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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	4723
Gene name	NADH:ubiquinone oxidoreductase core subunit V1
Gene symbol	NDUFV1
Synonyms (NCBI Gene)	CI-51KCI51KDMC1DN4UQOR1
Chromosome	11
Chromosome location	11q13.2
Summary	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

Show/Hide all (20)

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

Show/Hide all (8)

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

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

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

265

Show/Hide Causal Diseases (7)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Leigh syndrome	Likely pathogenic; Pathogenic	rs750831299, rs1316287327, rs1854876433, rs121913659, rs768050261, rs121913660, rs121913661, rs199683937, rs536758576, rs1229474296, rs1591111808, rs766830864	RCV004586617 RCV003231029 RCV003405050 RCV002468969 RCV001420935 RCV003155025 RCV003234905 RCV001778956 RCV001731801 RCV004017737 RCV000988585 RCV000988586
Mitochondrial complex I deficiency	Likely pathogenic; Pathogenic	rs121913659, rs121913660, rs1135402749	RCV000015100 RCV000015102 RCV000496998
Mitochondrial complex I deficiency, nuclear type	Likely pathogenic; Pathogenic	rs536758576	RCV004760638
Mitochondrial complex I deficiency, nuclear type 1	Likely pathogenic; Pathogenic	rs1290684221, rs121913659, rs199683937, rs150966634	RCV001806398 RCV000763271 RCV000763270 RCV001004858
Mitochondrial complex I deficiency, nuclear type 4	Pathogenic; Likely pathogenic	rs2134085151, rs1591109810, rs2134082911, rs1424452972, rs2495726355, rs921833941, rs200865872, rs750831299, rs761756462, rs2495726667, rs774471485, rs121913659, rs768050261, rs121913660, rs121913661 View all (6 more)	RCV001728100 RCV001784721 RCV001782507 RCV005050412 RCV002283876 RCV005050704 RCV003447635 RCV004554745 RCV003110160 RCV003340965 RCV005051322 RCV000735412 RCV000015101 RCV001331688 RCV000015103 RCV005051394 RCV000015104 RCV001662464 RCV001805114 RCV001783094 RCV005049724
Mitochondrial complex V (ATP synthase) deficiency, nuclear type 5	Likely pathogenic; Pathogenic	rs761756462	RCV005402013
NDUFV1-related disorder	Likely pathogenic; Pathogenic	rs2495722896, rs2495716193, rs536758576	RCV004528672 RCV004534194 RCV004530649

Show/Hide Unknown Diseases (16)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Benign	rs11227858	RCV005904186
Cervical cancer	Benign; Likely benign	rs4148958, rs2495724227, rs11227858	RCV005918238 RCV005931276 RCV005904188
Cholangiocarcinoma	Benign	rs11227858	RCV005904192
Familial cancer of breast	Benign; Likely benign	rs201909709	RCV005905743
Gastric cancer	Conflicting classifications of pathogenicity; Benign	rs184136353, rs2514064	RCV005893010 RCV005905830
Hepatocellular carcinoma	Likely benign	rs199609729	RCV005921093
Lung cancer	Benign; Likely benign	rs2514064, rs11227858, rs201909709	RCV005905832 RCV005904193 RCV005905746
Malignant lymphoma, large B-cell, diffuse	Benign	rs2514064	RCV005905829
Malignant tumor of esophagus	Uncertain significance; Benign	rs148352905, rs11227858	RCV005899718 RCV005904187
Ovarian serous cystadenocarcinoma	Benign; Likely benign; Conflicting classifications of pathogenicity	rs11227858, rs201909709, rs201992354	RCV005904189 RCV005905745 RCV005909193
Sarcoma	Benign; Likely benign	rs201909709	RCV005905744
See cases	Uncertain significance	rs1202963769, rs151144350	RCV002252614 RCV002252155
Squamous cell carcinoma of the head and neck	Likely benign	rs2495720552	RCV005934617
Thymoma	Likely benign; Benign	rs139894497, rs11227858	RCV005934799 RCV005904191
Uterine carcinosarcoma	Benign	rs2514064, rs11227858, rs11227853	RCV005905831 RCV005904190 RCV005905817
Uterine corpus endometrial carcinoma	Benign; Likely benign	rs201909709	RCV005905747

Show/Hide Text Mining Associations (17)

Disease Name	Relationship Type	References
Associations from Text MiningDisease 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)