• Gene id: 4535

Gene Summary

• Gene Symbol: ND1   Gene   UCSC   Ensembl
• Aliases: MTND1
• Gene name: mitochondrially encoded NADH dehydrogenase 1
• Alternate names: NADH dehydrogenase, subunit 1 (complex I), NADH dehydrogenase subunit 1,

Protein Summary

• Protein general information: P03886  
  • Name: NADH ubiquinone oxidoreductase chain 1 (EC 7.1.1.2) (NADH dehydrogenase subunit 1)
  • Length: 318  
  • Mass: 35661
• Sequence:

  MPMANLLLLIVPILIAMAFLMLTERKILGYMQLRKGPNVVGPYGLLQPFADAMKLFTKEPLKPATSTITLYITAP
  TLALTIALLLWTPLPMPNPLVNLNLGLLFILATSSLAVYSILWSGWASNSNYALIGALRAVAQTISYEVTLAIIL
  LSTLLMSGSFNLSTLITTQEHLWLLLPSWPLAMMWFISTLAETNRTPFDLAEGESELVSGFNIEYAAGPFALFFM
  AEYTNIIMMNTLTTTIFLGTTYDALSPELYTTYFVTKTLLLTSLFLWIRTAYPRFRYDQLMHLLWKNFLPLTLAL
  LMWYVSMPITISSIPPQT

• Structural information:
  • Interpro: IPR001694  IPR018086  
  • Prosite: PS00667 PS00668
  • PDB: 5XTC 5XTD
  • PDBsum: 5XTC 5XTD
  • STRING: ENSP00000354687
• Other Databases: GeneCards:  ND1  Malacards:  ND1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005747	mitochondrial respiratory chain complex I	IBA	cellular component
GO:0009060	aerobic respiration	IBA	biological process
GO:0005747	mitochondrial respiratory chain complex I	IDA	cellular component
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0005743	mitochondrial inner membrane	IEA	cellular component
GO:0070469	respirasome	IEA	cellular component
GO:0008137	NADH dehydrogenase (ubiquinone) activity	IEA	molecular function
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:0005743	mitochondrial inner membrane	TAS	cellular component
GO:0005743	mitochondrial inner membrane	TAS	cellular component
GO:0032981	mitochondrial respiratory chain complex I assembly	TAS	biological process
GO:0006120	mitochondrial electron transport, NADH to ubiquinone	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0033194	response to hydroperoxide	IEA	biological process
GO:0030425	dendrite	IEA	cellular component
GO:0014070	response to organic cyclic compound	IEA	biological process
GO:0043025	neuronal cell body	IEA	cellular component
GO:0042493	response to drug	IEA	biological process
GO:0005739	mitochondrion	IEA	cellular component
GO:0005743	mitochondrial inner membrane	IEA	cellular component
GO:0031966	mitochondrial membrane	IDA	cellular component
GO:0005747	mitochondrial respiratory chain complex I	IDA	cellular component
GO:0008137	NADH dehydrogenase (ubiquinone) activity	NAS	molecular function
GO:0006120	mitochondrial electron transport, NADH to ubiquinone	NAS	biological process
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
MELAS Syndrome	KEGG:H01347
Leber hereditary optic neuropathy and dystonia	KEGG:H01365
Mitochondrial complex I deficiency	KEGG:H00473
Leber hereditary optic atrophy	KEGG:H00068
MELAS Syndrome	KEGG:H01347
Leber hereditary optic neuropathy and dystonia	KEGG:H01365
Wolfram syndrome	PMID:9309689
Alzheimer's disease	PMID:15075441
Renal hypertension	PMID:18194667
anterior ischemic optic neuropathy	PMID:17454741
Friedreich ataxia	PMID:18807169
Parkinson's disease	PMID:11506395
Parkinson's disease	PMID:11022854
Multiple sclerosis	PMID:18566918
Bipolar disorder	PMID:15533721
MELAS syndrome	PMID:15466014
Peripheral nervous system disease	PMID:17684475
Rheumatoid arthritis	PMID:15987486
type 2 diabetes mellitus	PMID:18679013
type 2 diabetes mellitus	PMID:15265369
obesity	PMID:16060290
Asthenoozoospermia	MIK: 32167074

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
32167074	Asthenoozoospermia			12 (6controls, 6 cases)	Male infertility	Microarray