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FLASH GENE
Symbol SLC7A1 contributors: mct/npt - updated : 13-01-2016
HGNC name solute carrier family 7 (cationic amino acid transporter, y+ system), member 1
HGNC id 11057
Location 13q12.3      Physical location : 30.083.551 - 30.169.825
Synonym name
  • ecotropic retroviral receptor
  • amino acid transporter, cationic 1
  • system Y+ basic amino acid transporter
  • Synonym symbol(s) ATRC1, MERR, CAT-1, HCAT1, ERR, REC1L, CTR1
    DNA
    TYPE functioning gene
    STRUCTURE 86.28 kb     13 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence Promoter
    text structure
  • bifunctional INE (intronic element) within the first intron of the SLC7A1 gene was identified, and act as a transcriptional enhancer in unstressed cells by binding the transcription factor, purine-rich element binding protein A (Pur alpha)
  • MAPPING cloned Y linked Y status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    13 - 7357 67.5 629 - Kamath (1999)
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveintestinelarge intestinecolon highly
    Nervousbraindiencephalonhypothalamus   Homo sapiens
     brainbasal nucleicaudate nucleus   Homo sapiens
     brainforebraincerebral cortexfrontal cortexhighly Homo sapiens
     braindiencephalonthalamus   Homo sapiens
    Reproductivefemale systemuteruscervix highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Muscularstriatumskeletal  
    Nervouscentral   
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period pregnancy
    Text placenta
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • twelve transmembrane (12TM) segments
  • cytoplasmic N and C termini
  • conjugated GlycoP
    HOMOLOGY
    intraspecies homolog to SLC7A2
    Homologene
    FAMILY
  • solute carrier family 7
  • amino acid-polyamine-organocation (APC) superfamily
  • cationic amino acid transporter (CAT) family
  • CATEGORY transport carrier
    SUBCELLULAR LOCALIZATION     plasma membrane
    basic FUNCTION
  • high-affinity, low capacity permease involved in the transport of the cationic amino acids (arginine, lysine and ornithine) in non-hepatic tissues
  • may also function as an ecotropic retroviral leukemia receptor
  • SLC7A1 mediated L-arginine influx, is essential for both inducible nitric oxide synthase and arginase enzyme activities, which in turn modulate proliferation and differentiation of human epidermal skin cells (Schnorr 2003)
  • SLC7A1, SLC7A3 mediate influences of NMDA receptor activation on the MTOR pathway that regulates neuronal processes
  • directly involved in erythropoiesis through supplying arginine to the blood cells (Maeda 2008)
  • its expression is highly induced in proliferating and stressed cells via mechanisms that include transcriptional activation
  • is responsible for the bulk of the uptake of cationic amino acids in most mammalian cells
  • endothelial SLC7A1 overexpression can counter the ability of oxidative stress to augment pressor responses to behavioural stress
  • involvement in L-ornithine transport at the luminal and abluminal sides of the inner blood-retinal barrier (BRB) and the basal side of the outer BRB
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism aminoacid
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • PTBP1 and HNRNPL are positive regulators of SLC7A1 mRNA translation via the internal ribosome entry site (IRES) under stress conditions that cause a global decrease of protein synthesis
  • activation of protein kinase C (PKC) leads to down-regulation of the cell surface SLC7A1
  • estradiol augments while progesterone inhibits arginine transport in human endothelial cells through modulation of SLC7A1
  • important role of the endothelial BDKRB1 in the vascular control by interfering with SLC7A1 expression, L-Arg uptake and nitric oxide (NO) release
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --low  
    decreased, especially in the stratum granulosum of psoriatic skin (Jaeger 2008)
    Susceptibility to essential hypertension
    Variant & Polymorphism other functionally active polymorphism in the 3'UTR that may account for the apparent link between altered endothelial function, L-arginine, and nitric oxide metabolism and predisposition to essential hypertension (Yang 2007)
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS