UTX (gene)

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.

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] Band Xp11.3 Start 44,873,177 bp[1] End 45,112,602 bp[1]
Gene location (Mouse) Chr. X chromosome (mouse)[2] Band X A1.2-A1.3|X 13.45 cM Start 18,162,575 bp[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 • cardiovascular system development • oxidation-reduction process • chromatin remodeling • chromatin organization Sources:Amigo / QuickGO
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_001278344 NP_001278345 NP_001278346 NP_001278347 NP_001278350 NP_066963	NP_001297373 NP_033509
Location (UCSC)	Chr X: 44.87 – 45.11 Mb	Chr X: 18.16 – 18.28 Mb
PubMed search	[3]	[4]
Wikidata
View/Edit Human View/Edit Mouse

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

1. GRCh38: Ensembl release 89: ENSG00000147050 - Ensembl, May 2017
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.
5. "Entrez Gene: KDM6A lysine demethylase 6A".
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.
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.
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.

Further reading

• 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.