• Gene id: 4702

Gene Summary

• Gene Symbol: NDUFA8   Gene   UCSC   Ensembl
• Aliases: CI-19KD, CI-PGIV, PGIV
• Gene name: NADH:ubiquinone oxidoreductase subunit A8
• Alternate names: NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 8, NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 8, 19kDa, NADH-ubiquinone oxidoreductase 19 kDa subunit, NADH:ubiquinone oxidoreductase PGIV subunit, complex I-19kD, complex I-PGIV,
• Gene location: 9q33.2 (122159778: 122132465)     Exons: 5     NC_000009.12
• Gene summary(Entrez): The protein encoded by this gene belongs to the complex I 19 kDa subunit family. Mammalian complex I is composed of 45 different subunits. This protein has NADH dehydrogenase activity and oxidoreductase activity. It plays an important role in transfering
• OMIM: 603359

Protein Summary

• Protein general information: P51970  
  • Name: NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 8 (Complex I 19kD) (CI 19kD) (Complex I PGIV) (CI PGIV) (NADH ubiquinone oxidoreductase 19 kDa subunit)
  • Length: 172  
  • Mass: 20105
• Sequence:

  MPGIVELPTLEELKVDEVKISSAVLKAAAHHYGAQCDKPNKEFMLCRWEEKDPRRCLEEGKLVNKCALDFFRQIK
  RHCAEPFTEYWTCIDYTGQQLFRHCRKQQAKFDECVLDKLGWVRPDLGELSKVTKVKTDRPLPENPYHSRPRPDP
  SPEIEGDLQPATHGSRFYFWTK

• Structural information:
  • Protein Domains: (33..7-)
    (/note="CHCH-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU01150-)
    (75..11-)
    (/note="CHCH-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU01150"-)
  • Interpro: IPR010625  IPR016680  
  • Prosite: PS51808
  • PDB: 5XTC 5XTD 5XTH 5XTI
  • PDBsum: 5XTC 5XTD 5XTH 5XTI
  • STRING: ENSP00000362873
• Other Databases: GeneCards:  NDUFA8  Malacards:  NDUFA8

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:0005739	mitochondrion	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:0055114	oxidation-reduction process	IEA	biological process
GO:0005739	mitochondrion	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0070469	respirasome	IEA	cellular component
GO:0005743	mitochondrial inner membrane	IEA	cellular component
GO:0008137	NADH dehydrogenase (ubiquinone) activity	TAS	molecular function
GO:0044877	protein-containing complex binding	IDA	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:0005758	mitochondrial intermembrane space	IEA	cellular component
GO:0005743	mitochondrial inner membrane	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:0005758	mitochondrial intermembrane space	IDA	cellular component
GO:0006120	mitochondrial electron transport, NADH to ubiquinone	NAS	biological process
GO:0005747	mitochondrial respiratory chain complex I	NAS	cellular component
GO:0008137	NADH dehydrogenase (ubiquinone) activity	NAS	molecular function

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
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583
Spermatogenic defects	MIK: 31037746

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)
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R