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FLASH GENE
Symbol SEC16A contributors: mct - updated : 05-09-2015
HGNC name SEC16 homolog A (S. cerevisiae)
HGNC id 29006
Location 9q34.3      Physical location : 139.334.548 - 139.377.507
Synonym name SEC16 homolog A
Synonym symbol(s) KIAA0310, p250, RP11-413M3.10, SEC16L, FLJ26737, SEC16
EC.number 3.1.3.36
DNA
TYPE functioning gene
STRUCTURE 42.96 kb     32 Exon(s)
MAPPING cloned Y linked N status confirmed
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
32 - 9059 251.8 2357 - 2007 17192411
EXPRESSION
Type
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Cardiovascularheart   highly
Digestivemouth   moderately
 pancreas exocrine   highly
 stomach   moderately
Endocrineparathyroid   highly
Lymphoid/Immunelymph node   predominantly
Nervousnerve   highly
Reproductivefemale systemuteruscervix moderately
Respiratorylung   moderately
 respiratory tracttrachea  moderately
Urinarykidney   moderately
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Connectivebone  moderately
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • a central conserved domain binding to SEC13 linking tER (transitional ER) membrane localisation with COPII vesicle formation
  • mono polymer heteromer , complex
    HOMOLOGY
    interspecies homolog to rattus Sec16a (76.1 pc)
    homolog to murine Sec16a (71.6 pc)
    intraspecies homolog to Col4A5
    Homologene
    FAMILY
  • SEC16 family
  • CATEGORY enzyme , transport
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    intracellular,cytoplasm,organelle,Golgi
    intracellular,cytoplasm,cytosolic
    text
  • SAR1A activity required to maintain SEC16A localization at discrete locations on the ER membrane (perhaps by preventing its dissociation)
  • mostly cytosolic
  • remains associated with ER exit sites throughout mitosis
  • basic FUNCTION
  • defining endoplasmic reticulum exit sites (ERES) by SAR1A-GTP-dependent assembly on the ER membrane
  • being required for secretory cargo trafic from the endoplasmic reticulum to the Golgi apparatus
  • required for normal transitional endoplasmic reticulum (tER) organization
  • acting as a phosphoinositide 5-phosphatase
  • acts as a platform for COPII assembly at ER-exit sites
  • unlike all other COPII components, which are cytosolic during metaphase, remains associated with ER exit sites throughout mitosis, and thereby could provide a template for the rapid assembly of functional export domains in anaphase
  • SEC16A and RAB10 promote insulin-stimulated mobilization of SLC2A4 from a perinuclear recycling endosome/TGN compartment
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS cellular trafficking transport
    text ER-Golgi transport
    PATHWAY
    metabolism
    signaling
    a component
  • present in multiple copies in a heteromeric complex with SEC16B (in multiple copies also)
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interacting with SEC23A
  • TFG is a regulator of protein secretion that interacts directly with SEC16A
  • SEC16A is a RAB10 effector required for insulin-stimulated SLC2A4 trafficking in adipocytes
  • mammalian ER exit sites are organized by MIA3 acting as a scaffold, in cooperation with SEC16A for efficient secretion
  • cell & other
    REGULATION
    Other phosphorylated upon DNA damage, probably by ATM or ATR
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Susceptibility to Ankylosing spondylitis (AS)
    Variant & Polymorphism other
  • presence of rare syntenic SEC16A and MAMDC4 deletions that increases susceptibility to Ankylosing spondylitis (AS) in family members who carry the HLA-B*27 allele
  • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS