Entity Details

Primary name PUR9_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionP31939
EntryNamePUR9_HUMAN
FullNameBifunctional purine biosynthesis protein ATIC
TaxID9606
Evidenceevidence at protein level
Length592
SequenceStatuscomplete
DateCreated1993-07-01
DateModified2021-06-02

Ontological Relatives

GenesATIC

GO terms

Show/Hide Table
GOName
GO:0003360 brainstem development
GO:0003937 IMP cyclohydrolase activity
GO:0004643 phosphoribosylaminoimidazolecarboxamide formyltransferase activity
GO:0005829 cytosol
GO:0005886 plasma membrane
GO:0006139 nucleobase-containing compound metabolic process
GO:0006189 'de novo' IMP biosynthetic process
GO:0009116 nucleoside metabolic process
GO:0009168 purine ribonucleoside monophosphate biosynthetic process
GO:0010035 response to inorganic substance
GO:0016020 membrane
GO:0021549 cerebellum development
GO:0021987 cerebral cortex development
GO:0031100 animal organ regeneration
GO:0042803 protein homodimerization activity
GO:0045296 cadherin binding
GO:0046452 dihydrofolate metabolic process
GO:0046654 tetrahydrofolate biosynthetic process
GO:0070062 extracellular exosome
GO:0098761 cellular response to interleukin-7

Subcellular Location

Show/Hide Table

Domains

Show/Hide Table
DomainNameCategoryType
IPR002695 Bifunctional purine biosynthesis protein PurH-likeFamilyFamily
IPR011607 Methylglyoxal synthase-like domainDomainDomain
IPR016193 Cytidine deaminase-likeFamilyHomologous superfamily
IPR024050 AICAR transformylase, insert domain superfamilyFamilyHomologous superfamily
IPR024051 AICAR transformylase, duplicated domain superfamilyFamilyHomologous superfamily
IPR036914 Methylglyoxal synthase-like domain superfamilyFamilyHomologous superfamily

Diseases

Show/Hide Table
Disease IDSourceNameDescription
608688 OMIMAICAR transformylase/IMP cyclohydrolase deficiency (AICAR)A neurologically devastating inborn error of purine biosynthesis. Patients excrete massive amounts of AICA-riboside in the urine and accumulate AICA-ribotide and its derivatives in erythrocytes and fibroblasts. AICAR causes profound mental retardation, epilepsy, dysmorphic features and congenital blindness. The disease is caused by variants affecting the gene represented in this entry.

Drugs

Show/Hide Table
DrugNameSourceType
DB00116 Tetrahydrofolic acidDrugbanksmall molecule
DB00563 MethotrexateDrugbanksmall molecule
DB00642 PemetrexedDrugbanksmall molecule
DB01700 AICA ribonucleotideDrugbanksmall molecule
DB01972 Guanosine-5'-MonophosphateDrugbanksmall molecule
DB02309 5-monophosphate-9-beta-D-ribofuranosyl xanthineDrugbanksmall molecule
DB03442 Acid yellow 54 free acidDrugbanksmall molecule
DB04057 N-[4-([(2-Amino-4-oxo-1,4-dihydropyrido[3,2-d]pyrimidin-6-yl)methyl]{(2E)-3-[4-carbamoyl-1-(5-O-phosphono-beta-D-ribofuranosyl)-1H-imidazol-5-yl]-2-propenoyl}amino)benzoyl]-L-glutamic acidDrugbanksmall molecule