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FLASH GENE
Symbol DDRGK1 contributors: mct - updated : 13-12-2019
HGNC name DDRGK domain containing 1
HGNC id 16110
Corresponding disease
SEMDSH spondyloepimetaphyseal dysplasia, Shohat type
Location 20p13      Physical location : 3.171.017 - 3.185.295
Synonym name
  • hypothetical protein LOC65992
  • Dashurin
  • UFM1-binding protein 1 containing a PCI domain
  • Synonym symbol(s) MGC2592, dJ1187M17.3, C20orf116, UFBP1, C20orf116, SEMDSH
    DNA
    TYPE functioning gene
    STRUCTURE 14.28 kb     9 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    9 - 1298 35 314 - 2011 21494687
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Endocrinepancreas   highly Homo sapiens
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Endocrineislet cell (alpha,beta...) Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a PCI domain
  • HOMOLOGY
    Homologene
    FAMILY DDRGK domain-containing protein family
    CATEGORY unknown/unspecified
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    intracellular,nucleus,nucleolus
    text predominantly localizes in the endoplasmic reticulum
    basic FUNCTION
  • UFM1-DDRGK1 participate in preventing ER stress-induced apoptosis in protein secretory cells
  • DDRGK1 may play an important role in the NFKB1 signaling pathway
  • is indispensable for embryonic development and hematopoiesis
  • play pleiotropic roles in regulation of hematopoietic cell survival and differentiation via modulating ER homeostasis and erythroid lineage-specific gene expression
  • is essential for ER homoeostasis regulation
  • DDRGK1 may participate in the regulation of protein folding, stability, and trafficking
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • component of the UFM1 conjugation pathway (UFM1, DDRGK1, UFL1 and CDK5RAP3)
  • INTERACTION
    DNA
    RNA
    small molecule
    protein UFSP2 interacting with DDRGK1 (possibly interacts with the N-terminal domain of UFSP2 and recruits it to the ER)
  • DDRGK1 interacts with NFKBIA and regulates its stability, thereby regulates the NFKB1 transcriptional activity
  • is an ER membrane protein and a critical component of the ubiquitin-fold modifier 1 (UFM1) system
  • DDRGK1 regulates ERN1 protein stability via its interaction with the kinase domain of ERN1, which is dependent on its ufmylation modification
  • DDRGK1 can directly bind to SOX9 to inhibit its ubiquitination and proteasomal degradation
  • enhances the interaction between SLC25A6 and its E3 ligase and thus promotes its ubiquitination and degradation
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) SEMDSH
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional       loss of function
    led to elevated ER (endoplasmic reticulum) stress and activation of unfolded protein response (UPR), and consequently cell death of hematopoietic stem/progenitor cells
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
  • DDRGK1 in urine indicative of tubular cell injury in intensive care patients with serious infections
  • Therapy target
    ANIMAL & CELL MODELS
  • Ddrgk1 -/- mice displayed delayed limb bud chondrogenic condensation, decreased Sox9 protein expression and Col2a1 transcript levels, and increased apoptosis