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FLASH GENE
Symbol SLC27A1 contributors: mct/pgu - updated : 11-01-2017
HGNC name solute carrier family 27 (fatty acid transporter), member 1
HGNC id 10995
Corresponding disease
MROS2 Melkersson-Rosenthal syndrome 2
Location 19p13.11      Physical location : 17.581.299 - 17.616.977
Synonym name fatty acid transport protein 1
Synonym symbol(s) FATP1, ACSVL5, FATP, FLJ00336, MGC71751
EC.number 6.2.1.-
DNA
TYPE functioning gene
STRUCTURE 37.42 kb     12 Exon(s)
regulatory sequence Promoter
Binding site   HRE
text structure NR2C2 transactivated SLC27A1 5prime promoter activity via direct binding to the NR2C2 responsive element located at the SLC27A1 5prime promoter region
MAPPING cloned Y linked N status provisional
Physical map
F2RL3 19p12 coagulation factor II (thrombin) receptor-like 3 VIP 6q24-q27 vasoactive intestinal peptide MGC20533 19p13.12 similar to RIKEN cDNA 2410004L22 gene (M. musculus) MYO9B 19p13.1 myosin IXB MDS032 19p13.12 uncharacterized hematopoietic stem/progenitor cells protein MDS032 FLJ22709 19p13.12 hypothetical protein FLJ22709 NR2F6 19p13.1 nuclear receptor subfamily 2, group F, member 6 MCC2 19p13 nuclear receptor subfamily 2, group F, member 6 HSPC142 19p13.12 HSPC142 protein FLJ39369 19p13.12 hypothetical protein FLJ39369 ABHD8 19p13.12 abhydrolase domain containing 8 MRPL34 19p13.1 mitochondrial ribosomal protein L33 MGC2594 19p13.12 hypothetical protein MGC2594 KIAA1623 19p13.12 KIAA1623 GTPBP3 19p13.12 GTP binding protein 3 (mitochondrial) PLVAP 19p13.2 plasmalemma vesicle associated protein BST2 19p13.2 bone marrow stromal cell antigen 2 LOC93343 19p13.12 hypothetical protein BC011840 LOC115861 19p13.12 hypothetical protein BC014127 SLC27A1 19p13.1 solute carrier family 27 (fatty acid transporter), member 1 PGLS 19p13.2 6-phosphogluconolactonase BCNP1 19p13.12 B-cell novel protein 1 FLJ22329 19p13.12 hypothetical protein FLJ22329 UNC13A 19p13.12 unc-13 homolog A (C. elegans) VCY2IP1 19p13.12 VCY2 interacting protein 1 KIAA0290 B3GNT3 19p13.1 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 3 INSL3 19p13.1-p12 insulin-like 3 (Leydig cell) JAK3 19p13.1 Janus kinase 3 (a protein tyrosine kinase, leukocyte) RPL18A 19p13 ribosomal protein L18a SLC5A5 19p13.2-p12 solute carrier family 5 (sodium iodide symporter), member 5 LOC115098 19p13.12 hypothetical protein BC013949 KCNN1 19p13.1 potassium intermediate/small conductance calcium-activated channel, subfamily N, member 1
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
12 - 3609 - 646 - 2006 16357361
- - - - - - 2010 20356843
  • containing the cytosolic C-terminal sequence
  • interact dose-dependently with the native RPE65 and with LRAT
  • EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveintestinelarge intestinecolon highly
    Hearing/Equilibriumearinnercochlea highly
    Nervousnervecranial nerve  highly
    Urinarykidney    
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Connectiveadipose   
    cells
    SystemCellPubmedSpeciesStageRna symbol
     adipocyte
    Digestivehepatocyte
    Muscularmyocyte
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • six membrane-spanning segments
  • three N glycosylation sites
  • a lipocalin motif
  • AMP binding domain
  • HOMOLOGY
    Homologene
    FAMILY
  • ATP-dependent AMP-binding enzyme family
  • CATEGORY enzyme , regulatory , transport carrier
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,organelle,mitochondria,inner
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    text
  • predominantly cytoplasmic in myocytes
  • some SLC27A1 translocates to the plasma membrane in response to insulin, but the majority remains within intracellular structures and potentially the protein primarily resides in the mitochondrion
  • basic FUNCTION
  • involved in translocation of long-chain fatty acids (lfca) across the plasma membrane
  • enhancing the cellular uptake of long-chain fatty acids
  • may be involved in regulation of cholesterol metabolism
  • having acyl-coa ligase activity for long-chain and very-long-chain fatty acids
  • regulatory function of SLC27A1 in myotube mitochondria
  • is associated with mitochondria and has a role in mitochondrial oxidation of fatty acids
  • insulin-sensitive fatty acid transporter involved in diet-induced obesity
  • role as a regulator of tricarboxylic acid cycle activity and mitochondrial function
  • mediates fatty acid-induced activation of AMPK in adipocytes and provides a potential regulatory mechanism for balancing de novo production of fatty acids from glucose metabolism with influx of preformed fatty acids via phosphorylation of acetyl-CoA carboxylase
  • is a novel regulator of reprogramming of macrophages activation through control of substrate metabolism
  • metabolic reprogramming through SLC27A1 regulates macrophage inflammatory potential and adipose inflammation
  • localized at the basal membrane of brain microvessels contributes to the transport of docosahexaenoic acid (DHA), taurine and biotin into the brain
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS facilitated diffusion transport
    PATHWAY
    metabolism lipid/lipoprotein
    signaling
    a component
  • evolutionarily conserved SLC27A1-DGAT2 complex acts at the ER-LD interface and couples the synthesis and deposition of triglycerides into lipid droplets (LDs) both physically and functionally
  • INTERACTION
    DNA
    RNA
    small molecule
  • cAMP
  • protein
  • markedly inhibits 11-cis retinol production by acting on the production of all-trans retinyl esters and the isomerase activity of RPE65
  • NR2C2 transactivated SLC27A1 5prime promoter activity via direct binding to the NR2C2 responsive element located at the SLC27A1 5prime promoter region
  • preferentially associated with DGAT2, and they acted synergistically to promote lipid droplets (LDs) expansion in mammalian cells
  • cell & other
    REGULATION
    activated by PPAR and RXR agonists
    NR2C2 (activates SLC27A1 gene expression to promote lipid accumulation in 3T3-L1 adipocytes)
    ASSOCIATED DISORDERS
    corresponding disease(s) MROS2
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --over  
    in skeletal muscle increased the rate of SLC27A1 transport and channelled these lipids to oxidation, not to intramuscular lipid accumulation
    constitutional     --over  
    upon weight loss in morbidly obese patients
    Susceptibility
    Variant & Polymorphism SNP associated with increased plasma triglycerides and alteration in LDL particle distribution
    Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    diabete  
    antidiabetic target
    ANIMAL & CELL MODELS
    skeletal muscle Slc27a1 overabundance does not predispose animals to diet-induced insulin resistance