• Gene id: 4539

Gene Summary

• Gene Symbol: ND4L   Gene   UCSC   Ensembl
• Aliases: MTND4L
• Gene name: mitochondrially encoded NADH 4L dehydrogenase
• Alternate names: NADH dehydrogenase, subunit 4L (complex I), NADH dehydrogenase subunit 4L,

Protein Summary

• Protein general information: P03901  
  • Name: NADH ubiquinone oxidoreductase chain 4L (EC 7.1.1.2) (NADH dehydrogenase subunit 4L)
  • Length: 98  
  • Mass: 10741
• Sequence:

  MPLIYMNIMLAFTISLLGMLVYRSHLMSSLLCLEGMMLSLFIMATLMTLNTHSLLANIVPIAMLVFAACEAAVGL
  ALLVSISNTYGLDYVHNLNLLQC

• Structural information:
  • Interpro: IPR001133  IPR039428  
  • PDB: 5XTC 5XTD
  • PDBsum: 5XTC 5XTD
  • STRING: ENSP00000354728
• Other Databases: GeneCards:  ND4L  Malacards:  ND4L

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0030964	NADH dehydrogenase complex	IBA	cellular component
GO:0005747	mitochondrial respiratory chain complex I	IBA	cellular component
GO:0008137	NADH dehydrogenase (ubiquinone) activity	IBA	molecular function
GO:0016651	oxidoreductase activity, acting on NAD(P)H	IEA	molecular function
GO:0042773	ATP synthesis coupled electron transport	IEA	biological process
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0070469	respirasome	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0008137	NADH dehydrogenase (ubiquinone) activity	IEA	molecular function
GO:0031966	mitochondrial membrane	IEA	cellular component
GO:0006120	mitochondrial electron transport, NADH to ubiquinone	NAS	biological process
GO:0008137	NADH dehydrogenase (ubiquinone) activity	NAS	molecular function
GO:0005747	mitochondrial respiratory chain complex I	NAS	cellular component

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa05010	Alzheimer disease
hsa05016	Huntington disease
hsa05012	Parkinson disease
hsa04714	Thermogenesis
hsa04723	Retrograde endocannabinoid signaling
hsa00190	Oxidative phosphorylation

Diseases

Associated diseases	References
Mitochondrial complex I deficiency	KEGG:H00473
Leber hereditary optic atrophy	KEGG:H00068
Kearns-Sayre syndrome	KEGG:H01355
Mitochondrial complex I deficiency	KEGG:H00473
Leber hereditary optic atrophy	KEGG:H00068
Kearns-Sayre syndrome	KEGG:H01355
Leber hereditary optic neuropathy	PMID:11935318
diabetes mellitus	PMID:7603516
Asthenoozoospermia	MIK: 32167074
Male factor infertility	MIK: 29961538

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
29961538	Male factor infertility			318 (128 couples presenting with OAT (MF) and 118 maternal age-matched control (no MF) subjects undergoing infertility treatment, 72 surplus cryopreserved blastocysts)	Male infertility	RNA-seq
32167074	Asthenoozoospermia			12 (6controls, 6 cases)	Male infertility	Microarray