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Details on Person UniProt:O15550 KDM6A
| Class:Id | ReferenceGeneProduct:67056 |
|---|---|
| _chainChangeLog | chain:1-1401 added on Fri February 6 2015 |
| _displayName | UniProt:O15550 KDM6A |
| _timestamp | 2025-02-21 18:57:55 |
| chain | chain:1-1401 |
| checksum | 9DD7EA6C61E79229 |
| comment | FUNCTION 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. |
| description | recommendedName: 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 |
| geneName | KDM6A UTX |
| identifier | O15550 |
| isSequenceChanged | FALSE |
| keyword | 3D-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 |
| name | KDM6A |
| referenceDatabase | [ReferenceDatabase:2] UniProt |
| referenceGene | [ReferenceDNASequence:9004189] ENSEMBL:ENSG00000147050 KDM6A [Homo sapiens] |
| secondaryIdentifier | KDM6A_HUMAN Q52LL9 Q5JVQ7 |
| sequenceLength | 1401 |
| species | [Species:48887] Homo sapiens |
| (referenceEntity) | [EntityWithAccessionedSequence:4754224] KDM6A [nucleoplasm] [Homo sapiens] |
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No pathways have been reviewed or authored by UniProt:O15550 KDM6A (67056)
