EuRBPDB

Basic Information
Cancer Related Information

Description

RBPome

Expression

Transcripts

Gene Model

Pathways

GWAS

PPI

Orthologs

Gene Ontology

Description

Ensembl ID: ENSG00000023228 (Gene tree)
Gene ID: 4719
Gene Symbol: NDUFS1
Alias: CI-75k
Full Name: NADH:ubiquinone oxidoreductase core subunit S1
Gene Type: protein_coding
Species: Homo_sapiens
Status: putative
Strand: Minus strand
Length: 44,787 bases
Position: chr2:206,114,817-206,159,603
Accession: 7707
RBP type: non-canonical RBP
Summary: The protein encoded by this gene belongs to the complex I 75 kDa subunit family. Mammalian complex I is composed of 45 different subunits. It locates at the mitochondrial inner membrane. This protein has NADH dehydrogenase activity and oxidoreductase activity. It transfers electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone. This protein is the largest subunit of complex I and it is a component of the iron-sulfur (IP) fragment of the enzyme. It may form part of the active site crevice where NADH is oxidized. Mutations in this gene are associated with complex I deficiency. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2011]

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 & MCF10A	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
ENST00000449699	NDUFS1-205	2371	-	ENSP00000399912	727 (aa)	-	P28331
ENST00000454195	NDUFS1-206	569	-	ENSP00000389413	130 (aa)	-	C9JPQ5
ENST00000440274	NDUFS1-204	2394	-	ENSP00000409766	691 (aa)	-	P28331
ENST00000457011	NDUFS1-209	2171	XM_017004188	ENSP00000400976	611 (aa)	XP_016859677	B4DJ81
ENST00000455934	NDUFS1-207	3361	-	ENSP00000392709	741 (aa)	-	P28331
ENST00000233190	NDUFS1-201	11819	-	ENSP00000233190	727 (aa)	-	P28331
ENST00000456284	NDUFS1-208	563	-	ENSP00000395553	91 (aa)	-	F8WDL5
ENST00000423725	NDUFS1-202	2631	-	ENSP00000397760	670 (aa)	-	P28331
ENST00000432169	NDUFS1-203	2080	-	ENSP00000409689	616 (aa)	-	P28331
ENST00000498520	NDUFS1-210	593	-	-	- (aa)	-	-

Gene Model

Click here to download ENSG00000023228's gene model file

Pathways

Pathway ID	Pathway Name	Source
hsa00190	Oxidative phosphorylation	KEGG
hsa01100	Metabolic pathways	KEGG
hsa04714	Thermogenesis	KEGG
hsa04723	Retrograde endocannabinoid signaling	KEGG
hsa04932	Non-alcoholic fatty liver disease (NAFLD)	KEGG
hsa05010	Alzheimer disease	KEGG
hsa05012	Parkinson disease	KEGG
hsa05016	Huntington disease	KEGG

GWAS

ensgID	SNP	Chromosome	Position	SNP-risk	Trait	PubmedID	95% CI	Or or BEAT	EFO ID
ENSG00000023228	rs6435326	2	206137835	A	Educational attainment (MTAG)	30038396	[0.006-0.011] unit decrease	0.0085	EFO_0004784
ENSG00000023228	rs13393316	2	206134615	A	Frontotemporal dementia with GRN mutation	29724592	[1.47-2.44]	1.8867927	Orphanet_282
ENSG00000023228	rs6435326	2	206137835	A	Educational attainment (years of education)	30038396	[0.0064-0.0118] unit decrease	0.0091	EFO_0004784
ENSG00000023228	rs6435326	2	206137835	?	Educational attainment (years of education)	30595370			EFO_0004784

Protein-Protein Interaction (PPI)

Clik here to download ENSG00000023228'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
ENSG00000023228	NDUFS1	100	94.627	ENSMUSG00000025968	Ndufs1	100	94.085	Mus_musculus

Gene Ontology

Go ID	Go_term	PubmedID	Evidence	Category
GO:0003954	NADH dehydrogenase activity	21873635.	IBA	Function
GO:0005515	protein binding	15186778.	IPI	Function
GO:0005739	mitochondrion	-	IDA	Component
GO:0005747	mitochondrial respiratory chain complex I	21873635.	IBA	Component
GO:0005747	mitochondrial respiratory chain complex I	12611891.	IDA	Component
GO:0005747	mitochondrial respiratory chain complex I	16478720.	IMP	Component
GO:0005747	mitochondrial respiratory chain complex I	9878551.	NAS	Component
GO:0005758	mitochondrial intermembrane space	15186778.	IDA	Component
GO:0005759	mitochondrial matrix	-	TAS	Component
GO:0006120	mitochondrial electron transport, NADH to ubiquinone	9878551.	NAS	Process
GO:0006120	mitochondrial electron transport, NADH to ubiquinone	-	TAS	Process
GO:0008137	NADH dehydrogenase (ubiquinone) activity	21873635.	IBA	Function
GO:0008137	NADH dehydrogenase (ubiquinone) activity	15824269.16478720.16870178.	IMP	Function
GO:0008137	NADH dehydrogenase (ubiquinone) activity	9878551.	NAS	Function
GO:0008637	apoptotic mitochondrial changes	15186778.	IDA	Process
GO:0009055	electron transfer activity	1935949.	NAS	Function
GO:0032981	mitochondrial respiratory chain complex I assembly	-	TAS	Process
GO:0045272	plasma membrane respiratory chain complex I	21873635.	IBA	Component
GO:0045333	cellular respiration	21873635.	IBA	Process
GO:0045333	cellular respiration	15186778.16478720.	IMP	Process
GO:0046034	ATP metabolic process	15186778.	IMP	Process
GO:0046872	metal ion binding	-	IEA	Function
GO:0051537	2 iron, 2 sulfur cluster binding	-	IEA	Function
GO:0051539	4 iron, 4 sulfur cluster binding	21873635.	IBA	Function
GO:0051881	regulation of mitochondrial membrane potential	15186778.16478720.	IMP	Process
GO:0072593	reactive oxygen species metabolic process	15186778.16478720.16870178.	IMP	Process

Cancer associated literatures

PID	Title	Article	Time	Author	Doi
26987334	The Effect on Cognition of Mitochondrial Respiratory System Proteins in Peripheral Blood Mononuclear Cells in the Course of Lung Cancer.	Adv Exp Med Biol	2016	Michalak S	doi: 10.1007/5584_2016_221.

Differential Expression

Expression in 33 cancers

Mutations

Cancer	Chr	Position	Mutation Type	dbSNP	Protein-change	Allele Freq
BLCA	chr2	206141975	Missense_Mutation	novel	E410Q	0.4
BLCA	chr2	206145007	Missense_Mutation	rs746289681	V253I	0.15
BLCA	chr2	206116063	3'UTR	novel		0.18
BLCA	chr2	206124226	Missense_Mutation	novel	T715A	0.67
BLCA	chr2	206116200	3'UTR	novel		0.19
BLCA	chr2	206144994	Missense_Mutation	NA	V257G	0.21
BRCA	chr2	206116155	3'UTR	novel		0.32
BRCA	chr2	206116379	3'UTR	NA		0.46
BRCA	chr2	206147608	Silent	novel	R158R	0.04
BRCA	chr2	206116082	3'UTR	novel		0.47
BRCA	chr2	206115991	3'UTR	NA		0.42
CESC	chr2	206127871	Nonsense_Mutation	novel	Q604*	0.4
CESC	chr2	206152422	Silent	novel	L50L	0.45
CESC	chr2	206124223	Missense_Mutation	novel	E716Q	0.37
CESC	chr2	206149848	Missense_Mutation	rs773054809	M77I	0.37
CESC	chr2	206152475	Missense_Mutation	NA	E33K	0.11
CESC	chr2	206116002	3'UTR	NA		0.43
COAD	chr2	206130127	Nonsense_Mutation	rs372691318	R557*	0.27
COAD	chr2	206132944	Splice_Site	NA	X518_splice	0.2
COAD	chr2	206124154	3'UTR	novel		0.14
COAD	chr2	206144982	Missense_Mutation	novel	I261S	0.26
COAD	chr2	206116272	3'UTR	novel		0.12
COAD	chr2	206116432	3'UTR	novel		0.38
COAD	chr2	206153645	Missense_Mutation	NA	G12C	0.45
COAD	chr2	206142724	Frame_Shift_Del	NA	*S363Ffs4**	0.21
COAD	chr2	206115991	3'UTR	NA		0.3
COAD	chr2	206144956	Missense_Mutation	novel	V270M	0.26
COAD	chr2	206116000	3'UTR	novel		0.23
COAD	chr2	206116042	3'UTR	novel		0.44
COAD	chr2	206124092	3'UTR	novel		0.29
COAD	chr2	206124092	3'UTR	novel		0.54
COAD	chr2	206146997	Missense_Mutation	novel	M215V	0.05
COAD	chr2	206115991	3'UTR	NA		0.16
COAD	chr2	206116481	3'UTR	novel		0.27
COAD	chr2	206115991	3'UTR	NA		0.25
COAD	chr2	206132997	Missense_Mutation	rs373870579	R501W	0.16
COAD	chr2	206149892	Missense_Mutation	NA	F63V	0.19
COAD	chr2	206126766	Nonsense_Mutation	rs762369653	R655*	0.26
COAD	chr2	206124257	Silent	novel	S704S	0.23
COAD	chr2	206144997	Missense_Mutation	rs773373927	A256V	0.11
COAD	chr2	206124092	3'UTR	novel		0.37
COAD	chr2	206138531	Missense_Mutation	rs781249832	P449L	0.29
COAD	chr2	206115991	3'UTR	NA		0.4
COAD	chr2	206142726	Missense_Mutation	NA	T365P	0.19
DLBC	chr2	206152507	Missense_Mutation	rs767457281	R22Q	0.4
ESCA	chr2	206115991	3'UTR	NA		0.18
ESCA	chr2	206115991	3'UTR	NA		0.22
GBM	chr2	206116131	3'UTR	novel		0.22
HNSC	chr2	206124199	Missense_Mutation	novel	P724S	0.25
KICH	chr2	206144109	Missense_Mutation	novel	R299P	0.55
KIRC	chr2	206133050	Missense_Mutation	NA	R483I	0.29
KIRC	chr2	206149826	Frame_Shift_Ins	novel	*A85Sfs3**	0.24
KIRC	chr2	206144986	In_Frame_Del	novel	S259del	0.17
LAML	chr2	206152457	Nonsense_Mutation	novel	Q39*	0.07
LGG	chr2	206144894	Splice_Region	rs773850118	T290T	0.22
LGG	chr2	206126757	Missense_Mutation	NA	D658H	0.09
LGG	chr2	206141966	Silent	novel	L413L	0.34
LGG	chr2	206152468	Missense_Mutation	novel	F35Y	0.08
LIHC	chr2	206126795	Missense_Mutation	novel	R645I	0.38
LIHC	chr2	206130099	Missense_Mutation	novel	I566S	0.43
LUAD	chr2	206116197	3'UTR	NA		0.19
LUAD	chr2	206130242	Splice_Region	NA	R518R	0.28
LUAD	chr2	206144017	Splice_Site	novel	X329_splice	0.13
LUAD	chr2	206144018	Missense_Mutation	novel	M329I	0.14
LUAD	chr2	206152472	Missense_Mutation	novel	V34L	0.04
LUAD	chr2	206138590	Silent	novel	V429V	0.11
LUAD	chr2	206133081	Missense_Mutation	NA	M473L	0.4
LUAD	chr2	206130154	Silent	NA	L548L	0.1
LUAD	chr2	206147540	Missense_Mutation	NA	R181P	0.28
LUAD	chr2	206147794	Missense_Mutation	novel	D127N	0.27
LUAD	chr2	206116139	3'UTR	novel		0.07
LUAD	chr2	206127855	Missense_Mutation	NA	A609E	0.09
LUAD	chr2	206147054	Missense_Mutation	novel	G196R	0.14
LUAD	chr2	206127871	Nonsense_Mutation	novel	Q604*	0.3
LUSC	chr2	206130155	Silent	rs201400549	L547L	0.44
LUSC	chr2	206144046	Missense_Mutation	NA	E320V	0.51
LUSC	chr2	206146910	Missense_Mutation	NA	E244K	0.14
LUSC	chr2	206124143	3'UTR	novel		0.38
LUSC	chr2	206124188	Missense_Mutation	NA	C727W	0.36
LUSC	chr2	206138526	Missense_Mutation	novel	I451L	0.04
LUSC	chr2	206127810	Missense_Mutation	novel	R624T	0.12
LUSC	chr2	206149843	Frame_Shift_Del	novel	*V71Cfs2**	0.15
LUSC	chr2	206138532	Missense_Mutation	rs745926990	P449S	0.26
LUSC	chr2	206116216	3'UTR	novel		0.16
LUSC	chr2	206142006	Silent	novel	V399V	0.2
LUSC	chr2	206144015	Splice_Region	novel		0.54
LUSC	chr2	206124277	Splice_Site	novel	X698_splice	0.38
LUSC	chr2	206152439	Missense_Mutation	rs746500004	P45A	0.17
LUSC	chr2	206142724	Silent	novel	T365T	0.3
OV	chr2	206127905	Missense_Mutation	novel	K592N	0.07
OV	chr2	206138564	Missense_Mutation	NA	L438R	0.26
PAAD	chr2	206147778	Missense_Mutation	novel	D132G	0.28
READ	chr2	206116123	3'UTR	novel		0.03
READ	chr2	206126782	Silent	novel	V649V	0.38
SARC	chr2	206142814	Silent	novel	G335G	0.08
SKCM	chr2	206116268	3'UTR	rs540243289		0.46
SKCM	chr2	206149924	Missense_Mutation	novel	A52V	0.28
SKCM	chr2	206130151	Missense_Mutation	novel	G549R	0.42
SKCM	chr2	206138496	Missense_Mutation	novel	P461S	0.35
SKCM	chr2	206144917	Missense_Mutation	NA	E283K	0.29
SKCM	chr2	206153684	Splice_Site	novel		0.52
SKCM	chr2	206116222	3'UTR	NA		0.35
STAD	chr2	206144996	Silent	rs148726142	A256A	0.18
STAD	chr2	206115991	3'UTR	NA		0.24
STAD	chr2	206115991	3'UTR	NA		0.46
STAD	chr2	206149890	Missense_Mutation	NA	F63L	0.07
STAD	chr2	206138533	Silent	novel	S448S	0.09
STAD	chr2	206142704	Missense_Mutation	novel	F372S	0.48
STAD	chr2	206146951	Missense_Mutation	NA	A230V	0.12
STAD	chr2	206144048	Missense_Mutation	NA	W319C	0.2
STAD	chr2	206153634	In_Frame_Del	novel	A9_K15del	0.17
STAD	chr2	206126785	Missense_Mutation	NA	E648D	0.36
STAD	chr2	206142059	Missense_Mutation	NA	R382C	0.09
STAD	chr2	206115991	3'UTR	NA		0.45
THCA	chr2	206146933	Missense_Mutation	NA	Y236C	0.11
UCEC	chr2	206142058	Missense_Mutation	rs761692097	R382H	0.08
UCEC	chr2	206142753	Missense_Mutation	NA	D356Y	0.32
UCEC	chr2	206124149	3'UTR	novel		0.39
UCEC	chr2	206115991	3'UTR	NA		0.5
UCEC	chr2	206130184	Missense_Mutation	rs138887128	R538W	0.4
UCEC	chr2	206138507	Missense_Mutation	rs201246304	S457L	0.34
UCEC	chr2	206147566	Silent	NA	I172I	0.35
UCEC	chr2	206115991	3'UTR	NA		0.2
UCEC	chr2	206124092	3'UTR	novel		0.38
UCEC	chr2	206130118	Missense_Mutation	NA	L560M	0.37
UCEC	chr2	206146944	Silent	novel	T232T	0.34
UCEC	chr2	206116175	3'UTR	novel		0.28
UCEC	chr2	206124191	Missense_Mutation	rs754913375	I726M	0.18
UCEC	chr2	206124106	3'UTR	novel		0.31
UCEC	chr2	206116333	3'UTR	novel		0.06
UCEC	chr2	206115991	3'UTR	NA		0.47
UCEC	chr2	206116263	3'UTR	novel		0.14
UCEC	chr2	206124118	3'UTR	novel		0.3
UCEC	chr2	206126766	Nonsense_Mutation	rs762369653	R655*	0.24
UCEC	chr2	206116323	3'UTR	novel		0.33
UCEC	chr2	206133029	Missense_Mutation	novel	L490R	0.2
UCEC	chr2	206124023	3'UTR	novel		0.38
UCEC	chr2	206115896	3'UTR	novel		0.43
UCEC	chr2	206115987	3'UTR	novel		0.49
UCEC	chr2	206116232	3'UTR	novel		0.48
UCEC	chr2	206141948	Nonsense_Mutation	rs186057450	R419*	0.43
UCEC	chr2	206147751	Splice_Site	NA	X140_splice	0.44
UCEC	chr2	206126766	Nonsense_Mutation	rs762369653	R655*	0.33
UCEC	chr2	206115991	3'UTR	NA		0.24
UCEC	chr2	206132997	Missense_Mutation	rs373870579	R501W	0.41
UCEC	chr2	206152507	Missense_Mutation	rs767457281	R22Q	0.12
UCEC	chr2	206142734	Missense_Mutation	novel	D362G	0.34
UCEC	chr2	206152508	Nonsense_Mutation	rs750971390	R22*	0.32
UCEC	chr2	206153668	Missense_Mutation	novel	I4K	0.43
UCEC	chr2	206115991	3'UTR	NA		0.33
UCEC	chr2	206144077	Nonsense_Mutation	novel	E310*	0.37
UCEC	chr2	206124035	3'UTR	novel		0.25
UCEC	chr2	206133023	Missense_Mutation	novel	A492D	0.5
UCEC	chr2	206115991	3'UTR	NA		0.57
UCEC	chr2	206124092	3'UTR	novel		0.23
UCEC	chr2	206115991	3'UTR	NA		0.16
UCEC	chr2	206126766	Nonsense_Mutation	rs762369653	R655*	0.34
UCEC	chr2	206144920	Missense_Mutation	novel	N282D	0.29
UCEC	chr2	206124092	3'UTR	novel		0.32
UCEC	chr2	206133085	Frame_Shift_Del	novel	*K471Nfs6**	0.35
UCEC	chr2	206142054	Frame_Shift_Ins	novel	*N384Kfs10**	0.06
UCEC	chr2	206115991	3'UTR	NA		0.41
UCEC	chr2	206142070	Splice_Site	NA	X378_splice	0.34
UCEC	chr2	206130216	Missense_Mutation	novel	D527G	0.23
UCEC	chr2	206124110	3'UTR	novel		0.54
UCEC	chr2	206115991	3'UTR	NA		0.53
UCEC	chr2	206126766	Nonsense_Mutation	rs762369653	R655*	0.62
UCEC	chr2	206149840	Missense_Mutation	NA	V80A	0.43
UCEC	chr2	206116159	3'UTR	novel		0.08
UCEC	chr2	206132997	Missense_Mutation	rs373870579	R501W	0.22
UCEC	chr2	206124092	3'UTR	novel		0.48
UCEC	chr2	206115991	3'UTR	NA		0.39
UCEC	chr2	206115991	3'UTR	NA		0.31
UCEC	chr2	206115850	3'UTR	novel		0.5
UCEC	chr2	206142002	Missense_Mutation	novel	L401I	0.36
UCEC	chr2	206144068	Missense_Mutation	novel	L313I	0.27
UCEC	chr2	206115991	3'UTR	NA		0.29
UCEC	chr2	206115991	3'UTR	NA		0.21
UCEC	chr2	206144910	Missense_Mutation	NA	W285L	0.14
UCEC	chr2	206124177	3'UTR	novel		0.42
UCEC	chr2	206130115	Missense_Mutation	novel	P561S	0.08
UCEC	chr2	206115991	3'UTR	NA		0.3
UCEC	chr2	206115991	3'UTR	NA		0.29
UCEC	chr2	206124092	3'UTR	novel		0.25
UCEC	chr2	206142693	Nonsense_Mutation	NA	G376*	0.33
UCEC	chr2	206149900	In_Frame_Ins	novel	I60delinsSSWAQVIL	0.05
UCEC	chr2	206126771	Missense_Mutation	NA	L653R	0.38
UCEC	chr2	206115991	3'UTR	NA		0.26
UCEC	chr2	206115991	3'UTR	NA		0.38
UCEC	chr2	206115991	3'UTR	NA		0.49
UCEC	chr2	206124092	3'UTR	novel		0.26
UCEC	chr2	206152508	Nonsense_Mutation	rs750971390	R22*	0.28
UCEC	chr2	206116123	3'UTR	novel		0.27
UCEC	chr2	206127806	Silent	NA	A625A	0.34
UCEC	chr2	206127902	Silent	novel	S593S	0.15
UCEC	chr2	206142060	Silent	novel	L381L	0.24
UCEC	chr2	206144060	Silent	novel	T315T	0.38
UCEC	chr2	206153635	In_Frame_Del	novel	V6_K15del	0.38
UCEC	chr2	206132997	Missense_Mutation	rs373870579	R501W	0.39
UCEC	chr2	206116133	3'UTR	novel		0.48
UCEC	chr2	206124246	Missense_Mutation	NA	A708V	0.3
UCEC	chr2	206149887	Missense_Mutation	novel	C64W	0.36

Copy Number Variations (CNVs)

Cancer	Type	Freq	Q-value
MESO	DEL	0.092	0.014499
PAAD	AMP	0.0761	0.1091
PAAD	DEL	0.0326	0.2014

Survival Analysis

Cancer	P-value	Q-value
KIRC	0.00011	Kaplan-Meier Survival Analysis
STAD	0.047	Kaplan-Meier Survival Analysis
MESO	0.036	Kaplan-Meier Survival Analysis
SKCM	0.016	Kaplan-Meier Survival Analysis
BRCA	0.0019	Kaplan-Meier Survival Analysis
KIRP	0.028	Kaplan-Meier Survival Analysis
COAD	0.013	Kaplan-Meier Survival Analysis
UCEC	0.046	Kaplan-Meier Survival Analysis
GBM	0.02	Kaplan-Meier Survival Analysis
LGG	0.022	Kaplan-Meier Survival Analysis
CHOL	0.05	Kaplan-Meier Survival Analysis
UVM	0.022	Kaplan-Meier Survival Analysis

Drugs

EuRBPDB

Description

RBPome

Expression

Transcripts

Gene Model

Pathways

GWAS

PPI

Orthologs

Gene Ontology

Select Dataset :

Input Drug :

Input Cell Line :

Eesembl ID

Cell lines and drugs in GSE70138 or GSE92742