• Gene id: 54539

Gene Summary

• Gene Symbol: NDUFB11   Gene   UCSC   Ensembl
• Aliases: CI-ESSS, ESSS, MC1DN30, NP17.3, Np15, P17.3
• Gene name: NADH:ubiquinone oxidoreductase subunit B11
• Alternate names: NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 11, mitochondrial, NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 11, 17.3kDa, NADH-ubiquinone oxidoreductase ESSS subunit, complex I NP17.3 subunit, complex I-ESSS, neuronal protein 17.3,
• Gene location: Xp11.3 (47145209: 47142215)     Exons: 3     NC_000023.11
• Gene summary(Entrez): The protein encoded by this gene is a subunit of the multisubunit NADH:ubiquinone oxidoreductase (complex I). Mammalian complex I is located at the mitochondrial inner membrane. This protein has NADH dehydrogenase activity and oxidoreductase activity. It
• OMIM: 300403

Protein Summary

• Protein general information: Q9NX14  
  • Name: NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 11, mitochondrial (Complex I ESSS) (CI ESSS) (NADH ubiquinone oxidoreductase ESSS subunit) (Neuronal protein 17.3) (Np17.3) (p17.3)
  • Length: 153  
  • Mass: 17317
  • Tissue specificity: Ubiquitous.
• Sequence:

  MAAGLFGLSARRLLAAAATRGLPAARVRWESSFSRTVVAPSAVAGKRPPEPTTPWQEDPEPEDENLYEKNPDSHG
  YDKDPVLDVWNMRLVFFFGVSIILVLGSTFVAYLPDYRMKEWSRREAERLVKYREANGLPIMESNCFDPSKIQLP
  EDE

• Structural information:
  • Interpro: IPR019329  
  • PDB: 5XTC 5XTD 5XTH 5XTI
  • PDBsum: 5XTC 5XTD 5XTH 5XTI
  • STRING: ENSP00000276062
• Other Databases: GeneCards:  NDUFB11  Malacards:  NDUFB11

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:0070469	respirasome	IEA	cellular component
GO:0005743	mitochondrial inner membrane	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0016021	integral component of membrane	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: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: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:0005743	mitochondrial inner membrane	IEA	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
Microphthalmia with linear skin defects syndrome	KEGG:H01904
Microphthalmia with linear skin defects syndrome	KEGG:H01904
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
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
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray