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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@
    Physical map
    BARHL1 9q34 BarH-like 1 (Drosophila) DDX31 9q34.3 DEAD (Asp-Glu-Ala-Asp) box polypeptide 31 GTF3C4 9q34.3 general transcription factor IIIC, polypeptide 4, 90kDa FLJ32704 9q34.3 hypothetical protein FLJ32704 C9orf9 9q34 chromosome 9 open reading frame 9 TSC1 9q34.1-q34.2 tuberous sclerosis 1 GFI1B 9q34.13 growth factor independent 1B (potential regulator of CDKN1A, translocated in CML) LOC158078 9q34 eukaryotic translation elongation factor 1 alpha 1 pseudogene LOC389801 9 LOC389801 GTF3C5 9q34 general transcription factor IIIC, polypeptide 5, 63kDa CEL 9q34.2 carboxyl ester lipase (bile salt-stimulated lipase) CELP 9q34.2-q34.3 carboxyl ester lipase pseudogene RALGDS 9q34.1-q34.2 ral guanine nucleotide dissociation stimulator FS 9q34 ral guanine nucleotide dissociation stimulator OBP2B 9q34 ral guanine nucleotide dissociation stimulator LOC286310 9q34.3 similar to Von Ebners gland protein precursor (VEG protein) (Tear prealbumin) (TP) (Tear lipocalin) (Lipocalin 1) ABO 9q34.1-q34.2 ABO blood group (transferase A, aplha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3galactosyltransferase) LOC392396 9 similar to Von Ebners gland protein precursor (VEG protein) (Tear prealbumin) (TP) (Tear lipocalin) (Lipocalin 1) SURF6 9q34.2 surfeit 6 SURF5 9q34.2 surfeit 5 RPL7A 9q34.2 ribosomal protein L7a SURF1 9q34.2 surfeit 1 SURF2 9q34.2 surfeit 2 SURF4 9q34.2 surfeit 4 ADAMTS13 9q34 a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 13 C9orf7 9q34 chromosome 9 open reading frame 7 SLC2A6 9q34 solute carrier family 2 (facilitated glucose transporter), member 6 DBH 9q34.2 dopamine beta-hydroxylase (dopamine beta-monooxygenase) SARDH 9q33-q34 sarcosine dehydrogenase VAV2 9q34.2 vav 2 oncogene
    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