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FLASH GENE
Symbol SLC17A5 contributors: mct - updated : 22-10-2015
HGNC name solute carrier family 17 (anion/sugar transporter), member 5
HGNC id 10933
Corresponding disease
SALD Salla disease
SIASD free sialic acid storage disease, infantile
Location 6q13      Physical location : 74.303.102 - 74.363.737
Synonym name
  • sialin
  • sialin, anion/cation symporter family
  • sodium/sialic acid cotransporter
  • membrane glycoprotein HP59
  • Synonym symbol(s) SASD, AST, FLJ22227, FLJ23268, ISSD, NSD, SD, SIALIN
    DNA
    TYPE functioning gene
    STRUCTURE 60.63 kb     11 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    Physical map
    LOC340167 6q14.1 similar to hypothetical protein DKFZp434A1315 KCNQ5 6q14 potassium voltage-gated channel, KQT-like subfamily, member 5 C6orf148 6q13 chromosome 6 open reading frame 148 EIF3S6P1 6q13 eukaryotic translation initiation factor 3, subunit 6 48kDa pseudogene 1 LOC391942 6 similar to syntenin-2alpha LOC391943 6 similar to Multifunctional protein ADE2 LOC340168 6q14.1 similar to developmental pluripotency associated 5; embryonal stem cell specific gene 1 LOC154288 6q14.1 similar to RIKEN cDNA 2410004A20 RPL39P3 6q14.1 ribosomal protein L39 pseudogene 3 DDX43 6q12-q13 DEAD (Asp-Glu-Ala-Asp) box polypeptide 43 C6orf150 6q13 chromosome 6 open reading frame 150 MTO1 6q14.1 mitochondrial translation optimization 1 homolog (S. cerevisiae) EEF1A1 6q14 eukaryotic translation elongation factor 1 alpha 1 LOC389411 6 LOC389411 SLC17A5 6q14-q15 solute carrier family 17 (anion/sugar transporter), member 5 CD109 6q14.1 CD109 antigen (Gov platelet alloantigens)
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    11 polyA site 3333 - 495 ubiquitous 2010 20424173
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveliver   highly Homo sapiens
     salivary glandparotid  highly Homo sapiens
    Lymphoid/Immunespleen   moderately Homo sapiens
    Nervousbraindiencephalonhypothalamus moderately Homo sapiens
    Urinarykidney   moderately Homo sapiens
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Nervousneuron
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period embryo
    Text developing brain
    PROTEIN
    PHYSICAL PROPERTIES Hydrophilic
    STRUCTURE
    motifs/domains
  • 12 transmembrane helices (TMs) with an overall architecture similar to that of the distantly related glycerol 3-phosphate transporter
  • intracytoplasmic N and C termini
  • a anion transport (ACS) signature in the fourth transmembrane-spanning domain,
  • six putative glycosylation sites
  • conjugated GlycoP
    HOMOLOGY
    interspecies homolog to C.elegans C38C10.2
    Homologene
    FAMILY
  • major facilitator superfamily
  • sodium/anion cotransporter family
  • CATEGORY enzyme , transport channel
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,lysosome
    text
  • endogenously localized in the lysosomes as well as in the plasma membrane of salivary gland cells, where it functions as an electrogenic 2NO3&
  • 8722;/H+ cotransporter mediating influx of nitrate into the cell
    basic FUNCTION
  • anion/cation symporter, playing a role in the secretory processes of neuronal cells
  • primary solute translocator for anionic substances, particularly it is a free sialic acid transporter
  • in the lysosomes
  • responsible for vesicular storage for aspartate in neurons and pinealocytes
  • responsible for vesicular storage and subsequent exocytosis of aspartate and glutamate
  • transports free sialic acid out of the lysosome after it is cleaved from sialoglycoconjugates undergoing degradation
  • mediates H+-coupled symport of acidic sugars N-acetylneuraminic acid and glucuronic acid out of lysosomes
  • lysosomal sialic acid exporter also recently implicated in exocytotic release of aspartate
  • functions as an electrogenic 2NO3&
  • 8722;/H+ cotransporter in the plasma membrane of salivary gland acinar cells
  • mediates nitrate influx into salivary gland and other cell types
  • is involved in nitrate uptake into salivary glands
  • can also function as an electrogenic 2NO3&
  • 8722;/H+ cotransporter in the plasma membrane
  • as a nitrate cotransporter in the salivary glands, can play an important role in the physiological regulation of systemic nitrateľnitriteľNO balance
  • sialin is most probably the major and possibly only vesicular transporter for NAAG (N-acetylaspartylglutamate)
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    activated by estradiol
    ASSOCIATED DISORDERS
    corresponding disease(s) SIASD , SALD
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional       loss of function
    associated to a defect in maturation of cells in the oligodendrocyte lineage leading to increased apoptosis and myelination defect
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS