Selected-GenAtlas references SOURCE GeneCards NCBI Gene Swiss-Prot Orphanet Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
FLASH GENE
Symbol SNX3 contributors: mct - updated : 13-05-2011
HGNC name sorting nexin 3
HGNC id 11174
Corresponding disease
MMEP microcephaly, microphthalmia, ectrodactyly of lower limbs, prognathism
Location 6q21      Physical location : 108.532.717 - 108.582.464
Synonym symbol(s) SDP3, SNX3A, Grd19, MCOPS8
DNA
TYPE functioning gene
STRUCTURE 49.75 kb     4 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status confirmed
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
3 - 1401 - 130 - 1998 9819414
4 - 1497 - 162 - 1998 9819414
EXPRESSION
Type ubiquitous
constitutive of
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Digestivepancreas exocrine   moderately
 salivary gland   highly
Endocrineadrenal gland   moderately
 neuroendocrinepituitary  highly
 parathyroid   highly
Lymphoid/Immunethymus    
Nervousbrain    
Respiratorylung    
Urinarybladder   highly
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Blood / hematopoieticbone marrow  moderately
Connectiveadipose  moderately
Lymphoid    
cell lineage
cell lines
fluid/secretion
at STAGE
physiological period embryo
Text primitive neurectoderm
PROTEIN
PHYSICAL PROPERTIES Hydrophilic
STRUCTURE
motifs/domains
  • a phox homology domain (PX)
  • C-terminus, as well as the PX domain, has a functional binding sequence with phosphatidylinositol monophosphates
  • conjugated Other
    mono polymer homomer , heteromer , polymer
    HOMOLOGY
    interspecies homolog to murine Snx3 (100 pc)
    Homologene
    FAMILY
  • sorting nexin family
  • CATEGORY transport carrier
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,Golgi
    intracellular,cytoplasm,organelle,endosome
    basic FUNCTION
  • may be involved in several stages of intracellular trafficking
  • functions as a cargo-specific adapter for the retromer complex, establishing a precedent for a mechanism by which sorting nexins expand the repertoire of retromer-dependent cargos
  • Phox (PX) domain-containing proteins involved in endosomal sorting, and regulating neurite outgrowth
  • potential regulator of neurite formation and it contains another functional phosphatidylinositol phosphate-binding region at the C-terminus
  • plays a significant role in regulating the maturation of Salmonella-containing vacuole (SCV)
  • may potentially play an important role in the development and function of the CNS
  • has an evolutionarily conserved function in WLS recycling and WNT secretion
  • CELLULAR PROCESS cell communication
    PHYSIOLOGICAL PROCESS endocytosis transport , cellular trafficking transport
    text
  • protein transport
  • PATHWAY
    metabolism
    signaling
    a component
  • homo, hetero oligomers with SNX1, SNX2, SNX4, SNX15
  • acetylated
  • HGS and SNX3 functions in sorting and membrane invagination within multivesicular bodies
  • part of an alternative retromer pathway that functionally separates the retrograde transport of Wls from other retromer cargo
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • EGF receptor (EGFR)
  • platelets derived growth factor receptors (PDGFRA, PDGFRB)
  • insulin receptor (INSR)
  • part of an alternative retromer pathway that functionally separates the retrograde transport of WLS from other retromer cargo
  • acts as a cargo-specific component of retromer, which is required for endocytic recycling of WLS and Wg/WNT secretion
  • cell & other
  • binding to phosphoinositide
  • REGULATION
    activated by lithium
    ASSOCIATED DISORDERS
    corresponding disease(s) MMEP
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional   deletion    
    in a patient with t(6;13)(q21;q12) and microcephaly, microphthalmia, ectrodactyly, and prognathism
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS