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MIRAGE
Surfeit locus protein 1
Summary
- UniProt ID
- Q15526
- Gene Symbol
-
- SURF-1
- SURF1
- Gene ID
- 6834
- Organism
- Homo sapiens (human)
Annotation
- Keyword
-
- Alternative splicing
- Charcot-Marie-Tooth disease
- Disease variant
- Leigh syndrome
- Mitochondrion inner membrane
- Neurodegeneration
- Reference proteome
- Transmembrane helix
- Gene Ontology (GO)
| GO Term |
|---|
| respiratory chain complex |
| mitochondrion |
| mitochondrial inner membrane |
| GO Term |
|---|
| respiratory chain complex IV assembly |
| aerobic respiration |
| mitochondrial cytochrome c oxidase assembly |
| GO Term |
|---|
| cytochrome-c oxidase activity |
Sequence
MAAVAALQLGLRAAGLGRAPASAAWRSVLRVSPRPGVAWRPSRCGSSAAEASATKAEDDSFLQWVLLLIPVTAFGLGTWQVQRRKWKLNLIAELESRVLAEPVPLPADPMELKNLEYRPVKVRGCFDHSKELYMMPRTMVDPVREAREGGLISSSTQSGAYVVTPFHCTDLGVTILVNRGFVPRKKVNPETRQKGQIEGEVDLIGMVRLTETRQPFVPENNPERNHWHYRDLEAMARITGAEPIFIDANFQSTVPGGPIGGQTRVTLRNEHLQYIVTWYGLSAATSYLWFKKFLRGTPGV
Glycosylation Sites
| Position | Description | PubMed ID | GlyTouCan ID | Source |
|---|---|---|---|---|
| 266 |
|
G49108TO
Feature
: Glycosylation Site from GlyGen
: Glycosylation Site from UniProt
Pathway
| Pathway Name | Organism |
|---|---|
| Complex IV assembly | Homo sapiens |
Disease
| DO ID | Disease Name | Source |
|---|---|---|
| DOID:0070491 | mitochondrial complex IV deficiency nuclear type 1 | |
| DOID:0110187 | Charcot-Marie-Tooth disease type 4K | |
| DOID:3652 | Leigh disease |
