KDM6A
This gene is located on the X chromosome and is the corresponding locus to a Y-linked gene which encodes a tetratricopeptide repeat (TPR) protein. The encoded protein of this gene contains a JmjC-domain and catalyzes the demethylation of tri/dimethylated histone H3. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Apr 2014]
Full Name
Lysine Demethylase 6A
Function
Histone demethylase that specifically demethylates 'Lys-27' of histone H3, thereby playing a central role in histone code (PubMed:17851529, PubMed:17713478, PubMed:17761849).
Demethylates trimethylated and dimethylated but not monomethylated H3 'Lys-27' (PubMed:17851529, PubMed:17713478, PubMed:17761849).
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).
Demethylates trimethylated and dimethylated but not monomethylated H3 'Lys-27' (PubMed:17851529, PubMed:17713478, PubMed:17761849).
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).
Biological Process
Chromatin remodelingISS:UniProtKB
Heart developmentManual Assertion Based On ExperimentIBA:GO_Central
Histone H3-K27 demethylationManual Assertion Based On ExperimentIBA:GO_Central
Histone H3-K4 methylationBy SimilarityISS:UniProtKB
Regulation of gene expressionManual Assertion Based On ExperimentIBA:GO_Central
Heart developmentManual Assertion Based On ExperimentIBA:GO_Central
Histone H3-K27 demethylationManual Assertion Based On ExperimentIBA:GO_Central
Histone H3-K4 methylationBy SimilarityISS:UniProtKB
Regulation of gene expressionManual Assertion Based On ExperimentIBA:GO_Central
Cellular Location
Nucleus
Involvement in disease
Kabuki syndrome 2 (KABUK2):
A congenital mental retardation syndrome with additional features, including postnatal dwarfism, a peculiar facies characterized by long palpebral fissures with eversion of the lateral third of the lower eyelids, a broad and depressed nasal tip, large prominent earlobes, a cleft or high-arched palate, scoliosis, short fifth finger, persistence of fingerpads, radiographic abnormalities of the vertebrae, hands, and hip joints, and recurrent otitis media in infancy.
A congenital mental retardation syndrome with additional features, including postnatal dwarfism, a peculiar facies characterized by long palpebral fissures with eversion of the lateral third of the lower eyelids, a broad and depressed nasal tip, large prominent earlobes, a cleft or high-arched palate, scoliosis, short fifth finger, persistence of fingerpads, radiographic abnormalities of the vertebrae, hands, and hip joints, and recurrent otitis media in infancy.
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Anti-KDM6A antibodies
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Target: KDM6A
Host: Mouse
Antibody Isotype: IgG1
Specificity: Mouse, Human
Clone: 3A2
Application*: WB, IP, E, F
Target: KDM6A
Host: Mouse
Antibody Isotype: IgG
Specificity: Human, Mouse, Rat
Clone: CBXU-016
Application*: WB, IP, IF, E
Target: KDM6A
Host: Mouse
Antibody Isotype: IgG2a
Specificity: Human, Rat
Clone: 6E2D6
Application*: E, WB
Target: KDM6A
Host: Mouse
Antibody Isotype: IgG2a
Specificity: Human
Clone: 5C2A9
Application*: E, WB, F
Target: KDM6A
Host: Mouse
Antibody Isotype: IgG1
Specificity: Human
Clone: 1612
Application*: WB
Target: KDM6A
Host: Mouse
Antibody Isotype: IgG2a
Specificity: Human
Clone: CBT3356
Application*: F
Target: KDM6A
Host: Mouse
Antibody Isotype: IgG2a
Specificity: Human, Rat
Clone: CBT4129
Application*: WB
Target: KDM6A
Host: Mouse
Antibody Isotype: IgG
Specificity: Human
Clone: EG1783
Application*: ELISA, WB
Target: KDM6A
Host: Rabbit
Antibody Isotype: IgG
Specificity: Human, Mouse, Rat, Monkey
Clone: D3Q1I
Application*: WB, IP, P
Target: KDM6A
Host: Rabbit
Antibody Isotype: IgG
Specificity: Human, Mouse, Rat, Monkey
Clone: CBXU-146
Application*: WB, IP, P
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For Research Use Only. Not For Clinical Use.
(P): Predicted
* Abbreviations
- AActivation
- AGAgonist
- APApoptosis
- BBlocking
- BABioassay
- BIBioimaging
- CImmunohistochemistry-Frozen Sections
- CIChromatin Immunoprecipitation
- CTCytotoxicity
- CSCostimulation
- DDepletion
- DBDot Blot
- EELISA
- ECELISA(Cap)
- EDELISA(Det)
- ESELISpot
- EMElectron Microscopy
- FFlow Cytometry
- FNFunction Assay
- GSGel Supershift
- IInhibition
- IAEnzyme Immunoassay
- ICImmunocytochemistry
- IDImmunodiffusion
- IEImmunoelectrophoresis
- IFImmunofluorescence
- IGImmunochromatography
- IHImmunohistochemistry
- IMImmunomicroscopy
- IOImmunoassay
- IPImmunoprecipitation
- ISIntracellular Staining for Flow Cytometry
- LALuminex Assay
- LFLateral Flow Immunoassay
- MMicroarray
- MCMass Cytometry/CyTOF
- MDMeDIP
- MSElectrophoretic Mobility Shift Assay
- NNeutralization
- PImmunohistologyp-Paraffin Sections
- PAPeptide Array
- PEPeptide ELISA
- PLProximity Ligation Assay
- RRadioimmunoassay
- SStimulation
- SESandwich ELISA
- SHIn situ hybridization
- TCTissue Culture
- WBWestern Blot
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