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FLASH GENE
Symbol SCP2 contributors: mct - updated : 13-07-2017
HGNC name sterol carrier protein 2
HGNC id 10606
DNA
TYPE functioning gene
STRUCTURE 124.39 kb     16 Exon(s)
Genomic sequence alignment details
10 Kb 5' upstream gene genomic sequence study
regulatory sequence Promoter
Binding site
text structure
  • SF1 binding site and three activators protein-1 element, one insuline response element (SF1 increase SCP2 promoter activity)
  • two distinct initiation sites
  • MAPPING cloned Y linked   status confirmed
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    16 - 2725 58.8 547 - 2008 18465878
  • isoform SCPx, proprotein having both thiolytic and SCP2 activities
  • is also partially, post-translationally cleaved to give a novel 45 kDa protein with thiolytic properties and SCP2 isoform 1
  • 11 - 2150 34.8 322 - 2008 18465878
  • lacking one of the coding exons and containing an alternate 3' terminal exon compared to transcript variant 1, resulting in early transcription termination and a distinct 3' UTR
  • encoding SCPx isoform 2, which has a shorter and a distinct C-terminus compared to SCPx isoform 1
  • 5 - 1428 13.2 143 - 2008 18465878
  • transcription initiation from a downstream promoter, hence lacking multiple 5' exons, compared to transcript variant 1
  • encoding SCP2 isoform 1, identical to the C-terminus of SCPx isoform 1 encoded by transcript variant 1
  • this isoform may be involved in the intracellular transport of sterols and may regulate steroidogenesis
  • 5 - 1419 - 140 - 2008 18465878
  • using an alternate acceptor splice site for one of the coding exons, resulting in SCP2 isoform 2 that is missing 3 internal aa compared to SCP2 isoform 1
  • transcript variant 4 is supported by numerous ESTs, however, the encoded protein is only predicted
  • 4 - 1298 4.5 59 - 2008 18465878
  • lacking a coding exon, resulting in a frameshift and early transcription termination in a downstream exon
  • encoding SCP2 isoform 3, that is shorter with a different C-terminus compared to SCP2 isoform 1
  • this variant is supported by numerous ESTs, however, the encoded protein is only predicted
  • 15 - 2653 - 523 - -
    15 - 2593 - 503 - -
    15 - 2667 - 466 - -
    EXPRESSION
    Type ubiquitous
    constitutive of
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveliver   highly
     salivary gland   highly
    Endocrineneuroendocrinepituitary  highly
    Reproductivefemale systemplacenta   
    Urinarybladder   highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Blood / hematopoieticbone marrow  highly
    Connectivebone   
    Muscularstriatumskeletal  
    cells
    SystemCellPubmedSpeciesStageRna symbol
    not specificfibroblast
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period pregnancy
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • an amino-terminal thiolase domain, and AA 1-32 amphipathic alpha-helical domain (cationic, positively charged face)
  • a carboxy-terminal sterol carrier protein 2 (SCP2) domain
  • isoforms Precursor encoded as a precursor protein (proSCP-2) (Martin 2008) N-terminal presequence in regulating SCP-2 structure, cholesterol localization within the ligand binding site, membrane association, and, potentially, intracellular targeting.
    HOMOLOGY
    interspecies homolog to murine Scp2 (89.2pc)
    homolog to rattus Scp2 (87.7pc)
    Homologene
    FAMILY
  • thiolase family
  • CATEGORY enzyme , transport carrier
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,mitochondria
    intracellular,cytoplasm,organelle,peroxisome
    text
  • cytoplasmic in the liver and also associated with mitochondria especially in steroidogenic tissues
  • isoform SCPx resides in the peroxisome
  • basic FUNCTION
  • SCPx isoform is a peroxisomal thiolase cleaving 2-methyl branched chains mediating intracellular cholesterol in steroidogenic tissues
  • facilitates cholesterol (Ch) and phospholipid (PL) transfer/exchange between membranes and appears to play a key role in intracellular lipid trafficking
  • playing a role in intracellular phosphatidylinositol transfer, distribution, and signaling
  • enhances cholesterol retention within the cell as well as regulates the distribution of signaling lipids, such as phosphoinositides and sphingolipids, at plasma membrane caveolae
  • FABP1 and SCP2 facilitate the preferential movement of HDL-associated cholesteryl esters (HDL-CEs) to bile for final elimination
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS cellular trafficking transport
    text sterol carrier
    PATHWAY
    metabolism lipid/lipoprotein
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interacting with CAV1
  • cell & other
    REGULATION
    Other the two promoters can be upregulated by FOXO3A
    ASSOCIATED DISORDERS
    corresponding disease(s) DMN1
    related resource MITOP database
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS