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O15067 (PUR4_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 135. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (6) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Interactions·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended 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
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length1338 AA.
Sequence statusComplete.
Protein existenceEvidence 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.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 13381338Phosphoribosylformylglycinamidine synthase
PRO_0000100401

Regions

Domain1064 – 1302239Glutamine amidotransferase type-1
Nucleotide binding322 – 33312ATP Potential

Sites

Active site11581For GATase activity By similarity

Amino acid modifications

Modified residue5691Phosphoserine Ref.5 Ref.7 Ref.9
Modified residue6191Phosphothreonine Ref.6 Ref.7
Modified residue6231Phosphothreonine Ref.6

Natural variations

Natural variant191P → S. Ref.1 Ref.2 Ref.4
Corresponds to variant rs9891699 [ dbSNP | Ensembl ].
VAR_055008
Natural variant3671P → L. Ref.1 Ref.2 Ref.4
Corresponds to variant rs4791641 [ dbSNP | Ensembl ].
VAR_055009
Natural variant4811F → Y.
Corresponds to variant rs35217368 [ dbSNP | Ensembl ].
VAR_055010
Natural variant6211L → P. Ref.1 Ref.2 Ref.4 Ref.6 Ref.7 Ref.9 Ref.10
Corresponds to variant rs11078738 [ dbSNP | Ensembl ].
VAR_055011

Experimental info

Sequence conflict13261F → S Ref.1
Sequence conflict13261F → S in BAA20816. Ref.2
Sequence conflict13261F → S in AAI46769. Ref.4
Sequence conflict13261F → S in AAI67158. Ref.4

Sequences

Sequence LengthMass (Da)Tools
O15067 [UniParc].

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

FASTA1,338144,734
        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' 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. expand/collapse author list , 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] [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, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
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, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
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, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
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, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[10]"Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach."
Gauci S., Helbig A.O., Slijper M., Krijgsveld J., Heck A.J., Mohammed S.
Anal. Chem. 81:4493-4501(2009) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT [LARGE SCALE ANALYSIS] PRO-621, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
+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.
RefSeqNP_036525.1. NM_012393.2.
UniGeneHs.573976.

3D structure databases

ProteinModelPortalO15067.
SMRO15067. Positions 304-572, 960-997, 1063-1302.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid111221. 49 interactions.
IntActO15067. 5 interactions.
STRING9606.ENSP00000313490.

Chemistry

DrugBankDB00142. L-Glutamic Acid.
DB00130. L-Glutamine.

Protein family/group databases

MEROPSC56.972.

PTM databases

PhosphoSiteO15067.

Proteomic databases

PaxDbO15067.
PRIDEO15067.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000314666; ENSP00000313490; ENSG00000178921.
GeneID5198.
KEGGhsa:5198.
UCSCuc002gkr.3. human.

Organism-specific databases

CTD5198.
GeneCardsGC17P008152.
H-InvDBHIX0019361.
HGNCHGNC:8863. PFAS.
HPAHPA022140.
HPA022886.
MIM602133. gene.
neXtProtNX_O15067.
HUGESearch...
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG0046.
HOGENOMHOG000261358.
HOVERGENHBG108309.
InParanoidO15067.
KOK01952.
OMAVCLLEMA.
OrthoDBEOG7353X4.
PhylomeDBO15067.
TreeFamTF106371.

Enzyme and pathway databases

BioCycMetaCyc:HS11329-MONOMER.
ReactomeREACT_111217. Metabolism.
UniPathwayUPA00074; UER00128.

Gene expression databases

ArrayExpressO15067.
BgeeO15067.
CleanExHS_PFAS.
GenevestigatorO15067.

Family and domain databases

Gene3D3.30.1330.10. 2 hits.
InterProIPR010918. AIR_synth_C_dom.
IPR000728. AIR_synth_N_dom.
IPR017926. GATASE.
IPR010073. PRibForGlyAmidine_synth.
IPR016188. PurM_N-like.
[Graphical view]
PfamPF00586. AIRS. 1 hit.
PF02769. AIRS_C. 2 hits.
[Graphical view]
SUPFAMSSF55326. SSF55326. 2 hits.
SSF56042. SSF56042. 2 hits.
TIGRFAMsTIGR01735. FGAM_synt. 1 hit.
PROSITEPS51273. GATASE_TYPE_1. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSPFAS. human.
GenomeRNAi5198.
NextBio20106.
PROO15067.
SOURCESearch...

Entry information

Entry namePUR4_HUMAN
AccessionPrimary (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: April 16, 2014
This is version 135 of the entry and version 4 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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

SIMILARITY comments

Index of protein domains and families

PATHWAY comments

Index of metabolic and biosynthesis pathways

MIM cross-references

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

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 17

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