UTX (gene)

KDM6A

Available structures

Ortholog search: PDBe RCSB

List of PDB id codes
3AVR, 3AVS

Identifiers

Aliases

KDM6A, KABUK2, UTX, bA386N14.2, lysine demethylase 6A

External IDs

MGI: 1095419 HomoloGene: 7586 GeneCards: KDM6A

Gene ontology
Molecular function	• dioxygenase activity • metal ion binding • RNA polymerase II core promoter proximal region sequence-specific DNA binding • identical protein binding • oxidoreductase activity • chromatin DNA binding • histone demethylase activity (H3-K27 specific) • histone demethylase activity
Cellular component	• nucleoplasm • MLL3/4 complex • histone methyltransferase complex • 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 • cardiovascular system development • oxidation-reduction process • covalent chromatin modification
Sources:Amigo / QuickGO

RNA expression pattern

More reference expression data

Orthologs

Species

Human

Mouse

Entrez


7403


22289

Ensembl


ENSG00000147050


ENSMUSG00000037369

UniProt


O15550


O70546

RefSeq (mRNA)

NM_001291415 NM_001291416 NM_001291417 NM_001291418 NM_001291421
NM_021140


NM_009483 NM_001310444

RefSeq (protein)


NP_066963.2


NP_001297373.1 NP_033509.1

Location (UCSC)

Chr X: 44.87 – 45.11 Mb

Chr X: 18.16 – 18.28 Mb

PubMed search

^[1]

^[2]

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.^[3]^[4]^[5]

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.^[6]

References

↑ "Human PubMed Reference:".
↑ "Mouse PubMed Reference:".
↑ "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.

Oxidoreductases: dioxygenases, including steroid hydroxylases (EC 1.14)

1.14.11: 2-oxoglutarate	Prolyl hydroxylase 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 Lanosterol 14 alpha-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

Enzymes

Activity	Active site Binding site Catalytic triad Oxyanion hole Enzyme promiscuity Catalytically perfect enzyme Coenzyme Cofactor Enzyme catalysis Enzyme kinetics Lineweaver–Burk plot Michaelis–Menten kinetics

Regulation	Allosteric regulation Cooperativity Enzyme inhibitor

Classification	EC number Enzyme superfamily Enzyme family List of enzymes

Types	EC1 Oxidoreductases (list) EC2 Transferases (list) EC3 Hydrolases (list) EC4 Lyases (list) EC5 Isomerases (list) EC6 Ligases (list)

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UTX (gene)

Function

References

Further reading