Phosphoribosylformylglycinamidine synthase

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O15067 (PUR4_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified May 1, 2013. Version 125. History...

Clusters with 100%, 90%, 50% identity |

Documents (6) |

Third-party data

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Names·Attributes·General annotation·Ontologies·Interactions·Sequence annotation·Sequences·References·Cross-refs·Entry info·Documents Customize order

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) [Reference 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.
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 from N(2)-formyl-N(1)-(5-phospho-D-ribosyl)glycinamide: step 1/2.
Subcellular location	Cytoplasm By similarity.
Sequence similarities	In the N-terminal section; belongs to the FGAMS family. Contains 1 glutamine amidotransferase type-1 domain.
Sequence caution	The sequence BAA20816.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.

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 Reference proteome
Gene Ontology (GO)
Biological_process	'de novo' IMP biosynthetic process Non-traceable author statement Ref.1. Source: UniProtKB glutamine metabolic process Inferred from electronic annotation. Source: UniProtKB-KW purine nucleobase metabolic process Traceable author statement. Source: Reactome response to drug Inferred from electronic annotation. Source: Compara
Cellular_component	cytosol Traceable author statement. Source: Reactome
Molecular_function	ATP binding Inferred from electronic annotation. Source: UniProtKB-KW phosphoribosylformylglycinamidine synthase activity Inferred from direct assay Ref.1. Source: UniProtKB
Complete GO annotation...

Binary interactions

With	Entry	#Exp.	IntAct
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

ATP Potential

Sites

Active site

1158

For GATase activity By similarity

Amino acid modifications

Modified residue

569

Phosphoserine Ref.5 Ref.7 Ref.9

Modified residue

619

Phosphothreonine Ref.6 Ref.7

Modified residue

623

Phosphothreonine Ref.6

Natural variations

Natural variant

P → S. Ref.1 Ref.2 Ref.4
Corresponds to variant rs9891699 [ dbSNP | Ensembl ].

VAR_055008

Natural variant

367

P → L. Ref.1 Ref.2 Ref.4
Corresponds to variant rs4791641 [ dbSNP | Ensembl ].

VAR_055009

Natural variant

481

F → Y.
Corresponds to variant rs35217368 [ dbSNP | Ensembl ].

VAR_055010

Natural variant

621

L → P. Ref.1 Ref.2 Ref.4 Ref.6 Ref.7 Ref.9
Corresponds to variant rs11078738 [ dbSNP | Ensembl ].

VAR_055011

Experimental info

Sequence conflict

1326

F → S Ref.1

Sequence conflict

1326

F → S in BAA20816. Ref.2

Sequence conflict

1326

F → S in AAI46769. Ref.4

Sequence conflict

1326

F → S in AAI67158. Ref.4

Sequences

Sequence

Length

Mass (Da)

Tools

O15067 [UniParc].

Last modified January 11, 2011. Version 4.
Checksum: 273405025B701DAF
Show »

FASTA

1,338

144,734

        10         20         30         40         50         60 
MSPVLHFYVR PSGHEGAAPG 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

« Hide

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] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANTS SER-19; 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] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANTS SER-19; 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. Nusbaum C. Nature 440:1045-1049(2006) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[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] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANTS SER-19; 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] [Europe PMC] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-569, MASS SPECTROMETRY. Tissue: Cervix carcinoma.
[6]	"Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions." Mayya V., Lundgren D.H., Hwang S.-I., Rezaul K., Wu L., Eng J.K., Rodionov V., Han D.K. Sci. Signal. 2:RA46-RA46(2009) [PubMed] [Europe PMC] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT THR-619 AND THR-623, VARIANT [LARGE SCALE ANALYSIS] PRO-621, MASS SPECTROMETRY. Tissue: Leukemic T-cell.
[7]	"Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis." Olsen J.V., Vermeulen M., Santamaria A., Kumar C., Miller M.L., Jensen L.J., Gnad F., Cox J., Jensen T.S., Nigg E.A., Brunak S., Mann M. Sci. Signal. 3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-569 AND THR-619, VARIANT [LARGE SCALE ANALYSIS] PRO-621, MASS SPECTROMETRY. Tissue: Cervix carcinoma.
[8]	"Initial characterization of the human central proteome." Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J. BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract] Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[9]	"System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation." Rigbolt K.T., Prokhorova T.A., Akimov V., Henningsen J., Johansen P.T., Kratchmarova I., Kassem M., Mann M., Olsen J.V., Blagoev B. Sci. Signal. 4:RS3-RS3(2011) [PubMed] [Europe PMC] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-569, VARIANT [LARGE SCALE ANALYSIS] PRO-621, MASS SPECTROMETRY.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	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.
RefSeq	NP_036525.1. NM_012393.2.
UniGene	Hs.573976.
3D structure databases
ProteinModelPortal	O15067.
SMR	O15067. Positions 304-572, 1063-1302.
ModBase	Search...
Protein-protein interaction databases
IntAct	O15067. 5 interactions.
STRING	9606.ENSP00000313490.
Protein family/group databases
MEROPS	C56.972.
PTM databases
PhosphoSite	O15067.
Proteomic databases
PaxDb	O15067.
PRIDE	O15067.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000314666; ENSP00000313490; ENSG00000178921.
GeneID	5198.
KEGG	hsa:5198.
UCSC	uc002gkr.3. human.
Organism-specific databases
CTD	5198.
GeneCards	GC17P008152.
H-InvDB	HIX0019361.
HGNC	HGNC:8863. PFAS.
HPA	HPA022140. HPA022886.
MIM	602133. gene.
neXtProt	NX_O15067.
HUGE	Search...
GenAtlas	Search...
Phylogenomic databases
eggNOG	COG0046.
HOGENOM	HOG000261358.
HOVERGEN	HBG108309.
InParanoid	O15067.
KO	K01952.
OMA	SASAKMC.
OrthoDB	EOG4WDD9X.
PhylomeDB	O15067.
Enzyme and pathway databases
Reactome	REACT_111217. Metabolism.
UniPathway	UPA00074; UER00128.
Gene expression databases
ArrayExpress	O15067.
Bgee	O15067.
CleanEx	HS_PFAS.
Genevestigator	O15067.
GermOnline	ENSG00000178921. Homo sapiens.
Family and domain databases
InterPro	IPR010918. AIR_synth_C_dom. IPR000728. AIR_synth_N_dom. IPR017926. GATASE_1. IPR010073. PRibForGlyAmidine_synth. IPR016188. PurM_N-like. [Graphical view]
Pfam	PF00586. AIRS. 1 hit. PF02769. AIRS_C. 2 hits. [Graphical view]
SUPFAM	SSF56042. AIR_synth_C. 2 hits. SSF55326. PurM_N-like. 2 hits.
TIGRFAMs	TIGR01735. FGAM_synt. 1 hit.
PROSITE	PS51273. GATASE_TYPE_1. 1 hit. [Graphical view]
ProtoNet	Search...
Other
ChiTaRS	PFAS. human.
DrugBank	DB00142. L-Glutamic Acid. DB00130. L-Glutamine.
GenomeRNAi	5198.
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:	January 11, 2011
Last modified:	May 1, 2013
This is version 125 of the entry and version 4 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Relevant documents

Human chromosome 17

Human chromosome 17: entries, gene names and cross-references to MIM

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

PATHWAY comments

Index of metabolic and biosynthesis pathways

SIMILARITY comments

Index of protein domains and families

Names·Attributes·General annotation·Ontologies·Interactions·Sequence annotation·Sequences·References·Cross-refs·Entry info·Documents

Preferred order of sections

Names and origin

Protein attributes

General annotation (Comments)

Ontologies

Binary interactions

With

Entry

#Exp.

IntAct

Notes

Sequence annotation (Features)

Molecule processing

Regions

Sites

Amino acid modifications

Natural variations

Experimental info

Sequences

References

Cross-references

Sequence databases

3D structure databases

Protein-protein interaction databases

Protein family/group databases

PTM databases

Proteomic databases

Protocols and materials databases

Genome annotation databases

Organism-specific databases

Phylogenomic databases

Enzyme and pathway databases

Gene expression databases

Family and domain databases

Other

Entry information

Relevant documents