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FLASH GENE
Symbol SLC34A1 contributors: mct/npt/pgu - updated : 20-05-2015
HGNC name solute carrier family 34 (sodium phosphate), member 1
HGNC id 11019
Corresponding disease
FRTS2 Fanconi renotubular syndrome 2
NPHLOP1 nephrolithiasis/osteoporosis, hypophosphatemic 1
Location 5q35.3      Physical location : 176.811.431 - 176.825.848
Synonym name
  • renal sodium dependent phosphate transport protein 2
  • sodium/phosphate co-transporter
  • solute carrier family 17 (sodium phosphate), member 2
  • Na+-phosphate cotransporter type II
  • Synonym symbol(s) NPT2, NAPI3, SLC11, NPT2a, NPTIIa, NPHLOP1, SLC17A2, NaPi2A
    DNA
    TYPE functioning gene
    STRUCTURE 14.42 kb     13 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence Promoter (CAAT box) (TATA box)
    Binding site
    text structure APA61, AP-2 and sp1 sites in the 5' flanking region
    MAPPING cloned Y linked   status confirmed
    Map cen - SLC34A1 - D5S498 - qter
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    9 - 1921 - 340 - 2005 15613617
    13 - 2697 - 639 - 2005 15613617
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Respiratorylung    
    Urinarykidneynephron  predominantly
     kidneytubuleconvoluted tubuleproximal tubulehighly
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Urinaryepithelial cell
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • intracytoplasmic N terminal tail
  • eight TM segments
  • HOMOLOGY
    interspecies homolog to murine Slc34a1
    intraspecies homolog to NAPI2
    Homologene
    FAMILY
  • SLC34A transporter family
  • CATEGORY transport carrier
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,organelle,endosome
    text brush border membrane
    basic FUNCTION
  • phosphate transport protein, Na+ dependent
  • sodium-phosphate cotransporter, located in the proximal tubule, responsible for reclaiming most of the filtered phosphate load in a rate-limiting manner
  • control renal reabsorption of P i in the proximal tubule of mammals
  • SLC34A1, SLC34A2 expression seem regulated by phosphate in a manner consistent with their playing a role in transcellular P(i) flux during mineralization
  • wth SLC34A3 play important roles in the regulation of phosphate homeostasis
  • most important carrier accomplishing renal tubular phosphate transport across the apical brush border membrane of proximal renal tubules and thus renal tubular phosphate reabsorption
  • with SLC34A3, play distinct and synergistic roles in inorganic phosphate metabolism and skeletal development
  • main carrier accomplishing phosphate transport across the apical cell membrane of proximal renal tubules and thus renal tubular phosphate reabsorption
  • plays a critical role in reabsorption of inorganic phosphate (Pi) by renal proximal tubular cells
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule metal binding,
  • Na+
  • protein
  • SHANK2 is a distinctive PDZ domain protein that binds SLC34A1
  • SLC9A3R1 binds to the main renal phosphate transporter SLC34A1 and to the parathyroid hormone (PTH) receptor
  • SLC9A3R1 coordinating the assembly of an obligate ternary complex with SLC34A1 and the PKA-anchoring protein EZR to facilitate PTH-responsive cAMP signaling events
  • JAK2 contributes to the regulation of phosphate transporter SLC34A1
  • in trans-Golgi network (TGN), interacts with GOPC (PDZ-domain protein interacting specifically with TC10), a TGN-resident PDZ-domain-containing protein
  • PTH is a major regulator of both transcription and translation, and KHSRP binds SLC34A1 mRNA but its role in PTH regulation of SLC34A1 mRNA is not clear
  • cell & other
    REGULATION
    repressed by FGF23 (reduces renal absorption of phosphate by downregulating the sodium-phosphate cotransporter SLC34A1
    ASSOCIATED DISORDERS
    corresponding disease(s) FRTS2 , NPHLOP1
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional germinal mutation      
    a single amino acid substitution can lead to improper translocation of the protein to the cell membrane, disturbance of phosphate homeostasis, and renal calcification
    constitutional     --low  
    during lipopolysaccharide-induced acute inflammation
    Susceptibility for osteoporis with nephrolithiasis with hypophosphatemia
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS