EuRBPDB

Description

RBPome

Literatures

Expression

Transcripts

Gene Model

Pathways

Phenotypes

GWAS

PPI

Orthologs

Gene Ontology

Description

Ensembl ID: ENSG00000073969 (Gene tree)
Gene ID: 4905
Gene Symbol: NSF
Alias: SKD2|SEC18
Full Name: N-ethylmaleimide sensitive factor, vesicle fusing ATPase
Gene Type: protein_coding
Species: Homo_sapiens
Status: confidence
Strand: Plus strand
Length: 166,796 bases
Position: chr17:46,590,669-46,757,464
Accession: 8016
RBP type: non-canonical RBP
Summary: (N-Ethylmaleimide Sensitive Factor, Vesicle Fusing ATPase) is a Protein Coding gene. Diseases associated with NSF include Tetanus and Neuronal Intranuclear Inclusion Disease. Among its related pathways are Transport to the Golgi and subsequent modification and Trafficking of AMPA receptors. Gene Ontology (GO) annotations related to this gene include protein kinase binding.

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
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
27453046	Comprehensive Identification of RNA-Binding Domains in Human Cells	RIC & Hela	2016 Aug 18	Castello A	DOI: 10.1016/j.molcel.2016.06.029

Literatures on RNA binding capacity

PID	Title	Article	Time	Author	Doi
20534470	Plasma membrane insertion of the AMPA receptor GluA2 subunit is regulated by NSF binding and Q/R editing of the ion pore.	Proc Natl Acad Sci U S A	2010 Jun 15	Araki Y	doi: 10.1073/pnas.1006584107

Expression

Transcripts

Transcript ID	Name	Length	RefSeq ID	Protein ID	Length	RefSeq ID	UniportKB ID
ENST00000576346	NSF-208	710	-	ENSP00000459646	136 (aa)	-	I3L2G1
ENST00000465370	NSF-202	580	-	ENSP00000467779	180 (aa)	-	K7EQD6
ENST00000571172	NSF-204	569	-	ENSP00000458184	161 (aa)	-	I3L0L3
ENST00000576040	NSF-207	364	-	ENSP00000460152	44 (aa)	-	I3L338
ENST00000575068	NSF-206	2667	-	ENSP00000458221	739 (aa)	-	I3L0N3
ENST00000398238	NSF-201	3983	-	ENSP00000381293	744 (aa)	-	P46459
ENST00000571864	NSF-205	548	-	ENSP00000461448	81 (aa)	-	I3L4Q9
ENST00000486366	NSF-203	447	-	-	- (aa)	-	-

Gene Model

Click here to download ENSG00000073969's gene model file

Pathways

Pathway ID	Pathway Name	Source
hsa04721	Synaptic vesicle cycle	KEGG
hsa04727	GABAergic synapse	KEGG
hsa04962	Vasopressin-regulated water reabsorption	KEGG

Phenotypes

ensgID	Trait	pValue	Pubmed ID
ENSG00000073969	Parkinson Disease	1.25E-7	19915575
ENSG00000073969	Parkinson Disease	1.05E-5	19915575
ENSG00000073969	Parkinson Disease	5.05E-8	19915575
ENSG00000073969	Lung Diseases, Interstitial	2.3252130E-007	-
ENSG00000073969	Ovarian Neoplasms	3E-8	23544013
ENSG00000073969	Ovarian Neoplasms	3E-8	23544013
ENSG00000073969	Ovarian Neoplasms	2E-13	25581431
ENSG00000073969	Parkinson Disease	1E-14	19915575
ENSG00000073969	Parkinson Disease	3E-7	21812969
ENSG00000073969	Smell	4E-6	26632684
ENSG00000073969	Smell	3E-6	26632684
ENSG00000073969	Parkinson Disease	1E-6	20711177

GWAS

ensgID	SNP	Chromosome	Position	SNP-risk	Trait	PubmedID	95% CI	Or or BEAT	EFO ID
ENSG00000073969	rs199443	17	46742199	T	Sense of smell	26632684	[0.01-0.05] ln(smell score+1) increase	0.03	GO_0007608
ENSG00000073969	rs199443	17	46742199	T	Sense of smell	26632684	[0.01-0.05] ln(smell score+1) increase	0.03	GO_0007608
ENSG00000073969	rs183211	17	46710944	A	Ovarian cancer in BRCA1 mutation carriers	23544013	[1.16-1.35]	1.25	EFO_0001075
ENSG00000073969	rs183211	17	46710944	?	Ovarian cancer in BRCA1 mutation carriers	23544013			EFO_0001075
ENSG00000073969	rs199533	17	46751565	C	Parkinson's disease	19915575	[NR]	1.28	EFO_0002508
ENSG00000073969	rs199441	17	46696417	A	Neuroticism	29255261	z score increase	9.219	EFO_0007660
ENSG00000073969	rs7224296	17	46722680	A	Intelligence (MTAG)	29326435	[0.013-0.025] unit increase	0.01891837	EFO_0004337
ENSG00000073969	rs199441	17	46696417	A	Experiencing mood swings	29500382	z score increase	8.63	EFO_0008475
ENSG00000073969	rs199443	17	46742199	T	Feeling fed-up	29500382	z score increase	7.26	EFO_0009588
ENSG00000073969	rs538628	17	46709947	C	Feeling nervous	29500382	z score increase	7.14	EFO_0009597
ENSG00000073969	rs1378358	17	46709946	T	Feeling worry	29500382	unit increase	5.619	EFO_0009589
ENSG00000073969	rs199441	17	46696417	A	Feeling hurt	29500382	z score increase	10.14	EFO_0009599
ENSG00000073969	rs183211	17	46710944	T	Parkinson's disease	21812969			EFO_0002508
ENSG00000073969	rs199533	17	46751565	C	Parkinson's disease	20711177	[1.19-1.52]	1.35	EFO_0002508
ENSG00000073969	rs183211	17	46710944	A	Epithelial ovarian cancer	25581431	[1.07-1.16]	1.11	Orphanet_398934
ENSG00000073969	rs199460	17	46687409	?	General cognitive ability	29844566	z-score increase	5.447	EFO_0004337
ENSG00000073969	rs35937770	17	46730994	?	Reaction time	29844566	[0.011-0.018] unit decrease	0.014359	EFO_0008393
ENSG00000073969	rs17698176	17	46742229	T	Intelligence	29942086	z-score decrease	5.64	EFO_0004337
ENSG00000073969	rs1378358	17	46709946	T	Feeling miserable	29500382	z score increase	6.69	EFO_0009598
ENSG00000073969	rs1378358	17	46709946	T	Neurociticism	29500382	z score increase	10.86	EFO_0007660
ENSG00000073969	rs17698176	17	46742229	T	Neuroticism	29942085	z score increase	5.631	EFO_0007660
ENSG00000073969	rs17692129	17	46715917	T	Neuroticism	29942085	z score decrease	5.453	EFO_0007660
ENSG00000073969	rs199447	17	46734822	T	Neuroticism	29942085	z score increase	10.659	EFO_0007660
ENSG00000073969	rs9896243	17	46748690	G	Worry	29942085	[0.014-0.025] unit increase	0.01934	EFO_0005230
ENSG00000073969	rs538628	17	46709947	C	Male-pattern baldness	28196072	NR unit decrease	0.0800835	Orphanet_79364
ENSG00000073969	rs7224296	17	46722680	?	Balding type 1	30595370			EFO_0007825
ENSG00000073969	rs199441	17	46696417	A	Male-pattern baldness	30573740	[0.1-0.12] unit decrease	0.109361	EFO_0007825
ENSG00000073969	rs199456	17	46720553	?	Macular thickness	30535121	[0.7-1.02] unit decrease	0.86	EFO_0008375
ENSG00000073969	rs77819282	17	46685223	A	Thyroid stimulating hormone	30367059	[0.029-0.057] unit increase	0.043	EFO_0004748
ENSG00000073969	rs1378358	17	46709946	T	Neuroticism	30643256	[0.015-0.024] unit increase	0.019632332	EFO_0007660
ENSG00000073969	rs17692129	17	46715917	T	Smoking initiation (ever regular vs never regular)	30643251	[0.014-0.025] unit increase	0.019598922	EFO_0006527

Protein-Protein Interaction (PPI)

Clik here to download ENSG00000073969'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
ENSG00000073969	NSF	96	46.409	YBR080C	SEC18	94	46.409	Saccharomyces_cerevisiae

Gene Ontology

Go ID	Go_term	PubmedID	Evidence	Category
GO:0000139	Golgi membrane	-	IEA	Component
GO:0000149	SNARE binding	-	ISS	Function
GO:0001921	positive regulation of receptor recycling	15613468.	IDA	Process
GO:0005515	protein binding	15322554.16417406.16724110.20562859.	IPI	Function
GO:0005524	ATP binding	-	IEA	Function
GO:0005765	lysosomal membrane	17897319.	HDA	Component
GO:0005795	Golgi stack	21873635.	IBA	Component
GO:0005795	Golgi stack	-	ISS	Component
GO:0005829	cytosol	-	IDA	Component
GO:0005829	cytosol	-	TAS	Component
GO:0005886	plasma membrane	15613468.	IDA	Component
GO:0006813	potassium ion transport	-	IEA	Process
GO:0006886	intracellular protein transport	22045810.	IMP	Process
GO:0006887	exocytosis	15613468.	TAS	Process
GO:0006888	ER to Golgi vesicle-mediated transport	-	TAS	Process
GO:0006890	retrograde vesicle-mediated transport, Golgi to ER	-	TAS	Process
GO:0014069	postsynaptic density	-	ISS	Component
GO:0016192	vesicle-mediated transport	-	ISS	Process
GO:0016887	ATPase activity	21873635.	IBA	Function
GO:0016887	ATPase activity	-	ISS	Function
GO:0016887	ATPase activity	-	TAS	Function
GO:0017075	syntaxin-1 binding	-	ISS	Function
GO:0017137	Rab GTPase binding	-	ISS	Function
GO:0017157	regulation of exocytosis	-	ISS	Process
GO:0019901	protein kinase binding	-	ISS	Function
GO:0030165	PDZ domain binding	15613468.	IPI	Function
GO:0035255	ionotropic glutamate receptor binding	12130635.	IPI	Function
GO:0035494	SNARE complex disassembly	-	ISS	Process
GO:0042623	ATPase activity, coupled	-	IEA	Function
GO:0043001	Golgi to plasma membrane protein transport	21873635.	IBA	Process
GO:0043198	dendritic shaft	-	ISS	Component
GO:0044877	protein-containing complex binding	15613468.	IDA	Function
GO:0044877	protein-containing complex binding	-	ISS	Function
GO:0045026	plasma membrane fusion	15613468.	TAS	Process
GO:0045732	positive regulation of protein catabolic process	22045810.	IMP	Process
GO:0046872	metal ion binding	-	IEA	Function
GO:0048208	COPII vesicle coating	-	TAS	Process
GO:0048211	Golgi vesicle docking	21873635.	IBA	Process