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FLASH GENE
Symbol SLC38A1 contributors: mct - updated : 16-03-2022
HGNC name solute carrier family 38, member 1
HGNC id 13447
DNA
TYPE functioning gene
STRUCTURE 86.01 kb     17 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status provisional
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
17 - 7758 54 487 - 2004 15054072
17 - 8487 54 487 - 2004 15054072
16 - 7982 - 487 - 2004 15054072
18 - 8220 - 487 - 2004 15054072
17 - 7650 - 487 - 2004 15054072
17 - 2885 - 503 - 2004 15054072
EXPRESSION
Type ubiquitous
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Endocrineneuroendocrinepituitary  highly
Hearing/Equilibriumearinnercochlea   Homo sapiens
Lymphoid/Immunelymph node   highly
Nervousbrain     Homo sapiens
Reproductivefemale systemuteruscervix highly
 male systemprostate  highly
Urinarykidney   highly
Visualeyeretina   
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Epithelialsensoryvisual  
Muscularstriatumskeletal  
Nervouscentral   
Nervousperipherous   
cells
SystemCellPubmedSpeciesStageRna symbol
Hearing / Equilibriumhair cell receptor Homo sapiens
Nervousneuron Homo sapiens
Nervousoptic nerve
Visualganglion cell
cell lineage
cell lines
fluid/secretion
at STAGE
physiological period pregnancy
Text placenta, expressed in human placental trophoblast
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • eleven putative transmembrane spanning domains
  • three de novo glycosylation sites
  • HOMOLOGY
    interspecies homolog to murine Slc38a1
    Homologene
    FAMILY
  • amino acid/polyamine transporter 2 family
  • CATEGORY transport carrier
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm
    text extensively accumulated in the cytoplasm of pre-malignant liver and most hepatocellular carcinoma
    basic FUNCTION
  • important transporter of glutamine, an intermediate in the detoxification of ammonia and the production of urea
  • specific role in the uptake of glutamine involved in the generation of the neurotransmitter glutamate in retina
  • its activation confers growth and survival advantages in pre-malignant and malignant liver lesions
  • a key contributor to system A activity at term (System A-mediated amino acid transport across the placenta is important for the supply of neutral amino acids needed for fetal growth)
  • N-glycosylated protein and N-glycosylation of SLC38A1 may play an important role in the transport of substrates across the cell membrane
  • SLC38A1 is an obesity-associated gene in brown adipose tissue (BAT) and a hypoxia-responsive gene in brown adipocytes
  • played an essential role in the development and progression of osteosarcoma
  • SLC38A1 is not merely a transporter accumulating glutamine for metabolic purposes, but a key component regulating several neuronal functions
  • promoted ischemic brain damage via MTOR-autophagy system
  • key role of SLC38A1 for newly formed GABA, in harmony with the existence of a glutamate/GABA-glutamine (GGG) cycle
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS active transport
    PATHWAY
    metabolism
    signaling neurotransmission
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • MECP2 acts as a microglia-specific transcriptional repressor of SLC38A1
  • cell & other
    REGULATION
    repressed by taurine
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral       gain of function
    activated in hepatocellular carcinoma tissues and also elevated in pre-malignant cirrhotic livers compared with normal livers
    tumoral     --over  
    related to an unfavorable prognosis and defective immune infiltration in hepatocellular carcinoma (HCC)
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
  • may serve as a prognostic and therapeutic marker of OS
  • Therapy target
    ANIMAL & CELL MODELS