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FLASH GENE
Symbol SURF1 contributors: mct/ - updated : 05-12-2016
HGNC name surfeit 1
HGNC id 11474
Corresponding disease
CMT4K Charcot-Marie-Tooth disease type 4K
SNELS subacute necrotizing encephalopathy Leigh syndrome
Location 9q34.2      Physical location : 136.218.665 - 136.223.361
Synonym name
  • complex 4 of the respiratory chain
  • surfeit locus protein 1
    • Synonym symbol(s) SURF-1
    EC.number 1.9.3.1
    DNA
    TYPE functioning gene
    SPECIAL FEATURE component of a cluster, head to head, opposite orientation
    text
  • member of a cluster of six housekeeping genes
  • sharing a bidirectional promoter with SURF2 on the opposite strand
    • STRUCTURE 4.68 kb     9 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence cytosine-phosphate-guanine/HTF
    MAPPING cloned Y linked Y status confirmed
    Map see SURF@
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    9 - 1037 - 300 - 2009 19625251
    8 - 994 - 191 - 2009 19625251
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveliver    
    Endocrinepancreas    
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Connectivebone   
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • an aminoterminal characteristic mitochondrial targeting sequence
  • N and C termini transmembrane segments
  • a central loop spanning the intermembrane space
    • mono polymer heteromer , complex
    HOMOLOGY
    interspecies homolog to yeast SHY1(mitochondrial protein)
    ortholog to murine Surf1
    homolog to Drosophila Surf1
    homolog to C.elegans H06I04.2
    Homologene
    FAMILY
  • SURF1 family
    • CATEGORY enzyme , transport carrier
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,mitochondria,inner
    intracellular,cytoplasm,organelle,membrane
    text anchored to the inner mitochondrial membrane by two transmembrane domains
    basic FUNCTION
  • involved in the biogenesis of an active cytochrome c oxidase complex
  • having a direct role in heme a cofactor insertion into COX subunit I by providing a protein-bound heme a pool
  • appears to be involved in the early step of COX assembly
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS respiration , electron transport
    text aerobic respiration
    PATHWAY
    metabolism
    signaling
    a component
  • associated with a primitive quinol oxidase belonging to the cytochrome oxidase
    • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • is a specific assembly factor of cytochrome c oxidase (COX)
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) SNELS , CMT4K
    related resource MITOP database
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • SURF1(-/-) mouse fibroblasts were characterized by low content of COX1 assembly intermediates and milder decrease in COX monomer, which appeared more stable
  • mice carrying a homozygous knockout (KO) of the Surf1 gene showed a significant decrease in mitochondrial electron transport chain Complex IV activity, yet displayed increased lifespan and reduced brain damage after excitotoxic insults