Selected-GenAtlas references SOURCE GeneCards NCBI Gene Swiss-Prot Orphanet Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
FLASH GENE
Symbol SCO1 contributors: mct - updated : 11-07-2014
HGNC name SCO cytochrome oxidase deficient homolog 1 (yeast)
HGNC id 10603
Corresponding disease
HFND hepatic failure and neurologic disorder
Location 17p13.1      Physical location : 10.583.650 - 10.600.885
Synonym name
  • complex 4 of the respiratory chain
  • synthesis of cytochrome c oxidase deficient homolog 1
  • Synonym symbol(s) SCOD1, SCO1L
    DNA
    TYPE functioning gene
    STRUCTURE 17.24 kb     6 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    Map pter - D17S804 - MYH8 - SCO1 - COX10 - D17S799 - cen
    Authors GeneMap (98)
    Physical map
    FLJ35773 17p13.1 hypothetical protein FLJ35773 P101-PI3K 17p13.1 phosphoinositide-3-kinase, regulatory subunit, polypeptide p101 LOC388334 17 LOC388334 NTN1 17p13-p12 netrin 1 STX8 17p12 syntaxin 8 LOC146845 17p13.1 hypothetical protein LOC146845 USP43 17p12 ubiquitin specific protease 43 LOC201140 17p13.1 similar to DKFZP566O084 protein GLP2R 17p13.3 glucagon-like peptide 2 receptor RCV1 17p13.2 recoverin GAS7 17p13 growth arrest-specific 7 RPS27AP1 17 ribosomal protein S27a pseudogene 1 MYH13 17p13.1-p12 myosin, heavy polypeptide 13, skeletal muscle MYH8 17p13.1 myosin, heavy polypeptide 8, skeletal muscle, perinatal MYH4 17p13.1 myosin, heavy polypeptide 4, skeletal muscle MYH1 17p13.1 myosin, heavy polypeptide 1, skeletal muscle, adult MYH2 17p13.1 myosin, heavy polypeptide 2, skeletal muscle, adult MYH3 17p13.1 myosin, heavy polypeptide 3, skeletal muscle, embryonic SCO1 17p13-p12 SCO cytochrome oxidase deficient homolog 1 (yeast) MDS006 17p13.1 x 006 protein LOC388335 17 similar to RIKEN cDNA A730055C05 gene LOC388336 17 similar to hypothetical protein D430041B17 LOC284033 17p13.1 hypothetical protein LOC284033 DNAH9 17p12 dynein, axonemal, heavy polypeptide 9 ZNF18 17p13-p12 zinc finger protein 18 (KOX 11) LOC390763 17 similar to 60S ribosomal protein L21 MAP2K4 17p11.2 mitogen-activated protein kinase kinase 4
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    6 - 1768 - 301 - -
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularvessel   predominantly Homo sapiens
    Digestiveesophagus   highly
     liver   highly Homo sapiens
    Nervousnervecranial nerve  highly
    Reproductivefemale systemuteruscervix highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Connectivebone  highly
    Muscularstriatumcardiac  
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • N terminal mitochondrial leader peptide
  • a putuative transmembrane domain
  • a copper-binding domain common to yeast Sco1, Sco2
  • a single transmembrane domain
  • conjugated MetalloP
    HOMOLOGY
    interspecies homolog to yeast sco1
    intraspecies paralog to SCO2
    Homologene
    FAMILY SCO1/2 family
    CATEGORY chaperone/stress , transport carrier
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,mitochondria,inner
    intracellular,cytoplasm,organelle,membrane
    text inner mitochondrial membrane in yeast
    basic FUNCTION
  • either involved in transport or in the insertion of copper into the active site of the enzyme
  • specifically required for a post-translational step of c oxidase (copper delivery to cytochrome oxidase)
  • can act both as a copper chaperone and a thioredoxin
  • function as copper-binding protein
  • implicated in the copper metallation of the Cu(A) site in MT-CO2 of cytochrome oxidase
  • although COX11 and SCO1 play distinct roles in COX assembly, they seem to play overlapping or related roles in peroxide metabolism
  • SCO1 and SCO2 are metallochaperones whose principal function is to add two copper ions to the catalytic core of cytochrome c oxidase (COX)
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS cellular trafficking transport
    text mitochondrial copper transport
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interacting with SCO2 for copper delivery to cytochrome C oxidase
  • SCO2 acts upstream of SCO1, and that it is indispensable for CO II synthesis
  • COX19 is necessary for the transduction of a SCO1-dependent mitochondrial redox signal that regulates ATP7A-mediated cellular copper efflux
  • COX20 cooperates with SCO1 and SCO2 to mature COX2 and promote the assembly of cytochrome c oxidase
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) HFND
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS