Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	4723
Gene name Gene Name - the full gene name approved by the HGNC.	NADH:ubiquinone oxidoreductase core subunit V1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	NDUFV1
Synonyms (NCBI Gene) Gene synonyms aliases	CI-51K, CI51KD, MC1DN4, UQOR1
Chromosome Chromosome number	11
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	11q13.2
Summary Summary of gene provided in NCBI Entrez Gene.	The mitochondrial respiratory chain provides energy to cells via oxidative phosphorylation and consists of four membrane-bound electron-transporting protein complexes (I-IV) and an ATP synthase (complex V). This gene encodes a 51 kDa subunit of the NADH:u

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SNP ID	Visualize variation	Clinical significance	Consequence
rs1127511	C>A,T	Likely-pathogenic	Synonymous variant, missense variant, coding sequence variant
rs121913659	C>T	Pathogenic, pathogenic-likely-pathogenic	Coding sequence variant, missense variant
rs121913661	G>A	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs142499054	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs150966634	C>T	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs199683937	A>C	Pathogenic, likely-pathogenic	Intron variant
rs201289242	C>A,T	Likely-pathogenic	Coding sequence variant, missense variant
rs536758576	G>A	Pathogenic	Missense variant, coding sequence variant
rs750831299	C>T	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs755312472	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs757486575	G>A	Pathogenic	Missense variant, coding sequence variant
rs766830864	G>-,GG	Pathogenic	Coding sequence variant, frameshift variant
rs767602961	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs777692271	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs778295360	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs863224118	A>C	Pathogenic	Missense variant, coding sequence variant
rs863224119	TAGA>-	Pathogenic	Frameshift variant, coding sequence variant
rs863224120	G>A,C	Pathogenic	Missense variant, coding sequence variant
rs1135402749	T>C	Pathogenic	Missense variant, coding sequence variant
rs1591111808	G>T	Likely-pathogenic	Coding sequence variant, stop gained

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miRTarBase ID	miRNA	Experiments	Reference
MIRT041953	hsa-miR-484	CLASH	23622248
MIRT2280976	hsa-miR-1179	CLIP-seq
MIRT2280977	hsa-miR-198	CLIP-seq
MIRT2280978	hsa-miR-338-3p	CLIP-seq
MIRT2280979	hsa-miR-4310	CLIP-seq
MIRT2280980	hsa-miR-4315	CLIP-seq
MIRT2280981	hsa-miR-4530	CLIP-seq
MIRT2280982	hsa-miR-4790-5p	CLIP-seq

Transcription factors

Show/Hide all(1)

Transcription factor	Regulation	Reference
SP1	Activation	17786189

Show/Hide all(31)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	24344204, 30021884, 31536960, 32296183, 32814053, 33961781
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IEA
GO:0005743	Component	Mitochondrial inner membrane	IDA	28844695
GO:0005743	Component	Mitochondrial inner membrane	IEA
GO:0005743	Component	Mitochondrial inner membrane	IEA
GO:0005743	Component	Mitochondrial inner membrane	NAS	8288251
GO:0005743	Component	Mitochondrial inner membrane	TAS
GO:0006120	Process	Mitochondrial electron transport, NADH to ubiquinone	IBA
GO:0006120	Process	Mitochondrial electron transport, NADH to ubiquinone	IC	11112787
GO:0006120	Process	Mitochondrial electron transport, NADH to ubiquinone	IDA	28844695
GO:0006120	Process	Mitochondrial electron transport, NADH to ubiquinone	IEA
GO:0006120	Process	Mitochondrial electron transport, NADH to ubiquinone	NAS	9878551
GO:0008137	Function	NADH dehydrogenase (ubiquinone) activity	IDA	28844695
GO:0008137	Function	NADH dehydrogenase (ubiquinone) activity	IEA
GO:0008137	Function	NADH dehydrogenase (ubiquinone) activity	NAS	8288251, 9878551
GO:0009060	Process	Aerobic respiration	NAS	30030361
GO:0010181	Function	FMN binding	IEA
GO:0016020	Component	Membrane	IEA
GO:0016491	Function	Oxidoreductase activity	IEA
GO:0042775	Process	Mitochondrial ATP synthesis coupled electron transport	IMP	24746669
GO:0042776	Process	Proton motive force-driven mitochondrial ATP synthesis	NAS	30030361
GO:0045271	Component	Respiratory chain complex I	IBA
GO:0045271	Component	Respiratory chain complex I	IDA	12611891, 28844695, 31536960
GO:0045271	Component	Respiratory chain complex I	IEA
GO:0045271	Component	Respiratory chain complex I	IMP	11112787, 24746669
GO:0046872	Function	Metal ion binding	IEA
GO:0051287	Function	NAD binding	IEA
GO:0051536	Function	Iron-sulfur cluster binding	IEA
GO:0051539	Function	4 iron, 4 sulfur cluster binding	IEA
GO:1902600	Process	Proton transmembrane transport	IEA

MIM	HGNC	e!Ensembl
161015	7716	ENSG00000167792

Protein

UniProt ID

P49821

Protein name

NADH dehydrogenase [ubiquinone] flavoprotein 1, mitochondrial (NDUFV1) (EC 7.1.1.2) (Complex I-51kD) (CI-51kD) (NADH dehydrogenase flavoprotein 1) (NADH-ubiquinone oxidoreductase 51 kDa subunit)

Protein function

Core subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) which catalyzes electron transfer from NADH through the respiratory chain, using ubiquinone as an electron acceptor (PubMed:28844695). Part of the periph

PDB

5XTB , 5XTD , 5XTH , 5XTI

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF01512	Complex1_51K	80 → 252	Respiratory-chain NADH dehydrogenase 51 Kd subunit	Family
PF10531	SLBB	275 → 326	SLBB domain	Domain
PF10589	NADH_4Fe-4S	365 → 449	NADH-ubiquinone oxidoreductase-F iron-sulfur binding region	Domain

Sequence

MLATRRLLGWSLPARVSVRFSGDTTAPKKTSFGSLKDEDRIFTNLYGRHDWRLKGSLSRG
DWYKTKEILLKGPDWILGEIKTSGLRGRGGAGFPTGLKWSFMNKPSDGRPKYLVVNADEG
EPGTCKDREILRHDPHKLLEGCLVGGRAMGARAAYIYIRGEFYNEASNLQVAIREAYEAG
LIGKNACGSGYDFDVFVVRGAGAYICGEETALIESIEGKQGKPRLKPPFPADVGVFGCPT
TVANVETVAVSPTICRRGGTWFAGFGRERNSGTKLFNISGHVNHPCTVEEEMSVPLKELI
EKHAGGVTGGWDNLLAVIPGGSSTPLIPKSVCETVLMDFDALVQAQTGLGTAAVIVMDRS
TDIVKAIARLIEFYKHESCGQCTPCREGVDWMNKVMARFVRGDARPAEIDSLWEISKQIE
GHTICALGDGAAWPVQGLIRHFRPELEERMQRFAQQHQARQAAS

Sequence length

464

Interactions

View interactions

	KEGG		Reactome
	Oxidative phosphorylation Metabolic pathways Thermogenesis Retrograde endocannabinoid signaling Non-alcoholic fatty liver disease Alzheimer disease Parkinson disease Amyotrophic lateral sclerosis Huntington disease Prion disease Pathways of neurodegeneration - multiple diseases Chemical carcinogenesis - reactive oxygen species Diabetic cardiomyopathy		Respiratory electron transport Complex I biogenesis

Show/Hide Causal Diseases (2)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
leigh syndrome	Leigh syndrome	rs121913660, rs121913661, rs536758576, rs757486575, rs750831299, rs1229474296, rs121913659, rs1591111808, rs768050261, rs766830864, rs199683937	N/A
Mitochondrial Complex Deficiency	Mitochondrial complex I deficiency, nuclear type 1, Mitochondrial complex 1 deficiency, nuclear type 4, mitochondrial complex i deficiency	rs150966634, rs121913661, rs1135402749, rs121913659, rs757486575, rs536758576, rs750831299, rs768050261, rs199683937, rs1591111808, rs121913660	N/A

Show/Hide Unknown Diseases (2)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Dermatitis	Atopic dermatitis	N/A	N/A	GWAS
Leigh Syndrome With Leukodystrophy	Leigh syndrome with leukodystrophy	N/A	N/A	GenCC

Show/Hide Text Mining Associations (17)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Acidosis Lactic	Associate	33182419
Alzheimer Disease	Associate	26125932
Amyloidosis	Associate	35066432
Breast Neoplasms	Associate	35115484, 39873399
Cardiomyopathy Dilated	Associate	27711126
Demyelinating Diseases	Associate	36163075
Huntington Disease	Associate	38447791
Leigh Disease	Associate	11349233, 32871395, 33182419, 36675121
Leukoencephalopathies	Associate	33811136, 35803560, 36163075
Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation	Associate	33182419
Metabolism Inborn Errors	Associate	33182419
Mitochondrial complex I deficiency	Associate	11349233, 18435906, 20153825, 23631824, 29976978, 33182419
Mitochondrial Diseases	Associate	21978538, 23596069, 35482023
Neoplasms	Associate	39873399
Neurologic Manifestations	Associate	35482023
Schizophrenia	Associate	17786189
Wilms Tumor	Associate	30671724

NDUFV1 (NADH:ubiquinone oxidoreductase core subunit V1)