Hmdb loader
Identification
HMDB Protein ID HMDBP00853
Secondary Accession Numbers
  • 6134
  • HMDBP03966
Name Phosphoribosylformylglycinamidine synthase
Synonyms
  1. FGAM synthase
  2. FGAMS
  3. FGARAT
  4. Formylglycinamide ribotide amidotransferase
  5. Formylglycinamide ribotide synthetase
Gene Name PFAS
Protein Type Enzyme
Biological Properties
General Function Involved in catalytic activity
Specific Function Not Available
Pathways
  • Adenine phosphoribosyltransferase deficiency (APRT)
  • Adenosine Deaminase Deficiency
  • Adenylosuccinate Lyase Deficiency
  • AICA-Ribosiduria
  • Azathioprine Action Pathway
  • Gout or Kelley-Seegmiller Syndrome
  • IMP biosynthesis via de novo pathway
  • Lesch-Nyhan Syndrome (LNS)
  • Mercaptopurine Action Pathway
  • Mitochondrial DNA depletion syndrome
  • Molybdenum Cofactor Deficiency
  • Myoadenylate deaminase deficiency
  • Purine metabolism
  • Purine metabolism
  • Purine Nucleoside Phosphorylase Deficiency
  • Thioguanine Action Pathway
  • Xanthine Dehydrogenase Deficiency (Xanthinuria)
  • Xanthinuria type I
  • Xanthinuria type II
Reactions
Adenosine triphosphate + N(2)-formyl-N(1)-(5-phospho-D-ribosyl)glycinamide + L-Glutamine + Water → ADP + Phosphate + 2-(formamido)-N(1)-(5-phospho-D-ribosyl)acetamidine + L-Glutamic acid details
Adenosine triphosphate + 5'-Phosphoribosyl-N-formylglycinamide + L-Glutamine + Water → ADP + Phosphate + Phosphoribosylformylglycinamidine + L-Glutamic acid details
GO Classification
Biological Process
purine nucleobase metabolic process
glutamine metabolic process
'de novo' IMP biosynthetic process
Cellular Component
cytosol
Function
catalytic activity
ligase activity
carbon-nitrogen ligase activity, with glutamine as amido-n-donor
ligase activity, forming carbon-nitrogen bonds
phosphoribosylformylglycinamidine synthase activity
Molecular Function
ATP binding
phosphoribosylformylglycinamidine synthase activity
Process
purine nucleotide metabolic process
purine nucleotide biosynthetic process
metabolic process
nitrogen compound metabolic process
cellular nitrogen compound metabolic process
nucleobase, nucleoside, nucleotide and nucleic acid metabolic process
nucleobase, nucleoside and nucleotide metabolic process
nucleoside phosphate metabolic process
nucleotide metabolic process
purine nucleoside monophosphate biosynthetic process
purine ribonucleoside monophosphate biosynthetic process
imp biosynthetic process
'de novo' imp biosynthetic process
Cellular Location
  1. Cytoplasm
Gene Properties
Chromosome Location 17
Locus 17p13.1
SNPs PFAS
Gene Sequence
>4017 bp
ATGTCCCCAGTCCTTCACTTCTATGTTCGTCCCTCTGGCCATGAGGGGGCAGCCTCTGGA
CACACTCGGAGGAAACTGCAAGGGAAACTGCCAGAGCTGCAGGGCGTCGAGACTGAACTG
TGCTACAACGTGAACTGGACAGCTGAGGCCCTCCCCAGTGCTGAGGAGACAAAGAAGCTG
ATGTGGCTGTTTGGTTGCCCCTTACTGCTGGATGATGTTGCTCGGGAGTCCTGGCTCCTT
CCTGGCTCCAATGACCTGCTGCTGGAGGTCGGGCCCAGGCTGAACTTCTCCACCCCAACA
TCCACCAACATCGTGTCAGTGTGCCGCGCCACTGGGCTGGGGCCTGTGGATCGTGTGGAG
ACCACCCGGCGCTACCGGCTCTCGTTTGCCCACCCCCCGTCAGCTGAGGTGGAAGCCATT
GCTCTGGCTACCCTGCACGACCGGATGACAGAGCAGCACTTCCCCCATCCCATCCAGAGT
TTCTCCCCTGAGAGCATGCCGGAACCCCTCAATGGCCCTATCAATATACTGGGTGAGGGC
CGGCTTGCGCTGGAGAAGGCCAACCAGGAGCTTGGTCTGGCTTTAGACTCTTGGGACCTA
GACTTCTACACCAAGCGCTTCCAGGAGCTACAGCGGAACCCGAGCACTGTGGAGGCCTTT
GACTTGGCGCAGTCCAATAGCGAGCACAGCCGACACTGGTTCTTCAAGGGCCAGCTCCAC
GTGGATGGGCAGAAGCTGGTGCACTCACTGTTTGAGTCCATCATGAGCACCCAGGAATCC
TCGAACCCCAACAACGTCCTCAAATTCTGTGATAACAGCAGTGCAATCCAGGGAAAGGAA
GTCCGATTCCTACGGCCTGAGGACCCCACACGGCCAAGCCGCTTCCAGCAACAGCAAGGG
CTGAGACATGTTGTCTTCACAGCAGAGACTCACAACTTTCCCACAGGAGTATGCCCCTTT
AGTGGTGCAACCACTGGCACAGGGGGCCGGATTCGAGATGTCCAGTGCACAGGCCGCGGG
GCCCACGTGGTGGCTGGCACTGCCGGCTATTGCTTTGGAAATCTGCATATTCCAGGTTAC
AATCTGCCCTGGGAGGATCTAAGCTTCCAGTATCCTGGGAATTTTGCCCGGCCCCTGGAG
GTTGCCATTGAAGCCAGTAATGGAGCTTCTGACTATGGCAACAAGTTTGGGGAACCAGTG
CTGGCTGGCTTCGCCCGCTCCTTGGGCCTCCAGCTCCCAGACGGCCAGCGGCGTGAGTGG
ATCAAGCCCATCATGTTTAGTGGGGGCATTGGGTCCATGGAAGCTGACCACATAAGCAAG
GAGGCCCCAGAGCCAGGCATGGAAGTTGTAAAGGTTGGAGGTCCCGTCTACAGGATTGGA
GTTGGAGGTGGAGCTGCTTCATCTGTGCAGGTGCAGGGAGATAACACCAGTGACCTGGAC
TTTGGGGCTGTGCAGCGAGGAGACCCGGAGATGGAACAGAAGATGAACCGTGTGATCAGG
GCTTGTGTGGAGGCCCCCAAGGGAAACCCCATCTGCAGCCTTCATGATCAGGGCGCTGGT
GGCAATGGCAATGTCCTAAAAGAGCTGAGTGACCCAGCTGGAGCCATCATTTACACCAGC
CGCTTCCAGCTTGGGGACCCAACCCTGAATGCCCTGGAAATCTGGGGGGCTGAGTACCAG
GAATCAAATGCTCTTCTGCTGAGGTCCCCCAACCGGGACTTCCTGACTCATGTCAGTGCC
CGTGAACGTTGCCCGGCTTGCTTCGTGGGCACCATCACTGGAGACCGGAGAATAGTGCTG
GTGGACGATCGGGAGTGTCCTGTCAGAAGAAATGGCCAGGGGGATGCCCCCCCGACACCC
CCGCCAACCCCTGTGGACCTGGAGCTCGAATGGGTGCTGGGCAAGATGCCTCGGAAGGAG
TTCTTCCTGCAGAGGAAGCCCCCCATGCTGCAGCCTCTGGCCTTGCCCCCAGGGCTGAGC
GTGCACCAGGCTCTGGAGAGGGTTCTGAGGCTGCCCGCCGTGGCCAGCAAGCGCTACCTC
ACCAATAAGGTGGACCGCTCCGTGGGAGGCCTGGTGGCCCAGCAGCAGTGCGTGGGGCCC
CTGCAAACTCCTCTGGCAGATGTAGCGGTTGTGGCACTGAGCCATGAGGAGCTCATAGGG
GCTGCCACAGCCTTGGGAGAACAGCCAGTCAAGAGCCTGCTGGACCCAAAAGTCGCCGCC
CGGCTGGCCGTGGCCGAAGCCCTCACCAACCTGGTGTTTGCTCTGGTCACTGACCTCCGG
GATGTGAAGTGTAGCGGGAACTGGATGTGGGCAGCCAAGCTCCCAGGGGAGGGCGCAGCT
TTGGCGGATGCCTGTGAGGCTATGGTGGCAGTGATGGCAGCCCTGGGTGTGGCAGTGGAT
GGTGGCAAGGACTCCCTCAGCATGGCTGCTCGGGTTGGCACTGAGACCGTGCGGGCTCCT
GGGTCACTGGTCATCTCAGCCTATGCCGTCTGCCCAGACATCACAGCCACTGTGACCCCA
GACCTCAAGCATCCTGAAGGGAGAGGCCATCTGCTCTATGTGGCTCTGAGCCCTGGGCAG
CACCGGCTCGGGGGCACAGCTCTGGCCCAGTGCTTCTCCCAGCTTGGGGAACACCCTCCA
GACCTGGACCTTCCTGAGAACTTGGTGCGGGCCTTCAGCATCACTCAGGGGCTGCTGAAA
GACCGCCTCCTCTGCTCAGGCCACGATGTCAGTGACGGAGGCCTCGTCACATGCCTGCTG
GAGATGGCCTTTGCTGGAAATTGCGGGCTACAGGTGGATGTGCCTGTCCCCAGGGTTGAT
GTCCTGTCTGTGCTGTTCGCTGAGGAGCCAGGCCTCGTGCTGGAGGTGCAGGAGCCAGAC
CTGGCCCAGGTGCTGAAGCGTTACCGGGATGCTGGCCTCCATTGCCTGGAGCTGGGCCAC
ACAGGCGAGGCCGGGCCCCACGCCATGGTCCGGGTGTCAGTGAACGGGGCTGTGGTTCTG
GAGGAGCCTGTTGGGGAGCTGCGAGCCCTCTGGGAGGAGACGAGTTTCCAGCTGGACCGG
CTACAGGCAGAGCCTCGCTGTGTGGCAGAGGAGGAACGGGGCCTGAGGGAGCGGATGGGG
CCCAGCTATTGCCTGCCCCCCACCTTTCCCAAAGCCTCCGTGCCCCGTGAGCCTGGTGGT
CCCAGCCCCCGAGTCGCCATCTTGCGAGAGGAGGGCAGTAATGGAGACCGGGAGATGGCC
GATGCCTTCCACTTAGCTGGGTTTGAGGTATGGGACGTGACCATGCAGGACCTCTGCTCT
GGGGCAATTGGGCTGGACACTTTCCGTGGCGTGGCCTTCGTGGGCGGCTTCAGCTATGCA
GATGTCCTGGGCTCTGCCAAAGGGTGGGCAGCTGCTGTGACCTTTCATCCCAGGGCTGGG
GCTGAGCTGAGGCGCTTCCGGAAGCGGCCAGACACCTTCAGCCTGGGCGTGTGTAATGGC
TGTCAACTGCTGGCTCTGCTCGGCTGGGTGGGAGGCGACCCCAATGAGGATGCTGCAGAG
ATGGGCCCTGACTCCCAGCCAGCCCGGCCAGGCCTTCTGCTACGCCACAACCTGTCTGGG
CGCTACGAGTCTCGCTGGGCCAGCGTGCGTGTGGGGCCTGGGCCAGCCCTGATGCTGCGA
GGGATGGAGGGCGCCGTGCTGCCCGTGTGGAGTGCGCACGGGGAAGGTTACGTAGCATTT
TCTTCTCCGGAACTCCAAGCTCAGATTGAGGCCAGGGGCTTGGCTCCACTGCACTGGGCT
GATGATGACGGGAACCCCACAGAGCAGTACCCTCTGAATCCCAATGGGTCCCCAGGGGGC
GTGGCTGGCATCTGCTCCTGTGATGGCCGCCACCTGGCTGTCATGCCTCACCCTGAGCGG
GCCGTTAGGCCTTGGCAGTGGGCATGGCGACCCCCTCCATTTGATACTCTGACCACCTCC
CCCTGGCTCCAGCTCTCTATCAATGCCCGAAACTGGACCCTGGAAGGGAGCTGCTGA
Protein Properties
Number of Residues 1338
Molecular Weight 144733.165
Theoretical pI 5.763
Pfam Domain Function
Signals Not Available
Transmembrane Regions Not Available
Protein Sequence
>Phosphoribosylformylglycinamidine synthase
MSPVLHFYVRPSGHEGAASGHTRRKLQGKLPELQGVETELCYNVNWTAEALPSAEETKKL
MWLFGCPLLLDDVARESWLLPGSNDLLLEVGPRLNFSTPTSTNIVSVCRATGLGPVDRVE
TTRRYRLSFAHPPSAEVEAIALATLHDRMTEQHFPHPIQSFSPESMPEPLNGPINILGEG
RLALEKANQELGLALDSWDLDFYTKRFQELQRNPSTVEAFDLAQSNSEHSRHWFFKGQLH
VDGQKLVHSLFESIMSTQESSNPNNVLKFCDNSSAIQGKEVRFLRPEDPTRPSRFQQQQG
LRHVVFTAETHNFPTGVCPFSGATTGTGGRIRDVQCTGRGAHVVAGTAGYCFGNLHIPGY
NLPWEDPSFQYPGNFARPLEVAIEASNGASDYGNKFGEPVLAGFARSLGLQLPDGQRREW
IKPIMFSGGIGSMEADHISKEAPEPGMEVVKVGGPVYRIGVGGGAASSVQVQGDNTSDLD
FGAVQRGDPEMEQKMNRVIRACVEAPKGNPICSLHDQGAGGNGNVLKELSDPAGAIIYTS
RFQLGDPTLNALEIWGAEYQESNALLLRSPNRDFLTHVSARERCPACFVGTITGDRRIVL
VDDRECPVRRNGQGDAPPTPLPTPVDLELEWVLGKMPRKEFFLQRKPPMLQPLALPPGLS
VHQALERVLRLPAVASKRYLTNKVDRSVGGLVAQQQCVGPLQTPLADVAVVALSHEELIG
AATALGEQPVKSLLDPKVAARLAVAEALTNLVFALVTDLRDVKCSGNWMWAAKLPGEGAA
LADACEAMVAVMAALGVAVDGGKDSLSMAARVGTETVRAPGSLVISAYAVCPDITATVTP
DLKHPEGRGHLLYVALSPGQHRLGGTALAQCFSQLGEHPPDLDLPENLVRAFSITQGLLK
DRLLCSGHDVSDGGLVTCLLEMAFAGNCGLQVDVPVPRVDVLSVLFAEEPGLVLEVQEPD
LAQVLKRYRDAGLHCLELGHTGEAGPHAMVRVSVNGAVVLEEPVGELRALWEETSFQLDR
LQAEPRCVAEEERGLRERMGPSYCLPPTFPKASVPREPGGPSPRVAILREEGSNGDREMA
DAFHLAGFEVWDVTMQDLCSGAIGLDTFRGVAFVGGFSYADVLGSAKGWAAAVTFHPRAG
AELRRFRKRPDTFSLGVCNGCQLLALLGWVGGDPNEDAAEMGPDSQPARPGLLLRHNLSG
RYESRWASVRVGPGPALMLRGMEGAVLPVWSAHGEGYVAFSSPELQAQIEARGLAPLHWA
DDDGNPTEQYPLNPNGSPGGVAGICSCDGRHLAVMPHPERAVRPWQWAWRPPPFDTLTTS
PWLQLFINARNWTLEGSC
GenBank ID Protein 148922280
UniProtKB/Swiss-Prot ID O15067
UniProtKB/Swiss-Prot Entry Name PUR4_HUMAN
PDB IDs Not Available
GenBank Gene ID BC146768
GeneCard ID PFAS
GenAtlas ID PFAS
HGNC ID HGNC:8863
References
General References
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  2. Mayya V, Lundgren DH, Hwang SI, Rezaul K, Wu L, Eng JK, Rodionov V, Han DK: Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions. Sci Signal. 2009 Aug 18;2(84):ra46. doi: 10.1126/scisignal.2000007. [PubMed:19690332 ]
  3. Olsen JV, Blagoev B, Gnad F, Macek B, Kumar C, Mortensen P, Mann M: Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. Cell. 2006 Nov 3;127(3):635-48. [PubMed:17081983 ]
  4. Zody MC, Garber M, Adams DJ, Sharpe T, Harrow J, Lupski JR, Nicholson C, Searle SM, Wilming L, Young SK, Abouelleil A, Allen NR, Bi W, Bloom T, Borowsky ML, Bugalter BE, Butler J, Chang JL, Chen CK, Cook A, Corum B, Cuomo CA, de Jong PJ, DeCaprio D, Dewar K, FitzGerald M, Gilbert J, Gibson R, Gnerre S, Goldstein S, Grafham DV, Grocock R, Hafez N, Hagopian DS, Hart E, Norman CH, Humphray S, Jaffe DB, Jones M, Kamal M, Khodiyar VK, LaButti K, Laird G, Lehoczky J, Liu X, Lokyitsang T, Loveland J, Lui A, Macdonald P, Major JE, Matthews L, Mauceli E, McCarroll SA, Mihalev AH, Mudge J, Nguyen C, Nicol R, O'Leary SB, Osoegawa K, Schwartz DC, Shaw-Smith C, Stankiewicz P, Steward C, Swarbreck D, Venkataraman V, Whittaker CA, Yang X, Zimmer AR, Bradley A, Hubbard T, Birren BW, Rogers J, Lander ES, Nusbaum C: DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage. Nature. 2006 Apr 20;440(7087):1045-9. [PubMed:16625196 ]
  5. Patterson D, Bleskan J, Gardiner K, Bowersox J: Human phosphoribosylformylglycineamide amidotransferase (FGARAT): regional mapping, complete coding sequence, isolation of a functional genomic clone, and DNA sequence analysis. Gene. 1999 Nov 1;239(2):381-91. [PubMed:10548741 ]
  6. Nagase T, Ishikawa K, Nakajima D, Ohira M, Seki N, Miyajima N, Tanaka A, Kotani H, Nomura N, Ohara O: Prediction of the coding sequences of unidentified human genes. VII. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro. DNA Res. 1997 Apr 28;4(2):141-50. [PubMed:9205841 ]