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FLASH GENE
Symbol SERGEF contributors: mct - updated : 08-06-2021
HGNC name secretion regulating guanine nucleotide exchange factor
HGNC id 17499
Location 11p15.1      Physical location : 17.809.598 - 18.034.637
Synonym name
  • deafness locus associated putative guanine nucleotide exchange factor
  • secretion regulating guanine nucleotide exchange factor
    • Synonym symbol(s) DELGEF, Gnefr
    EC.number 1.14.16.4
    DNA
    TYPE functioning gene
    STRUCTURE 225.04 kb     11 Exon(s)
    MAPPING cloned Y linked N status provisional
    regionally located localized near the DFNB18 and Usher syndrome (USH1C) region
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    - splicing 1264 - 288 mitochondria 2004 14980502
  • also called DELGEF2
  • resulting of alternative splicing of exon 9
    • 11 - 1515 49 458 cytoplasm and nucleus 2004 14980502
    also called DELGEF
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveliver   highly
    Nervousbrain    
    Reproductivemale systemprostate   
    Respiratorylung    
    Urinarykidney    
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • seven RCC1 repeats
    • HOMOLOGY
    interspecies homolog to Drosophila CG7420
    ortholog to murine Sergef
    intraspecies homolog to putative ran guanine exchange factor RCC1 (CHC1)
    Homologene
    FAMILY
    CATEGORY enzyme , signaling
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,mitochondria
    intracellular,cytoplasm,cytosolic
    intracellular,nucleus,nucleoplasm
    text variant 3 in the cytoplasm, variant 2 in the mitochondria
    basic FUNCTION
  • guanine nucleotide exchange factor for the small GTPase Ran
  • possible role for DELGEF in the secretion process
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling signal transduction
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • ZCSL2
  • interaction between DELGEF and EXOC2 was found to be dependent on Mg2+ and stimulated by guanosine triphosphate (GTP) or deoxycytidine triphosphate (dCTP)
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
  • biomarker for thyroid cancer exhibiting differences in the correlation coefficients between benign and malignant samples that indicate its discriminatory power
    • Therapy target
    ANIMAL & CELL MODELS