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FLASH GENE
Symbol PHIP contributors: mct - updated : 05-01-2016
HGNC name pleckstrin homology domain interacting protein
HGNC id 15673
Location 6q14.1      Physical location : 79.644.136 - 79.788.011
Synonym name
  • DDB1 and CUL4 associated factor 14
  • IRS-1 PH domain-binding protein
  • PH-interacting protein
  • Synonym symbol(s) ndrp, FLJ20705, DCAF14, BRWD2
    DNA
    TYPE functioning gene
    STRUCTURE 143.88 kb     40 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned   linked   status
    Physical map
    C6orf67 6q14.1 chromosome 6 open reading frame 67 FILIP1 6q14.1 filamin A interacting protein 1 SUSP1 6q13-q14.3 filamin A interacting protein 1 MYO6 6q13 myosin VI IMPG1 6q14.2-q15 interphotoreceptor matrix proteoglycan 1 HTR1B 6q13 5-hydroxytryptamine (serotonin) receptor 1B IRAK1BP1 6q14-q15 interleukin-1 receptor-associated kinase 1 binding protein 1 PHIP 6q14 pleckstrin homology domain interacting protein HMGN3 6q15 high mobility group nucleosomal binding domain 3 LOC153959 6q14.3 hypothetical LOC153959 DBIL2 6q12-q21 diazepam binding inhibitor-like 2 (a pseudogene) C6orf152 6q14.3 chromosome 6 open reading frame 152 SH3BGRL2 6q13-15 SH3 domain binding glutamic acid-rich protein like 2 ELOVL4 6q14 elongation of very long chain fatty acids (FEN1/Elo2, SUR4/Elo3, yeast)-like 4 LOC391944 6 similar to Glyceraldehyde 3-phosphate dehydrogenase, liver (GAPDH) TTK 6q12-q21 TTK protein kinase LOC285786 6q14.3 similar to KIAA1424 protein LOC389412 6 similar to Rho GTPase activating protein 21; Rho-GTPase activating protein 10 BCKDHB 6p22-p21 branched chain keto acid dehydrogenase E1, beta polypeptide (maple syrup urine disease) LOC391945 6 similar to 60S ribosomal protein L17 (L23) LOC340171 6q14.3 hypothetical LOC340171 LOC153956 6q14.3 similar to citrate (si)-synthase (EC 4.1.3.7) precursor - pig C6orf37 6q14 chromosome 6 open reading frame 37 LOC389413 6 LOC389413 IBTK 6q14.3 inhibitor of Bruton agammaglobulinemia tyrosine kinase TPBG 6q14-q15 trophoblast glycoprotein
    RNA
    TRANSCRIPTS type
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    40 - 11966 206.7 1821 - 2000 11018022
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Endocrinepancreasislet of Langerhans  highly
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Endocrineislet cell (alpha,beta...)
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • WD40 repeats
  • HOMOLOGY
    Homologene
    FAMILY
    CATEGORY
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus
    text prominent expression restricted to the nucleus
    basic FUNCTION
  • novel protein ligand of the IRS1 PH domain that may serve to link IRS1 to the insulin receptor
  • regulates insulin receptor-stimulated SLC2A4 translocation in skeletal-muscle cells
  • may be involved in the induction of long-term gene expression programs to promote beta-cell mitogenesis and survival
  • regulates postnatal growth in an IGF11/AKT pathway-independent manner
  • PHIP can regulate the expression of upstream mediators of the IGF axis and downstream mediators of tumor cell invasion
  • is a molecular mediator of melanoma progression that also appears to function in the setting of a subset of triple-negative melanomas
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • selectively binds to the PH domain of IRS1 and stably associates with IRS1
  • proinvasive role of PHIP is mediated, at least in part, by activating TLN1 and AKT1
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --over  
    stimulates insulin-like growth factor 1-dependent and -independent proliferation of beta-cells, an event which correlates with transcriptional upregulation of the cyclin D2 promoter and the accumulation of cyclin D2 protein
    tumoral       gain of function
    promotes melanoma metastasis
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
  • is a molecular prognostic marker of melanoma, revealing a significant linkage between PHIP levels and ulceration
  • Therapy target
    ANIMAL & CELL MODELS