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Details on Person UniProt:O15550 KDM6A

Class:IdReferenceGeneProduct:67056
_chainChangeLogchain:1-1401 added on Fri February 6 2015
_displayNameUniProt:O15550 KDM6A
_timestamp2025-02-21 18:57:55
chainchain:1-1401
checksum9DD7EA6C61E79229
commentFUNCTION Histone demethylase that specifically demethylates 'Lys-27' of histone H3, thereby playing a central role in histone code (PubMed:17713478, PubMed:17761849, PubMed:17851529). Demethylates trimethylated and dimethylated but not monomethylated H3 'Lys-27' (PubMed:17713478, PubMed:17761849, PubMed:17851529). Plays a central role in regulation of posterior development, by regulating HOX gene expression (PubMed:17851529). Demethylation of 'Lys-27' of histone H3 is concomitant with methylation of 'Lys-4' of histone H3, and regulates the recruitment of the PRC1 complex and monoubiquitination of histone H2A (PubMed:17761849). Plays a demethylase-independent role in chromatin remodeling to regulate T-box family member-dependent gene expression (By similarity).CATALYTIC ACTIVITY N(6),N(6),N(6)-trimethyl-L-lysyl(27)-[histone H3] + 2 2-oxoglutarate + 2 O2 = N(6)-methyl-L-lysyl(27)-[histone H3] + 2 formaldehyde + 2 succinate + 2 CO2COFACTOR Interacts with TLE1 (By similarity). Component of the MLL2/3 complex (also named ASCOM complex), at least composed of KMT2D/MLL2 or KMT2C/MLL3, ASH2L, RBBP5, WDR5, NCOA6, DPY30, KDM6A (or KDM6B), PAXIP1/PTIP, PAGR1 and alpha- and beta-tubulin (PubMed:17500065, PubMed:17713478). Interacts with SUPT6H. Interacts with SMARCA4 (By similarity). Interacts with PROSER1 (PubMed:34667079).INTERACTION The disease is caused by variants affecting the gene represented in this entry.MISCELLANEOUS Escapes X chromosome inactivation.SIMILARITY Belongs to the UTX family.
descriptionrecommendedName: Lysine-specific demethylase 6A ecNumber evidence="8 9 10 11"1.14.11.68 alternativeName: Histone demethylase UTX alternativeName: Ubiquitously-transcribed TPR protein on the X chromosome alternativeName: Ubiquitously-transcribed X chromosome tetratricopeptide repeat protein alternativeName: fullName evidence="16"[histone H3]-trimethyl-L-lysine(27) demethylase 6A
geneNameKDM6A
UTX
identifierO15550
isSequenceChangedFALSE
keyword3D-structure
Chromatin regulator
Dioxygenase
Intellectual disability
Iron
Metal-binding
Methylation
Nucleus
Oxidoreductase
Phosphoprotein
Proteomics identification
Reference proteome
Repeat
TPR repeat
Zinc
modified[InstanceEdit:9836292] Weiser, Joel, 2023-05-25
[InstanceEdit:9852000] Weiser, Joel, 2023-11-03
[InstanceEdit:9917590] Weiser, Joel, 2024-08-09
[InstanceEdit:9926675] Weiser, Joel, 2024-11-03
[InstanceEdit:9939033] Weiser, Joel, 2025-02-21
nameKDM6A
referenceDatabase[ReferenceDatabase:2] UniProt
referenceGene[ReferenceDNASequence:9004189] ENSEMBL:ENSG00000147050 KDM6A [Homo sapiens]
secondaryIdentifierKDM6A_HUMAN
Q52LL9
Q5JVQ7
sequenceLength1401
species[Species:48887] Homo sapiens
(referenceEntity)[EntityWithAccessionedSequence:4754224] KDM6A [nucleoplasm] [Homo sapiens]
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