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FLASH GENE
Symbol HIVEP1 contributors: mct/npt/pgu - updated : 12-05-2010
HGNC name human immunodeficiency virus type I enhancer binding protein 1
HGNC id 4920
Location 6p24.1      Physical location : 12.012.723 - 12.165.231
Synonym name
  • zinc finger protein 40
  • Schnurri-1
  • cirhin interaction protein
  • major histocompatibility complex binding protein 1
  • gate keeper of apoptosis-activating protein
    • Synonym symbol(s) ZNF40, MBP1, ZAS2, CIRIP, PERDII-BF1, MBP-1, CRYBP1, ZNF40A, ZAS1, HIV-EP1, GAAP
    DNA
    TYPE functioning gene
    STRUCTURE 152.51 kb     9 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    Map pter - D6S1446 - D6S1034 - D6S1279 - HIVEP1 - D6S961 - D6S1721 - D6S1077 - D6S1491 - D6S1593 - D6S443 - D6S1578 - D6S429 - D6S259 - CD83 - D6S289 - cen
    Physical map
    LOC346096 6p24.1 similar to Rpl7a protein LOC391868 6 similar to 60S ribosomal protein L21 LOC391869 6 similar to ribosomal protein L7-like 1 TFAP2A 6p24.3-p24.2 transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha) MGC40222 6p24.1 hypothetical protein MGC40222 MRPL48P1 6p24.1 mitochondrial ribosomal protein L48 pseudogene 1 GCNT2 6p24.1 glucosaminyl (N-acetyl) transferase 2, I-branching enzyme LOC389366 6 similar to C6orf52 protein PAK1IP1 6p24.1 PAK1 interacting protein 1 C6orf53 6p24.1 chromosome 6 open reading frame 53 TMEM14B 6p25.1-p23 transmembrane protein 14B MAK 6q22 male germ cell-associated kinase GCM2 6p23 glial cells missing homolog 2 (Drosophila) LOC221711 6p24.1 hypothetical protein LOC221711 ELOVL2 6p22.3 elongation of very long chain fatty acids (FEN1/Elo2, SUR4/Elo3, yeast)-like 2 LOC389367 6 LOC389367 LOC389368 6 similar to hypothetical protein D930020E02 NEDD9 6p25-p24 neural precursor cell expressed, developmentally down-regulated 9 C6orf105 6p24.1 chromosome 6 open reading frame 105 LOC389369 6 LOC389369 HIVEP1 6p24.1 human immunodeficiency virus type I enhancer binding protein 1 EDN1 6p24.1 endothelin 1 RPEL1 6p23 RPEL repeat containing 1 TBC1D7 6p23 TBC1 domain family, member 7 GFOD1 6pter-p22.1 glucose-fructose oxidoreductase domain containing 1 C6orf114 6p23 chromosome 6 open reading frame 114 LOC391870 6 similar to ribosomal protein S4, X-linked SIRT5 6p23 sirtuin (silent mating type information regulation 2 homolog) 5 (S. cerevisiae) RARG-1 RANBP9 6p23 RAN binding protein 9 C6orf79 6p24.3-p23 chromosome 6 open reading frame 79
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    9 - 8891 - 2718 - 2010 20226436
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart    
    Nervousbrain    
    Respiratorylung    
    Urinarykidney    
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Blood / Hematopoietic    
    Lymphoid    
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Blood/Hematopoieticmonocyte
    Blood/Hematopoieticplatelet
    Cardiovascularendothelial cell
    Lymphoid/ImmuneB cell
    Lymphoid/Immunemacrophage
    cell lineage
    cell lines retinal cell lines, Hela cells
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • two sets of two zinc fingers being widely separated
  • a fifth zinc finger in-between (C2H2 type, Krüppel-like)
  • ZAS1 and ZAS2 motifs
  • eight T/SPRX/K motifs
    • HOMOLOGY
    interspecies ortholog to murine Hivep1
    homolog to Drosophila shn
    homolog to C.elegans R11A8.7B
    intraspecies paralog to HIVEP2,HIVEP3
    Homologene
    FAMILY
  • Schnurri protein family
    • CATEGORY transcription factor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus,chromatin/chromosome
    intracellular,nucleus,nucleolus
    text nucleolar protein
    basic FUNCTION
  • involved in transcriptional activation and repressing C-myc transcription
  • inducing mitochondrial involvement in the apoptotic process
  • participates in the transcriptional regulation of inflammatory target genes by binding specific DNA sequences in their promoter and enhancer regions
  • directly participate in the transcriptional regulation of a variety of genes by binding to their promoter NF-KB consensus sequences
  • unique and redundant functions reside in the Schnurri protein family that are required for proper skeletal patterning and remodeling
    • CELLULAR PROCESS nucleotide, transcription, regulation
    PHYSIOLOGICAL PROCESS
    text transcriptional activator
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA binding to enhancer MHC sequence
  • binding to a positive regulating domain of the IFN-beta promoter
  • binding to 5'-GGGACTTTCC-3' sequence which is found in the enhancer elements of numerous viral promoters such as those of SV40,CMV or HIV1
    • RNA
    small molecule metal binding,
  • Zn2+
    • protein
  • binding to MHC,positive regulatory domain II (HIV - EP1/MBP1/PRDII - BF1)
  • HIVEP1-CIRH1A interaction (CIRH1A up-regulates a canonical NF-kappaB element through strong interaction with HIVEP1)
    • cell & other
    REGULATION
    induced by mitogen,serum,virus and phorbol ester
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Susceptibility to venous thrombosis
    Variant & Polymorphism other rs169713C allele associated with an increased risk for venous thrombosis
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS