2. Gene
  3. PFAS - phosphoribosylformylglycinamidine synthase Gene

PFAS - phosphoribosylformylglycinamidine synthase Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens

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

Gene ID: 5198 | Gene type: protein coding

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

PFAS Protein Structure

AIRS

AIRS: AIR synthase related protein, N-terminal domain (271 - 404)

AIRS_C

AIRS_C: AIR synthase related protein, C-terminal domain (445 - 600)

AIRS_C

AIRS_C: AIR synthase related protein, C-terminal domain (851 - 986)

GATase_5

GATase_5: CobB/CobQ-like glutamine amidotransferase domain (1063 - 1333)

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  • 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
Bioactive Molecules (2)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-RS10357 PFAS Human Pre-designed siRNA Set A Pre-designed Sets / Unkown
HY-W792491 Perfluoropropanesulfonic 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