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)
End	46,225,389 bp
Gene location (Mouse)
Chr.	Chromosome 11 (mouse)
End	104,468,861 bp
RNA expression pattern
	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
	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
	284058
	76719
	ENSG00000278458; ENSG00000275867; ENSG00000120071
	ENSMUSG00000018412
	Q7Z3B3
	Q80TG1
	NM_001193465; NM_001193466; NM_015443; NM_001379198
	NM_001081045; NM_001359634; NM_001372458; NM_001372459; NM_001372460
	NP_001180394; NP_001180395; NP_056258; NP_001366127
	NP_001074514; NP_001346563; NP_001359387; NP_001359388; NP_001359389
	Wikidata
View/Edit Human	View/Edit Mouse

KAT8 regulatory NSL complex subunit 1 is a protein that in humans is encoded by the KANSL1 gene (previously KIAA1267).^[5]^[6] 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.^[6]

The NSL Complex

The NSL Complex (or Non-Specific Lethal complex), is a multi-protein complex involved in histone acetylation.^[7] In addition to the protein KANSL1, the NSL complex includes KAT8, KANSL2, KANSL3, MCRS1, PHF20, OGT, WDR5 and HCFC1.^[8] The NSL complex performs histone H4 acetylation, and specifically H4K5ac and H4K8ac, functioning to promote transcription initiation.^[8] KANSL1 interacts directly with KAT8 through the HAT domain, and functions as a non-catalytic subunit for the complex.^[8]

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.^[9]^[8]

References

1 2 3 ENSG00000275867, ENSG00000120071 GRCh38: Ensembl release 89: ENSG00000278458, ENSG00000275867, ENSG00000120071 – Ensembl, May 2017
1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000018412 – 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, Kikuno R, Hirosawa M, Nomura N, Ohara O (1999). "Prediction of the coding sequences of unidentified human genes. XV. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro". DNA Res. 6 (5): 337–45. doi:10.1093/dnares/6.5.337. PMID 10574462.
1 2 "Entrez Gene: KIAA1267 KIAA1267".
↑ "NSL complex". geneontology.org. The Gene Ontology consortium. Retrieved 2026-08-10.
1 2 3 4 "Q7Z3B3 · KANL1_HUMAN". uniprot.org. UniProt consortium. Retrieved 2026-08-10.
↑ "Koolen-De Vries Syndrome (KDVS)". malacards.org. LifeMap sciences. Retrieved 2026-08-10.

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.

This article on a gene on human chromosome 17 is a stub. You can help Wikipedia by adding missing information.

[refGRCh38Ensembl-1] 1 2 3 ENSG00000275867, ENSG00000120071 GRCh38: Ensembl release 89: ENSG00000278458, ENSG00000275867, ENSG00000120071 – Ensembl, May 2017

[refGRCm38Ensembl-2] 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000018412 – 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.

[pmid10574462-5] Nagase T, Ishikawa K, Kikuno R, Hirosawa M, Nomura N, Ohara O (1999). "Prediction of the coding sequences of unidentified human genes. XV. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro". DNA Res. 6 (5): 337–45. doi:10.1093/dnares/6.5.337. PMID 10574462.

[entrez-6] 1 2 "Entrez Gene: KIAA1267 KIAA1267".

[7] "NSL complex". geneontology.org. The Gene Ontology consortium. Retrieved 2026-08-10.

[uniprot-8] 1 2 3 4 "Q7Z3B3 · KANL1_HUMAN". uniprot.org. UniProt consortium. Retrieved 2026-08-10.

[9] "Koolen-De Vries Syndrome (KDVS)". malacards.org. LifeMap sciences. Retrieved 2026-08-10.

[1]

[2]

[3]

[4]

[5]

[6]

[7]

[8]

[9]

A page that knows where it met you.

KAT8 regulatory NSL complex subunit 1

The NSL Complex

Medical Significance

See also

References

Further reading