KANSL1 Gene Summary [Human]
This gene encodes a nuclear protein that is a subunit of two protein complexes involved with histone acetylation, the MLL1 complex and the NSL1 complex. The encoded protein has been implicated in a variety of cellular processes including enhancer regulation, cell proliferation, and mitosis. Mutations in this gene are associated with Koolen-de Vries Syndrome. [provided by RefSeq, May 2022]
Details
| Type | Retained Intron |
| Official Symbol | KANSL1 |
| Official Name | KAT8 regulatory NSL complex subunit 1 [Source:HGNC Symbol;Acc:HGNC:24565] |
| Ensembl ID | ENSG00000120071 |
| Bio databases IDs | |
| Aliases | KAT8 regulatory NSL complex subunit 1, centromere protein 36 |
| Synonyms | 1700081L11Rik, 9430041J06Rik, C17DELq21.31, CENP-36, DEL17Q21.31, DKFZP727C091, hMSL1v1, KAT8 regulatory NSL complex subunit 1, KDVS, KIAA1267, LOC284058, mKIAA1267, MSL1v1, NSL1, RGD1311429 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human KANSL1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- PEHE domain
- protein binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- COVID-19
- Koolen-de Vries syndrome
- diabetic nephropathy
- schizophrenia
- non-insulin-dependent diabetes mellitus
- hereditary disorder
- breast carcinoma
- mental retardation
- urinary bladder stone
- postmenopausal osteoporosis
regulates
- reactive oxygen species
- STX17
role in cell
- expression in
- accumulation in
- accumulation
- fusion
- function
- fusion in
- replication in
- autophagy in
- mitophagy in
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Nucleus
- Mitochondria
- nucleoplasm
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human KANSL1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- positive regulation of transcription, DNA-dependent
- chromatin organization
Cellular Component
Where in the cell the gene product is active
- nucleus
- mitochondrion
- kinetochore
- NSL complex
- nucleoplasm
- MLL1 complex
- histone acetyltransferase complex
Molecular Function
What the gene product does at the molecular level
- histone acetyltransferase binding
- protein binding