• Gene id: 6834

Gene Summary

• Gene Symbol: SURF1   Gene   UCSC   Ensembl
• Aliases: CMT4K
• Gene name: SURF1 cytochrome c oxidase assembly factor
• Alternate names: surfeit locus protein 1, surfeit 1,
• Gene location: 9q34.2 (133356486: 133351757)     Exons: 9     NC_000009.12
• Gene summary(Entrez): This gene encodes a protein localized to the inner mitochondrial membrane and thought to be involved in the biogenesis of the cytochrome c oxidase complex. The protein is a member of the SURF1 family, which includes the related yeast protein SHY1 and rick
• OMIM: 185620

Protein Summary

• Protein general information: Q15526  
  • Name: Surfeit locus protein 1
  • Length: 300  
  • Mass: 33331
• Sequence:

  MAAVAALQLGLRAAGLGRAPASAAWRSVLRVSPRPGVAWRPSRCGSSAAEASATKAEDDSFLQWVLLLIPVTAFG
  LGTWQVQRRKWKLNLIAELESRVLAEPVPLPADPMELKNLEYRPVKVRGCFDHSKELYMMPRTMVDPVREAREGG
  LISSSTQSGAYVVTPFHCTDLGVTILVNRGFVPRKKVNPETRQKGQIEGEVDLIGMVRLTETRQPFVPENNPERN
  HWHYRDLEAMARITGAEPIFIDANFQSTVPGGPIGGQTRVTLRNEHLQYIVTWYGLSAATSYLWFKKFLRGTPGV

• Structural information:
  • Interpro: IPR002994  
  • Prosite: PS50895
  • CDD: cd06662
  • STRING: ENSP00000361042
• Other Databases: GeneCards:  SURF1  Malacards:  SURF1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005515	protein binding	IPI	molecular function
GO:0033617	mitochondrial cytochrome c oxidase assembly	IMP	biological process
GO:0016020	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	IEA	cellular component
GO:0004129	cytochrome-c oxidase activity	TAS	molecular function
GO:0005746	mitochondrial respirasome	TAS	cellular component
GO:0008535	respiratory chain complex IV assembly	TAS	biological process
GO:0009060	aerobic respiration	TAS	biological process
GO:0055114	oxidation-reduction process	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0004129	cytochrome-c oxidase activity	IEA	molecular function
GO:0006119	oxidative phosphorylation	IMP	biological process
GO:0005743	mitochondrial inner membrane	IEA	cellular component
GO:1902600	proton transmembrane transport	IEA	biological process
GO:1902600	proton transmembrane transport	IEA	biological process
GO:0022900	electron transport chain	IEA	biological process
GO:0022900	electron transport chain	IEA	biological process

Diseases

Associated diseases	References
Charcot-Marie-Tooth disease	KEGG:H00264
Leigh syndrome	KEGG:H01354
Charcot-Marie-Tooth disease	KEGG:H00264
Leigh syndrome	KEGG:H01354
Leigh disease	PMID:9843204
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

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
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq