PFAS - phosphoribosylformylglycinamidine synthase Gene

Also Known as PURL; FGAMS; GATD8; FGARAT; FGAR-AT

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 5198

About PFAS

Cytogenetic location: 17p13.1 Genomic coordinates (GRCh38): 17:8,247,608-8,270,486 (from NCBI)

This gene has 12 transcripts (splice variants) and 193 orthologues. Ubiquitous expression in lymph node (RPKM 4.9), appendix (RPKM 4.3) and 25 other tissues.

Summary

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]

PFAS Products (1)

mRNA	Protein	Name
NM_012393.3	NP_036525.1	phosphoribosylformylglycinamidine synthase

Gene Ontology

Molecular Function
Biological Process

Molecular Function GO Annotation	Evidence	References	Source
enables phosphoribosylformylglycinamidine synthase activity	IDA IDA: Inferred from direct assay	10548741	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in 'de novo' AMP biosynthetic process	IDA IDA: Inferred from direct assay	27590927	GOA
involved in 'de novo' IMP biosynthetic process	IDA IDA: Inferred from direct assay	27590927	GOA
involved in 'de novo' XMP biosynthetic process	IDA IDA: Inferred from direct assay	27590927	GOA
involved in GMP biosynthetic process	IDA IDA: Inferred from direct assay	27590927	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

PFAS Protein Structure

AIRS

AIRS_C

GATase_5

0
300
600
900
1200
1338 a.a.

Protein Preferred Names	Protein Names
phosphoribosylformylglycinamidine synthase	FGAM synthase

Related Diseases

Diseases	Alias
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Coats Plus Syndrome Cerebroretinal Microangiopathy With Calcifications And Cysts Crmcc CRMCC1 Microangiopathy, Cerebroretinal, With Calcifications And Cysts Cerebral Small Vessel Diseases
Dyskeratosis Congenita	Dyskeratosis Congenita Autosomal Dominant Dc Dkc Zinsser-Engman-Cole Syndrome Dyskeratosis Congenita, Autosomal Dominant Autosomal Dominant Dyskeratosis Congenita Dkca Dyskeratosis Congenita Scoggins Type Zinsser-Cole-Engman Syndrome X-Linked Dyskeratosis Congenita Hoyeraal-Hreidarsson Syndrome
Vulvar Keratoacanthoma-Like Carcinoma
Partial Fetal Alcohol Syndrome
Choriocarcinoma Of Ovary	Ovarian Choriocarcinoma
Alcohol-Related Birth Defects	Arbd Alcohol-Related Birth Defect Alcohol Related Birth Defect Fetal Alcohol Syndrome
Dystonia 16	DYT16 Dyt-Prkra Dystonia-16 Young-Onset Dystonia- Early-Onset Dystonia Parkinsonism Dystonia, Type 16

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (16)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-DY3003	Tissue and Cell Fixative (4% Paraformaldehyde, PFA)		/	Unkown
HY-W792491	Perfluoropropanesulfonic acid		99.02%	Unkown
HY-W142432	Perfluoroundecanoic acid	Activator	99.85%	Unkown
HY-W674169	Perfluorobutanesulfonamide		98.56%	Unkown
HY-169848	(S)-Batylalcohol	Inhibitor	99.86%	Unkown
HY-21200	Perfluoroheptanesulfonic acid		97.7%	Unkown
HY-115701	1-Stearoyl-2-15(S)-Hpete-Sn-Glycero-3-Pe	Inducer	95.1%	Unkown
HY-W080797	4,4,5,5,6,6,6-Heptafluorohexanoic acid		98.0%	Unkown
HY-RS10357	PFAS Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-W142432S	Perfluoroundecanoic acid-13C7		/	Unkown
HY-181266	Antimalarial agent 55	Inhibitor	/	Unkown
HY-184758	3-O-Octadecyl-sn-glycerol		/	Unkown
HY-RS19931	Pfas Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS26433	Pfas Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS28695	Fnta Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-W679758	1H,1H,2H,2H-Perfluorodecanesulfonic acid		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	PFAS	VGNC	VGNC:68800
Canis familiaris	PFAS	VGNC	VGNC:44439
Macaca mulatta	PFAS	VGNC	VGNC:75955
Mus musculus	PFAS	MGD	MGI:2684864
Bos taurus	PFAS	VGNC	VGNC:32765
Rattus norvegicus	PFAS	RGD	RGD:1304926
Others	PFAS	NCBI