ND3 (mitochondrially encoded NADH dehydrogenase 3)

Gene

• Entrez ID: 4537
• Gene name: Mitochondrially encoded NADH dehydrogenase 3
• Gene symbol: ND3
• Synonyms (NCBI Gene): MTND3
• Chromosome: MT
• Chromosome location: -

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT051471	hsa-let-7e-5p	CLASH	23622248
MIRT051471	hsa-let-7e-5p	CLASH	23622248
MIRT048606	hsa-miR-99a-5p	CLASH	23622248
MIRT036745	hsa-miR-760	CLASH	23622248

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	16384638, 32320651, 33753518
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	TAS
GO:0006120	Process	Mitochondrial electron transport, NADH to ubiquinone	IMP	25118196
GO:0006120	Process	Mitochondrial electron transport, NADH to ubiquinone	NAS	3921850
GO:0006979	Process	Response to oxidative stress	IEA
GO:0008137	Function	NADH dehydrogenase (ubiquinone) activity	IBA
GO:0008137	Function	NADH dehydrogenase (ubiquinone) activity	IEA
GO:0008137	Function	NADH dehydrogenase (ubiquinone) activity	IMP	25118196
GO:0008137	Function	NADH dehydrogenase (ubiquinone) activity	NAS	3921850
GO:0009060	Process	Aerobic respiration	NAS	30030361
GO:0009642	Process	Response to light intensity	IEA
GO:0009725	Process	Response to hormone	IEA
GO:0016020	Component	Membrane	IEA
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
GO:0045271	Component	Respiratory chain complex I	IEA
GO:0045271	Component	Respiratory chain complex I	NAS	3921850
GO:0071385	Process	Cellular response to glucocorticoid stimulus	IEA
GO:1902600	Process	Proton transmembrane transport	IEA

Other IDs

• MIM: 516002
• HGNC: 7458
• e!Ensembl: HGNC

Protein

• UniProt ID: P03897
• Protein name: NADH-ubiquinone oxidoreductase chain 3 (EC 7.1.1.2) (NADH dehydrogenase subunit 3)
• 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:25118196). Essential for the
• PDB: 5XTC, 5XTD
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00507	Oxidored_q4	14 → 113	NADH-ubiquinone/plastoquinone oxidoreductase, chain 3	Family

• Sequence:

  MNFALILMINTLLALLLMIITFWLPQLNGYMEKSTPYECGFDPMSPARVPFSMKFFLVAI
  TFLLFDLEIALLLPLPWALQTTNLPLMVMSSLLLIIILALSLAYEWLQKGLDWTE

• Sequence length: 115

Pathways

KEGG:

Oxidative phosphorylation
Metabolic pathways
Thermogenesis
Retrograde endocannabinoid signaling
Alzheimer disease
Parkinson disease
Amyotrophic lateral sclerosis
Huntington disease
Prion disease
Pathways of neurodegeneration - multiple diseases
Chemical carcinogenesis - reactive oxygen species
Diabetic cardiomyopathy

Reactome:

Respiratory electron transport
Complex I biogenesis

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
CEREBELLAR ATAXIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CLEFT PALATE AND BILATERAL CLEFT LIP	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEBER OPTIC ATROPHY AND DYSTONIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEBER PLUS DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEIGH DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MELAS SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MITOCHONDRIAL COMPLEX I DEFICIENCY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MITOCHONDRIAL COMPLEX I DEFICIENCY, MITOCHONDRIAL TYPE 1	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MITOCHONDRIAL COMPLEX V DEFICIENCY, MITOCHONDRIAL TYPE 1	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MITOCHONDRIAL DISEASES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEUROPATHY, ATAXIA, AND RETINITIS PIGMENTOSA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OPTIC ATROPHY, HEREDITARY, LEBER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARKINSON DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ROD-CONE DYSTROPHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ULNAR POLYDACTYLY OF FINGERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Alzheimer Disease	Alzheimer disease	Pubtator	30040709	Associate	★☆☆☆☆ Found in Text Mining only
Angina Pectoris	Angina pectoris	Pubtator	35328073	Associate	★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Brain Diseases	Brain disease	Pubtator	28050007	Associate	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	29414393		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	22692071, 24437375, 25300428, 26782384	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Dilated	Dilated cardiomyopathy	Pubtator	32396277	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Dilated	Cardiomyopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Childhood Acute Myeloid Leukemia	Acute Myeloid Leukemia	BEFREE	31119613		★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	29237403	Associate	★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	8600309		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	Pubtator	35328073	Associate	★☆☆☆☆ Found in Text Mining only
Deglutition Disorders	Dysphagia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Developmental regression	Developmental regression	HPO_DG			★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	34724985	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	23133645, 35328073	Associate	★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down Syndrome	BEFREE	10666677		★☆☆☆☆ Found in Text Mining only
Dyskinetic syndrome	Dyskinetic Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dystonia Disorders	Dystonia	BEFREE	17152068		★☆☆☆☆ Found in Text Mining only
Encephalopathies	Epileptic encephalopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Epilepsia Partialis Continua	Epilepsia Partialis Continua	BEFREE	19520270, 27742419		★☆☆☆☆ Found in Text Mining only
Fatty Liver	Fatty Liver	BEFREE	24020820		★☆☆☆☆ Found in Text Mining only
Generalized myoclonic seizures	Myoclonic Seizures	HPO_DG			★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
High altitude pulmonary edema	High Altitude Pulmonary Edema	BEFREE	31358833		★☆☆☆☆ Found in Text Mining only
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypoglycemia	Hypoglycemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
LEBER OPTIC ATROPHY AND DYSTONIA	Leber Plus Disease	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Leber plus disease	Leber Plus Disease	ORPHANET_DG	19458970		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Leigh Disease	Leigh Syndrome	CLINVAR_DG	11456298, 14684687, 14705112, 14764913, 15576045, 16023078, 17152068, 17535832, 19458970, 20202874, 25118196		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Leigh Disease	Leigh Syndrome	BEFREE	14764913, 16023078, 16044424, 17152068, 19458970, 24284231, 25118196, 31105631, 31178082		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Leigh Disease	Leigh Syndrome	LHGDN	14764913, 16023078, 17152068		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Leigh Disease	Leigh Syndrome	UNIPROT_DG	17152068		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Leigh Disease	Leigh syndrome	Pubtator	32371897, 36093993	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Leukodystrophy	Leukodystrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Leukoencephalopathy	Leukoencephalopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Liver Failure	Liver failure	HPO_DG			★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	30275759	Associate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	29414393		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	30275759		★☆☆☆☆ Found in Text Mining only
Maternally Inherited Leigh Syndrome	Maternally Inherited Leigh Syndrome	ORPHANET_DG	16023078, 20202874, 22364517		★☆☆☆☆ Found in Text Mining only
Maternally Inherited Leigh Syndrome	Maternally Inherited Leigh Syndrome	BEFREE	20202874		★☆☆☆☆ Found in Text Mining only
MELAS Syndrome	Melas syndrome	Pubtator	28050007	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MELAS Syndrome	MELAS Syndrome	BEFREE	31178082		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microcephaly	Microcephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
MITOCHONDRIAL COMPLEX I DEFICIENCY	Mitochondrial Complex Deficiency	ORPHANET_DG	14705112		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mitochondrial complex I deficiency	Mitochondrial complex deficiency	Pubtator	35715829	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MITOCHONDRIAL COMPLEX I DEFICIENCY, MITOCHONDRIAL TYPE 1	Mitochondrial Complex Deficiency	UNIPROT_DG	11456298, 14705112, 20818383		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MITOCHONDRIAL COMPLEX I DEFICIENCY, MITOCHONDRIAL TYPE 1	Mitochondrial Complex Deficiency	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mitochondrial Diseases	Mitochondrial Diseases	BEFREE	19520270, 27742419, 29237403		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mitochondrial Diseases	Mitochondrial disease	Pubtator	29237403	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mitochondrial encephalopathy	Mitochondrial encephalopathy	BEFREE	14705112		★☆☆☆☆ Found in Text Mining only
Mitochondrial Myopathies	Mitochondrial myopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple sclerosis	Pubtator	35130313	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	12353267, 29414393, 8600309		★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	30040709	Associate	★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	23993954		★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	35328073	Associate	★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic Atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	12618962, 15827561	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Parkinson Disease	Parkinson disease	BEFREE	15827561		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Peripheral demyelinating neuropathy	Demyelinating neuropathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	24437375	Associate	★☆☆☆☆ Found in Text Mining only
Ptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pulmonary edema of mountaineers	Pulmonary edema	Pubtator	31358833	Associate	★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	8600309		★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Retinitis Pigmentosa	HPO_DG			★☆☆☆☆ Found in Text Mining only
Rod-Cone Dystrophy	Rod-cone dystrophy	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sensorimotor neuropathy	Sensorimotor neuropathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sporadic Breast Carcinoma	Breast Carcinoma	BEFREE	19266278		★☆☆☆☆ Found in Text Mining only
Steatohepatitis	Fatty Liver	BEFREE	24020820		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	30275759		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	30275759	Associate	★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Stroke	Stroke	Pubtator	28050007, 29237403	Associate	★☆☆☆☆ Found in Text Mining only
Tonic - clonic seizures	Seizure	HPO_DG			★☆☆☆☆ Found in Text Mining only
West Syndrome	West Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only