KANSL1

Chr 17q21.31

KAT8 regulatory NSL complex subunit 1

Aliases:: DKFZP727C091, MSL1v1, CENP-36, NSL1
MANE:: ENST00000432791.7

OMIM: 612452 ↗NCBI: 284058 ↗Ensembl ↗

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Predicted protein structure

AlphaFold predicted structure

KANSL1 · Q7Z3B3

v62025-08-01

Predicted Aligned Error matrix for KANSL1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

50.3/ 100

Low

1,105 residues

Confidence breakdown

Very high(≥ 90)5%
Confident(70–90)15%
Low(50–70)16%
Very low(< 50)65%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
IUGR and IGF abnormalities
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Clefting
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Rare syndromic craniosynostosis or isolated multisuture synostosis

Disease associations (Open Targets)

Koolen-de Vries syndrome
0.81
Intellectual disability
0.57
hereditary disease
0.54
Global developmental delay
0.46
neurodegenerative disease
0.41
Abnormality of the skeletal system
0.38
syndromic intellectual disability
0.37
Koolen-de Vries syndrome due to a point mutation
0.37
postinflammatory pulmonary fibrosis
0.35
osteoarthritis, hip
0.35

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

KAT8 regulatory NSL complex subunit 1

Non-catalytic component of the NSL histone acetyltransferase complex, a multiprotein complex that mediates histone H4 acetylation at 'Lys-5'- and 'Lys-8' (H4K5ac and H4K8ac) at transcription start sites and promotes transcription initiation (PubMed:20018852, PubMed:22547026, PubMed:33657400). The NSL complex also acts as a regulator of gene expression in mitochondria (PubMed:27768893). In addition to its role in transcription, KANSL1 also plays an essential role in spindle assembly during mitosis (PubMed:26243146). Associates with microtubule ends and contributes to microtubule stability (PubMed:26243146)