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FLASH GENE
Symbol MIPOL1 contributors: mct/npt - updated : 25-11-2009
HGNC name mirror-image polydactyly 1
HGNC id 21460
Corresponding disease
TMIP tetramelic mirror-image polydactyly
Location 14q21.1      Physical location : 37.667.117 - 38.020.463
Synonym symbol(s) DKFZp313M2036, MGC34010
DNA
TYPE functioning gene
STRUCTURE 353.31 kb     14 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status provisional
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
14 - 2568 - 442 - Cheung (2009)
EXPRESSION
Type
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Cardiovascularheart    
 vessel    
Digestiveliver    
 mouthtongue   
Endocrinepancreas    
Reproductivemale systemprostate   
Urinarybladder    
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Muscularstriatumskeletal  
cell lineage
cell lines
fluid/secretion
at STAGE
physiological period fetal
Text kidney
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • rodlike tail sequence highly repetitive
  • an heptapeptide repeat pattern characteristic of alpha-helical coiled coils
  • HOMOLOGY
    interspecies ortholog to murine Mipol1
    Homologene
    FAMILY
  • VDP/USO1/YBL047C family
  • CATEGORY tumor suppressor , transport carrier
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    intracellular,cytoplasm,organelle,Golgi
    intracellular,nucleus
    text localizes mainly to the nucleus (Cheung 2009)
    basic FUNCTION
  • required for protein transport from the ER to the Golgi complex
  • play an essential role in NPC development and is a candidate tumor suppressor gene (Cheung 2009)
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) TMIP
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --low  
    by hypermethylation in nasopharyngeal carcinoma (Cheung 2009)
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS