• Gene id: 4694

Gene Summary

• Gene Symbol: NDUFA1   Gene   UCSC   Ensembl
• Aliases: CI-MWFE, MC1DN12, MWFE, ZNF183
• Gene name: NADH:ubiquinone oxidoreductase subunit A1
• Alternate names: NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 1, NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 1, 7.5kDa, NADH-ubiquinone oxidoreductase MWFE subunit, NADH:ubiquinone oxidoreductase (complex 1), complex I MWFE subunit, type I dehydrogenase,
• Gene location: Xq24 (117986393: 118003036)     Exons: 8     NC_000011.10
• Gene summary(Entrez): The human NDUFA1 gene codes for an essential component of complex I of the respiratory chain, which transfers electrons from NADH to ubiquinone. It has been noted that the N-terminal hydrophobic domain has the potential to be folded into an alpha-helix sp
• OMIM: 300078

Protein Summary

• Protein general information: O15239  
  • Name: NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 1 (Complex I MWFE) (CI MWFE) (NADH ubiquinone oxidoreductase MWFE subunit)
  • Length: 70  
  • Mass: 8072
  • Tissue specificity: Primarily expressed in heart and skeletal muscle.
• Sequence:

  MWFEILPGLSVMGVCLLIPGLATAYIHRFTNGGKEKRVAHFGYHWSLMERDRRISGVDRYYVSKGLENID

• Structural information:
  • Interpro: IPR017384  
  • PDB: 5XTC 5XTD 5XTH 5XTI
  • PDBsum: 5XTC 5XTD 5XTH 5XTI
  • STRING: ENSP00000360492
• Other Databases: GeneCards:  NDUFA1  Malacards:  NDUFA1

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:0055114	oxidation-reduction process	IEA	biological process
GO:0005743	mitochondrial inner membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0070469	respirasome	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0008137	NADH dehydrogenase (ubiquinone) activity	TAS	molecular function
GO:0005739	mitochondrion	IDA	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:0032981	mitochondrial respiratory chain complex I assembly	TAS	biological process
GO:0006120	mitochondrial electron transport, NADH to ubiquinone	TAS	biological process
GO:0005743	mitochondrial inner membrane	IEA	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0031966	mitochondrial membrane	IDA	cellular component
GO:0005747	mitochondrial respiratory chain complex I	IDA	cellular component
GO:0005747	mitochondrial respiratory chain complex I	NAS	cellular component
GO:0008137	NADH dehydrogenase (ubiquinone) activity	NAS	molecular function
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
Mitochondrial complex I deficiency	KEGG:H00473
Mitochondrial complex I deficiency	KEGG:H00473
Male factor infertility	MIK: 29961538
Spermatogenic defects	MIK: 31037746
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)
29961538	Male factor infertility			318 (128 couples presenting with OAT (MF) and 118 maternal age-matched control (no MF) subjects undergoing infertility treatment, 72 surplus cryopreserved blastocysts)	Male infertility	RNA-seq
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray