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FLASH GENE
Symbol PTTG1IP contributors: mct - updated : 23-01-2013
HGNC name pituitary tumor-transforming 1 interacting protein
HGNC id 13524
Location 21q22.3      Physical location : 46.269.512 - 46.293.741
Synonym name
  • chromosome 21 open reading frame 1
  • PTTG-binding factor
  • Synonym symbol(s) C21orf1, C21orf3, PBF
    DNA
    TYPE functioning gene
    STRUCTURE 24.32 kb     6 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence Promoter
    motif repetitive sequence
    text structure
  • variable number of tandem repeats (VNTR) polymorphism in the promoter, and functional regulatory variants of PTTG1IP were associated with the risk of ESR1 -positive breast cancer, further supporting its relevance as one proto-oncogene in breast cancer (
  • MAPPING cloned Y linked   status confirmed
    regionally located in the PGA1 (APECED) region
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    6 - 2843 - 180 - 2000 10781616
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveintestinesmall intestine  highly
    Lymphoid/Immunespleen   highly
    Skin/Tegumentskin   highly
    Urinarykidney   highly
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a putative motif for rapid internalization through coated-pit-mediated endocytosis
  • C-terminal 30-amino acid region that contain a nuclear localization signal and PTTG binding domain
  • HOMOLOGY
    Homologene
    FAMILY
    CATEGORY protooncogene
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm
    intracellular,nucleus
    basic FUNCTION
  • potentiates the transcriptional activation of basic fibroblast growth factor by PTTG1, and may facilitate PTTG1 nuclear translocation
  • protooncogene that is up-regulated in thyroid cancer
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • PTTG1 and its binding factor PTTG1IP repress expression of sodium iodide symporter (NIS) messenger RNA (mRNA), and inhibit iodide uptake
  • binds and alters the subcellular localization of SLC16A2
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --over  
    in thyroid cancer
    tumoral     --over  
    causes thyroid cell proliferation, macrofollicular lesions, and hyperplasia, as well as repression of the critical therapeutic route for radioiodide uptake
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    cancerendocrinethyroid
    novel target for improving radioiodine uptake and thus prognosis in thyroid cancer.
    ANIMAL & CELL MODELS