• Gene id: 4714

Gene Summary

• Gene Symbol: NDUFB8   Gene   UCSC   Ensembl
• Aliases: ASHI, CI-ASHI, MC1DN32
• Gene name: NADH:ubiquinone oxidoreductase subunit B8
• Alternate names: NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 8, mitochondrial, NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 8, 19kDa, NADH:ubiquinone oxidoreductase ASHI subunit, complex I ASHI subunit, complex I-ASHI,
• Gene location: 10q24.31 (22372640: 21412217)     Exons: 20     NC_000003.12
• OMIM: 602140

Protein Summary

• Protein general information: O95169  
  • Name: NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 8, mitochondrial (Complex I ASHI) (CI ASHI) (NADH ubiquinone oxidoreductase ASHI subunit)
  • Length: 186  
  • Mass: 21766
• Sequence:

  MAVARAGVLGVQWLQRASRNVMPLGARTASHMTKDMFPGPYPRTPEERAAAAKKYNMRVEDYEPYPDDGMGYGDY
  PKLPDRSQHERDPWYSWDQPGLRLNWGEPMHWHLDMYNRNRVDTSPTPVSWHVMCMQLFGFLAFMIFMCWVGDVY
  PVYQPVGPKQYPYNNLYLERGGDPSKEPERVVHYEI

• Structural information:
  • Interpro: IPR008699  IPR016551  
  • PDB: 5XTC 5XTD 5XTH 5XTI
  • PDBsum: 5XTC 5XTD 5XTH 5XTI
  • STRING: ENSP00000299166
• Other Databases: GeneCards:  NDUFB8  Malacards:  NDUFB8

Gene ontology

GO accession	Term name	Evidence code	Go category
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:0006120	mitochondrial electron transport, NADH to ubiquinone	IEA	biological process
GO:0003954	NADH dehydrogenase activity	IEA	molecular function
GO:0005739	mitochondrion	IEA	cellular component
GO:0005747	mitochondrial respiratory chain complex I	IEA	cellular component
GO:0008137	NADH dehydrogenase (ubiquinone) activity	IEA	molecular function
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0070469	respirasome	IEA	cellular component
GO:0005743	mitochondrial inner membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0016020	membrane	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:0005743	mitochondrial inner membrane	TAS	cellular component
GO:0005743	mitochondrial inner membrane	TAS	cellular component
GO:0005743	mitochondrial inner membrane	TAS	cellular component
GO:0005759	mitochondrial matrix	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:0005783	endoplasmic reticulum	IDA	cellular component
GO:0005743	mitochondrial inner membrane	IEA	cellular component
GO:0005747	mitochondrial respiratory chain complex I	IMP	cellular component
GO:0008137	NADH dehydrogenase (ubiquinone) activity	NAS	molecular function
GO:0005747	mitochondrial respiratory chain complex I	NAS	cellular component
GO:0006120	mitochondrial electron transport, NADH to ubiquinone	NAS	biological process

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:14570706
Parkinson's disease	PMID:26605748
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