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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
    Physical map
    ICOSL 21q22.3 inducible T-cell co-stimulator ligand DNMT3L 21q22.3 DNA (cytosine-5-)-methyltransferase 3-like AIRE 21q22.3 autoimmune regulator (autoimmune polyendocrinopathy candidiasis ectodermal dystrophy) PFKL 21q22.3 phosphofructokinase, liver C21orf2 21q22.3 chromosome 21 open reading frame 2 TRPM2 21q22.3 transient receptor potential cation channel, subfamily M, member 2 LRRC3 21q22.3 leucine-rich repeat-containing 3 C21orf29 21q22.3 chromosome 21 open reading frame 29 C21orf90 21q22.1 chromosome 21 open reading frame 90 KRTAP10-10 21q22.3 keratin associated protein 10-10 KRTAP12-2 21q22.3 keratin associated protein 12-2 IMMTP 21q22.3 inner membrane protein, mitochondrial (mitofilin) pseudogene KRTAP12-1 21q22.3 keratin associated protein 12-1 UBE2G2 21q22.3 ubiquitin-conjugating enzyme E2G 2 (UBC7 homolog, yeast) SMT3H1 21q22.3 SMT3 suppressor of mif two 3 homolog 1 (yeast) PTTG1IP 21q22.3 pituitary tumor-transforming 1 interacting protein ITGB2 21q22.3 integrin, beta 2 (antigen CD18 (p95), lymphocyte function-associated antigen 1; macrophage antigen 1 (mac-1) beta subunit) C21orf69 21q22.3 chromosome 21 open reading frame 69 C21orf67 21q22.3 chromosome 21 open reading frame 67 C21orf70 21q22.3 chromosome 21 open reading frame 70 LOC391283 21 similar to interspersed repeat antigen, putative C21orf122 21q22.3 chromosome 21 open reading frame 122 ADARB1 21q22.3 adenosine deaminase, RNA-specific, B1 (RED1 homolog rat) C21orf89 21q22.1 chromosome 21 open reading frame 89 C21orf80 21q22.3 chromosome 21 open reading frame 80 C21orf86 21q22.1 chromosome 21 open reading frame 86 C21orf93 21q22.1 chromosome 21 open reading frame 93 LOC388830 21 similar to PRED59 COL18A1 21q22.3 collagen, type XVIII, alpha 1
    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