dentate gyrus of hippocampal formation granule cell
yolk sac
transitional epithelium of urinary bladder
right kidney
primary visual cortex
More reference expression data
BioGPS
More reference expression data
Gene ontology
Molecular function
cytochrome-c oxidase activity
protein binding
Cellular component
integral component of membrane
mitochondrial inner membrane
mitochondrion
membrane
mitochondrial respirasome
Biological process
proton transmembrane transport
aerobic respiration
oxidative phosphorylation
ATP biosynthetic process
respiratory chain complex IV assembly
mitochondrial cytochrome c oxidase assembly
electron transport chain
Sources:Amigo / QuickGO
Orthologs
Species
Human
Mouse
Entrez
6834
20930
Ensembl
ENSG00000148290 ENSG00000280627
ENSMUSG00000015790
UniProt
Q15526
P09925
RefSeq (mRNA)
NM_001280787 NM_003172
NM_001271724 NM_013677
RefSeq (protein)
NP_001267716 NP_003163
NP_001258653 NP_038705
Location (UCSC)
Chr 9: 133.35 – 133.36 Mb
Chr 2: 26.8 – 26.81 Mb
PubMed search
[3]
[4]
Wikidata
View/Edit Human
View/Edit Mouse
Surfeit locus protein 1 (SURF1) is a protein that in humans is encoded by the SURF1 gene.[5][6] The protein encoded by SURF1 is a component of the mitochondrial translation regulation assembly intermediate of cytochrome c oxidase complex (MITRAC complex), which is involved in the regulation of cytochrome c oxidase assembly.[7][8] Defects in this gene are a cause of Leigh syndrome, a severe neurological disorder that is commonly associated with systemic cytochrome c oxidase (complex IV) deficiency, and Charcot-Marie-Tooth disease 4K (CMT4K).[9][10]
^ abcGRCm38: Ensembl release 89: ENSMUSG00000015790 – Ensembl, May 2017
^"Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^"Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^Yon J, Jones T, Garson K, Sheer D, Fried M (March 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". Human Molecular Genetics. 2 (3): 237–40. doi:10.1093/hmg/2.3.237. PMID 8499913.
^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 (December 1998). "SURF1, encoding a factor involved in the biogenesis of cytochrome c oxidase, is mutated in Leigh syndrome". Nature Genetics. 20 (4): 337–43. doi:10.1038/3804. PMID 9843204. S2CID 12584110.
^"SURF1 - Surfeit locus protein 1 - Homo sapiens (Human) - SURF1 gene & protein". www.uniprot.org. Retrieved 2018-08-07. This article incorporates text available under the CC BY 4.0 license.
^"UniProt: the universal protein knowledgebase". Nucleic Acids Research. 45 (D1): D158–D169. January 2017. doi:10.1093/nar/gkw1099. PMC 5210571. PMID 27899622.
^"Entrez Gene: SURF1 surfeit 1". This article incorporates text from this source, which is in the public domain.
^Echaniz-Laguna A, Ghezzi D, Chassagne M, Mayençon M, Padet S, Melchionda L, Rouvet I, Lannes B, Bozon D, Latour P, Zeviani M, Mousson de Camaret B (October 2013). "SURF1 deficiency causes demyelinating Charcot-Marie-Tooth disease". Neurology. 81 (17): 1523–30. doi:10.1212/WNL.0b013e3182a4a518. PMC 3888171. PMID 24027061.
Surfeit locus protein 1 (SURF1) is a protein that in humans is encoded by the SURF1 gene. The protein encoded by SURF1 is a component of the mitochondrial...
mutations in the nuclear gene SURF1. Mutations in mitochondrial DNA (mtDNA) and over 30 genes in nuclear DNA (gene SURF1 and some COX assembly factors)...
share sequence similarity. Genes in this cluster are numbered 1 through 6: SURF1, SURF2, SURF3, SURF4, SURF5, and SURF6. Duhig T, Ruhrberg C, Mor O, Fried...
Currently, mutations have been identified in seven COX assembly factors: SURF1, SCO1, SCO2, COX10, COX15, COX20, COA5 and LRPPRC. Mutations in these proteins...
bidirectional promoter with SURF1 on the opposite strand. A bidirectional promoter activity is expected in the intergenic region between SURF1 and SURF2, as seen...
fibroblast cultures from patients carrying mutations in COX10, SCO1, or SURF1". The Journal of Biological Chemistry. 279 (9): 7462–9. doi:10.1074/jbc...
addition, it has interactions with proteins such as MT-CO1, COX1, SMIM20, SURF1, TIMM21, and others. GRCh38: Ensembl release 89: ENSG00000183978 – Ensembl...
fibroblast cultures from patients carrying mutations in COX10, SCO1, or SURF1". The Journal of Biological Chemistry. 279 (9): 7462–9. doi:10.1074/jbc...
"Tissue-specific cytochrome c oxidase assembly defects due to mutations in SCO2 and SURF1". The Biochemical Journal. 392 (Pt 3): 625–32. doi:10.1042/BJ20050807. PMC 1316303...
fibroblast cultures from patients carrying mutations in COX10, SCO1, or SURF1". The Journal of Biological Chemistry. 279 (9): 7462–9. doi:10.1074/jbc...
Global Information
This article incorporates text available under the CC BY 4.0 license.
This article incorporates text from this source, which is in the public domain.
