PFAS

Protein identityUniProt · HPA

UniProt accession

O15067

Gene

PFAS

Ensembl

ENSG00000178921

Chromosome

17

Canonical length

1338 aa

Protein class

Enzymes, Metabolic proteins, Plasma proteins, Predicted intracellular proteins

Subcellular location

Vesicles

OverviewNCBI Gene

Purines are necessary for many cellular processes, including DNA replication, transcription, and energy metabolism. Ten enzymatic steps are required to synthesize inosine monophosphate (IMP) in the de novo pathway of purine biosynthesis. The enzyme encoded by this gene catalyzes the fourth step of IMP biosynthesis. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

1338 residues, UniProt reviewed canonical sequence.

>O15067|PFAS
     1  MSPVLHFYVR PSGHEGAAPG HTRRKLQGKL PELQGVETEL CYNVNWTAEA LPSAEETKKL
    61  MWLFGCPLLL DDVARESWLL PGSNDLLLEV GPRLNFSTPT STNIVSVCRA TGLGPVDRVE
   121  TTRRYRLSFA HPPSAEVEAI ALATLHDRMT EQHFPHPIQS FSPESMPEPL NGPINILGEG
   181  RLALEKANQE LGLALDSWDL DFYTKRFQEL QRNPSTVEAF DLAQSNSEHS RHWFFKGQLH
   241  VDGQKLVHSL FESIMSTQES SNPNNVLKFC DNSSAIQGKE VRFLRPEDPT RPSRFQQQQG
   301  LRHVVFTAET HNFPTGVCPF SGATTGTGGR IRDVQCTGRG AHVVAGTAGY CFGNLHIPGY
   361  NLPWEDPSFQ YPGNFARPLE VAIEASNGAS DYGNKFGEPV LAGFARSLGL QLPDGQRREW
   421  IKPIMFSGGI GSMEADHISK EAPEPGMEVV KVGGPVYRIG VGGGAASSVQ VQGDNTSDLD
   481  FGAVQRGDPE MEQKMNRVIR ACVEAPKGNP ICSLHDQGAG GNGNVLKELS DPAGAIIYTS
   541  RFQLGDPTLN ALEIWGAEYQ ESNALLLRSP NRDFLTHVSA RERCPACFVG TITGDRRIVL
   601  VDDRECPVRR NGQGDAPPTP LPTPVDLELE WVLGKMPRKE FFLQRKPPML QPLALPPGLS
   661  VHQALERVLR LPAVASKRYL TNKVDRSVGG LVAQQQCVGP LQTPLADVAV VALSHEELIG
   721  AATALGEQPV KSLLDPKVAA RLAVAEALTN LVFALVTDLR DVKCSGNWMW AAKLPGEGAA
   781  LADACEAMVA VMAALGVAVD GGKDSLSMAA RVGTETVRAP GSLVISAYAV CPDITATVTP
   841  DLKHPEGRGH LLYVALSPGQ HRLGGTALAQ CFSQLGEHPP DLDLPENLVR AFSITQGLLK
   901  DRLLCSGHDV SDGGLVTCLL EMAFAGNCGL QVDVPVPRVD VLSVLFAEEP GLVLEVQEPD
   961  LAQVLKRYRD AGLHCLELGH TGEAGPHAMV RVSVNGAVVL EEPVGELRAL WEETSFQLDR
  1021  LQAEPRCVAE EERGLRERMG PSYCLPPTFP KASVPREPGG PSPRVAILRE EGSNGDREMA
  1081  DAFHLAGFEV WDVTMQDLCS GAIGLDTFRG VAFVGGFSYA DVLGSAKGWA AAVTFHPRAG
  1141  AELRRFRKRP DTFSLGVCNG CQLLALLGWV GGDPNEDAAE MGPDSQPARP GLLLRHNLSG
  1201  RYESRWASVR VGPGPALMLR GMEGAVLPVW SAHGEGYVAF SSPELQAQIE ARGLAPLHWA
  1261  DDDGNPTEQY PLNPNGSPGG VAGICSCDGR HLAVMPHPER AVRPWQWAWR PPPFDTLTTS
  1321  PWLQLFINAR NWTLEGSC

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against PFAS can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Intracellular

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.18

Highest tissue expression

11 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about PFAS.

Disease | GeneticClinVar

3 pathogenic / likely-pathogenic of 220 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Phosphoribosylformylglycineamidine synthase deficiency

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.77

gnomAD pLI

0

gnomAD missense Z

0.96

DepMap mean gene effect

-0.41

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• 'de novo' AMP biosynthetic process
• 'de novo' IMP biosynthetic process
• 'de novo' XMP biosynthetic process
• anterior head development
• glutamine metabolic process
• GMP biosynthetic process
• purine nucleotide biosynthetic process
• purine ribonucleoside monophosphate biosynthetic process
• response to xenobiotic stimulus

Molecular functions

• ATP binding
• metal ion binding
• phosphoribosylformylglycinamidine synthase activity

Cellular components

• cytoplasm
• cytosol
• extracellular exosome

Protein domainsUniProt · Pfam · InterPro

• PurM-like, C-terminal domain
• Class I glutamine amidotransferase-like
• PurM-like, C-terminal domain superfamily
• PurM-like, N-terminal domain superfamily
• AIR synthase related protein, C-terminal domain
• Phosphoribosylformylglycinamidine synthase PurL
• Phosphoribosylformylglycinamidine synthase subunit PurS-like superfamily
• Phosphoribosylformylglycinamidine synthase, N-terminal
• Phosphoribosylformylglycinamidine synthase, linker domain
• FGAR-AT, PurM N-terminal-like domain
• CobB/CobQ-like glutamine amidotransferase domain
• Formylglycinamide ribonucleotide amidotransferase linker domain
• Formylglycinamide ribonucleotide amidotransferase N-terminal
• FGAR-AT PurM_N-like domain

KeywordsUniProt

• ATP-binding
• Cytoplasm
• Glutamine amidotransferase
• Ligase
• Magnesium
• Metal-binding
• Nucleotide-binding
• Phosphoprotein
• Purine biosynthesis