KDM6A
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesKDM6A, KABUK2, UTX, bA386N14.2, lysine demethylase 6A
External IDsOMIM: 300128 MGI: 1095419 HomoloGene: 7586 GeneCards: KDM6A
Orthologs
SpeciesHumanMouse
Entrez

7403

22289

Ensembl

ENSG00000147050

ENSMUSG00000037369

UniProt

O15550

O70546

RefSeq (mRNA)

NM_009483
NM_001310444

RefSeq (protein)
Location (UCSC)Chr X: 44.87 – 45.11 MbChr X: 18.03 – 18.15 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/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

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000147050 - Ensembl, May 2017
  2. 1 2 3 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


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