EuRBPDB

Description

RBPome

Expression

Transcripts

Gene Model

Phenotypes

GWAS

PPI

Gene Ontology

Description

Ensembl ID: ENSG00000103335 (Gene tree)
Gene ID: 9780
Gene Symbol: PIEZO1
Alias: KIAA0233|FAM38A
Full Name: piezo type mechanosensitive ion channel component 1
Gene Type: protein_coding
Species: Homo_sapiens
Status: putative
Strand: Minus strand
Length: 69,883 bases
Position: chr16:88,715,338-88,785,220
Accession: 28993
RBP type: non-canonical RBP
Summary: The protein encoded by this gene is a mechanically-activated ion channel that links mechanical forces to biological signals. The encoded protein contains 36 transmembrane domains and functions as a homotetramer. Defects in this gene have been associated with dehydrated hereditary stomatocytosis. [provided by RefSeq, Jul 2015]

RNA binding proteome (RBPome)

PID	Title	Method	Time	Author	Doi
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

Expression

Transcripts

Transcript ID	Name	Length	RefSeq ID	Protein ID	Length	RefSeq ID	UniportKB ID
ENST00000474606	PIEZO1-206	544	-	ENSP00000428673	181 (aa)	-	H0YB49
ENST00000466823	PIEZO1-204	591	-	ENSP00000456373	184 (aa)	-	H3BRR7
ENST00000495568	PIEZO1-211	901	-	-	- (aa)	-	-
ENST00000484567	PIEZO1-208	2884	-	-	- (aa)	-	-
ENST00000419505	PIEZO1-203	1635	-	ENSP00000406358	88 (aa)	-	H7C2J5
ENST00000327397	PIEZO1-202	1246	-	ENSP00000333704	373 (aa)	-	E7EUT2
ENST00000497793	PIEZO1-212	1228	-	-	- (aa)	-	-
ENST00000472168	PIEZO1-205	663	-	-	- (aa)	-	-
ENST00000566414	PIEZO1-215	564	-	-	- (aa)	-	-
ENST00000490756	PIEZO1-209	446	-	-	- (aa)	-	-
ENST00000518793	PIEZO1-213	657	-	ENSP00000456680	35 (aa)	-	H3BSF6
ENST00000301015	PIEZO1-201	8089	-	ENSP00000301015	2521 (aa)	-	Q92508
ENST00000491917	PIEZO1-210	425	-	-	- (aa)	-	-
ENST00000475586	PIEZO1-207	560	-	-	- (aa)	-	-
ENST00000521877	PIEZO1-214	686	-	-	- (aa)	-	-

Gene Model

Click here to download ENSG00000103335's gene model file

Phenotypes

ensgID	Trait	pValue	Pubmed ID
ENSG00000103335	Arteries	7.7110000E-005	-
ENSG00000103335	Platelet Function Tests	2.2679500E-005	-
ENSG00000103335	Platelet Function Tests	2.6603300E-005	-
ENSG00000103335	Platelet Function Tests	2.0569740E-007	-
ENSG00000103335	Erythrocyte Indices	2E-9	28017375
ENSG00000103335	hemoglobin A1c protein, human	1E-8	24647736
ENSG00000103335	Erythrocyte Indices	2E-22	23222517
ENSG00000103335	Joint Instability	6E-12	27182965

GWAS

ensgID	SNP	Chromosome	Position	SNP-risk	Trait	PubmedID	95% CI	Or or BEAT	EFO ID
ENSG00000103335	rs61745086	16	88715642	A	Reticulocyte count	27863252	[0.084-0.155] unit increase	0.1197973	EFO_0007986
ENSG00000103335	rs562212325	16	88718246	C	Reticulocyte count	27863252	[0.31-0.49] unit increase	0.4030956	EFO_0007986
ENSG00000103335	rs4238686	16	88722526	G	Mean corpuscular volume	27863252	[0.014-0.028] unit decrease	0.0211683	EFO_0004526
ENSG00000103335	rs2608604	16	88783013	A	Mean corpuscular hemoglobin concentration	28017375	[0.0013-0.0025] unit increase	0.0019	EFO_0004528
ENSG00000103335	rs78579285	16	88746652	?	Joint mobility (Beighton score)	27182965	[0.133-0.074] unit decrease	0.104	EFO_0007905
ENSG00000103335	rs10445033	16	88774054	G	Red blood cell traits	23222517	[-0.00352-0.04352] unit increase	0.02	EFO_0004528
ENSG00000103335	rs9933309	16	88778524	C	Glycated hemoglobin levels	24647736	[0.050-0.090] unit increase	0.07	EFO_0004541
ENSG00000103335	rs567292015	16	88732112	A	Hemoglobin concentration	27863252	[0.097-0.195] unit increase	0.1462125	EFO_0004509
ENSG00000103335	rs61745086	16	88715642	A	Reticulocyte fraction of red cells	27863252	[0.071-0.142] unit increase	0.1064338	EFO_0007986
ENSG00000103335	rs111350029	16	88730363	GGGAGGC	Platelet count	27863252	[0.026-0.048] unit increase	0.03694235	EFO_0004309
ENSG00000103335	rs562212325	16	88718246	C	High light scatter reticulocyte count	27863252	[0.28-0.46] unit increase	0.3739617	EFO_0007986
ENSG00000103335	rs567292015	16	88732112	A	High light scatter reticulocyte count	27863252	[0.1-0.2] unit increase	0.1531636	EFO_0007986
ENSG00000103335	rs202099525	16	88721629	A	Mean corpuscular hemoglobin concentration	27863252	[0.27-0.51] unit decrease	0.3896876	EFO_0004528
ENSG00000103335	rs4238686	16	88722526	G	Mean corpuscular hemoglobin concentration	27863252	[0.032-0.046] unit increase	0.03875548	EFO_0004528
ENSG00000103335	rs4782347	16	88755300	G	Diverticular disease	30177863	[NR] unit increase	0.0024242	EFO_1001460
ENSG00000103335	rs11643303	16	88767606	?	Heel bone mineral density	30048462	[0.017-0.03] unit decrease	0.0238566	EFO_0009270
ENSG00000103335	rs4238686	16	88722526	A	Heel bone mineral density	30598549	[0.012-0.019] unit decrease	0.0155231	EFO_0009270
ENSG00000103335	rs11643303	16	88767606	A	Heel bone mineral density	30598549	[0.017-0.029] unit decrease	0.0229208	EFO_0009270
ENSG00000103335	rs2911463	16	88769137	A	Varicose veins	30566020	[0.14-0.21] unit decrease	0.174	HP_0002619
ENSG00000103335	rs8053350	16	88727995	A	Varicose veins	30566020	[0.1-0.16] unit decrease	0.132	HP_0002619
ENSG00000103335	rs6500493	16	88737574	?	Red cell distribution width	30595370			EFO_0005192
ENSG00000103335	rs78579285	16	88746652	?	Lung function (FVC)	30595370			EFO_0004312
ENSG00000103335	rs55924855	16	88731518	?	Hair color	30595370			EFO_0007822
ENSG00000103335	rs7186082	16	88717495	?	Aspartate aminotransferase levels in low alcohol consumption	30589442	[0.02-0.048] unit increase	0.0339	EFO_0004736\|EFO_0007878

Protein-Protein Interaction (PPI)

Clik here to download ENSG00000103335's network

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

Gene Ontology

Go ID	Go_term	PubmedID	Evidence	Category
GO:0005261	cation channel activity	21873635.	IBA	Function
GO:0005261	cation channel activity	-	ISS	Function
GO:0005783	endoplasmic reticulum	21873635.	IBA	Component
GO:0005783	endoplasmic reticulum	20016066.	IDA	Component
GO:0005789	endoplasmic reticulum membrane	-	IEA	Component
GO:0005886	plasma membrane	21873635.	IBA	Component
GO:0005886	plasma membrane	-	ISS	Component
GO:0006812	cation transport	-	ISS	Process
GO:0008381	mechanosensitive ion channel activity	21873635.	IBA	Function
GO:0016021	integral component of membrane	-	IEA	Component
GO:0031258	lamellipodium membrane	-	IEA	Component
GO:0033116	endoplasmic reticulum-Golgi intermediate compartment membrane	-	IEA	Component
GO:0033625	positive regulation of integrin activation	20016066.	IMP	Process
GO:0033634	positive regulation of cell-cell adhesion mediated by integrin	20016066.	IMP	Process
GO:0042391	regulation of membrane potential	21873635.	IBA	Process
GO:0050982	detection of mechanical stimulus	21873635.	IBA	Process
GO:0071260	cellular response to mechanical stimulus	21873635.	IBA	Process
GO:0098655	cation transmembrane transport	-	IEA	Process