EuRBPDB

Description

RBPome

Expression

Transcripts

Gene Model

Phenotypes

GWAS

PPI

Orthologs

Gene Ontology

Description

Ensembl ID: ENSG00000134283 (Gene tree)
Gene ID: 51535
Gene Symbol: PPHLN1
Alias: N
Full Name: periphilin 1
Gene Type: protein_coding
Species: Homo_sapiens
Status: putative
Strand: Plus strand
Length: 221,269 bases
Position: chr12:42,238,447-42,459,715
Accession: 19369
RBP type: non-canonical RBP
Summary: The protein encoded by this gene is one of the several proteins that become sequentially incorporated into the cornified cell envelope during the terminal differentiation of keratinocyte at the outer layers of epidermis. This protein interacts with periplakin, which is known as a precursor of the cornified cell envelope. The cellular localization pattern and insolubility of this protein suggest that it may play a role in epithelial differentiation and contribute to epidermal integrity and barrier formation. Multiple alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2008]

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
22658674	Insights into RNA biology from an atlas of mammalian mRNA-binding proteins	RIC & Hela	2012 May 31	Castello A	DOI: 10.1016/j.cell.2012.04.031
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
30528433	The Human RNA-Binding Proteome and Its Dynamics during Translational Arrest	XRNAX & MCF7	2018 Dec 6	Trendel J	DOI: 10.1016/j.cell.2018.11.004
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
ENST00000395580	PPHLN1-206	1693	XM_017019452	ENSP00000378947	374 (aa)	-	Q8NEY8
ENST00000546750	PPHLN1-209	588	-	ENSP00000450274	161 (aa)	-	F8VPY7
ENST00000337898	PPHLN1-203	1465	-	ENSP00000338510	340 (aa)	-	B7Z8L1
ENST00000547847	PPHLN1-212	576	-	ENSP00000449772	168 (aa)	-	F8VWU8
ENST00000551723	PPHLN1-218	415	-	ENSP00000450346	52 (aa)	-	F8VP48
ENST00000395568	PPHLN1-205	2170	XM_011538465	ENSP00000378935	458 (aa)	XP_016874926	Q8NEY8
ENST00000551406	PPHLN1-216	648	-	-	- (aa)	-	-
ENST00000613154	PPHLN1-224	1863	-	ENSP00000478872	348 (aa)	-	Q8NEY8
ENST00000432191	PPHLN1-207	3377	XM_005268962	ENSP00000393965	434 (aa)	XP_016874934	Q8NEY8
ENST00000610488	PPHLN1-223	1521	XM_011538459	ENSP00000479913	458 (aa)	XP_011536761	Q8NEY8
ENST00000547696	PPHLN1-211	680	-	-	- (aa)	-	-
ENST00000550535	PPHLN1-215	770	-	-	- (aa)	-	-
ENST00000552761	PPHLN1-221	1095	XM_017019453	ENSP00000449331	319 (aa)	-	Q8NEY8
ENST00000552794	PPHLN1-222	579	-	-	- (aa)	-	-
ENST00000547440	PPHLN1-210	1898	-	-	- (aa)	-	-
ENST00000549774	PPHLN1-214	847	-	-	- (aa)	-	-
ENST00000256678	PPHLN1-201	1820	-	ENSP00000256678	363 (aa)	-	F8W6A0
ENST00000317560	PPHLN1-202	1359	XM_017019447	ENSP00000322048	303 (aa)	XP_016874936	F8WF16
ENST00000358314	PPHLN1-204	1643	-	ENSP00000351066	367 (aa)	-	Q8NEY8
ENST00000549190	PPHLN1-213	1777	-	ENSP00000447168	385 (aa)	-	F8W0Q9
ENST00000619544	PPHLN1-225	1449	XM_011538467	ENSP00000477681	434 (aa)	XP_016874933	Q8NEY8
ENST00000551658	PPHLN1-217	176	-	ENSP00000449031	37 (aa)	-	F8VXV7
ENST00000552429	PPHLN1-220	560	-	ENSP00000448645	107 (aa)	-	F8VRK2
ENST00000449194	PPHLN1-208	1583	-	ENSP00000390681	348 (aa)	-	Q8NEY8
ENST00000624028	PPHLN1-226	5975	-	-	- (aa)	-	-
ENST00000552202	PPHLN1-219	1290	-	-	- (aa)	-	-

Gene Model

Click here to download ENSG00000134283's gene model file

Phenotypes

ensgID	Trait	pValue	Pubmed ID
ENSG00000134283	Respiratory Function Tests	6.5518372809006E-5	17903307
ENSG00000134283	Electrocardiography	5E-6	24324551
ENSG00000134283	Trypanosoma cruzi	5E-6	24324551

GWAS

ensgID	SNP	Chromosome	Position	SNP-risk	Trait	PubmedID	95% CI	Or or BEAT	EFO ID
ENSG00000134283	rs116975820	12	42329106	?	PR interval in Tripanosoma cruzi seropositivity	24324551			EFO_0004462\|EFO_0005530
ENSG00000134283	rs12826942	12	42402498	A	Coronary artery disease	29212778	[0.02-0.049] unit decrease	0.0347	EFO_0000378

Protein-Protein Interaction (PPI)

Clik here to download ENSG00000134283's network

* 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
ENSG00000134283	PPHLN1	98	83.974	ENSMUSG00000036167	Pphln1	100	83.974	Mus_musculus

Gene Ontology

Go ID	Go_term	PubmedID	Evidence	Category
GO:0003723	RNA binding	22658674.22681889.	HDA	Function
GO:0005515	protein binding	25416956.	IPI	Function
GO:0005654	nucleoplasm	-	IDA	Component
GO:0005694	chromosome	-	IEA	Component
GO:0005794	Golgi apparatus	-	IDA	Component
GO:0005829	cytosol	-	IDA	Component
GO:0031424	keratinization	-	IEA	Process
GO:0045814	negative regulation of gene expression, epigenetic	26022416.28581500.	IDA	Process
GO:0045892	negative regulation of transcription, DNA-templated	-	IEA	Process
GO:0090309	positive regulation of methylation-dependent chromatin silencing	28581500.	IDA	Process
GO:0097355	protein localization to heterochromatin	28581500.	IDA	Process