Reviewed, UniProtKB/Swiss-Prot O15067 (PUR4_HUMAN)

Names and origin

Protein names

Recommended name:
    Phosphoribosylformylglycinamidine synthase
      Short name=FGAM synthase
      Short name=FGAMS
    EC=6.3.5.3
Alternative name(s):
    Formylglycinamide ribotide amidotransferase
      Short name=FGARAT
    Formylglycinamide ribotide synthetase

Gene names

Name:	PFAS
Synonyms:	KIAA0361

Organism

Homo sapiens (Human) [Complete proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	1338 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is not processed.
Protein existence	Evidence at protein level.

General annotation (Comments)

Catalytic activity	ATP + N(2)-formyl-N(1)-(5-phospho-D-ribosyl)glycinamide + L-glutamine + H2O = ADP + phosphate + 2-(formamido)-N(1)-(5-phospho-D-ribosyl)acetamidine + L-glutamate.
Pathway	Purine metabolism; IMP biosynthesis via de novo pathway; 5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamide from N(2)-formyl-N(1)-(5-phospho-D-ribosyl)glycinamide: step 1/5.
Subcellular location	Cytoplasm By similarity.
Sequence similarities	In the N-terminal section; belongs to the FGAMS family. Contains 1 glutamine amidotransferase type-1 domain.

Ontologies

Keywords
Biological process	Purine biosynthesis
Cellular component	Cytoplasm
Coding sequence diversity	Polymorphism
Domain	Glutamine amidotransferase
Ligand	ATP-binding Nucleotide-binding
Molecular function	Ligase
PTM	Phosphoprotein
Technical term	Complete proteome
Gene Ontology (GO)
Biological process	'de novo' IMP biosynthetic process Ref.1 Non-traceable author statement. Source: UniProtKB glutamine metabolic process Inferred from electronic annotation. Source: UniProtKB-KW
Cellular component	cytosol Inferred from Experiment. Source: Reactome
Molecular function	ATP binding Inferred from electronic annotation. Source: UniProtKB-KW phosphoribosylformylglycinamidine synthase activity Ref.1 Inferred from direct assay. Source: UniProtKB protein binding Inferred from physical interaction. Source: IntAct
Complete GO annotation...

Binary interactions

With	Entry	#Exp.	IntAct	Notes
EPB41	P11171	1	EBI-1052653,EBI-1050906
HLA-B	P30480	1	EBI-1052653,EBI-1054175
MCC	P23508	1	EBI-1052653,EBI-307531
TFE3	P19532	1	EBI-1052653,EBI-1048957
TNFRSF10D	Q9UBN6	1	EBI-1052653,EBI-1044859
TRAF6	Q9Y4K3	1	EBI-1052653,EBI-359276
VHL	P40337	1	EBI-1052653,EBI-301246

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 1338	1338	Phosphoribosylformylglycinamidine synthase		PRO_0000100401
Regions
	Domain	1064 – 1302	239	Glutamine amidotransferase type-1
	Nucleotide binding	322 – 333	12	ATP Potential
Sites
	Active site	1158	1	For GATase activity By similarity
Amino acid modifications
	Modified residue	569	1	Phosphoserine Ref.5
Natural variations
	Natural variant	19	1	S → P: dbSNP rs9891699. Ref.3		VAR_055008
	Natural variant	367	1	P → L: dbSNP rs4791641. Ref.1 Ref.2 Ref.4		VAR_055009
	Natural variant	481	1	F → Y: dbSNP rs35217368.		VAR_055010
	Natural variant	621	1	L → P: dbSNP rs11078738. Ref.1 Ref.2 Ref.4		VAR_055011
Experimental info
	Sequence conflict	1326	1	F → S Ref.1
	Sequence conflict	1326	1	F → S in BAA20816. Ref.2
	Sequence conflict	1326	1	F → S in AAI46769. Ref.4
	Sequence conflict	1326	1	F → S in AAI67158. Ref.4

Sequences

	Sequence		Length	Mass (Da)
	O15067-1 [UniParc]. Last modified May 5, 2009. Version 3. Checksum: FCE1C26E8BF97253	FASTA	1,338	144,724
	10 20 30 40 50 60 MSPVLHFYVR PSGHEGAASG HTRRKLQGKL PELQGVETEL CYNVNWTAEA LPSAEETKKL 70 80 90 100 110 120 MWLFGCPLLL DDVARESWLL PGSNDLLLEV GPRLNFSTPT STNIVSVCRA TGLGPVDRVE 130 140 150 160 170 180 TTRRYRLSFA HPPSAEVEAI ALATLHDRMT EQHFPHPIQS FSPESMPEPL NGPINILGEG 190 200 210 220 230 240 RLALEKANQE LGLALDSWDL DFYTKRFQEL QRNPSTVEAF DLAQSNSEHS RHWFFKGQLH 250 260 270 280 290 300 VDGQKLVHSL FESIMSTQES SNPNNVLKFC DNSSAIQGKE VRFLRPEDPT RPSRFQQQQG 310 320 330 340 350 360 LRHVVFTAET HNFPTGVCPF SGATTGTGGR IRDVQCTGRG AHVVAGTAGY CFGNLHIPGY 370 380 390 400 410 420 NLPWEDPSFQ YPGNFARPLE VAIEASNGAS DYGNKFGEPV LAGFARSLGL QLPDGQRREW 430 440 450 460 470 480 IKPIMFSGGI GSMEADHISK EAPEPGMEVV KVGGPVYRIG VGGGAASSVQ VQGDNTSDLD 490 500 510 520 530 540 FGAVQRGDPE MEQKMNRVIR ACVEAPKGNP ICSLHDQGAG GNGNVLKELS DPAGAIIYTS 550 560 570 580 590 600 RFQLGDPTLN ALEIWGAEYQ ESNALLLRSP NRDFLTHVSA RERCPACFVG TITGDRRIVL 610 620 630 640 650 660 VDDRECPVRR NGQGDAPPTP LPTPVDLELE WVLGKMPRKE FFLQRKPPML QPLALPPGLS 670 680 690 700 710 720 VHQALERVLR LPAVASKRYL TNKVDRSVGG LVAQQQCVGP LQTPLADVAV VALSHEELIG 730 740 750 760 770 780 AATALGEQPV KSLLDPKVAA RLAVAEALTN LVFALVTDLR DVKCSGNWMW AAKLPGEGAA 790 800 810 820 830 840 LADACEAMVA VMAALGVAVD GGKDSLSMAA RVGTETVRAP GSLVISAYAV CPDITATVTP 850 860 870 880 890 900 DLKHPEGRGH LLYVALSPGQ HRLGGTALAQ CFSQLGEHPP DLDLPENLVR AFSITQGLLK 910 920 930 940 950 960 DRLLCSGHDV SDGGLVTCLL EMAFAGNCGL QVDVPVPRVD VLSVLFAEEP GLVLEVQEPD 970 980 990 1000 1010 1020 LAQVLKRYRD AGLHCLELGH TGEAGPHAMV RVSVNGAVVL EEPVGELRAL WEETSFQLDR 1030 1040 1050 1060 1070 1080 LQAEPRCVAE EERGLRERMG PSYCLPPTFP KASVPREPGG PSPRVAILRE EGSNGDREMA 1090 1100 1110 1120 1130 1140 DAFHLAGFEV WDVTMQDLCS GAIGLDTFRG VAFVGGFSYA DVLGSAKGWA AAVTFHPRAG 1150 1160 1170 1180 1190 1200 AELRRFRKRP DTFSLGVCNG CQLLALLGWV GGDPNEDAAE MGPDSQPARP GLLLRHNLSG 1210 1220 1230 1240 1250 1260 RYESRWASVR VGPGPALMLR GMEGAVLPVW SAHGEGYVAF SSPELQAQIE ARGLAPLHWA 1270 1280 1290 1300 1310 1320 DDDGNPTEQY PLNPNGSPGG VAGICSCDGR HLAVMPHPER AVRPWQWAWR PPPFDTLTTS 1330 PWLQLFINAR NWTLEGSC

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Human phosphoribosylformylglycinamide amidotransferase (FGARAT): regional mapping, complete coding sequence, isolation of a functional genomic clone, and DNA sequence analysis." Patterson D., Bleskan J., Gardiner K., Bowersox J. Gene 239:381-391(1999) [PubMed: 10548741] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANTS LEU-367 AND PRO-621.
[2]	"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." Nagase T., Ishikawa K., Nakajima D., Ohira M., Seki N., Miyajima N., Tanaka A., Kotani H., Nomura N., Ohara O. DNA Res. 4:141-150(1997) [PubMed: 9205841] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANTS LEU-367 AND PRO-621. Tissue: Brain.
[3]	"DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage." Zody M.C., Garber M., Adams D.J., Sharpe T., Harrow J., Lupski J.R., Nicholson C., Searle S.M., Wilming L., Young S.K., Abouelleil A., Allen N.R., Bi W., Bloom T., Borowsky M.L., Bugalter B.E., Butler J., Chang J.L. , Chen C.-K., Cook A., Corum B., Cuomo C.A., de Jong P.J., DeCaprio D., Dewar K., FitzGerald M., Gilbert J., Gibson R., Gnerre S., Goldstein S., Grafham D.V., Grocock R., Hafez N., Hagopian D.S., Hart E., Norman C.H., Humphray S., Jaffe D.B., Jones M., Kamal M., Khodiyar V.K., LaButti K., Laird G., Lehoczky J., Liu X., Lokyitsang T., Loveland J., Lui A., Macdonald P., Major J.E., Matthews L., Mauceli E., McCarroll S.A., Mihalev A.H., Mudge J., Nguyen C., Nicol R., O'Leary S.B., Osoegawa K., Schwartz D.C., Shaw-Smith C., Stankiewicz P., Steward C., Swarbreck D., Venkataraman V., Whittaker C.A., Yang X., Zimmer A.R., Bradley A., Hubbard T., Birren B.W., Rogers J., Lander E.S., Nusbaum C. Nature 440:1045-1049(2006) [PubMed: 16625196] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], VARIANT PRO-19.
[4]	"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANTS LEU-367 AND PRO-621.
[5]	"Global, in vivo, and site-specific phosphorylation dynamics in signaling networks." Olsen J.V., Blagoev B., Gnad F., Macek B., Kumar C., Mortensen P., Mann M. Cell 127:635-648(2006) [PubMed: 17081983] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-569, MASS SPECTROMETRY. Tissue: Epithelium.
[6]	Colinge J., Superti-Furga G., Bennett K.L. Submitted (OCT-2008) to UniProtKB Cited for: IDENTIFICATION [LARGE SCALE ANALYSIS], MASS SPECTROMETRY.

Cross-references

Sequence databases
EMBLGenBankDDBJ	AB002359 mRNA. Translation: BAA20816.1. Different initiation. AC135178 Genomic DNA. No translation available. BC146768 mRNA. Translation: AAI46769.1. BC167158 mRNA. Translation: AAI67158.1.
IPI	IPI00004534.
UniGene	Hs.573976
3D structure databases
ModBase	Search...
Protein-protein interaction databases
IntAct	O15067. 13 interactions.
Protein family/group databases
MEROPS	C56.972.
PTM databases
PhosphoSite	O15067.
Proteomic databases
PRIDE	O15067.
Genome annotation databases
Ensembl	ENSG00000178921. Homo sapiens. [Contig view]
Organism-specific databases
GeneCards	GC17P008093.
H-InvDB	HIX0019361.
HGNC	HGNC:8863. PFAS.
MIM	602133. gene.
PharmGKB	PA33205.
HUGE	Search...
GenAtlas	Search...
Phylogenomic databases
HOGENOM	O15067.
HOVERGEN	O15067.
Enzyme and pathway databases
BRENDA	6.3.5.3. 247.
Reactome	REACT_1698. Metablism of nucleotides.
Gene expression databases
ArrayExpress	O15067.
Bgee	O15067.
CleanEx	HS_PFAS.
GermOnline	ENSG00000178921. Homo sapiens.
Family and domain databases
InterPro	IPR000728. AIR_synth. IPR010918. AIR_synth_C. IPR010073. PRibForGlyAmidine_synth. [Graphical view]
Pfam	PF00586. AIRS. 1 hit. PF02769. AIRS_C. 2 hits. [Graphical view]
TIGRFAMs	TIGR01735. FGAM_synt. 1 hit.
PROSITE	PS51273. GATASE_TYPE_1. 1 hit. [Graphical view]
ProtoNet	Search...
Other Resources
DrugBank	DB00142. L-Glutamic Acid. DB00130. L-Glutamine.
NextBio	20106.
SOURCE	Search...

Entry information

Entry name

PUR4_HUMAN

Accession

Primary (citable) accession number: O15067
Secondary accession number(s): A6H8V8

Entry history

Integrated into UniProtKB/Swiss-Prot:	January 11, 2001
Last sequence update:	May 5, 2009
Last modified:	July 7, 2009
This is version 88 of the entry and version 3 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)