• Gene id: 4540

Gene Summary

• Gene Symbol: ND5   Gene   UCSC   Ensembl
• Aliases: MTND5
• Gene name: mitochondrially encoded NADH dehydrogenase 5
• Alternate names: NADH dehydrogenase, subunit 5 (complex I), NADH dehydrogenase subunit 5,

Protein Summary

• Protein general information: P03915  
  • Name: NADH ubiquinone oxidoreductase chain 5 (EC 7.1.1.2) (NADH dehydrogenase subunit 5)
  • Length: 603  
  • Mass: 67027
• Sequence:

  MTMHTTMTTLTLTSLIPPILTTLVNPNKKNSYPHYVKSIVASTFIISLFPTTMFMCLDQEVIISNWHWATTQTTQ
  LSLSFKLDYFSMMFIPVALFVTWSIMEFSLWYMNSDPNINQFFKYLLIFLITMLILVTANNLFQLFIGWEGVGIM
  SFLLISWWYARADANTAAIQAILYNRIGDIGFILALAWFILHSNSWDPQQMALLNANPSLTPLLGLLLAAAGKSA
  QLGLHPWLPSAMEGPTPVSALLHSSTMVVAGIFLLIRFHPLAENSPLIQTLTLCLGAITTLFAAVCALTQNDIKK
  IVAFSTSSQLGLMMVTIGINQPHLAFLHICTHAFFKAMLFMCSGSIIHNLNNEQDIRKMGGLLKTMPLTSTSLTI
  GSLALAGMPFLTGFYSKDHIIETANMSYTNAWALSITLIATSLTSAYSTRMILLTLTGQPRFPTLTNINENNPTL
  LNPIKRLAAGSLFAGFLITNNISPASPFQTTIPLYLKLTALAVTFLGLLTALDLNYLTNKLKMKSPLCTFYFSNM
  LGFYPSITHRTIPYLGLLTSQNLPLLLLDLTWLEKLLPKTISQHQISTSIITSTQKGMIKLYFLSFFFPLILTLL
  LIT

• Structural information:
  • Interpro: IPR010934  IPR003945  IPR001750  IPR001516  
  • PDB: 5XTC 5XTD 5XTH 5XTI
  • PDBsum: 5XTC 5XTD 5XTH 5XTI
  • STRING: ENSP00000354813
• Other Databases: GeneCards:  ND5  Malacards:  ND5

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005747	mitochondrial respiratory chain complex I	NAS	cellular component
GO:0006120	mitochondrial electron transport, NADH to ubiquinone	NAS	biological process
GO:0008137	NADH dehydrogenase (ubiquinone) activity	NAS	molecular function
GO:0042773	ATP synthesis coupled electron transport	IEA	biological process
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0008137	NADH dehydrogenase (ubiquinone) activity	IEA	molecular function
GO:0003954	NADH dehydrogenase activity	IBA	molecular function
GO:0005747	mitochondrial respiratory chain complex I	IBA	cellular component
GO:0015990	electron transport coupled proton transport	IBA	biological process
GO:0055114	oxidation-reduction process	IEA	biological process
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:0016021	integral component of membrane	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:0032981	mitochondrial respiratory chain complex I assembly	TAS	biological process
GO:0006120	mitochondrial electron transport, NADH to ubiquinone	TAS	biological process
GO:0003954	NADH dehydrogenase activity	IEA	molecular function
GO:0042542	response to hydrogen peroxide	IEA	biological process
GO:0043005	neuron projection	IEA	cellular component
GO:0010243	response to organonitrogen compound	IEA	biological process
GO:0001666	response to hypoxia	IEA	biological process
GO:0005743	mitochondrial inner membrane	IEA	cellular component
GO:0005747	mitochondrial respiratory chain complex I	IDA	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
Kearns-Sayre syndrome	KEGG:H01355
Myoclonic Epilepsy and Ragged-Red Fiber Disease	KEGG:H01356
Mitochondrial complex I deficiency	KEGG:H00473
Leber hereditary optic atrophy	KEGG:H00068
MELAS Syndrome	KEGG:H01347
Kearns-Sayre syndrome	KEGG:H01355
Myoclonic Epilepsy and Ragged-Red Fiber Disease	KEGG:H01356
Leigh disease	PMID:18495510
MELAS syndrome	PMID:18587274
Leber hereditary optic neuropathy	PMID:19022198
Asthenoozoospermia	MIK: 32167074
Oligoasthenospermia	MIK: 26231857

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
26231857	Oligoasthenospermia	A12361G	Chinese	1687 ( 921 infertile patients with idiopathic oligoasthenospermia, 766 age-matched fertile controls)	Male infertility	NGS
32167074	Asthenoozoospermia			12 (6controls, 6 cases)	Male infertility	Microarray