• Gene id: 4538

Gene Summary

• Gene Symbol: ND4   Gene   UCSC   Ensembl
• Aliases: MTND4
• Gene name: mitochondrially encoded NADH dehydrogenase 4
• Alternate names: NADH dehydrogenase, subunit 4 (complex I), NADH dehydrogenase subunit 4,
• OMIM: 0

Protein Summary

• Protein general information: P03905  
  • Name: NADH ubiquinone oxidoreductase chain 4 (EC 1.6.5.3) (NADH dehydrogenase subunit 4)
  • Length: 459  
  • Mass: 51,581
• Sequence:

  MLKLIVPTIMLLPLTWLSKKHMIWINTTTHSLIISIIPLLFFNQINNNLFSCSPTFSSDPLTTPLLMLTTWLLPL
  TIMASQRHLSSEPLSRKKLYLSMLISLQISLIMTFTATELIMFYIFFETTLIPTLAIITRWGNQPERLNAGTYFL
  FYTLVGSLPLLIALIYTHNTLGSLNILLLTLTAQELSNSWANNLMWLAYTMAFMVKMPLYGLHLWLPKAHVEAPI
  AGSMVLAAVLLKLGGYGMMRLTLILNPLTKHMAYPFLVLSLWGMIMTSSICLRQTDLKSLIAYSSISHMALVVTA
  ILIQTPWSFTGAVILMIAHGLTSSLLFCLANSNYERTHSRIMILSQGLQTLLPLMAFWWLLASLANLALPPTINL
  LGELSVLVTTFSWSNITLLLTGLNMLVTALYSLYMFTTTQWGSLTHHINNMKPSFTRENTLMFMHLSPILLLSLN
  PDIITGFSS

• Structural information:
  • Interpro: IPR000260  IPR010227  IPR003918  IPR001750  
  • PDB: 5XTC 5XTD
  • PDBsum: 5XTC 5XTD
  • STRING: ENSP00000354961
• Other Databases: GeneCards:  ND4  Malacards:  ND4

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0001666	response to hypoxia	IEA	biological process
GO:0001701	in utero embryonic development	IEA	biological process
GO:0005743	mitochondrial inner membrane	TAS	cellular component
GO:0005743	mitochondrial inner membrane	TAS	cellular component
GO:0005743	mitochondrial inner membrane	TAS	cellular component
GO:0005743	mitochondrial inner membrane	TAS	cellular component
GO:0005747	mitochondrial respiratory chain complex I	IDA	cellular component
GO:0005747	mitochondrial respiratory chain complex I	NAS	cellular component
GO:0006120	mitochondrial electron transport, NADH to ubiquinone	NAS	biological process
GO:0006120	mitochondrial electron transport, NADH to ubiquinone	TAS	biological process
GO:0007568	aging	IEA	biological process
GO:0008137	NADH dehydrogenase (ubiquinone) activity	NAS	molecular function
GO:0016021	integral component of membrane	IEA	cellular component
GO:0021549	cerebellum development	IEA	biological process
GO:0032981	mitochondrial respiratory chain complex I assembly	TAS	biological process
GO:0035094	response to nicotine	IEA	biological process
GO:0045471	response to ethanol	IEA	biological process
GO:0001666	response to hypoxia	IEA	biological process
GO:0001701	in utero embryonic development	IEA	biological process
GO:0005739	mitochondrion	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0005743	mitochondrial inner membrane	TAS	cellular component
GO:0005743	mitochondrial inner membrane	TAS	cellular component
GO:0005743	mitochondrial inner membrane	TAS	cellular component
GO:0005743	mitochondrial inner membrane	TAS	cellular component
GO:0005747	mitochondrial respiratory chain complex I	IDA	cellular component
GO:0005747	mitochondrial respiratory chain complex I	NAS	cellular component
GO:0006120	mitochondrial electron transport, NADH to ubiquinone	IEA	biological process
GO:0006120	mitochondrial electron transport, NADH to ubiquinone	NAS	biological process
GO:0006120	mitochondrial electron transport, NADH to ubiquinone	TAS	biological process
GO:0007568	aging	IEA	biological process
GO:0008137	NADH dehydrogenase (ubiquinone) activity	IEA	molecular function
GO:0008137	NADH dehydrogenase (ubiquinone) activity	IEA	molecular function
GO:0008137	NADH dehydrogenase (ubiquinone) activity	NAS	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0021549	cerebellum development	IEA	biological process
GO:0031966	mitochondrial membrane	IEA	cellular component
GO:0032981	mitochondrial respiratory chain complex I assembly	TAS	biological process
GO:0035094	response to nicotine	IEA	biological process
GO:0042773	ATP synthesis coupled electron transport	IEA	biological process
GO:0045471	response to ethanol	IEA	biological process
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0070469	respiratory chain	IEA	cellular component
GO:0005743	mitochondrial inner membrane	TAS	cellular component
GO:0005743	mitochondrial inner membrane	TAS	cellular component
GO:0005743	mitochondrial inner membrane	TAS	cellular component
GO:0005743	mitochondrial inner membrane	TAS	cellular component
GO:0005747	mitochondrial respiratory chain complex I	IDA	cellular component
GO:0005747	mitochondrial respiratory chain complex I	NAS	cellular component
GO:0006120	mitochondrial electron transport, NADH to ubiquinone	NAS	biological process
GO:0006120	mitochondrial electron transport, NADH to ubiquinone	TAS	biological process
GO:0008137	NADH dehydrogenase (ubiquinone) activity	NAS	molecular function
GO:0032981	mitochondrial respiratory chain complex I assembly	TAS	biological process

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00010	Glycolysis / Gluconeogenesis
hsa04141	Protein processing in endoplasmic reticulum
hsa04120	Ubiquitin mediated proteolysis
hsa04010	MAPK signaling pathway
hsa04723	Retrograde endocannabinoid signaling
hsa04714	Thermogenesis
hsa05012	Parkinson disease

Diseases

Associated diseases	References
Cancer (glaucoma)	GAD: 16604388
Cancer	GAD: 19050702
Cancer (colorectal)	GAD: 19050702
Long QT syndrome	GAD: 19369097
Optic atrophy	GAD: 20599858
Optic atrophy	GAD: 15840367
Macular degeneration	GAD: 19434233
Retinal diseases	GAD: 20801516
Mitochondrial diseases	KEGG: H00473
Diabetes	GAD: 19199242
Kearns-Sayre Syndrome	KEGG: H01355
Leber hereditary optic neuropathy	GAD: 19247386
Leber hereditary optic neuropathy	GAD: 17045122
Leber hereditary optic atrophy	KEGG: H00068
Leber hereditary optic neuropathy	KEGG: H01365
Alzheimer's disease	GAD: 19758471
Cognitive function	GAD: 19449098
Oligozoospermia	GAD: 17069814
Pregnancy loss	GAD: 19297417
Premature ovarian failure (POF)	GAD: 20680310
Oligoasthenozoospermia	MIK: 17517394
Low sperm motility	MIK: 17517394
Leber vision disorders	GAD: 19525327
Oligoasthenozoospermia	MIK: 17517394
Low sperm motility	MIK: 17517394
Male infertility	MIK: 27973917

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17517394	Low sperm motility, oligoasthenozoospermia	C11994T			Male infertility	ND4
27973917	Male infertility	g.11084A>G, p.T109A	Chinese	177 (97 asthenospermia patients, 80 fertile controls)	Male infertility	MT-TL1 MT-ND4