UTX (gene)

KDM6A
Available structures
PDB	Ortholog search: PDBe RCSB
List of PDB id codes
	3AVR, 3AVS
Identifiers
Aliases	KDM6A, KABUK2, UTX, bA386N14.2, lysine demethylase 6A
External IDs	OMIM: 300128 MGI: 1095419 HomoloGene: 7586 GeneCards: KDM6A
Gene location (Human)
Chr.	X chromosome (human)[1]
End	45,112,602 bp[1]
Gene location (Mouse)
Chr.	X chromosome (mouse)[2]
End	18,279,936 bp[2]
RNA expression pattern
	; ; ; ;
	More reference expression data
Gene ontology
Molecular function	• dioxygenase activity; • metal ion binding; • GO:0000980 RNA polymerase II cis-regulatory region sequence-specific DNA binding; • identical protein binding; • oxidoreductase activity; • chromatin DNA binding; • histone demethylase activity (H3-K27 specific); • histone demethylase activity; • chromatin binding; • sequence-specific DNA binding;
Cellular component	• nucleoplasm; • MLL3/4 complex; • histone methyltransferase complex; • cell nucleus;
Biological process	• respiratory system process; • histone H3-K27 demethylation; • multicellular organism growth; • embryonic organ development; • somite rostral/caudal axis specification; • heart morphogenesis; • in utero embryonic development; • heart development; • histone H3-K4 methylation; • neural tube closure; • positive regulation of gene expression; • notochord morphogenesis; • neural tube development; • mesodermal cell differentiation; • canonical Wnt signaling pathway; • regulation of gene expression; • oxidation-reduction process; • chromatin remodeling; • chromatin organization;
	Sources:Amigo / QuickGO
Orthologs
	7403
	22289
	ENSG00000147050
	ENSMUSG00000037369
	O15550
	O70546
NM_001291415; NM_001291416; NM_001291417; NM_001291418; NM_001291421;
	NM_021140
	NM_009483; NM_001310444
NP_001278344; NP_001278345; NP_001278346; NP_001278347; NP_001278350;
	NP_066963
	NP_001297373; NP_033509
	Wikidata
View/Edit Human	View/Edit Mouse

Lysine-specific demethylase 6A also known as Ubiquitously transcribed tetratricopeptide repeat, X chromosome (UTX), is a protein which in humans is encoded by the KDM6A gene.[5][6][7] It belongs to the 2-oxoglutarate (2OG)-dependent dioxygenase superfamily.

Function

UTX has been linked with demethylation of lysine residues on histone, in particular H3K27, resulting in a gene de-repression, a potential means of regulating cellular metabolism.[8]

References

GRCh38: Ensembl release 89: ENSG00000147050 - Ensembl, May 2017
GRCm38: Ensembl release 89: ENSMUSG00000037369 - Ensembl, May 2017
"Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
"Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
"Entrez Gene: KDM6A lysine demethylase 6A".
Lahn BT, Page DC (October 1997). "Functional coherence of the human Y chromosome". Science. 278 (5338): 675–80. doi:10.1126/science.278.5338.675. PMID 9381176.
Greenfield A, Carrel L, Pennisi D, Philippe C, Quaderi N, Siggers P, Steiner K, Tam PP, Monaco AP, Willard HF, Koopman P (April 1998). "The UTX gene escapes X inactivation in mice and humans". Hum. Mol. Genet. 7 (4): 737–42. doi:10.1093/hmg/7.4.737. PMID 9499428.
Lee MG, Villa R, Trojer P, Norman J, Yan KP, Reinberg D, Di Croce L, Shiekhattar R (October 2007). "Demethylation of H3K27 regulates polycomb recruitment and H2A ubiquitination". Science. 318 (5849): 447–50. doi:10.1126/science.1149042. PMID 17761849.

Lahn BT, Page DC (1997). "Functional coherence of the human Y chromosome". Science. 278 (5338): 675–80. doi:10.1126/science.278.5338.675. PMID 9381176.
Greenfield A, Carrel L, Pennisi D, et al. (1998). "The UTX gene escapes X inactivation in mice and humans". Hum. Mol. Genet. 7 (4): 737–42. doi:10.1093/hmg/7.4.737. PMID 9499428.
Grbavec D, Lo R, Liu Y, et al. (1999). "Groucho/transducin-like enhancer of split (TLE) family members interact with the yeast transcriptional co-repressor SSN6 and mammalian SSN6-related proteins: implications for evolutionary conservation of transcription repression mechanisms". Biochem. J. 337 ( Pt 1) (Pt 1): 13–7. doi:10.1042/0264-6021:3370013. PMC 1219929. PMID 9854018.
Foresta C, Ferlin A, Moro E (2000). "Deletion and expression analysis of AZFa genes on the human Y chromosome revealed a major role for DBY in male infertility". Hum. Mol. Genet. 9 (8): 1161–9. doi:10.1093/hmg/9.8.1161. PMID 10767340.
Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
Agate RJ, Choe M, Arnold AP (2004). "Sex differences in structure and expression of the sex chromosome genes CHD1Z and CHD1W in zebra finches". Mol. Biol. Evol. 21 (2): 384–96. doi:10.1093/molbev/msh027. PMID 14660691.
Colland F, Jacq X, Trouplin V, et al. (2004). "Functional Proteomics Mapping of a Human Signaling Pathway". Genome Res. 14 (7): 1324–32. doi:10.1101/gr.2334104. PMC 442148. PMID 15231748.
Beausoleil SA, Jedrychowski M, Schwartz D, et al. (2004). "Large-scale characterization of HeLa cell nuclear phosphoproteins". Proc. Natl. Acad. Sci. U.S.A. 101 (33): 12130–5. doi:10.1073/pnas.0404720101. PMC 514446. PMID 15302935.
Ballif BA, Villén J, Beausoleil SA, et al. (2005). "Phosphoproteomic analysis of the developing mouse brain". Mol. Cell. Proteomics. 3 (11): 1093–101. doi:10.1074/mcp.M400085-MCP200. PMID 15345747.
Gerrard DT, Filatov DA (2005). "Positive and negative selection on mammalian Y chromosomes". Mol. Biol. Evol. 22 (6): 1423–32. doi:10.1093/molbev/msi128. PMID 15758204.
Cho YW, Hong T, Hong S, et al. (2007). "PTIP Associates with MLL3- and MLL4-containing Histone H3 Lysine 4 Methyltransferase Complex". J. Biol. Chem. 282 (28): 20395–406. doi:10.1074/jbc.M701574200. PMC 2729684. PMID 17500065.
Agger K, Cloos PA, Christensen J, et al. (2007). "UTX and JMJD3 are histone H3K27 demethylases involved in HOX gene regulation and development". Nature. 449 (7163): 731–4. doi:10.1038/nature06145. PMID 17713478.
Lee MG, Villa R, Trojer P, et al. (2007). "Demethylation of H3K27 regulates polycomb recruitment and H2A ubiquitination". Science. 318 (5849): 447–50. doi:10.1126/science.1149042. PMID 17761849.
Lan F, Bayliss PE, Rinn JL, et al. (2007). "A histone H3 lysine 27 demethylase regulates animal posterior development". Nature. 449 (7163): 689–94. doi:10.1038/nature06192. PMID 17851529.
Hong S, Cho YW, Yu LR, et al. (2008). "Identification of JmjC domain-containing UTX and JMJD3 as histone H3 lysine 27 demethylases". Proc. Natl. Acad. Sci. U.S.A. 104 (47): 18439–44. doi:10.1073/pnas.0707292104. PMC 2141795. PMID 18003914.

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[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000147050 - Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000037369 - Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[entrez-5] "Entrez Gene: KDM6A lysine demethylase 6A".

[pmid9381176-6] Lahn BT, Page DC (October 1997). "Functional coherence of the human Y chromosome". Science. 278 (5338): 675–80. doi:10.1126/science.278.5338.675. PMID 9381176.

[pmid9499428-7] Greenfield A, Carrel L, Pennisi D, Philippe C, Quaderi N, Siggers P, Steiner K, Tam PP, Monaco AP, Willard HF, Koopman P (April 1998). "The UTX gene escapes X inactivation in mice and humans". Hum. Mol. Genet. 7 (4): 737–42. doi:10.1093/hmg/7.4.737. PMID 9499428.

[pmid17761849-8] Lee MG, Villa R, Trojer P, Norman J, Yan KP, Reinberg D, Di Croce L, Shiekhattar R (October 2007). "Demethylation of H3K27 regulates polycomb recruitment and H2A ubiquitination". Science. 318 (5849): 447–50. doi:10.1126/science.1149042. PMID 17761849.

Oxidoreductases: dioxygenases, including steroid hydroxylases (EC 1.14)
1.14.11: 2-oxoglutarate	Prolyl hydroxylase HIF prolyl-hydroxylase EGLN1 EGLN2 EGLN3 P4HTM Lysyl hydroxylase
1.14.13: NADH or NADPH	Flavin-containing monooxygenase FMO1 FMO2 FMO3 FMO4 FMO5 Nitric oxide synthase NOS1 NOS2 NOS3 Cholesterol 7 alpha-hydroxylase Methane monooxygenase 3A4 14α-demethylase 24-hydroxycholesterol 7α-hydroxylase
1.14.14: reduced flavin or flavoprotein	19A1 2D6 2E1
1.14.15: reduced iron-sulfur protein	11B1 11B2 11A1
1.14.16: reduced pteridine (BH4 dependent)	Phenylalanine hydroxylase Tyrosine hydroxylase Tryptophan hydroxylase
1.14.17: reduced ascorbate	Dopamine beta-hydroxylase
1.14.18-19: other	Tyrosinase Stearoyl-CoA desaturase-1
1.14.99 - miscellaneous	Cyclooxygenase Heme oxygenase (HMOX1) Squalene monooxygenase 17A1 21A2 Ecdysone 20-monooxygenase

Enzymes
Activity	Active site Binding site Catalytic triad Oxyanion hole Enzyme promiscuity Catalytically perfect enzyme Coenzyme Cofactor Enzyme catalysis
Regulation	Allosteric regulation Cooperativity Enzyme inhibitor Enzyme activator
Classification	EC number Enzyme superfamily Enzyme family List of enzymes
Kinetics	Enzyme kinetics Eadie–Hofstee diagram Hanes–Woolf plot Lineweaver–Burk plot Michaelis–Menten kinetics
Types	EC1 Oxidoreductases (list) EC2 Transferases (list) EC3 Hydrolases (list) EC4 Lyases (list) EC5 Isomerases (list) EC6 Ligases (list) EC7 Translocases (list)

UTX (gene)

Function

References

Further reading