EuRBPDB

Description

Ensembl ID: ENSG00000162517 (Gene tree)
Gene ID: 553115
Gene Symbol: PEF1
Alias: PEF1A
Full Name: penta-EF-hand domain containing 1
Gene Type: protein_coding
Species: Homo_sapiens
Status: putative
Strand: Minus strand
Length: 15,376 bases
Position: chr1:31,629,862-31,645,237
Accession: 30009
RBP type: non-canonical RBP
Summary: This gene encodes a calcium-binding protein belonging to the penta-EF-hand protein family. The encoded protein has been shown to form a heterodimer with the programmed cell death 6 gene product and may modulate its function in Ca(2+) signaling. Alternative splicing results in multiple transcript variants and a pseudogene has been identified on chromosome 1.[provided by RefSeq, May 2010]

RNA binding proteome (RBPome)

PID	Title	Method	Time	Author	Doi
22681889	The mRNA-bound proteome and its global occupancy profile on protein-coding transcripts	4SURIC & HEK293	2012 May	Baltz AG	DOI: 10.1016/j.molcel.2012.05.021
30528433	The Human RNA-Binding Proteome and Its Dynamics during Translational Arrest	XRNAX & HEK293	2018 Dec 6	Trendel J	DOI: 10.1016/j.cell.2018.11.004
30528433	The Human RNA-Binding Proteome and Its Dynamics during Translational Arrest	XRNAX & Hela	2018 Dec 6	Trendel J	DOI: 10.1016/j.cell.2018.11.004

Expression

Transcripts

Transcript ID	Name	Length	RefSeq ID	Protein ID	Length	RefSeq ID	UniportKB ID
ENST00000492061	PEF1-207	936	-	-	- (aa)	-	-
ENST00000373703	PEF1-201	1629	XM_011541745	ENSP00000362807	284 (aa)	XP_011540047	Q9UBV8
ENST00000471219	PEF1-203	401	-	-	- (aa)	-	-
ENST00000472443	PEF1-204	687	-	-	- (aa)	-	-
ENST00000489164	PEF1-206	865	-	-	- (aa)	-	-
ENST00000496805	PEF1-208	742	-	-	- (aa)	-	-
ENST00000461006	PEF1-202	732	-	-	- (aa)	-	-
ENST00000478502	PEF1-205	750	-	-	- (aa)	-	-

Gene Model

GWAS

ensgID	SNP	Chromosome	Position	SNP-risk	Trait	PubmedID	95% CI	Or or BEAT	EFO ID
ENSG00000162517	rs10798880	1	31631487	?	Cognitive ability	29186694	z score increase	5.457	EFO_0004337
ENSG00000162517	rs10798882	1	31642946	?	Cognitive ability	29186694	z score decrease	5.535	EFO_0004337
ENSG00000162517	rs10798880	1	31631487	?	Cognitive ability (MTAG)	29186694	z score increase	6.143	EFO_0004337\|EFO_0004784
ENSG00000162517	rs4949454	1	31633440	A	Intelligence (MTAG)	29326435	[0.016-0.027] unit increase	0.021438975	EFO_0004337
ENSG00000162517	rs7546297	1	31640893	A	Cognitive performance	30038396	[0.016-0.027] unit decrease	0.0214	EFO_0008354
ENSG00000162517	rs10798880	1	31631487	T	Cognitive performance (MTAG)	30038396	[0.012-0.022] unit increase	0.017	EFO_0008354
ENSG00000162517	rs10798879	1	31631214	T	General cognitive ability	29844566	z-score decrease	7.797	EFO_0004337
ENSG00000162517	rs7546297	1	31640893	A	Intelligence	29942086	z-score decrease	7.091	EFO_0004337

Protein-Protein Interaction (PPI)

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

Gene Ontology

Go ID	Go_term	PubmedID	Evidence	Category
GO:0000139	Golgi membrane	-	IEA	Component
GO:0003723	RNA binding	22681889.	HDA	Function
GO:0005509	calcium ion binding	-	IEA	Function
GO:0005515	protein binding	16189514.19060904.21988832.25416956.	IPI	Function
GO:0005737	cytoplasm	11278427.	IDA	Component
GO:0005783	endoplasmic reticulum	-	IEA	Component
GO:0006888	ER to Golgi vesicle-mediated transport	27716508.	IMP	Process
GO:0014029	neural crest formation	27716508.	IMP	Process
GO:0014032	neural crest cell development	27716508.	IMP	Process
GO:0030127	COPII vesicle coat	27716508.	IDA	Component
GO:0031463	Cul3-RING ubiquitin ligase complex	27716508.	IDA	Component
GO:0046982	protein heterodimerization activity	11278427.	IPI	Function
GO:0046983	protein dimerization activity	11883899.	IPI	Function
GO:0048208	COPII vesicle coating	27716508.	IMP	Process
GO:0048306	calcium-dependent protein binding	27716508.	IPI	Function
GO:0051592	response to calcium ion	11278427.	IPI	Process
GO:0060090	molecular adaptor activity	27716508.	IMP	Function
GO:0070062	extracellular exosome	19056867.20458337.23533145.	HDA	Component
GO:1902527	positive regulation of protein monoubiquitination	27716508.	IMP	Process