KAT6B

KAT6B
Identifiers
Aliases	KAT6B, GTPTS, MORF, MOZ2, MYST4, ZC2HC6B, qkf, querkopf, lysine acetyltransferase 6B
External IDs	OMIM: 605880; MGI: 1858746; GeneCards: KAT6B
Enzyme activity
Gene location (Human)
Chr.	Chromosome 10 (human)
End	75,032,624 bp
Gene location (Mouse)
Chr.	Chromosome 14 (mouse)
End	21,722,546 bp
RNA expression pattern
	Top expressed in
	ventricular zone; ; sural nerve; ; bone marrow cell; ; corpus callosum; ; ganglionic eminence; ; testicle; ; epithelium of colon; ; skeletal muscle tissue; ; stromal cell of endometrium; ; tonsil;
	Top expressed in
	zygote; ; ventricular zone; ; genital tubercle; ; tail of embryo; ; blastocyst; ; neural layer of retina; ; morula; ; superior frontal gyrus; ; dentate gyrus of hippocampal formation granule cell; ; spermatocyte;
	More reference expression data
	; ; ; ;
	More reference expression data
Gene ontology
Molecular function	transferase 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 binding;
Cellular component	nucleoplasm; nucleosome; MOZ/MORF histone acetyltransferase complex; nucleus; histone acetyltransferase complex;
Biological process	nucleosome 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 acetylation;
	Sources:Amigo / QuickGO
Orthologs
Databases	NCBI: entry; OMA: entry
	23522
	54169
	ENSG00000156650; ENSG00000281813
	ENSMUSG00000021767
	Q8WYB5
	Q8BRB7
	NM_001256468; NM_001256469; NM_012330
	NM_001205241; NM_017479
	NP_001243397; NP_001243398; NP_036462
	NP_001192170; NP_059507
	Wikidata
View/Edit Human	View/Edit Mouse

K(lysine) acetyltransferase 6B (KAT6B) is an enzyme that in humans is encoded by the KAT6B gene.

Interactions

KAT6B has been shown to interact with RUNX2.

Clinical significance

It has been demonstrated that de novo mutations in the gene KAT6B causes Young–Simpson syndrome and genitopatellar syndrome.

References

1 2 3 ENSG00000281813 GRCh38: Ensembl release 89: ENSG00000156650, ENSG00000281813 – Ensembl, May 2017
1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000021767 – Ensembl, May 2017
↑ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ "Mouse 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, et al. (September 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 Research. 4 (2): 141–150. doi:10.1093/dnares/4.2.141. PMID 9205841.
↑ Champagne N, Bertos NR, Pelletier N, Wang AH, Vezmar M, Yang Y, et al. (November 1999). "Identification of a human histone acetyltransferase related to monocytic leukemia zinc finger protein". The Journal of Biological Chemistry. 274 (40): 28528–28536. 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 (April 2002). "MOZ and MORF histone acetyltransferases interact with the Runt-domain transcription factor Runx2". Oncogene. 21 (17): 2729–2740. doi:10.1038/sj.onc.1205367. PMID 11965546. S2CID 19597517.
↑ Campeau PM, Kim JC, Lu JT, Schwartzentruber JA, Abdul-Rahman OA, Schlaubitz S, et al. (January 18, 2012). "Mutations in KAT6B, Encoding a Histone Acetyltransferase, Cause Genitopatellar Syndrome". American Journal of Human Genetics. 90 (2): 282–289. 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, et al. (November 2011). "Whole-Exome-Sequencing Identifies Mutations in Histone Acetyltransferase Gene KAT6B in Individuals with the Say-Barber-Biesecker Variant of Ohdo Syndrome". American Journal of Human Genetics. 89 (5): 675–681. doi:10.1016/j.ajhg.2011.10.008. PMC 3213399. PMID 22077973.
↑ Campeau PM, Lu JT, Dawson BC, Fokkema IF, Robertson SP, Gibbs RA, et al. (June 19, 2012). "The KAT6B-related disorders Genitopatellar syndrome and Ohdo/SBBYS syndrome have distinct clinical features reflecting distinct molecular mechanisms". Human Mutation. 33 (11): 1520–1525. doi:10.1002/humu.22141. PMC 3696352. PMID 22715153.
↑ Mendez R, Delea M, Dain L, Rittler M (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. hdl:11336/118181. PMID 30921092. S2CID 85565150.

External links

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 adding missing information.

[refGRCh38Ensembl-1] 1 2 3 ENSG00000281813 GRCh38: Ensembl release 89: ENSG00000156650, ENSG00000281813 – Ensembl, May 2017

[refGRCm38Ensembl-2] 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000021767 – 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.

[Nagase_1997-5] Nagase T, Ishikawa K, Nakajima D, Ohira M, Seki N, Miyajima N, et al. (September 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 Research. 4 (2): 141–150. doi:10.1093/dnares/4.2.141. PMID 9205841.

[Champagne_1999-6] Champagne N, Bertos NR, Pelletier N, Wang AH, Vezmar M, Yang Y, et al. (November 1999). "Identification of a human histone acetyltransferase related to monocytic leukemia zinc finger protein". The Journal of Biological Chemistry. 274 (40): 28528–28536. doi:10.1074/jbc.274.40.28528. PMID 10497217.

[entrez-7] "Entrez Gene: MYST4 MYST histone acetyltransferase (monocytic leukemia) 4".

[Pelletier_2002-8] Pelletier N, Champagne N, Stifani S, Yang XJ (April 2002). "MOZ and MORF histone acetyltransferases interact with the Runt-domain transcription factor Runx2". Oncogene. 21 (17): 2729–2740. doi:10.1038/sj.onc.1205367. PMID 11965546. S2CID 19597517.

[Campeau_2012-9] Campeau PM, Kim JC, Lu JT, Schwartzentruber JA, Abdul-Rahman OA, Schlaubitz S, et al. (January 18, 2012). "Mutations in KAT6B, Encoding a Histone Acetyltransferase, Cause Genitopatellar Syndrome". American Journal of Human Genetics. 90 (2): 282–289. doi:10.1016/j.ajhg.2011.11.023. PMC 3276659. PMID 22265014.

[10] Clayton-Smith J, O'Sullivan J, Daly S, Bhaskar S, Day R, Anderson B, et al. (November 2011). "Whole-Exome-Sequencing Identifies Mutations in Histone Acetyltransferase Gene KAT6B in Individuals with the Say-Barber-Biesecker Variant of Ohdo Syndrome". American Journal of Human Genetics. 89 (5): 675–681. doi:10.1016/j.ajhg.2011.10.008. PMC 3213399. PMID 22077973.

[pmid.22715153-11] Campeau PM, Lu JT, Dawson BC, Fokkema IF, Robertson SP, Gibbs RA, et al. (June 19, 2012). "The KAT6B-related disorders Genitopatellar syndrome and Ohdo/SBBYS syndrome have distinct clinical features reflecting distinct molecular mechanisms". Human Mutation. 33 (11): 1520–1525. doi:10.1002/humu.22141. PMC 3696352. PMID 22715153.

[12] Mendez R, Delea M, Dain L, Rittler M (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. hdl:11336/118181. PMID 30921092. S2CID 85565150.

KAT6B

Interactions

Clinical significance

References

Further reading

External links