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FLASH GENE
Symbol HDAC9 contributors: mct/npt - updated : 11-07-2012
HGNC name histone deacetylase 9
HGNC id 14065
Location 7p21.1      Physical location : 18.535.368 - 19.036.984
Synonym name
  • MEF2 interacting transcription repressor protein
  • histone deacetylase 7B
  • histone deacetylase 4/5-related protein
  • histone deacetylase 7
  • Synonym symbol(s) MITR, KIAA0744, HDA9, HD7, HDAC, HDAC7, HDAC7B, HDAC9B, HDAC9FL, HDRP, DKFZp779K1053
    DNA
    TYPE functioning gene
    SPECIAL FEATURE arranged in tandem
    STRUCTURE 501.62 kb     25 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence
    MAPPING cloned Y linked N status provisional
    Physical map
    LOC392952 7 similar to RIKEN cDNA 2810014D17 ODAG 7q21-q22 ocular development-associated gene PEX1 7q21-q22 peroxisome biogenesis factor 1 DKFZP564O0523 7q21.3 hypothetical protein DKFZp564O0523 MGC16142 7q21.3 hypothetical protein MGC16142 LOC392953 7 similar to hypothetical protein FLJ11767 MGC40405 7q21.3 hypothetical protein MGC40405 LOC389469 7 LOC389469 PRPS1L1 7p22-qter phosphoribosyl pyrophosphate synthetase 1-like 1 CDK6 7q21-q22 cyclin-dependent kinase 6 SNX13 7p21.3 sorting nexin 13 PRPS1L1 7p22-qter phosphoribosyl pyrophosphate synthetase 1-like 1 HDAC9 7p21-p15 histone deacetylase 9 FLJ20073 7q21.3 FLJ20073 protein FLJ39885 7q21.3 hypothetical protein FLJ39885 LOC392977 7 similar to TGF-beta receptor binding protein LOC253012 7q21.3 hypothetical protein LOC253012 FLJ20097 7q21.3 hypothetical protein FLJ20097 HDAC9 7p21-p15 histone deacetylase 9 CALCR 7q21.3 calcitonin receptor LOC392748 7 similar to ribosomal protein S27 TWIST1 7p21.2 twist homolog 1 (acrocephalosyndactyly 3; Saethre-Chotzen syndrome) (Drosophila) FERD3L 7p Fer3-like (Drosophila) LOC392954 7 similar to Protein C6orf66 (HSPC125) (My013 protein) NPM1P13 7p21.3 nucleophosmin 1 (nucleolar phosphoprotein B23, numatrin) pseudogene 13 TFPI2 7q22 tissue factor pathway inhibitor 2 GNGT1 7q21.3 guanine nucleotide binding protein (G protein), gamma transducing activity polypeptide 1 GNG11 7q21.3 guanine nucleotide binding protein (G protein), gamma 11 BET1 7q21.1-q22 BET1 homolog (S. cerevisiae) TWIST1 7p21.2 twist homolog 1 (acrocephalosyndactyly 3; Saethre-Chotzen syndrome) (Drosophila) FERD3L 7p Fer3-like (Drosophila)
    RNA
    TRANSCRIPTS type messenger
    text at least six transcripts
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    23 - 3149 111.3 1011 - 2010 20947501
    lacking exon 13
    26 - 4659 - 1066 - 2010 20947501
    a distinct C-terminus, compared to isoform 1
    19 - 2681 - 879 lung, liver, skeletal muscle 2010 20947501
    see MITR stop in exon 13
    12 - 4238 - 590 - 2010 20947501
  • MITRV3 (HDRP), also called HDAC9deltaCD)
  • lacking NLS (exon 7) a larger transcript in lung, and catalytic domain, protecting neurons from death
  • 21 - 4559 - 1069 - 2010 20947501
    a distinct C-terminus, compared to isoform 1
    - - 4265 - 562 - 2010 20947501
    - - 4118 - 513 - 2010 20947501
    - - 4304 - 549 - 2010 20947501
    - - 4126 - 546 - 2010 20947501
    - - 4463 - 588 - 2010 20947501
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart   highly
    Digestiveliver    
    Nervousbrain   highly
    Urinarykidney    
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Muscularstriatumskeletal  
    Muscularstriatumcardiac highly Homo sapiens
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Lymphoid/ImmuneT cell Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period embryo
    Text mature somites, myotomal muscle
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a N terminal non-catalytic domain, nuclear targeting domain involved in negative regulation of adipogenesis
  • an (alternatively spliced) nuclear localization signal (NLS)
  • unique motifs for MEF2 and 14-3-3 binding
  • HDAC-specific zinc binding CCHC motif may participate in TRIM29 recognition
  • a C terminal catalytic domain, and deacetylase domain dispensable for regulation of adipogenesis
  • HOMOLOGY
    interspecies ortholog to yeast hda 1
    intraspecies paralog to hdac4
    Homologene
    FAMILY
  • histone deacetylase family
  • type 2 subfamily
  • CATEGORY enzyme , transcription factor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus,chromatin/chromosome
    basic FUNCTION
  • playing a critical role in transcriptional regulation, cell cycle progression, and developmental events
  • histodeacetylase, repressor of MEF2 mediated transcription, acting as a signal-responsive suppressor of the transcriptional program governing cardiac hypertrophy and heart failure
  • in addition to its roles in heart development and in T cell functions, HDAC9 has a role in limb patterning by suppression of the sonic hedgehog signaling pathway
  • chromatin remodeling with nucleocytoplasmic translocation of HDAC9 regulates activity-dependent gene expression and dendritic growth in developing cortical neurons
  • regulates a wide variety of normal and abnormal physiological functions, including cardiac growth, T-regulatory cell function, neuronal disorders, muscle differentiation, development, and cancer
  • positive role for HDAC9 in gamma-globin gene regulation
  • function of HDAC9 and HDAC10 in the homologous recombination process
  • negative regulator of cardiomyocyte hypertrophy
  • critical regulatory role of HDAC9 in adipogenic differentiation, independent of its deacetylase activity
  • constitutively a nuclear protein in preadipocytes, and down-regulation of HDAC9 protein within the cell nucleus parallels adipogenic differentiation
  • inhibits adipogenesis at least in part by inhibiting transcriptional processes independently of its HDAC enzymatic activity
  • plays a key role in the development and differentiation of many types of cells, including regulatory T cells
  • acts as an epigenetic switch in effector T cell-mediated systemic autoimmunity
  • CELLULAR PROCESS nucleotide, chromatin organization, remodeling
    nucleotide, transcription, regulation
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • AES is one of the HDAC9-interacting proteins
  • interacting with TRIM29 (deacetylates TRIM29, alters the ability of TRIM29 to associate with TP53, and consequently inhibits the cell proliferation-promoting activity of TRIM29)
  • physically interacts with USF1 in preadipocytes
  • interacting with CEBPA and EP300 (induction of adipogenic differentiation promotes HDAC9 down-regulation and replacement by EP300 at the E-box site of the CEBPA gene promoter, thus switching on adipogenic gene expression)
  • plays a functional role in AGA (androgenetic alopecia) via interaction with the AR gene
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --low  
    upon induction of adipogenic differentiation
    Susceptibility to androgenetic alopecia
    Variant & Polymorphism SNP
  • rs756853 associated with androgenetic alopecia
  • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • mutant mice lacking Hdac9 are sensitized to hypertrophic signals and exhibit stress-dependent cardiomegaly