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Product Name UMPS Chinese Name 尿苷磷酸合成酶抗体 Alias ODC; Uridine 5-monophosphate synthase; OMPdecase; OPRT; OPRTase; Orotate phosphoribosyl transferase and orotidine 5' decarboxylase; Orotate phosphoribosyltransferase; Orotate phosphoribosyltransferase phosphoribosyltransferase; Orotidine 5' phosphate decarboxylase; Orotidine 5''-phosphate decarboxylase; RP11-71H17.9; UMP synthase; Umps; UMPS_HUMAN; Uridine 5' monophosphate synthase; Uridine monophosphate synthetase. Research Area Cell biology Signal transduction Epigenetics Immunogen Species Rabbit Clonality Polyclonal React Species Human, (predicted: Mouse, Rat, Dog, Cow, Horse, Rabbit, Sheep, ) Applications WB=1:500-2000 ELISA=1:5000-10000 IHC-P=1:100-500 IHC-F=1:100-500 ICC=1:100-500 IF=1:100-500 (Paraffin sections need antigen repair)
not yet tested in other applications.
optimal dilutions/concentrations should be determined by the end user.Theoretical molecular weight 52kDa Cellular localization cytoplasmic Form Liquid Concentration 1mg/ml immunogen KLH conjugated synthetic peptide derived from human UMPS: 351-450/480 Lsotype IgG Purification affinity purified by Protein A Buffer Solution Preservative: 15mM Sodium Azide, Constituents: 1% BSA, 0.01M PBS, pH 7.4 Storage Shipped at 4℃. Store at -20 °C for one year. Avoid repeated freeze/thaw cycles. Attention This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications. PubMed PubMed Product Detail This gene encodes a uridine 5'-monophosphate synthase. The encoded protein is a bifunctional enzyme that catalyzes the final two steps of the de novo pyrimidine biosynthetic pathway. The first reaction is carried out by the N-terminal enzyme orotate phosphoribosyltransferase which converts orotic acid to orotidine-5'-monophosphate. The terminal reaction is carried out by the C-terminal enzyme OMP decarboxylase which converts orotidine-5'-monophosphate to uridine monophosphate. Defects in this gene are the cause of hereditary orotic aciduria. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Mar 2010]
Subunit:
Homodimer.
DISEASE:
Defects in UMPS are the cause of orotic aciduria type 1 (ORAC1) [MIM:258900]. A disorder of pyrimidine metabolism resulting in megaloblastic anemia and orotic acid crystalluria that is frequently associated with some degree of physical and mental retardation. A minority of cases have additional features, particularly congenital malformations and immune deficiencies.
Similarity:
In the N-terminal section; belongs to the purine/pyrimidine phosphoribosyltransferase family.
In the C-terminal section; belongs to the OMP decarboxylase family.
SWISS:
P11172
Gene ID:
7372
Database links:Entrez Gene: 460644 Chimpanzee
Entrez Gene: 101124432 Gorilla
Entrez Gene: 100070386 Horse
Entrez Gene: 7372 Human
Entrez Gene: 22247 Mouse
Entrez Gene: 100173867 Orangutan
Entrez Gene: 715664 Rhesus monkey
Omim: 613891 Human
SwissProt: P11172 Human
SwissProt: P13439 Mouse
SwissProt: Q5R514 Orangutan
Unigene: 2057 Human
Unigene: 13145 Mouse
Unigene: 466951 Mouse
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