Identity
HGNC
LOCATION
17q21.31
LOCUSID
ALIAS
CENP-36,KDVS,KIAA1267,MSL1v1,NSL1,hMSL1v1
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 284058
MIM: 612452
HGNC: 24565
Ensembl: ENSG00000120071
Variants:
dbSNP: 284058
ClinVar: 284058
TCGA: ENSG00000120071
COSMIC: KANSL1
RNA/Proteins
Expression (GTEx)
Pathways
| Pathway | Source | External ID |
|---|---|---|
| Chromatin organization | REACTOME | R-HSA-4839726 |
| Chromatin modifying enzymes | REACTOME | R-HSA-3247509 |
| HATs acetylate histones | REACTOME | R-HSA-3214847 |
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38282074 | 2024 | A new blood DNA methylation signature for Koolen-de Vries syndrome: Classification of missense KANSL1 variants and comparison to fibroblast cells. | 1 |
| 38282074 | 2024 | A new blood DNA methylation signature for Koolen-de Vries syndrome: Classification of missense KANSL1 variants and comparison to fibroblast cells. | 1 |
| 33361104 | 2022 | Adult phenotype in Koolen-de Vries/KANSL1 haploinsufficiency syndrome. | 2 |
| 35575789 | 2022 | Recurrent KAT6B/A::KANSL1 Fusions Characterize a Potentially Aggressive Uterine Sarcoma Morphologically Overlapping With Low-grade Endometrial Stromal Sarcoma. | 2 |
| 33361104 | 2022 | Adult phenotype in Koolen-de Vries/KANSL1 haploinsufficiency syndrome. | 2 |
| 35575789 | 2022 | Recurrent KAT6B/A::KANSL1 Fusions Characterize a Potentially Aggressive Uterine Sarcoma Morphologically Overlapping With Low-grade Endometrial Stromal Sarcoma. | 2 |
| 33229045 | 2021 | Analysis in epithelial ovarian cancer identifies KANSL1 as a biomarker and target gene for immune response and HDAC inhibition. | 12 |
| 33229045 | 2021 | Analysis in epithelial ovarian cancer identifies KANSL1 as a biomarker and target gene for immune response and HDAC inhibition. | 12 |
| 29352316 | 2018 | KANSL1 variation is not a major contributing factor in self-limited focal epilepsy syndromes of childhood. | 1 |
| 29352316 | 2018 | KANSL1 variation is not a major contributing factor in self-limited focal epilepsy syndromes of childhood. | 1 |
| 28211987 | 2017 | 10-year-old female with intragenic KANSL1 mutation, no KANSL1-related intellectual disability, and preserved verbal intelligence. | 2 |
| 28496102 | 2017 | Partial microduplication in the histone acetyltransferase complex member KANSL1 is associated with congenital heart defects in 22q11.2 microdeletion syndrome patients. | 22 |
| 28211987 | 2017 | 10-year-old female with intragenic KANSL1 mutation, no KANSL1-related intellectual disability, and preserved verbal intelligence. | 2 |
| 28496102 | 2017 | Partial microduplication in the histone acetyltransferase complex member KANSL1 is associated with congenital heart defects in 22q11.2 microdeletion syndrome patients. | 22 |
| 26243146 | 2015 | An epigenetic regulator emerges as microtubule minus-end binding and stabilizing factor in mitosis. | 30 |
Citation
Dessen P
KANSL1 (KAT8 regulatory NSL complex subunit 1)
Atlas Genet Cytogenet Oncol Haematol. 2014-08-01
Online version: http://atlasgeneticsoncology.org/gene/54391
