SURF1

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Surfeit 1
Identifiers
Symbol SURF1
External IDs OMIM185620 MGI98443 HomoloGene2387 GeneCards: SURF1 Gene
EC number 1.9.3.1
RNA expression pattern
PBB GE SURF1 204295 at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 6834 20930
Ensembl ENSG00000148290 ENSMUSG00000015790
UniProt Q15526 P09925
RefSeq (mRNA) NM_003172 NM_001271724
RefSeq (protein) NP_003163 NP_001258653
Location (UCSC) Chr 9:
136.22 – 136.22 Mb
Chr 2:
26.91 – 26.92 Mb
PubMed search [1] [2]

Surfeit locus protein 1 is a protein that in humans is encoded by the SURF1 gene.[1][2][3]

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 rickettsial protein RP733. The gene is located in the surfeit gene cluster, a group of very tightly linked genes that do not share sequence similarity, where it shares a bidirectional promoter with SURF2 on the opposite strand. Defects in this gene are a cause of Leigh syndrome, a severe neurological disorder that is commonly associated with systemic cytochrome c oxidase deficiency.[3]

References[edit]

  1. ^ Yon J, Jones T, Garson K, Sheer D, Fried M (Jun 1993). "The organization and conservation of the human Surfeit gene cluster and its localization telomeric to the c-abl and can proto-oncogenes at chromosome band 9q34.1". Hum Mol Genet 2 (3): 237–40. doi:10.1093/hmg/2.3.237. PMID 8499913. 
  2. ^ Zhu Z, Yao J, Johns T, Fu K, De Bie I, Macmillan C, Cuthbert AP, Newbold RF, Wang J, Chevrette M, Brown GK, Brown RM, Shoubridge EA (Dec 1998). "SURF1, encoding a factor involved in the biogenesis of cytochrome c oxidase, is mutated in Leigh syndrome". Nat Genet 20 (4): 337–43. doi:10.1038/3804. PMID 9843204. 
  3. ^ a b "Entrez Gene: SURF1 surfeit 1". 

Further reading[edit]