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FLASH GENE
Symbol SCD contributors: mct/ - updated : 26-02-2018
HGNC name stearoyl-CoA desaturase (delta-9-desaturase)
HGNC id 10571
Location 10q24.31      Physical location : 102.106.771 - 102.124.587
Synonym name
  • delta 9 desaturase
  • fatty acid desaturase
  • acyl-CoA desaturase
  • Synonym symbol(s) ACOD, FADS5, MSTP008, PRO0998, PRO1933, SCD1
    EC.number 1.14.19.1, 1.14.99.5
    DNA
    TYPE functioning gene
    STRUCTURE 17.82 kb     6 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence Promoter (CAAT box)
    Binding site   transcription factor   HRE
    text structure
  • sterol regulatory element (role in transcriptional activation of this gene) nuclear factor 1
  • contains conserved regulatory sequences for the binding of several transcription factors including the sterol regulatory element binding protein (SREBP), CCAAT enhancer binding protein-alpha (C/EBPalpha) and nuclear factor-1 (NF-1)
  • MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    6 - 5473 41.4 359 - 2001 11414710
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    blood / hematopoieticspleen   highly
    Digestiveliver   highly
    Reproductivemale systemprostate  highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Blood / Hematopoieticbone marrow   
    Connectivebone   
    Lymphoid    
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • histidine box domain containing the active site and/or involved in metal ion binding
  • HOMOLOGY
    interspecies homolog to C.elegans Flat7
    Homologene
    FAMILY
  • fatty acid desaturase family
  • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    basic FUNCTION
  • microsomal enzyme required for the biosynthesis of oleate (C18:1) and palmitoleate (C16:1) which are the major monounsaturated fatty acids of membrane phospholipids, triglycerides and cholesterol esters
  • enhancer of the metabolic syndrome, and its inhibition dissociates insulin resistance and obesity from atherosclerosis
  • involved in the synthesis of monounsaturated fatty acids
  • rate limiting step in the biosynthesis of monounsaturated fatty acids (MUFA) which are required for efficient neutral lipid esterification
  • its activity is required for efficient cholesterol esterification to MUFA (monounsaturated fatty acids) and loss of this activity increases XBP1-mediated free cholesterol synthesis
  • regulation of its expression is altered in morbid obesity, and the SCD1 protein may have a different regulation in visceral (VAT) and subcutaneous adipose tissue (SAT), as well as being closely linked to the degree of insulin resistance
  • plays a tumor-suppressive role in leukemia stem cells (LSCs) with no effect on the function of normal hematopoietic stem cells
  • rate-limiting enzyme in the biosynthesis of monounsaturated fatty acids and is crucial for lipid homeostasis
  • plays a pivotal role in an increase of triglyceride by an excess of dietary carbohydrate intake
  • rate-limiting enzyme in the synthesis of monounsaturated fatty acids
  • macrophage-specific SCD overexpression promotes overall reverse cholesterol transport (RCT) through increased cholesterol efflux to HDL
  • role of skin SCD in regulating skin integrity and whole body energy homeostasis
  • role of SCD as a regulator of fatty acid profiles and TG synthesis in adipocytes
  • SCD activity is required for the earliest step of autophagosome formation
  • key adipogenic enzyme, playing significant role in the regulation of adipocyte inflammation via a mechanism that involves the regulation of inflammatory gene expression
  • regulates the level of DNA methylation in adipocytes, suggesting that the mechanism by which SCD affects adipocyte inflammation may involve changes in the methylation of inflammatory genes
  • plays important roles in organ development, glucose tolerance, insulin sensitivity, and cancer
  • requirement for SCD activity in functional differentiation of hepatocytes may have relevance for human liver disease and metabolic dysregulation
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • FGFR3 signaling promotes the cleavage and activation of the master transcriptional regulator of lipogenesis, SREBF1, that in turn regulates the expression of SCD
  • negative regulation of MAPK14 mediates the protective effects of SCD on ER homeostasis under distinct stress conditions
  • expression of SCD and ELOVL6, encoding key enzymes in lipogenesis, were regulated by the cooperation between YY1 and PPARA/RXRA complex over their promoters
  • cell & other
    REGULATION
    activated by SREBF, which plays a role in its transcriptional activation
    inhibited by TH (thyroid hormone) that negatively regulates human SCD gene expression in without direct binding of the TH receptor to the SCD gene promoter
    repressed by polyunsaturated fatty acids and cholesterol
    Other SCD inhibition causes cancer cell death by depleting mono-unsaturated fatty acids
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --over  
    in hepatic iron overload (enhancing the biosynthesis of unsaturated fatty acid)
    constitutional     --over  
    in visceral (VAT) and subcutaneous adipose tissue (SAT) from morbidly obese patients
    constitutional     --low  
    visceral (VAT) adipose tissue SCD1 protein levels were decreased in those with higher insulin resistance
    constitutional     --low  
    decreased hepatic SCD expression/activity may be related to decreased risk of breast cancer
    constitutional       loss of function
    results in reduced body adiposity, increased insulin sensitivity, and resistance to diet-induced obesity
    constitutional   deletion    
    adipose-specific deletion of SCD leads to the reduction of adiponectin expression in adipose tissue, causing the up-regulation of SLC2A1 expression for maintenance of glucose transport
    constitutional     --over  
    causes the global hypomethylation of DNA, even as early as 12h after the induction of differentiation, with the greatest difference seen in mature adipocytes
    Susceptibility
  • to combined hyperlipidemia
  • to Graves ophthalmopathy
  • Variant & Polymorphism SNP , other
  • increased SCD1 activity associated to combined hyperlipidemia
  • rs1393491 in SCD were associated with Graves ophthalmopathy
  • Candidate gene
    Marker
  • fatty acid desaturation index (the plasma ratio of 18:1/18:0) is a marker of SCD activity
  • SCD appears to be correlated with thyroid tumor aggressiveness and may serve as a prognostic biomarker in anaplastic thyroid carcinoma
  • Therapy target
    SystemTypeDisorderPubmed
    cancer  
    pharmacological inhibition of SCD1 in cancer cells promoted the activation of AMP-activated kinase (AMPK) and the subsequent reduction of acetylCoA carboxylase activity, with a concomitant inhibition of glucose-mediated lipogenesis, impairing proliferatio
    obesity  
    modulation of SCD, a therapeutic target for obesity and related metabolic disorders
    diabete  
    inhibition of its expression could be of benefit for the treatment of obesity, diabetes, and other metabolic diseases
    obesity  
    inhibition of its expression could be of benefit for the treatment of obesity, diabetes, and other metabolic diseases
    cancerurinary 
    potential therapeutic target for FGFR3-driven bladder cancer
    cancerhemopathy 
    anti-leukemia stem cells (LSCs) strategy through enhancing SCD activity
    cancerendocrinethyroid
    is a novel tumor-specific target for therapy in patients with anaplastic thyroid carcinoma
    ANIMAL & CELL MODELS
  • mice lacking Scd1 are protected from obesity and insulin resistance and are characterized by decreased fatty acid synthesis and increased fatty acid oxidation
  • liver-specific Scd1-deficient (LKO) mice, however, were not protected from high-fat diet-induced obesity and insulin resistance