Price range: $268.00 through $328.00
Background:
This gene encodes a bifunctional protein that catalyzes the last two steps of the de novo purine biosynthetic pathway. The N-terminal domain has phosphoribosylaminoimidazolecarboxamide formyltransferase activity, and the C-terminal domain has IMP cyclohydrolase activity. A mutation in this gene results in AICA-ribosiduria. [provided by RefSeq, Sep 2009],
| Size | 50μL/100μL |
| Target | ATIC |
| Reactivity | Human, Mouse, Rat |
| Applications | WB |
| MW(Calculated) | |
| MW(Observed) | 64kD |
| Host Species | Mouse |
| Isotype | |
| Conjugate/Modification | Unmodified |
| Recommended Dilution Ratio | WB 1:1000 |
| Formulation | Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% sodium azide. |
| Purification | The antibody was affinity-purified from mouse ascites by affinity-chromatography using epitope-specific immunogen. |
| Storage | -15°C to -25°C/1 year(Do not lower than -25°C) |
| Concentration | |
| Clonality | Monoclonal |
| Clone Number | 4D5 |
| Immunogen | Purified recombinant human ATIC protein fragments expressed in E.coli. |
| Specificity | This antibody detects endogenous levels of ATIC and does not cross-react with related proteins. |
| Gene Name | atic |
| Protein Name | |
| Other Name | 5 aminoimidazole 4 carboxamide 1 beta D ribonucleotide transformylase/inosinicase; / 5 aminoimidazole 4 carboxamide ribonucleotide formyltransferase; / 5 aminoimidazole 4 carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase; / 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase; / AICAR; / AICAR formyltransferase/IMP cyclohydrolase bifunctional enzyme; / AICAR transformylase; / AICARFT; / AICARFT/IMPCHASE; / ATIC; / Bifunctional purine biosynthesis protein PURH; / FLJ93545; / IMP cyclohydrolase; / IMP synthase; / IMP synthetase; / IMPCHASE; / Inosinicase; / OK/SW-cl.86; / Phosphoribosylaminoimidazolecarboxamide formyltransferase; / Phosphoribosylaminoimidazolecarboxamide formyltransferase/IMP cyclohydrolase; / PUR9_HUMAN; / PURH. |
| Species | Human |
| Gene ID | 471 |
| Uniprot | P31939, |
| Species.1 | Mouse |
| Gene ID.1 | |
| Uniprot.1 | Q9CWJ9 |
| Species.2 | |
| Gene ID.2 | |
| Uniprot.2 | |
| Cellular Localization | mitochondrion,cytosol,cell-cell adherens junction,membrane,extracellular exosome, |
| Tissue Expression | Present in the heart, brain, placenta, lung, liver, skeletal muscle, kidney, pancreas. |
| Signaling_pathway | |
| Research Areas | >>Purine metabolism; / >>One carbon pool by folate; / >>Metabolic pathways; / >>Antifolate resistance |
| Function | Catalytic activity:10-formyltetrahydrofolate + 5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamide = tetrahydrofolate + 5-formamido-1-(5-phospho-D-ribosyl)imidazole-4-carboxamide.,Catalytic activity:IMP + H(2)O = 5-formamido-1-(5-phospho-D-ribosyl)imidazole-4-carboxamide.,Disease:Defects in ATIC are the cause of AICA-ribosuria [MIM:608688]; also known as AICA-ribosiduria. AICA-ribosuria is a neurologically devastating inborn error of purine biosynthesis. AICA-ribosuria patients excrete massive amounts of AICA-riboside in the urine and accumulate AICA-ribotide and its derivatives in erythrocytes and fibroblasts. AICA-ribosuria causes profound mental retardation, epilepsy, dysmorphic features and congenital blindness.,Domain:The IMP cyclohydrolase activity resides in the N-terminal region.,pathway:Purine metabolism; IMP biosynthesis via de novo pathway; 5-formamido-1-(5-phospho-D-ribosyl)imidazole-4-carboxamide from 5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamide (10-formyl THF route): step 1/1.,pathway:Purine metabolism; IMP biosynthesis via de novo pathway; IMP from 5-formamido-1-(5-phospho-D-ribosyl)imidazole-4-carboxamide: step 1/1.,similarity:Belongs to the purH family., |
