ND4L (mitochondrially encoded NADH 4L dehydrogenase)

Gene

• Entrez ID: 4539
• Gene name: Mitochondrially encoded NADH 4L dehydrogenase
• Gene symbol: ND4L
• Synonyms (NCBI Gene): MTND4L
• Chromosome: MT
• Chromosome location: -

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT052064	hsa-let-7b-5p	CLASH	23622248
MIRT052064	hsa-let-7b-5p	CLASH	23622248
MIRT051743	hsa-let-7c-5p	CLASH	23622248
MIRT048170	hsa-miR-196a-5p	CLASH	23622248
MIRT038985	hsa-miR-15a-3p	CLASH	23622248

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
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	ISS
GO:0006120	Process	Mitochondrial electron transport, NADH to ubiquinone	NAS	3921850
GO:0008137	Function	NADH dehydrogenase (ubiquinone) activity	IDA	28844695, 29915388
GO:0008137	Function	NADH dehydrogenase (ubiquinone) activity	IEA
GO:0008137	Function	NADH dehydrogenase (ubiquinone) activity	NAS	3921850
GO:0009060	Process	Aerobic respiration	NAS	30030361
GO:0016020	Component	Membrane	IEA
GO:0016651	Function	Oxidoreductase activity, acting on NAD(P)H	IEA
GO:0042773	Process	ATP synthesis coupled electron transport	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	28844695, 29915388
GO:0045271	Component	Respiratory chain complex I	IEA
GO:0045271	Component	Respiratory chain complex I	NAS	3921850
GO:1902600	Process	Proton transmembrane transport	IEA

Other IDs

• MIM: 516004
• HGNC: 7460
• e!Ensembl: HGNC

Protein

• UniProt ID: P03901
• Protein name: NADH-ubiquinone oxidoreductase chain 4L (EC 7.1.1.2) (NADH dehydrogenase subunit 4L) (ND4L)
• 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 enzyme
• PDB: 5XTC, 5XTD
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00420	Oxidored_q2	3 → 98	NADH-ubiquinone/plastoquinone oxidoreductase chain 4L	Family

• Sequence:

  MPLIYMNIMLAFTISLLGMLVYRSHLMSSLLCLEGMMLSLFIMATLMTLNTHSLLANIVP
  IAMLVFAACEAAVGLALLVSISNTYGLDYVHNLNLLQC

• Sequence length: 98

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

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
DIABETES MELLITUS	—	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	—	CTD, Disgenet CTD, 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
Acidosis Lactic	Lactic acidosis	Pubtator	16404428	Associate	★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	34152079	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	16404428	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophageal neoplasm	Pubtator	16620376	Associate	★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington disease	Pubtator	38447791	Associate	★☆☆☆☆ Found in Text Mining only
Leigh Disease	Leigh syndrome	Pubtator	14684687	Associate	★☆☆☆☆ Found in Text Mining only
MELAS Syndrome	Melas syndrome	Pubtator	16404428	Associate	★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial disease	Pubtator	14684687	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mitochondrial Encephalomyopathies	Mitochondrial encephalomyopathy	Pubtator	16404428	Associate	★☆☆☆☆ Found in Text Mining only
Myopathy	Myopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	17456604		★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic Atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Optic Atrophy Hereditary Leber	Leber hereditary optic neuropathy	Pubtator	22400981, 22879922, 24568867	Associate	★☆☆☆☆ Found in Text Mining only
Optic Atrophy, Hereditary, Leber	Hereditary Leber Optic Atrophy	BEFREE	11935318, 22400981, 24568867, 29444077, 8680405		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Optic Atrophy, Hereditary, Leber	Hereditary Leber Optic Atrophy	CLINVAR_DG	11935318, 8680405		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Optic Atrophy, Hereditary, Leber	Hereditary Leber Optic Atrophy	UNIPROT_DG	8680405		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Optic Atrophy, Hereditary, Leber	Hereditary Leber Optic Atrophy	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Optic Atrophy, Hereditary, Leber	Hereditary Leber Optic Atrophy	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Peripheral Nervous System Diseases	Nervous System Diseases	HPO_DG			★☆☆☆☆ Found in Text Mining only
Polyneuropathy	Polyneuropathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Preexcitation Syndrome	Wolff-Parkinson-White Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Retinal telangiectasia	Retinal telangiectasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ventricular preexcitation	Ventricular preexcitation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Vision Disorders	Visual disorder	Pubtator	24568867	Associate	★☆☆☆☆ Found in Text Mining only