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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; OMA:KDM6A - orthologs
Gene location (Human) Chr. X chromosome (human) Band Xp11.3 Start 44,873,188 bp End 45,112,779 bp
Gene location (Mouse) Chr. X chromosome (mouse) Band X A1.2- A1.3|X 13.45 cM Start 18,028,814 bp End 18,146,175 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in secondary oocyte bone marrow cells left ovary monocyte skin of abdomen germinal epithelium ectocervix vagina epithelium of colon skin of leg Top expressed in zygote secondary oocyte genital tubercle primary oocyte internal carotid artery tail of embryo lacrimal gland Rostral migratory stream maxillary prominence external carotid artery More reference expression data BioGPS More reference expression data
Gene ontology Molecular function dioxygenase activity metal ion binding RNA polymerase II cis-regulatory region sequence-specific DNA binding identical protein binding oxidoreductase activity chromatin DNA binding histone H3-tri/di-methyl-lysine-27 demethylase activity histone demethylase activity chromatin binding sequence-specific DNA binding 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 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 NP_001390300 NP_001390301 NP_001390302 NP_001390303 NP_001390304 NP_001390305 NP_001390306 NP_001390307 NP_001390308 NP_001390309 NP_001390310 Location (UCSC) Chr X: 44.87 – 45.11 Mb Chr X: 18.03 – 18.15 Mb PubMed search
Wikidata
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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. 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.

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. Bibcode:1997Sci...278..675L. 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. Bibcode:2007Sci...318..447L. doi:10.1126/science.1149042. PMID 17761849. S2CID 23883131.

Further reading

• Lahn BT, Page DC (1997). "Functional coherence of the human Y chromosome". Science. 278 (5338): 675–80. Bibcode:1997Sci...278..675L. 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. Bibcode:2002PNAS...9916899M. 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. Bibcode:2004PNAS..10112130B. 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. Bibcode:2007Natur.449..731A. doi:10.1038/nature06145. PMID 17713478. S2CID 4413812.
• Lee MG, Villa R, Trojer P, et al. (2007). "Demethylation of H3K27 regulates polycomb recruitment and H2A ubiquitination". Science. 318 (5849): 447–50. Bibcode:2007Sci...318..447L. doi:10.1126/science.1149042. PMID 17761849. S2CID 23883131.
• Lan F, Bayliss PE, Rinn JL, et al. (2007). "A histone H3 lysine 27 demethylase regulates animal posterior development". Nature. 449 (7163): 689–94. Bibcode:2007Natur.449..689L. doi:10.1038/nature06192. PMID 17851529. S2CID 612144.
• 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. Bibcode:2007PNAS..10418439H. doi:10.1073/pnas.0707292104. PMC 2141795. PMID 18003914.

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