EuRBPDB

Description

Ensembl ID: ENSG00000178921 (Gene tree)
Gene ID: 5198
Gene Symbol: PFAS
Alias: PURL|FGARAT|KIAA0361|GATD8
Full Name: phosphoribosylformylglycinamidine synthase
Gene Type: protein_coding
Species: Homo_sapiens
Status: putative
Strand: Plus strand
Length: 22,874 bases
Position: chr17:8,247,618-8,270,491
Accession: 8863
RBP type: non-canonical RBP
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]

RNA binding proteome (RBPome)

PID	Title	Method	Time	Author	Doi
30607034	Comprehensive identification of RNA protein interactions in any organism using orthogonal organic phase separation (OOPS)	OOPS & HEK293	2019 Jan 3	Queiroz RML	DOI: 10.1038/s41587-018-0001-2
29431736	Capturing the interactome of newly transcribed RNA	PolyT-RICK & Hela	2018 Feb 12	Bao X	DOI: 10.1038/nmeth.4595
29431736	Capturing the interactome of newly transcribed RNA	RICK & Hela	2018 Feb 12	Bao X	DOI: 10.1038/nmeth.4595
30607034	Comprehensive identification of RNA protein interactions in any organism using orthogonal organic phase separation (OOPS)	OOPS & MCF10A	2019 Jan 3	Queiroz RML	DOI: 10.1038/s41587-018-0001-2
30607034	Comprehensive identification of RNA protein interactions in any organism using orthogonal organic phase separation (OOPS)	OOPS & U2OS	2019 Jan 3	Queiroz RML	DOI: 10.1038/s41587-018-0001-2

Expression

Transcripts

Transcript ID	Name	Length	RefSeq ID	Protein ID	Length	RefSeq ID	UniportKB ID
ENST00000584044	PFAS-209	557	-	ENSP00000464689	135 (aa)	-	J3QSH6
ENST00000546020	PFAS-202	2652	-	ENSP00000443244	385 (aa)	-	H0YGH1
ENST00000625942	PFAS-212	396	-	ENSP00000487260	131 (aa)	-	J3QSG0
ENST00000580251	PFAS-204	559	-	-	- (aa)	-	-
ENST00000578979	PFAS-203	765	-	ENSP00000463103	62 (aa)	-	J3KTQ5
ENST00000581288	PFAS-207	527	-	-	- (aa)	-	-
ENST00000585183	PFAS-210	581	-	ENSP00000463362	87 (aa)	-	J3QL39
ENST00000585319	PFAS-211	598	-	-	- (aa)	-	-
ENST00000583059	PFAS-208	349	-	ENSP00000462874	116 (aa)	-	J3KT98
ENST00000580356	PFAS-205	4242	-	ENSP00000464671	131 (aa)	-	J3QSG0
ENST00000581242	PFAS-206	553	-	ENSP00000463045	103 (aa)	-	J3KTL4
ENST00000314666	PFAS-201	5371	XM_006721546	ENSP00000313490	1338 (aa)	XP_006721609	O15067

Gene Model

Pathways

Pathway ID	Pathway Name	Source
hsa00230	Purine metabolism	KEGG
hsa01100	Metabolic pathways	KEGG

Phenotypes

ensgID	Trait	pValue	Pubmed ID
ENSG00000178921	Cholesterol, LDL	1E-8	26780889

GWAS

ensgID	SNP	Chromosome	Position	SNP-risk	Trait	PubmedID	95% CI	Or or BEAT	EFO ID
ENSG00000178921	rs4791641	17	8257831	T	Red blood cell count	27863252	[0.016-0.03] unit decrease	0.02332721	EFO_0004305
ENSG00000178921	rs4791641	17	8257831	C	LDL cholesterol	26780889	[0.013-0.029] unit increase	0.021	EFO_0004611
ENSG00000178921	rs56309584	17	8261034	C	Initial pursuit acceleration	29064472			EFO_0008434
ENSG00000178921	rs78296773	17	8264644	G	Self-reported math ability	30038396	[0.013-0.022] unit decrease	0.0179	EFO_0004875
ENSG00000178921	rs78296773	17	8264644	T	Self-reported math ability (MTAG)	30038396	[0.013-0.021] unit increase	0.0167	EFO_0004875
ENSG00000178921	rs4791641	17	8257831	T	Hematocrit	27863252	[0.023-0.036] unit decrease	0.02955392	EFO_0004348
ENSG00000178921	rs4791641	17	8257831	T	Hemoglobin concentration	27863252	[0.016-0.03] unit decrease	0.02285043	EFO_0004509
ENSG00000178921	rs10468482	17	8259502	C	Mean corpuscular hemoglobin concentration	27863252	[0.017-0.034] unit increase	0.0253879	EFO_0004528
ENSG00000178921	rs4791641	17	8257831	T	LDL cholesterol levels	28334899	[0.013-0.027] unit decrease (EA Beta value)	0.0202	EFO_0004611
ENSG00000178921	rs9891699	17	8253992	?	Red blood cell count	30595370			EFO_0004305

Protein-Protein Interaction (PPI)

* RBP PPI network refers to all genes directly bind to RBP

Orthologs identified by RBPome

Ensembl ID	Gene Symbol	Coverage	Identiy	Ortholog	Gene Symbol	Coverage	Identiy	Species
ENSG00000178921	PFAS	84	62.887	WBGene00008654	F10F2.2	99	46.520	Caenorhabditis_elegans
ENSG00000178921	PFAS	94	35.464	YGR061C		93	35.464	Saccharomyces_cerevisiae

Gene Ontology

Go ID	Go_term	PubmedID	Evidence	Category
GO:0004642	phosphoribosylformylglycinamidine synthase activity	10548741.	IDA	Function
GO:0004642	phosphoribosylformylglycinamidine synthase activity	-	TAS	Function
GO:0005524	ATP binding	-	IEA	Function
GO:0005737	cytoplasm	21873635.	IBA	Component
GO:0005829	cytosol	-	TAS	Component
GO:0006189	'de novo' IMP biosynthetic process	-	IEA	Process
GO:0006189	'de novo' IMP biosynthetic process	10548741.	NAS	Process
GO:0006541	glutamine metabolic process	-	IEA	Process
GO:0009168	purine ribonucleoside monophosphate biosynthetic process	-	TAS	Process
GO:0042493	response to drug	-	IEA	Process
GO:0046872	metal ion binding	-	IEA	Function
GO:0070062	extracellular exosome	20458337.	HDA	Component
GO:0097065	anterior head development	-	IEA	Process