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Protein

Phosphoribosylformylglycinamidine synthase

Gene

PFAS

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Phosphoribosylformylglycinamidine synthase involved in the purines biosynthetic pathway. Catalyzes the ATP-dependent conversion of formylglycinamide ribonucleotide (FGAR) and glutamine to yield formylglycinamidine ribonucleotide (FGAM) and glutamate (By similarity).By similarity

Catalytic activityi

ATP + N2-formyl-N1-(5-phospho-D-ribosyl)glycinamide + L-glutamine + H2O = ADP + phosphate + 2-(formamido)-N1-(5-phospho-D-ribosyl)acetamidine + L-glutamate.

Pathwayi: IMP biosynthesis via de novo pathway

This protein is involved in step 1 of the subpathway that synthesizes 5-amino-1-(5-phospho-D-ribosyl)imidazole from N(2)-formyl-N(1)-(5-phospho-D-ribosyl)glycinamide.
Proteins known to be involved in the 2 steps of the subpathway in this organism are:
  1. Phosphoribosylformylglycinamidine synthase (PFAS)
  2. Trifunctional purine biosynthetic protein adenosine-3 (GART), Trifunctional purine biosynthetic protein adenosine-3 (GART), Trifunctional purine biosynthetic protein adenosine-3
This subpathway is part of the pathway IMP biosynthesis via de novo pathway, which is itself part of Purine metabolism.
View all proteins of this organism that are known to be involved in the subpathway that synthesizes 5-amino-1-(5-phospho-D-ribosyl)imidazole from N(2)-formyl-N(1)-(5-phospho-D-ribosyl)glycinamide, the pathway IMP biosynthesis via de novo pathway and in Purine metabolism.

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Binding sitei706ATP; via carbonyl oxygenBy similarity1
Metal bindingi707MagnesiumBy similarity1
Metal bindingi746MagnesiumBy similarity1
Metal bindingi750MagnesiumBy similarity1
Metal bindingi909MagnesiumBy similarity1
Binding sitei911ATPBy similarity1
Active sitei1158NucleophileBy similarity1
Active sitei1297By similarity1
Active sitei1299By similarity1

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Nucleotide bindingi322 – 333ATPSequence analysisAdd BLAST12
Nucleotide bindingi402 – 404ATPBy similarity3

GO - Molecular functioni

  • ATP binding Source: UniProtKB-KW
  • metal ion binding Source: UniProtKB-KW
  • phosphoribosylformylglycinamidine synthase activity Source: UniProtKB

GO - Biological processi

Keywordsi

Molecular functionLigase
Biological processPurine biosynthesis
LigandATP-binding, Magnesium, Metal-binding, Nucleotide-binding

Enzyme and pathway databases

BioCyciMetaCyc:HS11329-MONOMER
ReactomeiR-HSA-73817 Purine ribonucleoside monophosphate biosynthesis
UniPathwayi
UPA00074;UER00128

Protein family/group databases

MEROPSiC56.972

Names & Taxonomyi

Protein namesi
Recommended name:
Phosphoribosylformylglycinamidine synthase (EC:6.3.5.3)
Short name:
FGAM synthase
Short name:
FGAMS
Alternative name(s):
Formylglycinamide ribonucleotide amidotransferase
Short name:
FGAR amidotransferase
Short name:
FGAR-AT
Formylglycinamide ribotide amidotransferase
Gene namesi
Name:PFAS
Synonyms:KIAA0361
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 17

Organism-specific databases

EuPathDBiHostDB:ENSG00000178921.13
HGNCiHGNC:8863 PFAS
MIMi602133 gene
neXtProtiNX_O15067

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm

Pathology & Biotechi

Organism-specific databases

DisGeNETi5198
OpenTargetsiENSG00000178921

Chemistry databases

DrugBankiDB00142 L-Glutamic Acid
DB00130 L-Glutamine

Polymorphism and mutation databases

BioMutaiPFAS

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001004011 – 1338Phosphoribosylformylglycinamidine synthaseAdd BLAST1338

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei215PhosphoserineCombined sources1
Modified residuei569PhosphoserineCombined sources1
Modified residuei619PhosphothreonineCombined sources1
Modified residuei623PhosphothreonineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiO15067
MaxQBiO15067
PaxDbiO15067
PeptideAtlasiO15067
PRIDEiO15067
ProteomicsDBi48417

PTM databases

iPTMnetiO15067
PhosphoSitePlusiO15067

Expressioni

Gene expression databases

BgeeiENSG00000178921 Expressed in 205 organ(s), highest expression level in female gonad
CleanExiHS_PFAS
ExpressionAtlasiO15067 baseline and differential
GenevisibleiO15067 HS

Organism-specific databases

HPAiHPA022140
HPA022886

Interactioni

Protein-protein interaction databases

BioGridi111221, 77 interactors
IntActiO15067, 11 interactors
STRINGi9606.ENSP00000313490

Structurei

3D structure databases

ProteinModelPortaliO15067
SMRiO15067
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini1064 – 1302Glutamine amidotransferase type-1Add BLAST239

Sequence similaritiesi

In the N-terminal section; belongs to the FGAMS family.Curated

Keywords - Domaini

Glutamine amidotransferase

Phylogenomic databases

eggNOGiKOG1907 Eukaryota
COG0046 LUCA
COG0047 LUCA
GeneTreeiENSGT00390000007600
HOGENOMiHOG000261358
HOVERGENiHBG108309
InParanoidiO15067
KOiK01952
OMAiSLSANWM
OrthoDBiEOG091G00SI
PhylomeDBiO15067
TreeFamiTF106371

Family and domain databases

Gene3Di3.30.1330.10, 2 hits
3.40.50.880, 1 hit
3.90.650.10, 2 hits
HAMAPiMF_00419 PurL_1, 1 hit
InterProiView protein in InterPro
IPR029062 Class_I_gatase-like
IPR017926 GATASE
IPR010073 PRibForGlyAmidine_synth
IPR010918 PurM-like_C_dom
IPR036676 PurM-like_C_sf
IPR036921 PurM-like_N_sf
IPR036604 PurS-like_sf
PfamiView protein in Pfam
PF02769 AIRS_C, 2 hits
SUPFAMiSSF52317 SSF52317, 1 hit
SSF55326 SSF55326, 2 hits
SSF56042 SSF56042, 2 hits
SSF82697 SSF82697, 1 hit
TIGRFAMsiTIGR01735 FGAM_synt, 1 hit
PROSITEiView protein in PROSITE
PS51273 GATASE_TYPE_1, 1 hit

Sequence (1+)i

Sequence statusi: Complete.

This entry has 1 described isoform and 7 potential isoforms that are computationally mapped.Show allAlign All

O15067-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MSPVLHFYVR PSGHEGAAPG HTRRKLQGKL PELQGVETEL CYNVNWTAEA
60 70 80 90 100
LPSAEETKKL MWLFGCPLLL DDVARESWLL PGSNDLLLEV GPRLNFSTPT
110 120 130 140 150
STNIVSVCRA TGLGPVDRVE TTRRYRLSFA HPPSAEVEAI ALATLHDRMT
160 170 180 190 200
EQHFPHPIQS FSPESMPEPL NGPINILGEG RLALEKANQE LGLALDSWDL
210 220 230 240 250
DFYTKRFQEL QRNPSTVEAF DLAQSNSEHS RHWFFKGQLH VDGQKLVHSL
260 270 280 290 300
FESIMSTQES SNPNNVLKFC DNSSAIQGKE VRFLRPEDPT RPSRFQQQQG
310 320 330 340 350
LRHVVFTAET HNFPTGVCPF SGATTGTGGR IRDVQCTGRG AHVVAGTAGY
360 370 380 390 400
CFGNLHIPGY NLPWEDPSFQ YPGNFARPLE VAIEASNGAS DYGNKFGEPV
410 420 430 440 450
LAGFARSLGL QLPDGQRREW IKPIMFSGGI GSMEADHISK EAPEPGMEVV
460 470 480 490 500
KVGGPVYRIG VGGGAASSVQ VQGDNTSDLD FGAVQRGDPE MEQKMNRVIR
510 520 530 540 550
ACVEAPKGNP ICSLHDQGAG GNGNVLKELS DPAGAIIYTS RFQLGDPTLN
560 570 580 590 600
ALEIWGAEYQ ESNALLLRSP NRDFLTHVSA RERCPACFVG TITGDRRIVL
610 620 630 640 650
VDDRECPVRR NGQGDAPPTP LPTPVDLELE WVLGKMPRKE FFLQRKPPML
660 670 680 690 700
QPLALPPGLS VHQALERVLR LPAVASKRYL TNKVDRSVGG LVAQQQCVGP
710 720 730 740 750
LQTPLADVAV VALSHEELIG AATALGEQPV KSLLDPKVAA RLAVAEALTN
760 770 780 790 800
LVFALVTDLR DVKCSGNWMW AAKLPGEGAA LADACEAMVA VMAALGVAVD
810 820 830 840 850
GGKDSLSMAA RVGTETVRAP GSLVISAYAV CPDITATVTP DLKHPEGRGH
860 870 880 890 900
LLYVALSPGQ HRLGGTALAQ CFSQLGEHPP DLDLPENLVR AFSITQGLLK
910 920 930 940 950
DRLLCSGHDV SDGGLVTCLL EMAFAGNCGL QVDVPVPRVD VLSVLFAEEP
960 970 980 990 1000
GLVLEVQEPD LAQVLKRYRD AGLHCLELGH TGEAGPHAMV RVSVNGAVVL
1010 1020 1030 1040 1050
EEPVGELRAL WEETSFQLDR LQAEPRCVAE EERGLRERMG PSYCLPPTFP
1060 1070 1080 1090 1100
KASVPREPGG PSPRVAILRE EGSNGDREMA DAFHLAGFEV WDVTMQDLCS
1110 1120 1130 1140 1150
GAIGLDTFRG VAFVGGFSYA DVLGSAKGWA AAVTFHPRAG AELRRFRKRP
1160 1170 1180 1190 1200
DTFSLGVCNG CQLLALLGWV GGDPNEDAAE MGPDSQPARP GLLLRHNLSG
1210 1220 1230 1240 1250
RYESRWASVR VGPGPALMLR GMEGAVLPVW SAHGEGYVAF SSPELQAQIE
1260 1270 1280 1290 1300
ARGLAPLHWA DDDGNPTEQY PLNPNGSPGG VAGICSCDGR HLAVMPHPER
1310 1320 1330
AVRPWQWAWR PPPFDTLTTS PWLQLFINAR NWTLEGSC
Length:1,338
Mass (Da):144,734
Last modified:January 11, 2011 - v4
Checksum:i273405025B701DAF
GO

Computationally mapped potential isoform sequencesi

There are 7 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H0YGH1H0YGH1_HUMAN
Phosphoribosylformylglycinamidine s...
PFAS
385Annotation score:
J3KT98J3KT98_HUMAN
Phosphoribosylformylglycinamidine s...
PFAS
116Annotation score:
J3KTQ5J3KTQ5_HUMAN
Phosphoribosylformylglycinamidine s...
PFAS
62Annotation score:
J3QSH6J3QSH6_HUMAN
Phosphoribosylformylglycinamidine s...
PFAS
135Annotation score:
J3KTL4J3KTL4_HUMAN
Phosphoribosylformylglycinamidine s...
PFAS
103Annotation score:
J3QSG0J3QSG0_HUMAN
Phosphoribosylformylglycinamidine s...
PFAS
131Annotation score:
J3QL39J3QL39_HUMAN
Phosphoribosylformylglycinamidine s...
PFAS
87Annotation score:

Sequence cautioni

The sequence BAA20816 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti1326F → S (PubMed:10548741).Curated1
Sequence conflicti1326F → S in BAA20816 (PubMed:9205841).Curated1
Sequence conflicti1326F → S in AAI46769 (PubMed:15489334).Curated1
Sequence conflicti1326F → S in AAI67158 (PubMed:15489334).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_05500819P → S3 PublicationsCorresponds to variant dbSNP:rs9891699Ensembl.1
Natural variantiVAR_055009367P → L3 PublicationsCorresponds to variant dbSNP:rs4791641Ensembl.1
Natural variantiVAR_055010481F → Y. Corresponds to variant dbSNP:rs35217368Ensembl.1
Natural variantiVAR_055011621L → PCombined sources3 PublicationsCorresponds to variant dbSNP:rs11078738Ensembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB002359 mRNA Translation: BAA20816.1 Different initiation.
AC135178 Genomic DNA No translation available.
BC146768 mRNA Translation: AAI46769.1
BC167158 mRNA Translation: AAI67158.1
CCDSiCCDS11136.1
RefSeqiNP_036525.1, NM_012393.2
UniGeneiHs.573976

Genome annotation databases

EnsembliENST00000314666; ENSP00000313490; ENSG00000178921
GeneIDi5198
KEGGihsa:5198
UCSCiuc002gkr.4 human

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB002359 mRNA Translation: BAA20816.1 Different initiation.
AC135178 Genomic DNA No translation available.
BC146768 mRNA Translation: AAI46769.1
BC167158 mRNA Translation: AAI67158.1
CCDSiCCDS11136.1
RefSeqiNP_036525.1, NM_012393.2
UniGeneiHs.573976

3D structure databases

ProteinModelPortaliO15067
SMRiO15067
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi111221, 77 interactors
IntActiO15067, 11 interactors
STRINGi9606.ENSP00000313490

Chemistry databases

DrugBankiDB00142 L-Glutamic Acid
DB00130 L-Glutamine

Protein family/group databases

MEROPSiC56.972

PTM databases

iPTMnetiO15067
PhosphoSitePlusiO15067

Polymorphism and mutation databases

BioMutaiPFAS

Proteomic databases

EPDiO15067
MaxQBiO15067
PaxDbiO15067
PeptideAtlasiO15067
PRIDEiO15067
ProteomicsDBi48417

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000314666; ENSP00000313490; ENSG00000178921
GeneIDi5198
KEGGihsa:5198
UCSCiuc002gkr.4 human

Organism-specific databases

CTDi5198
DisGeNETi5198
EuPathDBiHostDB:ENSG00000178921.13
GeneCardsiPFAS
H-InvDBiHIX0019361
HGNCiHGNC:8863 PFAS
HPAiHPA022140
HPA022886
MIMi602133 gene
neXtProtiNX_O15067
OpenTargetsiENSG00000178921
HUGEiSearch...
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG1907 Eukaryota
COG0046 LUCA
COG0047 LUCA
GeneTreeiENSGT00390000007600
HOGENOMiHOG000261358
HOVERGENiHBG108309
InParanoidiO15067
KOiK01952
OMAiSLSANWM
OrthoDBiEOG091G00SI
PhylomeDBiO15067
TreeFamiTF106371

Enzyme and pathway databases

UniPathwayi
UPA00074;UER00128

BioCyciMetaCyc:HS11329-MONOMER
ReactomeiR-HSA-73817 Purine ribonucleoside monophosphate biosynthesis

Miscellaneous databases

ChiTaRSiPFAS human
GenomeRNAii5198
PROiPR:O15067
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000178921 Expressed in 205 organ(s), highest expression level in female gonad
CleanExiHS_PFAS
ExpressionAtlasiO15067 baseline and differential
GenevisibleiO15067 HS

Family and domain databases

Gene3Di3.30.1330.10, 2 hits
3.40.50.880, 1 hit
3.90.650.10, 2 hits
HAMAPiMF_00419 PurL_1, 1 hit
InterProiView protein in InterPro
IPR029062 Class_I_gatase-like
IPR017926 GATASE
IPR010073 PRibForGlyAmidine_synth
IPR010918 PurM-like_C_dom
IPR036676 PurM-like_C_sf
IPR036921 PurM-like_N_sf
IPR036604 PurS-like_sf
PfamiView protein in Pfam
PF02769 AIRS_C, 2 hits
SUPFAMiSSF52317 SSF52317, 1 hit
SSF55326 SSF55326, 2 hits
SSF56042 SSF56042, 2 hits
SSF82697 SSF82697, 1 hit
TIGRFAMsiTIGR01735 FGAM_synt, 1 hit
PROSITEiView protein in PROSITE
PS51273 GATASE_TYPE_1, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiPUR4_HUMAN
AccessioniPrimary (citable) accession number: O15067
Secondary accession number(s): A6H8V8
Entry historyiIntegrated into UniProtKB/Swiss-Prot: January 11, 2001
Last sequence update: January 11, 2011
Last modified: November 7, 2018
This is version 179 of the entry and version 4 of the sequence. See complete history.
Entry statusiReviewed (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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  6. Human chromosome 17
    Human chromosome 17: entries, gene names and cross-references to MIM
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Main funding by: National Institutes of Health

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