KAT8 regulatory NSL complex subunit 1

KANSL1
Identifiers
Aliases	KANSL1, KAT8 regulatory NSL complex subunit 1, NSL1, KIAA1267, MSL1v1, CENP-36, hMSL1v1, KDVS
External IDs	OMIM: 612452; MGI: 1923969; GeneCards: KANSL1
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 4CY1, 4CY2
Gene location (Human) Chr. Chromosome 17 (human) Band 17q21.31 Start 46,029,916 bp End 46,225,389 bp
Gene location (Mouse) Chr. Chromosome 11 (mouse) Band 11|11 E1 Start 104,333,229 bp End 104,468,861 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in bone marrow cell epithelium of colon thymus ganglionic eminence Achilles tendon sural nerve ventricular zone testicle cerebellar hemisphere pylorus Top expressed in tail of embryo genital tubercle zygote secondary oocyte visual cortex ventricular zone superior frontal gyrus primary visual cortex granulocyte neural layer of retina More reference expression data BioGPS n/a
Gene ontology Molecular function histone acetyltransferase activity (H4-K5 specific) histone acetyltransferase activity (H4-K16 specific) protein binding histone acetyltransferase activity (H4-K8 specific) histone acetyltransferase binding Cellular component histone acetyltransferase complex MLL1 complex chromosome, centromeric region nucleus kinetochore chromosome nucleoplasm NSL complex Biological process histone H4-K16 acetylation histone H4-K8 acetylation histone H4-K5 acetylation chromatin organization Sources:Amigo / QuickGO
Orthologs Databases NCBI: entry; OMA: entry Species Human Mouse Entrez 284058 76719 Ensembl ENSG00000278458 ENSG00000275867 ENSG00000120071 ENSMUSG00000018412 UniProt Q7Z3B3 Q80TG1 RefSeq (mRNA) NM_001193465 NM_001193466 NM_015443 NM_001379198 NM_001081045 NM_001359634 NM_001372458 NM_001372459 NM_001372460 RefSeq (protein) NP_001180394 NP_001180395 NP_056258 NP_001366127 NP_001074514 NP_001346563 NP_001359387 NP_001359388 NP_001359389 Location (UCSC) Chr 17: 46.03 – 46.23 Mb Chr 11: 104.33 – 104.47 Mb PubMed search
Wikidata
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KAT8 regulatory NSL complex subunit 1 is a protein that in humans is encoded by the KANSL1 gene (previously KIAA1267). This protein is involved in multiple kinds of epigenetic modification, and in particular it is part of two histone acetyltransferase complexes: the NSL complex, and the MLL1 complex.

The NSL Complex

The NSL Complex (or Non-Specific Lethal complex), is a multi-protein complex involved in histone acetylation. In addition to the protein KANSL1, the NSL complex includes KAT8, KANSL2, KANSL3, MCRS1, PHF20, OGT, WDR5 and HCFC1. The NSL complex performs histone H4 acetylation, and specifically H4K5ac and H4K8ac, functioning to promote transcription initiation. KANSL1 interacts directly with KAT8 through the HAT domain, and functions as a non-catalytic subunit for the complex.

Medical Significance

Pathogenic mutations in KANSL1 are associated with Koolen-de Vries syndrome, a developmental disorder associated with intellectual disability, hypotonia, congenital skeletal/organ malformations, and sometimes epilepsy.

See also

• KAT8
• KAT8 regulatory NSL complex subunit 2
• KAT8 regulatory NSL complex subunit 3

Further reading

• Hartley JL, Temple GF, Brasch MA (2000). "DNA cloning using in vitro site-specific recombination". Genome Res. 10 (11): 1788–95. doi:10.1101/gr.143000. PMC 310948. PMID 11076863.
• Wiemann S, Weil B, Wellenreuther R, Gassenhuber J, Glassl S, Ansorge W, Böcher M, Blöcker H, Bauersachs S, Blum H, Lauber J, Düsterhöft A, Beyer A, Köhrer K, Strack N, Mewes HW, Ottenwälder B, Obermaier B, Tampe J, Heubner D, Wambutt R, Korn B, Klein M, Poustka A (2001). "Toward a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs". Genome Res. 11 (3): 422–35. doi:10.1101/gr.GR1547R. PMC 311072. PMID 11230166.
• Simpson JC, Wellenreuther R, Poustka A, Pepperkok R, Wiemann S (2000). "Systematic subcellular localization of novel proteins identified by large-scale cDNA sequencing". EMBO Rep. 1 (3): 287–92. doi:10.1093/embo-reports/kvd058. PMC 1083732. PMID 11256614.
• Poorkaj P, Kas A, D'Souza I, Zhou Y, Pham Q, Stone M, Olson MV, Schellenberg GD (2001). "A genomic sequence analysis of the mouse and human microtubule-associated protein tau". Mamm. Genome. 12 (9): 700–12. doi:10.1007/s00335-001-2044-8. PMID 11641718. S2CID 20532404.
• 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.
• Wiemann S, Arlt D, Huber W, Wellenreuther R, Schleeger S, Mehrle A, Bechtel S, Sauermann M, Korf U, Pepperkok R, Sültmann H, Poustka A (2004). "From ORFeome to biology: a functional genomics pipeline". Genome Res. 14 (10B): 2136–44. doi:10.1101/gr.2576704. PMC 528930. PMID 15489336.
• Rual JF, Venkatesan K, Hao T, Hirozane-Kishikawa T, Dricot A, Li N, Berriz GF, Gibbons FD, Dreze M, Ayivi-Guedehoussou N, Klitgord N, Simon C, Boxem M, Milstein S, Rosenberg J, Goldberg DS, Zhang LV, Wong SL, Franklin G, Li S, Albala JS, Lim J, Fraughton C, Llamosas E, Cevik S, Bex C, Lamesch P, Sikorski RS, Vandenhaute J, Zoghbi HY, Smolyar A, Bosak S, Sequerra R, Doucette-Stamm L, Cusick ME, Hill DE, Roth FP, Vidal M (2005). "Towards a proteome-scale map of the human protein-protein interaction network". Nature. 437 (7062): 1173–8. Bibcode:2005Natur.437.1173R. doi:10.1038/nature04209. PMID 16189514. S2CID 4427026.
• Mehrle A, Rosenfelder H, Schupp I, del Val C, Arlt D, Hahne F, Bechtel S, Simpson J, Hofmann O, Hide W, Glatting KH, Huber W, Pepperkok R, Poustka A, Wiemann S (2006). "The LIFEdb database in 2006". Nucleic Acids Res. 34 (Database issue): D415-8. doi:10.1093/nar/gkj139. PMC 1347501. PMID 16381901.