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; OMA:KDM6A - orthologs
Gene location (Human) Chr. X chromosome (human)[1] Band Xp11.3 Start 44,873,188 bp[1] End 45,112,779 bp[1]
Gene location (Mouse) Chr. X chromosome (mouse)[2] Band X A1.2- A1.3|X 13.45 cM Start 18,028,814 bp[2] End 18,146,175 bp[2]
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 [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

The Y-chromosome version of this gene is called UTY.

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]