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KAT6B

December 15, 2023

This article is about the human gene also known as MYST4. For the computer game, see Myst IV.

K(lysine) acetyltransferase 6B (KAT6B) is an enzyme that in humans is encoded by the KAT6B gene.[3][4][5]

KAT6B
Identifiers
AliasesKAT6B, GTPTS, MORF, MOZ2, MYST4, ZC2HC6B, qkf, querkopf, lysine acetyltransferase 6B
External IDsOMIM: 605880 HomoloGene: 49310 GeneCards: KAT6B
Orthologs
SpeciesHumanMouse
Entrez

23522

n/a

Ensembl

ENSG00000156650
ENSG00000281813

n/a

UniProt

Q8WYB5

n/a

RefSeq (mRNA)

NM_001256468
NM_001256469
NM_012330

n/a

RefSeq (protein)

NP_001243397
NP_001243398
NP_036462

n/a

Location (UCSC)Chr 10: 74.82 – 75.03 Mbn/a
PubMed search[2]n/a
Wikidata
View/Edit Human

Interactions edit

KAT6B has been shown to interact with RUNX2.[6]

Clinical significance edit

It has been demonstrated that de novo mutations in the gene KAT6B causes Young–Simpson syndrome and genitopatellar syndrome.[7][8][9][10][11]

References edit

  1. ^ a b c ENSG00000281813 GRCh38: Ensembl release 89: ENSG00000156650, ENSG00000281813 - Ensembl, May 2017
  2. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  3. ^ Nagase T, Ishikawa K, Nakajima D, Ohira M, Seki N, Miyajima N, Tanaka A, Kotani H, Nomura N, Ohara O (Sep 1997). "Prediction of the coding sequences of unidentified human genes. VII. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro". DNA Res. 4 (2): 141–50. doi:10.1093/dnares/4.2.141. PMID 9205841.
  4. ^ Champagne N, Bertos NR, Pelletier N, Wang AH, Vezmar M, Yang Y, Heng HH, Yang XJ (Nov 1999). "Identification of a human histone acetyltransferase related to monocytic leukemia zinc finger protein". J Biol Chem. 274 (40): 28528–36. doi:10.1074/jbc.274.40.28528. PMID 10497217.
  5. ^ "Entrez Gene: MYST4 MYST histone acetyltransferase (monocytic leukemia) 4".
  6. ^ Pelletier N, Champagne N, Stifani S, Yang XJ (Apr 2002). "MOZ and MORF histone acetyltransferases interact with the Runt-domain transcription factor Runx2". Oncogene. 21 (17): 2729–40. doi:10.1038/sj.onc.1205367. PMID 11965546.
  7. ^ Campeau PM, Kim JC, Lu JT, Schwartzentruber JA, Abdul-Rahman OA, Schlaubitz S, Murdock DM, Jiang MM, Lammer EJ, Enns GM, Rhead WJ, Rowland J, Robertson SP, Cormier-Daire V, Bainbridge MN, Yang XJ, Gingras MC, Gibbs RA, Rosenblatt DS, Majewski J, Lee BH (Jan 18, 2012). "Mutations in KAT6B, Encoding a Histone Acetyltransferase, Cause Genitopatellar Syndrome". American Journal of Human Genetics. 90 (2): 282–9. doi:10.1016/j.ajhg.2011.11.023. PMC 3276659. PMID 22265014.
  8. ^ Clayton-Smith J, O'Sullivan J, Daly S, Bhaskar S, Day R, Anderson B, Voss AK, Thomas T, Biesecker LG, Smith P, Fryer A, Chandler KE, Kerr B, Tassabehji M, Lynch SA, Krajewska-Walasek M, McKee S, Smith J, Sweeney E, Mansour S, Mohammed S, Donnai D, Black G (Nov 2011). "Whole-Exome-Sequencing Identifies Mutations in Histone Acetyltransferase Gene KAT6B in Individuals with the Say-Barber-Biesecker Variant of Ohdo Syndrome". Am. J. Hum. Genet. 89 (5): 675–81. doi:10.1016/j.ajhg.2011.10.008. PMC 3213399. PMID 22077973.
  9. ^ Campeau PM, Kim JC, Lu JT, Schwartzentruber JA, Abdul-Rahman OA, Schlaubitz S, Murdock DM, Jiang MM, Lammer EJ, Enns GM, Rhead WJ, Rowland J, Robertson SP, Cormier-Daire V, Bainbridge MN, Yang XJ, Gingras MC, Gibbs RA, Rosenblatt DS, Majewski J, Lee BH (Jan 2012). "Mutations in KAT6B, Encoding a Histone Acetyltransferase, Cause Genitopatellar Syndrome". American Journal of Human Genetics. 90 (2): 282–9. doi:10.1016/j.ajhg.2011.11.023. PMC 3276659. PMID 22265014.
  10. ^ Campeau PM, Lu JT, Dawson BC, Fokkema IF, Robertson SP, Gibbs RA, Lee BH (Jun 19, 2012). "The KAT6B-related disorders Genitopatellar syndrome and Ohdo/SBBYS syndrome have distinct clinical features reflecting distinct molecular mechanisms". Human Mutation. 33 (11): 1520–5. doi:10.1002/humu.22141. PMC 3696352. PMID 22715153.
  11. ^ Mendez, Rodrigo; Delea, Marisol; Dain, Liliana; Rittler, Monica (January 2020). "A novel pathogenic frameshift variant of KAT6B identified by clinical exome sequencing in a newborn with the Say–Barber–Biesecker–Young–Simpson syndrome". Clinical Dysmorphology. 29 (1): 42–45. doi:10.1097/mcd.0000000000000270. PMID 30921092. S2CID 85565150.

Further reading edit

  • Pena AN, Pereira-Smith OM (2007). "The role of the MORF/MRG family of genes in cell growth, differentiation, DNA repair, and thereby aging". Ann. N. Y. Acad. Sci. 1100 (1): 299–305. Bibcode:2007NYASA1100..299P. doi:10.1196/annals.1395.031. PMID 17460191. S2CID 12635963.
  • Nakajima D, Okazaki N, Yamakawa H, Kikuno R, Ohara O, Nagase T (2003). "Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones". DNA Res. 9 (3): 99–106. doi:10.1093/dnares/9.3.99. PMID 12168954.
  • Topper M, Luo Y, Zhadina M, Mohammed K, Smith L, Muesing MA (2007). "Posttranslational Acetylation of the Human Immunodeficiency Virus Type 1 Integrase Carboxyl-Terminal Domain Is Dispensable for Viral Replication". J. Virol. 81 (6): 3012–7. doi:10.1128/JVI.02257-06. PMC 1865993. PMID 17182677.
  • Olsen JV, Blagoev B, Gnad F, Macek B, Kumar C, Mortensen P, Mann M (2006). "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks". Cell. 127 (3): 635–48. doi:10.1016/j.cell.2006.09.026. PMID 17081983. S2CID 7827573.
  • Cereseto A, Manganaro L, Gutierrez MI, Terreni M, Fittipaldi A, Lusic M, Marcello A, Giacca M (2005). "Acetylation of HIV-1 integrase by p300 regulates viral integration". EMBO J. 24 (17): 3070–81. doi:10.1038/sj.emboj.7600770. PMC 1201351. PMID 16096645.
  • Beausoleil SA, Jedrychowski M, Schwartz D, Elias JE, Villén J, Li J, Cohn MA, Cantley LC, Gygi SP (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.
  • Liu C, Lu J, Tan J, Li L, Huang B (2005). "Human interleukin-5 expression is synergistically regulated by histone acetyltransferase CBP/p300 and transcription factors C/EBP, NF-AT and AP-1". Cytokine. 27 (4–5): 93–100. doi:10.1016/j.cyto.2004.02.003. PMID 15271374.
  • Pelletier N, Champagne N, Stifani S, Yang XJ (2002). "MOZ and MORF histone acetyltransferases interact with the Runt-domain transcription factor Runx2". Oncogene. 21 (17): 2729–40. doi:10.1038/sj.onc.1205367. PMID 11965546.
  • Panagopoulos I, Fioretos T, Isaksson M, Samuelsson U, Billström R, Strömbeck B, Mitelman F, Johansson B (2001). "Fusion of the MORF and CBP genes in acute myeloid leukemia with the t(10;16)(q22;p13)". Hum. Mol. Genet. 10 (4): 395–404. doi:10.1093/hmg/10.4.395. PMID 11157802.

External links edit

  • MYST4+protein,+human at the U.S. National Library of Medicine Medical Subject Headings (MeSH)
  • Overview of all the structural information available in the PDB for UniProt: Q8WYB5 (Histone acetyltransferase KAT6B) at the PDBe-KB.


This article incorporates text from the United States National Library of Medicine, which is in the public domain.


 

This article on a gene on human chromosome 10 is a stub. You can help Wikipedia by expanding it.

December 15, 2023
kat6b, this, article, about, human, gene, also, known, myst4, computer, game, myst, lysine, acetyltransferase, enzyme, that, humans, encoded, gene, identifiersaliases, gtpts, morf, moz2, myst4, zc2hc6b, querkopf, lysine, acetyltransferase, 6bexternal, idsomim,. This article is about the human gene also known as MYST4 For the computer game see Myst IV K lysine acetyltransferase 6B KAT6B is an enzyme that in humans is encoded by the KAT6B gene 3 4 5 KAT6BIdentifiersAliasesKAT6B GTPTS MORF MOZ2 MYST4 ZC2HC6B qkf querkopf lysine acetyltransferase 6BExternal IDsOMIM 605880 HomoloGene 49310 GeneCards KAT6BGene location Human Chr Chromosome 10 human 1 Band10q22 2Start74 824 927 bp 1 End75 032 624 bp 1 RNA expression patternBgeeHumanMouse ortholog Top expressed insural nervebone marrow cellscorpus callosumganglionic eminenceskeletal muscle tissuestromal cell of endometriumthymusAchilles tendonurinary bladderovaryn aMore reference expression dataBioGPSMore reference expression dataGene ontologyMolecular functiontransferase activity DNA binding transcription factor binding metal ion binding histone acetyltransferase activity protein binding acetyltransferase activity acyltransferase activity protein containing complex binding H4 histone acetyltransferase activity histone bindingCellular componentnucleoplasm nucleosome MOZ MORF histone acetyltransferase complex nucleus histone acetyltransferase complexBiological processnucleosome assembly regulation of transcription DNA templated transcription DNA templated positive regulation of transcription DNA templated histone acetylation histone H3 acetylation negative regulation of transcription DNA templated positive regulation of transcription by RNA polymerase II cellular response to leukemia inhibitory factor chromatin organization histone H4 acetylationSources Amigo QuickGOOrthologsSpeciesHumanMouseEntrez23522n aEnsemblENSG00000156650ENSG00000281813n aUniProtQ8WYB5n aRefSeq mRNA NM 001256468NM 001256469NM 012330n aRefSeq protein NP 001243397NP 001243398NP 036462n aLocation UCSC Chr 10 74 82 75 03 Mbn aPubMed search 2 n aWikidataView Edit Human Contents 1 Interactions 2 Clinical significance 3 References 4 Further reading 5 External linksInteractions editKAT6B has been shown to interact with RUNX2 6 Clinical significance editIt has been demonstrated that de novo mutations in the gene KAT6B causes Young Simpson syndrome and genitopatellar syndrome 7 8 9 10 11 References edit a b c ENSG00000281813 GRCh38 Ensembl release 89 ENSG00000156650 ENSG00000281813 Ensembl May 2017 Human PubMed Reference National Center for Biotechnology Information U S National Library of Medicine Nagase T Ishikawa K Nakajima D Ohira M Seki N Miyajima N Tanaka A Kotani H Nomura N Ohara O Sep 1997 Prediction of the coding sequences of unidentified human genes VII The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro DNA Res 4 2 141 50 doi 10 1093 dnares 4 2 141 PMID 9205841 Champagne N Bertos NR Pelletier N Wang AH Vezmar M Yang Y Heng HH Yang XJ Nov 1999 Identification of a human histone acetyltransferase related to monocytic leukemia zinc finger protein J Biol Chem 274 40 28528 36 doi 10 1074 jbc 274 40 28528 PMID 10497217 Entrez Gene MYST4 MYST histone acetyltransferase monocytic leukemia 4 Pelletier N Champagne N Stifani S Yang XJ Apr 2002 MOZ and MORF histone acetyltransferases interact with the Runt domain transcription factor Runx2 Oncogene 21 17 2729 40 doi 10 1038 sj onc 1205367 PMID 11965546 Campeau PM Kim JC Lu JT Schwartzentruber JA Abdul Rahman OA Schlaubitz S Murdock DM Jiang MM Lammer EJ Enns GM Rhead WJ Rowland J Robertson SP Cormier Daire V Bainbridge MN Yang XJ Gingras MC Gibbs RA Rosenblatt DS Majewski J Lee BH Jan 18 2012 Mutations in KAT6B Encoding a Histone Acetyltransferase Cause Genitopatellar Syndrome American Journal of Human Genetics 90 2 282 9 doi 10 1016 j ajhg 2011 11 023 PMC 3276659 PMID 22265014 Clayton Smith J O Sullivan J Daly S Bhaskar S Day R Anderson B Voss AK Thomas T Biesecker LG Smith P Fryer A Chandler KE Kerr B Tassabehji M Lynch SA Krajewska Walasek M McKee S Smith J Sweeney E Mansour S Mohammed S Donnai D Black G Nov 2011 Whole Exome Sequencing Identifies Mutations in Histone Acetyltransferase Gene KAT6B in Individuals with the Say Barber Biesecker Variant of Ohdo Syndrome Am J Hum Genet 89 5 675 81 doi 10 1016 j ajhg 2011 10 008 PMC 3213399 PMID 22077973 Campeau PM Kim JC Lu JT Schwartzentruber JA Abdul Rahman OA Schlaubitz S Murdock DM Jiang MM Lammer EJ Enns GM Rhead WJ Rowland J Robertson SP Cormier Daire V Bainbridge MN Yang XJ Gingras MC Gibbs RA Rosenblatt DS Majewski J Lee BH Jan 2012 Mutations in KAT6B Encoding a Histone Acetyltransferase Cause Genitopatellar Syndrome American Journal of Human Genetics 90 2 282 9 doi 10 1016 j ajhg 2011 11 023 PMC 3276659 PMID 22265014 Campeau PM Lu JT Dawson BC Fokkema IF Robertson SP Gibbs RA Lee BH Jun 19 2012 The KAT6B related disorders Genitopatellar syndrome and Ohdo SBBYS syndrome have distinct clinical features reflecting distinct molecular mechanisms Human Mutation 33 11 1520 5 doi 10 1002 humu 22141 PMC 3696352 PMID 22715153 Mendez Rodrigo Delea Marisol Dain Liliana Rittler Monica January 2020 A novel pathogenic frameshift variant of KAT6B identified by clinical exome sequencing in a newborn with the Say Barber Biesecker Young Simpson syndrome Clinical Dysmorphology 29 1 42 45 doi 10 1097 mcd 0000000000000270 PMID 30921092 S2CID 85565150 Further reading editPena AN Pereira Smith OM 2007 The role of the MORF MRG family of genes in cell growth differentiation DNA repair and thereby aging Ann N Y Acad Sci 1100 1 299 305 Bibcode 2007NYASA1100 299P doi 10 1196 annals 1395 031 PMID 17460191 S2CID 12635963 Nakajima D Okazaki N Yamakawa H Kikuno R Ohara O Nagase T 2003 Construction of expression ready cDNA clones for KIAA genes manual curation of 330 KIAA cDNA clones DNA Res 9 3 99 106 doi 10 1093 dnares 9 3 99 PMID 12168954 Topper M Luo Y Zhadina M Mohammed K Smith L Muesing MA 2007 Posttranslational Acetylation of the Human Immunodeficiency Virus Type 1 Integrase Carboxyl Terminal Domain Is Dispensable for Viral Replication J Virol 81 6 3012 7 doi 10 1128 JVI 02257 06 PMC 1865993 PMID 17182677 Olsen JV Blagoev B Gnad F Macek B Kumar C Mortensen P Mann M 2006 Global in vivo and site specific phosphorylation dynamics in signaling networks Cell 127 3 635 48 doi 10 1016 j cell 2006 09 026 PMID 17081983 S2CID 7827573 Cereseto A Manganaro L Gutierrez MI Terreni M Fittipaldi A Lusic M Marcello A Giacca M 2005 Acetylation of HIV 1 integrase by p300 regulates viral integration EMBO J 24 17 3070 81 doi 10 1038 sj emboj 7600770 PMC 1201351 PMID 16096645 Beausoleil SA Jedrychowski M Schwartz D Elias JE Villen J Li J Cohn MA Cantley LC Gygi SP 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 Liu C Lu J Tan J Li L Huang B 2005 Human interleukin 5 expression is synergistically regulated by histone acetyltransferase CBP p300 and transcription factors C EBP NF AT and AP 1 Cytokine 27 4 5 93 100 doi 10 1016 j cyto 2004 02 003 PMID 15271374 Pelletier N Champagne N Stifani S Yang XJ 2002 MOZ and MORF histone acetyltransferases interact with the Runt domain transcription factor Runx2 Oncogene 21 17 2729 40 doi 10 1038 sj onc 1205367 PMID 11965546 Panagopoulos I Fioretos T Isaksson M Samuelsson U Billstrom R Strombeck B Mitelman F Johansson B 2001 Fusion of the MORF and CBP genes in acute myeloid leukemia with the t 10 16 q22 p13 Hum Mol Genet 10 4 395 404 doi 10 1093 hmg 10 4 395 PMID 11157802 External links editMYST4 protein human at the U S National Library of Medicine Medical Subject Headings MeSH Overview of all the structural information available in the PDB for UniProt Q8WYB5 Histone acetyltransferase KAT6B at the PDBe KB This article incorporates text from the United States National Library of Medicine which is in the public domain nbsp This article on a gene on human chromosome 10 is a stub You can help Wikipedia by expanding it vte Retrieved from https en wikipedia org w index php title KAT6B amp oldid 1170972766, 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