Gene Ontology annotation through association of InterPro records with GO terms
Annotation inferences using phylogenetic trees
Gene Ontology annotation based on curation of immunofluorescence data
Electronic Gene Ontology annotations created by ARBA machine learning models
Combined Automated Annotation using Multiple IEA Methods
A proteome-scale map of the human interactome network.
Mutations in SLC25A46, encoding a UGO1-like protein, cause an optic atrophy spectrum disorder.
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SLC25A46 is a modified/derived SLC25 carrier recruited to the outer mitochondrial membrane where it interacts with mitofilin and acts as a pro-fission regulator of mitochondrial dynamics; loss of function causes optic atrophy and CMT2.
"SLC25A46 acts in a pro-fission manner"
SLC25A46 is required for mitochondrial lipid homeostasis and cristae maintenance and is responsible for Leigh syndrome.
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SLC25A46 interacts with MFN2, OPA1, the MICOS complex and the EMC, functions upstream of MICOS to maintain cristae, and its loss alters phospholipid composition and impairs respiration; the carrier signature residues are not conserved, indicating it is not a conventional transporter.
"it does not likely have a conventional metabolite carrier function"
Loss of function of SLC25A46 causes lethal congenital pontocerebellar hypoplasia.
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Confirms SLC25A46 as a pro-fission outer-membrane protein; biallelic destabilizing mutations cause lethal congenital pontocerebellar hypoplasia, with severity inversely correlated with mutant-protein stability.
"SLC25A46 is a pro-fission mitochondrial outer membrane protein important in the regulation of mitochondrial dynamics"
A reference map of the human binary protein interactome.
Quantitative high-confidence human mitochondrial proteome and its dynamics in cellular context.