Reactome | Formation of ChAHP complex

Formation of ChAHP complex

Stable Identifier

R-HSA-9940477

Type

Reaction [binding]

Species

Homo sapiens

Compartment

nucleoplasm

ReviewStatus

3/5

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ChAHP is a CHD4-containing complex that plays a role in large scale chromatin organization. In addition to CHD4, the complex also contains CBX1 or CBX3 (also known as HP1 beta and HP1 gamma, respectively) and the transcription factor ADNP (activity-dependent neuroprotector homeobox protein) (Ostapcuk et al, 2018; Kaaij et al, 2019). ChAHP competes for binding at a subset of SINE B2 CTCF-binding sites in the genome to decrease chromatin accessibility (Ostapcuk et al, 2018; Kaaij et al, 2019). ChAHP is recruited to chromatin through sequence-specific binding of ADNP to a GCCCCCTGGAG motif (Ostapcuk et al, 2019). Mutations in ADNP that abrogate the interaction with CBX proteins increase expression of ADNP-target genes, and in humans are associated with autism and neurodevelopmental disorders (Helsmoortel et al, 2014; Ostapcuk et al, 2018; Clemot-Dupont et al, 2025)

Literature References

PubMed ID	Title	Journal	Year
29795351	Activity-dependent neuroprotective protein recruits HP1 and CHD4 to control lineage-specifying genes Ostapcuk, V, Mohn, F, Carl, SH, Basters, A, Hess, D, Iesmantavicius, V, Lampersberger, L, Flemr, M, Pandey, A, Thomä, NH, Betschinger, J, Buhler, M	Nature	2018
39808658	The chromatin remodeler ADNP regulates neurodevelopmental disorder risk genes and neocortical neurogenesis Clémot-Dupont, S, Lourenço Fernandes, JA, Larrigan, S, Sun, X, Medisetti, S, Stanley, R, El Hankouri, Z, Joshi, SV, Picketts, DJ, Shekhar, K, Mattar, P	Proc Natl Acad Sci U S A	2025
31491387	The ChAHP Complex Counteracts Chromatin Looping at CTCF Sites that Emerged from SINE Expansions in Mouse Kaaij, LJT, Mohn, F, van der Weide, RH, de Wit, E, Buhler, M	Cell	2019
24531329	A SWI/SNF-related autism syndrome caused by de novo mutations in ADNP Helsmoortel, C, Vulto-van Silfhout, AT, Coe, BP, Vandeweyer, G, Rooms, L, van den Ende, J, Schuurs-Hoeijmakers, JH, Marcelis, CL, Willemsen, MH, Vissers, LE, Yntema, HG, Bakshi, M, Wilson, M, Witherspoon, KT, Malmgren, H, Nordgren, A, Annerén, G, Fichera, M, Bosco, P, Romano, C, de Vries, BB, Kleefstra, T, Kooy, RF, Eichler, EE, Van der Aa, N	Nat Genet	2014