UniProtSummary | FUNCTION:SwissProt:Q9UKV0#Isoform3,calledMITR/HDRP,lacksactivesiteresiduesandthereforeiscatalyticallyinactive.RepressesMEF2-dependenttranscriptionbyrecruitingHDAC1and/orHDAC3.Seemstoinhibitskeletalmyogenesisandtobeinvolvedinheartdevelopment.Protectsneuronsfromapoptosis,bothbyinhibitingc-JunphosphorylationbyMAPK10andbyrepressingc-JuntranscriptionviaHDAC1recruitmenttoc-Junpromoter. SIZE:1011aminoacids;111297Da SUBUNIT:Homodimer.InteractswithCTBP1.Thephosphorylatedforminteractswith14-3-3(Bysimilarity).InteractswithHDAC1andHDAC3,andprobablywithHDAC4andHDAC5.InteractswithMEF2,MAPK10,ETV6,NCOR1andBCL6. SUBCELLULARLOCATION:Nucleus(Bysimilarity). TISSUESPECIFICITY:Broadlyexpressed,withhighestlevelsinbrain,heart,muscleandtestis.Isoform3ispresentinhumanbladdercarcinomacells(atproteinlevel). PTM:PhosphorylatedonSer-220andSer-450;whichpromotes14-3-3-binding,impairsinteractionwithMEF2,andantagonizesantimyogenicactivity.PhosphorylatedonSer-240;whichimpairsnuclearaccumulation(Bysimilarity).Isoform7isphosphorylatedonTyr-1010.&Sumoylated. DISEASE:SwissProt:Q9UKV0#AchromosomalaberrationinvolvingHDAC9isfoundinafamilywithPetersanomaly[MIM:604229].Translocationt(1;7)(q41;p21)withTGFB2resultinginlackofHDAC9protein.Petersanomalyconsistsofacentralcornealleukoma,absenceoftheposteriorcornealstromaandDescemetmembrane,andavariabledegreeofirisandlenticularattachmentstothecentralaspectoftheposteriorcornea. SIMILARITY:SwissProt:Q9UKV0##Belongstothehistonedeacetylasefamily.Type2subfamily. |