• Gene id: 4698

Gene Summary

• Gene Symbol: NDUFA5   Gene   UCSC   Ensembl
• Aliases: B13, CI-13KD-B, CI-13kB, NUFM, UQOR13
• Gene name: NADH:ubiquinone oxidoreductase subunit A5
• Alternate names: NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 5, NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 5, 13kDa, NADH-ubiquinone oxidoreductase 13 kDa-B subunit, complex I 13kDa subunit B, complex I subunit B13, type I dehydrogenase, ubiquinone reduc,
• Gene location: 7q31.32 (123601650: 123536996)     Exons: 14     NC_000007.14
• Gene summary(Entrez): This nuclear gene encodes a conserved protein that comprises the B13 subunit of complex I of the mitochondrial respiratory chain. The encoded protein localizes to the inner mitochondrial membrane, where it is thought to aid in the transfer of electrons fr
• OMIM: 601677

Protein Summary

• Protein general information: Q16718  
  • Name: NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 5 (Complex I subunit B13) (Complex I 13kD B) (CI 13kD B) (NADH ubiquinone oxidoreductase 13 kDa B subunit)
  • Length: 116  
  • Mass: 13459
  • Tissue specificity: Expressed in all tissues examined with highest levels in heart, skeletal muscle and brain. {ECO
• Sequence:

  MAGVLKKTTGLVGLAVCNTPHERLRILYTKILDVLEEIPKNAAYRKYTEQITNEKLAMVKAEPDVKKLEDQLQGG
  QLEEVILQAEHELNLARKMREWKLWEPLVEEPPADQWKWPI

• Structural information:
  • Interpro: IPR006806  
  • PDB: 5XTB 5XTD 5XTH 5XTI
  • PDBsum: 5XTB 5XTD 5XTH 5XTI
  • STRING: ENSP00000417142
• Other Databases: GeneCards:  NDUFA5  Malacards:  NDUFA5

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0022904	respiratory electron transport chain	IBA	biological process
GO:0008137	NADH dehydrogenase (ubiquinone) activity	IBA	molecular function
GO:0005747	mitochondrial respiratory chain complex I	IBA	cellular component
GO:0005747	mitochondrial respiratory chain complex I	IDA	cellular component
GO:0005747	mitochondrial respiratory chain complex I	IDA	cellular component
GO:0032981	mitochondrial respiratory chain complex I assembly	IMP	biological process
GO:0022904	respiratory electron transport chain	IEA	biological process
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0005739	mitochondrion	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005743	mitochondrial inner membrane	IEA	cellular component
GO:0070469	respirasome	IEA	cellular component
GO:0008137	NADH dehydrogenase (ubiquinone) activity	TAS	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: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:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0032991	protein-containing complex	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0045271	respiratory chain complex I	IEA	cellular component
GO:0022904	respiratory electron transport chain	IEA	biological process
GO:0008137	NADH dehydrogenase (ubiquinone) activity	IEA	molecular function
GO:0005743	mitochondrial inner 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
hsa04932	Non-alcoholic fatty liver disease

Diseases

Associated diseases	References
Alzheimer's disease	PMID:19760337
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881