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FLASH GENE
Symbol HMGA1 contributors: mct/pgu - updated : 31-08-2016
HGNC name high mobility group AT-hook 1
HGNC id 5010
Location 6p21.31      Physical location : 34.204.576 - 34.214.007
Synonym name
  • high-mobility group (nonhistone chromosomal) protein isoforms I and Y
  • nonhistone chromosomal high-mobility group protein HMG-I/HMG-Y
  • high mobility group protein R
  • Synonym symbol(s) HMGIY, EVI130, HMGR, MGC12816, HMGA1A, MGC4854, MGC4242
    DNA
    TYPE functioning gene
    STRUCTURE 9.43 kb     6 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence Binding site
    text structure an active AP1 site
    MAPPING cloned Y linked N status confirmed
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    6 splicing 1998 - 96 - 2004 14729942
    variant 2, isoform b
    6 splicing 2031 11.7 107 - 2004 14729942
    variant 1, isoform a
    5 splicing 2198 11.7 107 - 2011 21329653
  • variant 3, HMGA1a
  • well known for its oncogenic potential as a transcription factor
  • specifically binds to a sequence adjacently upstream D3 in HIV-1
  • involved in specific splice site regulation of HIV-1
  • 5 splicing 2165 - 96 - 2004 14729942
    variant 4, isoform b
    5 splicing 1884 - 96 - 2004 14729942
    variant 5, isoform b
    5 splicing 1887 - 96 - 2004 14729942
    variant 7, isoform b
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Lymphoid/Immunespleen   highly
     thymus   highly
     tonsils   highly
    Reproductivefemale systemovary  highly
    Skin/Tegumentskin   highly
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • AT hooks motifs
  • HOMOLOGY
    interspecies homolog to murine Hmga1
    Homologene
    FAMILY
  • HMGA family
  • CATEGORY transcription factor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus
    basic FUNCTION
  • architectural transcription factor, enhancing the transcriptional activity of promoters containing the estrogen response element (ERE) and increasing binding of the estrogen receptor (ESR) to ERE
  • organizing the framework of nucleoprotein-DNA transcriptional complex
  • involved in enhanceosome assembly
  • enhancing the transcriptional activity and binding of the estrogen receptor to its responsive element
  • binds directly to HAND1 promoter and inhibits Hand1 promoter activity (PMID :
  • involved in proliferation and gastric tumor formation via the Wnt/beta-catenin pathway
  • able to establish a specific chromatin composition
  • modulates the transcription of TP53 target genes such as MDM2, CDKN1A, and BAC, inhibiting apoptosis
  • has a role in alternative splicing of HIV-1 genomic RNA through binding to a specific site in Vpr RNA
  • are able to create DNA loops and supercoils in linearized DNA confirming the cross-linking ability of HMGA1a
  • HMGA1 is required selectively for promoter containing both a TATA box and an Initiator (INR) but not TATA-mediated transcription
  • CELLULAR PROCESS nucleotide, chromatin organization
    nucleotide, transcription, regulation
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA binding in in the region -3506 to -3375 of the NOS2 promoter
    RNA
    small molecule
    protein
  • cooperating with either the N- or the C-terminal transcriptional activation domain of ESR1 and ESR2
  • new target for MYCN in neuroblastomas
  • is a substrate for PRMT6, having a modulatory role on the methyltransferase activity of PRMT6
  • a putative defect in POU2F1 and/or POU2F2, by affecting HMGA1 expression, may cause INSR dysfunction, leading to defects of the INSR signaling pathway
  • KIFC1, activated by TCF4, functions as an oncogene and promotes HCC pathogenesis through regulating HMGA1 transcriptional activity
  • cell & other
    REGULATION
    repressed by MIR16-1 that negatively regulate two new targets, HMGA1 and caprin-1, which are involved in cell proliferation) (
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral   translocation    
    in benign mesenchymal tumors, as pulmonary chondroid hamartoma,endometrial polyps,pleomorphic adenoma of the salivary glands,microfollicular adenoma of the thyroid, uterine leiomyoma and lipoma
    tumoral     --over  
    in gastric cancer
    constitutional     --low  
    in insulin resistance and type 2 diabetes
    tumoral       loss of function
    deregulated in neuroblastoma
    constitutional     --other  
    rearrangement of HMGA1 and HMGA2 genes likely contributes to endometriosis
    Susceptibility to Alzheimer disease
    Variant & Polymorphism other deletion in exon 8 in insulin resistance and type 2 diabetes
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS