Gene Ontology annotation through association of InterPro records with GO terms
Annotation inferences using phylogenetic trees
Gene Ontology annotation based on UniProtKB/Swiss-Prot Subcellular Location vocabulary mapping, accompanied by conservative changes to GO terms applied by UniProt
Automatic transfer of experimentally verified manual GO annotation data to orthologs using Ensembl Compara
Automatic assignment of GO terms using logical inference, based on on inter-ontology links
MITRAC links mitochondrial protein translocation to respiratory-chain assembly and translational regulation.
-
SURF1 is a component of early cytochrome c oxidase assembly intermediates termed MITRAC complexes, which link mitochondrial protein translocation to respiratory chain assembly.
"we report a comprehensive dissection of early cytochrome c oxidase assembly intermediates containing proteins required for normal mitochondrial translation and reveal assembly factors promoting biogenesis of human respiratory-chain complexes"
SURF1 deficiency causes demyelinating Charcot-Marie-Tooth disease.
-
SURF1 mutations cause impaired Complex IV assembly and activity, leading to both Leigh syndrome and CMT4K. The c.107-2A>G mutation leads to SURF1 absence, and complex IV remains partially functional but reduced.
"The c.107-2A>G mutation produced no normally spliced transcript, leading to SURF1 absence. However, complex IV remained partially functional in muscle and fibroblasts."
MITRAC7 Acts as a COX1-Specific Chaperone and Reveals a Checkpoint during Cytochrome c Oxidase Assembly.
-
SURF1 is part of the MITRAC complex that represents the central assembly intermediate for cytochrome c oxidase. SURF1 interacts with COA3, MITRAC7/SMIM20, and COX1 within this complex.
"The MITRAC complex represents the central assembly intermediate during this process as it receives imported subunits and regulates mitochondrial translation of COX1 mRNA."
Quantitative high-confidence human mitochondrial proteome and its dynamics in cellular context.
-
SURF1 was identified as part of the high-confidence human mitochondrial proteome by quantitative mass spectrometry.
"Quantitative high-confidence human mitochondrial proteome and its dynamics in cellular context."
SURF1, encoding a factor involved in the biogenesis of cytochrome c oxidase, is mutated in Leigh syndrome.
-
Founding paper identifying SURF1 as a factor in COX biogenesis. Multiple SURF1 mutations identified in Leigh syndrome patients, all predicting truncated protein. Established SURF1 as required for COX assembly.
"These data suggest a role for SURF1 in the biogenesis of the COX complex and define a new class of gene defects causing human neurodegenerative disease."
Nascent MT-CO1 binds to MITRAC, Mg2+, PE, CL
-
SURF1 is listed as a subunit of the MITRAC complex alongside CMC1, COX14, COA1, COA3, and SMIM20 in the step where nascent MT-CO1 binds to MITRAC.
"SMIM20 (C4orf52, MITRAC7), and SURF1 (Zhu et al., 1998; Dennerlein et al., 2015)."
TIMM21 carries COX4, COX5A, COX6C to MT-CO1:MITRAC
-
SURF1 is part of the MT-CO1:MITRAC complex that receives imported COX subunits carried by TIMM21 across the inner membrane.
"COX5A and COX6C across the inner membrane, where they bind to the MT-CO1:MITRAC complex"
Metallochaperone inserts Cu2+ into MT-CO1
MT-CO1 and MT-CO2 complexes associate, installing heme moieties
-
Reactome notes that SURF1 may act as an additional chaperone for heme insertion, with evidence from bacterial models. Mutations in SURF1 lead to Complex IV deficiency.
"the SURF1 subunit of MITRAC may act as an additional chaperone, for which there is evidence in bacterial models"
MT-CO3, COX6A,B,7A and NDUFA4 bind to holo-MT-CO1,2 complex
-
Final assembly step of Complex IV. SURF1 is not specifically mentioned in this late assembly step, consistent with its role at earlier stages.
"The final assembly of Complex IV consists of binding of the MT-CO3, COX6A, COX6B, COX7A, and NDUFA4 subunits to the holo-MT-CO1, MT-CO2 complex"
Deep research review of SURF1 gene function
-
SURF1 is a conserved IMM assembly factor required for proper biogenesis of cytochrome c oxidase (Complex IV), likely acting at COX1-module maturation/assembly and interfacing with metal/cofactor handling machinery. Biallelic SURF1 variants produce a reproducible Leigh syndrome phenotype with Complex IV deficiency.