Manual transfer of experimentally-verified manual GO annotation data to orthologs by curator judgment of sequence similarity
Annotation inferences using phylogenetic trees
Electronic Gene Ontology annotations created by transferring manual GO annotations between related proteins based on shared sequence features
Combined Automated Annotation using Multiple IEA Methods
Mutations in mitochondrial carrier family gene SLC25A38 cause nonsyndromic autosomal recessive congenital sideroblastic anemia.
-
Positional cloning identified biallelic SLC25A38 mutations as the cause of a nonsyndromic autosomal recessive congenital sideroblastic anemia, establishing that the erythroid-specific mitochondrial carrier SLC25A38 is important for heme biosynthesis in eukaryotes.
"define a previously unknown form of autosomal recessive nonsyndromic congenital sideroblastic anemia, associated with mutations in the gene encoding the erythroid specific mitochondrial carrier family protein SLC25A38, and demonstrate that SLC25A38 is important for the biosynthesis of heme in eukaryotes."
Characterization of Human and Yeast Mitochondrial Glycine Carriers with Implications for Heme Biosynthesis and Anemia.
-
Biochemical characterization of reconstituted human SLC25A38 and yeast Hem25p identified them as mitochondrial glycine carriers; hem25Δ shows reduced ALA, heme and cytochromes, rescued by human SLC25A38, providing definitive evidence of the glycine transport function required for heme synthesis.
"Hem25p and its human orthologue SLC25A38 are the main mitochondrial glycine transporters required for heme synthesis, providing definitive evidence of their previously proposed glycine transport function."
Quantitative high-confidence human mitochondrial proteome and its dynamics in cellular context.