KANSL1
Function
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).
Involvement in disease
Koolen-De Vries syndrome
KDVS
An autosomal dominant, multisystem disorder characterized by hypotonia, developmental delay, moderate to severe intellectual disability, and distinctive dysmorphic features including tall, broad forehead, long face, upslanting palpebral fissures, epicanthal folds, tubular nose with bulbous nasal tip, and large ears. Expressive language development is particularly impaired compared with receptive language or motor skills. Additional features include social and friendly behavior, epilepsy, musculoskeletal anomalies, congenital heart defects, urogenital malformations, and ectodermal anomalies.
None
The disease is caused by variants affecting the gene represented in this entry.
Tissue Specificity
Expressed in the brain.
Cellular localization
- Nucleus
- Nucleus
- Chromosome
- Centromere
- Kinetochore
- Mitochondrion
Alternative names
CENP-36, KIAA1267, MSL1V1, NSL1, KANSL1, KAT8 regulatory NSL complex subunit 1, MLL1/MLL complex subunit KANSL1, MSL1 homolog 1, NSL complex protein NSL1, Non-specific lethal 1 homolog, hMSL1v1