InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: SURF1

Summary

InnateDB Protein

IDBP-91212.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

SURF1

Protein Name

surfeit 1

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000361042

InnateDB Gene

IDBG-91210 (SURF1)

Protein Structure

UniProt Annotation

Function

Probably involved in the biogenesis of the COX complex.

Subcellular Localization

Mitochondrion inner membrane {ECO:0000250}; Multi-pass membrane protein {ECO:0000250}.

Disease Associations

Leigh syndrome (LS) [MIM:256000]: An early-onset progressive neurodegenerative disorder characterized by the presence of focal, bilateral lesions in one or more areas of the central nervous system including the brainstem, thalamus, basal ganglia, cerebellum and spinal cord. Clinical features depend on which areas of the central nervous system are involved and include subacute onset of psychomotor retardation, hypotonia, ataxia, weakness, vision loss, eye movement abnormalities, seizures, and dysphagia. {ECO:0000269PubMed:10647889, ECO:0000269PubMed:10746561, ECO:0000269PubMed:14564068, ECO:0000269PubMed:21937992, ECO:0000269PubMed:22410471, ECO:0000269PubMed:22488715, ECO:0000269PubMed:9843204}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 19 experimentally validated interaction(s) in this database.

Experimentally validated
Total	19 [view]
Protein-Protein	19 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0004129	cytochrome-c oxidase activity
GO:0005515	protein binding

Biological Process

GO:0006119	oxidative phosphorylation
GO:0006754	ATP biosynthetic process
GO:0008535	respiratory chain complex IV assembly
GO:0009060	aerobic respiration
GO:0055114	oxidation-reduction process
GO:1902600	hydrogen ion transmembrane transport