Human Gene HDAC9 (ENST00000686413.1_6) from GENCODE V47lift37
  Description: histone deacetylase 9, transcript variant 5 (from RefSeq NM_178425.4)
Gencode Transcript: ENST00000686413.1_6
Gencode Gene: ENSG00000048052.25_18
Transcript (Including UTRs)
   Position: hg19 chr7:18,535,372-19,042,039 Size: 506,668 Total Exon Count: 26 Strand: +
Coding Region
   Position: hg19 chr7:18,535,926-19,035,685 Size: 499,760 Coding Exon Count: 25 

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Gene AllelesMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr7:18,535,372-19,042,039)mRNA (may differ from genome)Protein (1069 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
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HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: HDAC9_HUMAN
DESCRIPTION: RecName: Full=Histone deacetylase 9; Short=HD9; EC=3.5.1.98; AltName: Full=Histone deacetylase 7B; Short=HD7; Short=HD7b; AltName: Full=Histone deacetylase-related protein; AltName: Full=MEF2-interacting transcription repressor MITR;
FUNCTION: Responsible for the deacetylation of lysine residues on the N-terminal part of the core histones (H2A, H2B, H3 and H4). Histone deacetylation gives a tag for epigenetic repression and plays an important role in transcriptional regulation, cell cycle progression and developmental events. Represses MEF2-dependent transcription.
FUNCTION: Isoform 3 lacks active site residues and therefore is catalytically inactive. Represses MEF2-dependent transcription by recruiting HDAC1 and/or HDAC3. Seems to inhibit skeletal myogenesis and to be involved in heart development. Protects neurons from apoptosis, both by inhibiting JUN phosphorylation by MAPK10 and by repressing JUN transcription via HDAC1 recruitment to JUN promoter.
CATALYTIC ACTIVITY: Hydrolysis of an N(6)-acetyl-lysine residue of a histone to yield a deacetylated histone.
ENZYME REGULATION: Inhibited by Trichostatin A (TSA) and suberoylanilide hydroxamic acid.
SUBUNIT: Homodimer. Interacts with CTBP1. The phosphorylated form interacts with 14-3-3 (By similarity). Interacts with HDAC1 and HDAC3, and probably with HDAC4 and HDAC5. Interacts with MEF2, MAPK10, ETV6, NCOR1 and BCL6.
INTERACTION: P41182:BCL6; NbExp=2; IntAct=EBI-765444, EBI-765407; P41212:ETV6; NbExp=3; IntAct=EBI-765476, EBI-1372759; Q60974:Ncor1 (xeno); NbExp=2; IntAct=EBI-765476, EBI-349004;
SUBCELLULAR LOCATION: Nucleus (By similarity).
TISSUE SPECIFICITY: Broadly expressed, with highest levels in brain, heart, muscle and testis. Isoform 3 is present in human bladder carcinoma cells (at protein level).
PTM: Phosphorylated on Ser-220 and Ser-450; which promotes 14-3-3- binding, impairs interaction with MEF2, and antagonizes antimyogenic activity. Phosphorylated on Ser-240; which impairs nuclear accumulation (By similarity). Isoform 7 is phosphorylated on Tyr-1010. Phosphorylated by the PKC kinases PKN1 and PKN2, impairing nuclear import.
PTM: Sumoylated.
DISEASE: Note=A chromosomal aberration involving HDAC9 is found in a family with Peters anomaly. Translocation t(1;7)(q41;p21) with TGFB2 resulting in lack of HDAC9 protein.
SIMILARITY: Belongs to the histone deacetylase family. HD type 2 subfamily.
SEQUENCE CAUTION: Sequence=BAA34464.2; Type=Erroneous initiation;

-  Primer design for this transcript
 

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To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: HDAC9
Diseases sorted by gene-association score: gastrointestinal neuroendocrine tumor (18), cutaneous t cell lymphoma (12), huntington disease (5), spinal muscular atrophy (3), hematologic cancer (2), colorectal cancer (2), adamantinoma of long bones (1)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
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+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -95.00316-0.301 Picture PostScript Text
3' UTR -1461.706354-0.230 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR000286 - His_deacetylse
IPR023801 - His_deacetylse_dom
IPR024643 - Hist_deacetylase_Gln_rich_N
IPR017320 - Histone_deAcase_II_euk

Pfam Domains:
PF00850 - Histone deacetylase domain
PF12203 - Glutamine rich N terminal domain of histone deacetylase 4

SCOP Domains:
52768 - Arginase/deacetylase

ModBase Predicted Comparative 3D Structure on Q9UKV0
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003714 transcription corepressor activity
GO:0004407 histone deacetylase activity
GO:0005080 protein kinase C binding
GO:0005515 protein binding
GO:0008134 transcription factor binding
GO:0016787 hydrolase activity
GO:0032041 NAD-dependent histone deacetylase activity (H3-K14 specific)
GO:0033558 protein deacetylase activity
GO:0042826 histone deacetylase binding
GO:0046872 metal ion binding
GO:0070491 repressing transcription factor binding

Biological Process:
GO:0000122 negative regulation of transcription from RNA polymerase II promoter
GO:0001975 response to amphetamine
GO:0006325 chromatin organization
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0006954 inflammatory response
GO:0007507 heart development
GO:0016575 histone deacetylation
GO:0030182 neuron differentiation
GO:0030183 B cell differentiation
GO:0032869 cellular response to insulin stimulus
GO:0034983 peptidyl-lysine deacetylation
GO:0042113 B cell activation
GO:0045892 negative regulation of transcription, DNA-templated
GO:0048742 regulation of skeletal muscle fiber development
GO:0051153 regulation of striated muscle cell differentiation
GO:0070932 histone H3 deacetylation
GO:0070933 histone H4 deacetylation
GO:0090050 positive regulation of cell migration involved in sprouting angiogenesis

Cellular Component:
GO:0000118 histone deacetylase complex
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005667 transcription factor complex
GO:0005737 cytoplasm
GO:0035097 histone methyltransferase complex


-  Descriptions from all associated GenBank mRNAs
  AJ459808 - Homo sapiens mRNA for histone decetylase 9b (HDAC9B gene).
AY032738 - Homo sapiens histone deacetylase 9a (HDAC9) mRNA, complete cds, alternatively spliced.
AY032737 - Homo sapiens histone deacetylase 9 (HDAC9) mRNA, complete cds, alternatively spliced.
AY197371 - Homo sapiens histone deacetylase 9 (HDAC9) mRNA, complete cds; alternatively spliced.
BC111735 - Homo sapiens histone deacetylase 9, mRNA (cDNA clone IMAGE:40036015), partial cds.
AK095820 - Homo sapiens cDNA FLJ38501 fis, clone HCHON1000176, moderately similar to Histone deacetylase 5.
AK304298 - Homo sapiens cDNA FLJ55607 complete cds, highly similar to Histone deacetylase 9.
AK097178 - Homo sapiens cDNA FLJ39859 fis, clone SPLEN2015094, moderately similar to Mus musculus histone deacetylase mHDA1 mRNA.
BC150328 - Homo sapiens histone deacetylase 9, mRNA (cDNA clone MGC:167816 IMAGE:8860495), complete cds.
AB018287 - Homo sapiens KIAA0744 mRNA for KIAA0744 protein.
BC152405 - Homo sapiens histone deacetylase 9, mRNA (cDNA clone MGC:176629 IMAGE:8862508), complete cds.
AK297404 - Homo sapiens cDNA FLJ61317 complete cds, highly similar to Histone deacetylase 9.
AK316109 - Homo sapiens cDNA, FLJ79008 complete cds, highly similar to Histone deacetylase 9.
AY429540 - Homo sapiens HDAC9v_1 mRNA sequence; alternatively spliced.
AK296214 - Homo sapiens cDNA FLJ53343 complete cds, highly similar to Histone deacetylase 9.
CR749550 - Homo sapiens mRNA; cDNA DKFZp779K1053 (from clone DKFZp779K1053).
EU832248 - Synthetic construct Homo sapiens clone HAIB:100067277; DKFZo004F0926 histone deacetylase 9 protein (HDAC9) gene, encodes complete protein.
EU832154 - Synthetic construct Homo sapiens clone HAIB:100067183; DKFZo008F0925 histone deacetylase 9 protein (HDAC9) gene, encodes complete protein.
AB385379 - Synthetic construct DNA, clone: pF1KA0744, Homo sapiens HDAC9 gene for histone deacetylase 9, complete cds, without stop codon, in Flexi system.
EU832247 - Synthetic construct Homo sapiens clone HAIB:100067276; DKFZo004F0826 histone deacetylase 9 protein (HDAC9) gene, encodes complete protein.
AK304410 - Homo sapiens cDNA FLJ54580 complete cds, highly similar to Histone deacetylase 9.
AK304343 - Homo sapiens cDNA FLJ54577 complete cds, highly similar to Histone deacetylase 9.
AF124924 - Homo sapiens histone deacetylase HDAC7 (HDAC7) mRNA, partial cds.
BC092441 - Homo sapiens cDNA clone IMAGE:30411148.
JD483634 - Sequence 464658 from Patent EP1572962.
JD436275 - Sequence 417299 from Patent EP1572962.
JD205674 - Sequence 186698 from Patent EP1572962.
JD360021 - Sequence 341045 from Patent EP1572962.
JD339782 - Sequence 320806 from Patent EP1572962.
JD383235 - Sequence 364259 from Patent EP1572962.
JD301809 - Sequence 282833 from Patent EP1572962.
JD123005 - Sequence 104029 from Patent EP1572962.
JD392056 - Sequence 373080 from Patent EP1572962.
JD429236 - Sequence 410260 from Patent EP1572962.
JD358135 - Sequence 339159 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  BioCarta from NCI Cancer Genome Anatomy Project
h_ranbp2Pathway - Sumoylation by RanBP2 Regulates Transcriptional Repression
h_MITRPathway - Signal Dependent Regulation of Myogenesis by Corepressor MITR

Reactome (by CSHL, EBI, and GO)

Protein Q9UKV0 (Reactome details) participates in the following event(s):

R-HSA-1912388 NICD1 displaces co-repressor complex from RBPJ (CSL)
R-HSA-2220982 NICD1 PEST domain mutants displace co-repressor complex from RBPJ (CSL)
R-HSA-2122947 NOTCH1 Intracellular Domain Regulates Transcription
R-HSA-2644606 Constitutive Signaling by NOTCH1 PEST Domain Mutants
R-HSA-2894862 Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants
R-HSA-1980143 Signaling by NOTCH1
R-HSA-2644602 Signaling by NOTCH1 PEST Domain Mutants in Cancer
R-HSA-2894858 Signaling by NOTCH1 HD+PEST Domain Mutants in Cancer
R-HSA-157118 Signaling by NOTCH
R-HSA-2644603 Signaling by NOTCH1 in Cancer
R-HSA-162582 Signal Transduction
R-HSA-5663202 Diseases of signal transduction
R-HSA-1643685 Disease

-  Other Names for This Gene
  Alternate Gene Symbols: A7E2F3, B7Z4I4, B7Z917, B7Z928, B7Z940, C9JS87, E7EX34, F8W9E0, HDAC7, HDAC7B, HDAC9_HUMAN, HDRP, KIAA0744, MITR, NM_178425, O94845, O95028, Q2M2R6, Q86SL1, Q86US3, Q9UKV0, uc330pma.1, uc330pma.2
UCSC ID: ENST00000686413.1_6
RefSeq Accession: NM_178425.4
Protein: Q9UKV0 (aka HDAC9_HUMAN or HDA9_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
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