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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. [provided by RefSeq, Jul 2008]
SURF1 (SURF1 Cytochrome C Oxidase Assembly Factor) is a Protein Coding gene. Diseases associated with SURF1 include Charcot-Marie-Tooth Disease, Type 4K and Mitochondrial Complex Iv Deficiency, Nuclear Type 1. Among its related pathways are Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. and Gene Expression. Gene Ontology (GO) annotations related to this gene include cytochrome-c oxidase activity. An important paralog of this gene is SURF4.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0004129 | cytochrome-c oxidase activity | TAS,IEA | -- |
GO:0005515 | protein binding | IPI | 23260140 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005739 | mitochondrion | IEA | -- |
GO:0005743 | mitochondrial inner membrane | IEA | -- |
GO:0005746 | mitochondrial respiratory chain | TAS | 9843204 |
GO:0016020 | membrane | IEA | -- |
GO:0016021 | integral component of membrane | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. | ||
2 | Gene Expression |
.48
|
|
3 | Metabolism |
.40
|
|
4 | TP53 Regulates Metabolic Genes | ||
5 | Regulation of TP53 Activity |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006119 | oxidative phosphorylation | IMP | 20888800 |
GO:0008535 | respiratory chain complex IV assembly | TAS | 9843204 |
GO:0009060 | aerobic respiration | TAS | 9843204 |
GO:0022900 | electron transport chain | IEA | -- |
GO:0033617 | mitochondrial respiratory chain complex IV assembly | IMP | 24027061 |
ExUns: | 1 | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5a | · | 5b | ^ | 6 | ^ | 7a | · | 7b | ^ | 8a | · | 8b | ^ | 9 | ^ | 10a | · | 10b |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | ||||||||||||||||||||||||||
SP2: | |||||||||||||||||||||||||||
SP3: | - | - | |||||||||||||||||||||||||
SP4: |
This gene was present in the common ancestor of eukaryotes.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | SURF1 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | SURF1 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | SURF1 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Surf1 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Surf1 30 17 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | SURF1 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | SURF1 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | SURF1 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | SURF1 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | surf1 30 |
|
||
African clawed frog (Xenopus laevis) |
Amphibia | Xl.23733 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | surf1 30 31 |
|
OneToOne | |
Dr.14568 30 |
|
||||
Rainbow Trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.7095 30 |
|
||
Fruit Fly (Drosophila melanogaster) |
Insecta | Surf1 30 31 32 |
|
OneToOne | |
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP006533 30 |
|
||
Worm (Caenorhabditis elegans) |
Secernentea | sft-1 30 31 32 |
|
OneToOne | |
Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | SHY1 31 33 |
|
OneToOne | |
Thale Cress (Arabidopsis thaliana) |
eudicotyledons | SURF1 30 |
|
||
Rice (Oryza sativa) |
Liliopsida | Os03g0200700 30 |
|
SNP ID | Clinical significance and condition | Chr 09 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
847261 | Uncertain Significance: Leigh syndrome | 133,353,825(-) |
G/A NM_003172.4(SURF1):c.439C>T (p.Arg147Trp) |
MISSENSE | |
847821 | Pathogenic: Leigh syndrome | 133,352,725(-) |
TTC/T NM_003172.4(SURF1):c.555_556del (p.Lys186fs) |
FRAMESHIFT | |
854292 | Uncertain Significance: Leigh syndrome | 133,352,090(-) |
C/G NM_003172.4(SURF1):c.804G>C (p.Arg268Ser) |
MISSENSE | |
856179 | Uncertain Significance: Leigh syndrome | 133,352,606(-) |
A/T NM_003172.4(SURF1):c.591T>A (p.Ile197=) |
SYNONYMOUS | |
864330 | Uncertain Significance: Leigh syndrome | 133,354,731(-) |
C/G NM_003172.4(SURF1):c.251G>C (p.Arg84Pro) |
MISSENSE_VARIANT,FIVE_PRIME_UTR |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv2739138 | CNV | deletion | 23290073 |
nsv1125319 | OTHER | inversion | 24896259 |
Disorder | Aliases | PubMed IDs |
---|---|---|
charcot-marie-tooth disease, type 4k |
|
|
mitochondrial complex iv deficiency, nuclear type 1 |
|
|
leigh syndrome |
|
|
polyglucosan body myopathy 1 with or without immunodeficiency |
|
|
leigh syndrome with cardiomyopathy |
|
|