybdenum ion binding IEA
 molecular_functionGO:0030170 pyridoxal phosphate binding IEA
 molecular_functionGO:0102867 molybdenum cofactor sulfurtransferase activity IEA


Pathways (from Reactome)
Pathway description
Molybdenum cofactor biosynthesis


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000007 Autosomal recessive inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators]
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 HP:0000083 Renal failure 
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 HP:0000787 Kidney stones 
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 HP:0003537 Hypouricemia "An abnormally low level of uric acid in the blood." [HPO:curators]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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