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FLASH GENE
Symbol IER3IP1 contributors: mct - updated : 23-03-2016
HGNC name immediate early response 3 interacting protein 1
HGNC id 18550
Corresponding disease
MEDS microcephaly with simplified gyration, epilepsy, and permanent neonatal diabetes syndrome
Location 18q21.1      Physical location : 44.681.414 - 44.702.745
Synonym name HSPC039 protein
Synonym symbol(s) PRO2309, HSPC039, MEDS
DNA
TYPE functioning gene
STRUCTURE 21.35 kb     3 Exon(s)
MAPPING cloned Y linked N status provisional
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
3 - 1504 - 82 - 2010 19885854
EXPRESSION
Type ubiquitous
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Digestivesalivary gland   highly
Endocrinepancreas   highly Homo sapiens
Nervousbrainforebraincerebral cortex   Homo sapiens
Reproductivefemale systemovary   
 female systemuterus   
Skeletonaxial skeletonskull   
Urinarybladder   highly
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Blood / hematopoieticbone marrow   
Epithelialbarrier liningendometrium  
cells
SystemCellPubmedSpeciesStageRna symbol
Endocrineislet cell (alpha,beta...) Homo sapiens
cell lineage
cell lines
fluid/secretion
at STAGE
physiological period embryo
Text primitive neurectoderm
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • a G-patch domain involved in RNA binding
  • transmembrane domain at the C-terminus
  • HOMOLOGY
    Homologene
    FAMILY
    CATEGORY RNA associated
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    intracellular,cytoplasm,organelle,Golgi
    basic FUNCTION
  • having a catalytic activity
  • endoplasmic reticulum protein with its potential cellular function involved in cell differentiation and cell death processes
  • is involved in TNF-alpha-mediated cellular response to stressful conditions
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA RNA binding
    small molecule
    protein
  • IER3IP1 showed an increase in transcription in response to tumor necrosis factor alpha (TNF-alpha) in a time- and dose-dependent manner
  • IER3IP1, PPIB, EMC7, SPINT2, C14orf1/PEBP28, TMEM147, YIPF6, and KRTCAP2 interacting with SLC41A1
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) MEDS
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS