• Gene id: 55245

Gene Summary

• Gene Symbol: UQCC1   Gene   UCSC   Ensembl
• Aliases: BFZB, C20orf44, CBP3, UQCC
• Gene name: ubiquinol-cytochrome c reductase complex assembly factor 1
• Alternate names: ubiquinol-cytochrome-c reductase complex assembly factor 1, bFGF-repressed Zic-binding protein, basic FGF-repressed Zic-binding protein, cytochrome B protein synthesis 3 homolog, ubiquinol-cytochrome c reductase complex chaperone CBP3 homolog,
• Gene location: 20q11.22 (35412141: 35302565)     Exons: 12     NC_000020.11
• Gene summary(Entrez): This gene encodes a transmembrane protein that is structurally similar to the mouse basic fibroblast growth factor repressed ZIC-binding protein. In mouse this protein may be involved in fibroblast growth factor regulated growth control. In humans, polymo
• OMIM: 611797

Protein Summary

• Protein general information: Q9NVA1  
  • Name: Ubiquinol cytochrome c reductase complex assembly factor 1 (Basic FGF repressed Zic binding protein) (bFGF repressed Zic binding protein) (bFZb) (Ubiquinol cytochrome c reductase complex chaperone CBP3 homolog)
  • Length: 299  
  • Mass: 34600
• Sequence:

  MALLVRVLRNQTSISQWVPVCSRLIPVSPTQGQGDRALSRTSQWPQMSQSRACGGSEQIPGIDIQLNRKYHTTRK
  LSTTKDSPQPVEEKVGAFTKIIEAMGFTGPLKYSKWKIKIAALRMYTSCVEKTDFEEFFLRCQMPDTFNSWFLIT
  LLHVWMCLVRMKQEGRSGKYMCRIIVHFMWEDVQQRGRVMGVNPYILKKNMILMTNHFYAAILGYDEGILSDDHG
  LAAALWRTFFNRKCEDPRHLELLVEYVRKQIQYLDSMNGEDLLLTGEVSWRPLVEKNPQSILKPHSPTYNDEGL

• Structural information:
  • Interpro: IPR021150  IPR007129  
  • STRING: ENSP00000363506
• Other Databases: GeneCards:  UQCC1  Malacards:  UQCC1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0034551	mitochondrial respiratory chain complex III assembly	IBA	biological process
GO:0070131	positive regulation of mitochondrial translation	IBA	biological process
GO:0034551	mitochondrial respiratory chain complex III assembly	IDA	biological process
GO:0005743	mitochondrial inner membrane	IDA	cellular component
GO:0070131	positive regulation of mitochondrial translation	IDA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0031410	cytoplasmic vesicle	IEA	cellular component
GO:0005743	mitochondrial inner membrane	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0031410	cytoplasmic vesicle	IEA	cellular component
GO:0005743	mitochondrial inner membrane	IEA	cellular component

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
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)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq