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FLASH GENE
Symbol SC5DL contributors: - updated : 01-07-2006
HGNC name sterol-C5-desaturase (ERG3 delta-5-desaturase homolog, fungal)-like
HGNC id 10547
Corresponding disease
LTSL lathosterolosis
Location 11q24.2-q24.3      Physical location : 121.163.387 - 121.184.117
Synonym name lathosterol oxidase
Synonym symbol(s) ERG3, SC5D
EC.number 1.3.3.2
DNA
TYPE functioning gene
STRUCTURE 5.00 kb     5 Exon(s)    single Copie(s)
10 Kb 5' upstream gene genomic sequence study
regulatory sequence cytosine-phosphate-guanine/HTF
MAPPING cloned Y linked N status confirmed
Physical map
USP2 11q23.3 ubiquitin specific protease 2 LOC94105 11q22.3-q23 Thy-1 co-transcribed THY1 11q23.3 Thy-1 cell surface antigen LOC387813 11 similar to keratin 8; cytokeratin 8; keratin, type II cytoskeletal 8 PVRL1 11q23-q24 poliovirus receptor-related 1 (herpesvirus entry mediator C; nectin) LOC390255 11 similar to HLA-B-associated transcript 1A; nuclear RNA helicase Bat1 LOC387814 11 LOC387814 TRIM29 11q22-q23 tripartite motif-containing 29 LOC219908 11q23.3 hypothetical LOC219908 NS5ATP13TP2 11q23.3 NS5ATP13TP2 protein POU2F3 11q23.3 POU domain, class 2, transcription factor 3 MGC17839 11q23.3 hypothetical protein MGC17839 ARHGEF12 11q23.3 Rho guanine nucleotide exchange factor (GEF) 12 GRIK4 11q23 glutamate receptor, ionotropic, kainate 4 MGC10233 11q23.3 hypothetical protein MGC10233 TECTA 11q22-q24 tectorin alpha SC5DL 11q24.2-q24.3 sterol-C5-desaturase (ERG3 delta-5-desaturase homolog, fungal)-like LOC283155 11q23.3 similar to bone morphogenetic protein receptor, type IA precursor; activin A receptor, type II-like kinase 3 LOC390256 11 similar to programmed cell death-2/Rp8 homolog SORL1 11q23.2-q24.4 sortilin-related receptor, L(DLR class) A repeats-containing LOC255849 11q24.1 hypothetical LOC255849 LOC390257 11 similar to Glutamine synthetase (Glutamate--ammonia ligase) LOC390258 11 similar to scaffold attachment factor B; heat-shock protein (HSP27) estrogen response element and TATA box-binding protein; HSP27 ERE-TATA-binding protein; glutathione S-transferase fusion protein; scaffold attachment factor B1 KIAA1959 11q24.1 nm23-phosphorylated unknown substrate CRTAM 11q22-q23 class-I MHC-restricted T cell associated molecule FLJ23554 11q24.1 hypothetical protein FLJ23554 LOC390259 11 similar to brain-specific homeodomain protein LOC341056 11q24.1 similar to SUMO-1 activating enzyme subunit 1; SUMO-1 activating enzyme E1 N subunit; sentrin/SUMO-activating protein AOS1; ubiquitin-like protein SUMO-1 activating enzyme HSPA8 11q23.3-q25 heat shock 70kDa protein 8 LOC85391 11q23.3-q25 RNA, small nucleolar ASAM 11q24.1 adipocyte-specific adhesion molecule
regionally located in the 14kb FEN1 - VMD2 interval
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
- - 2244 - 299 - Matsushima, Brunetti-Pierri
444 AA (Leonard)
- - 2164 - 236 - Brunetti-Pierri
EXPRESSION
Type ubiquitous
constitutive of
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
blood / hematopoieticspleen   highly
Digestiveliver   highly
Nervousbrain   highly
Urinarykidney   highly
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Lymphoid    
Muscularstriatumskeletal  
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • N terminal cytochrome b(5)-like domain as well as three histidine-rich domain
  • histidine box domain containing the active site for metal ion binding
  • HOMOLOGY
    interspecies homolog to fungal
    homolog to murine Sc5d
    Homologene
    FAMILY sterol desaturase family
    CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,endoplasmic reticulum ,rough,smooth
    basic FUNCTION
  • involved in cholesterol biosynthesis
  • catalyzing a dehydrogenation to introduce C5-6 double bond into lathosterol
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism lipid/lipoprotein
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule cofactor,
    iron
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) LTSL
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS