MSL3 Gene
MSL Complex Subunit 3: Chromatin Reader and Transcriptional Regulator
Gene Information Card
| Symbol | MSL3 |
|---|---|
| Full Name | MSL complex subunit 3 |
| Gene Type | protein-coding |
| Chromosomal Location | Xp22.2 |
| NCBI Gene ID | 10943 ncbi.nlm.nih.gov/gene/10943 |
| Ensembl ID | ENSG00000101974 |
| UniProt ID | Q8N5Y2 |
| OMIM ID | 300609 |
| HGNC ID | 7370 |
| Aliases | MSL3L1, MSL3L2, hMSL3, MRTX |
Description
MSL3 (MSL complex subunit 3) encodes a component of the MSL (male-specific lethal) complex, which is involved in chromatin recognition and transcriptional activation. The protein contains a chromodomain that binds to histone H3 trimethylated at lysine 36 (H3K36me3) and facilitates the acetylation of histone H4 at lysine 16 (H4K16ac), a mark associated with active transcription. MSL3 plays a role in dosage compensation in Drosophila and is implicated in human cancers and developmental disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | MSL3 mutations may disrupt H4K16ac regulation, altering gene expression programs that promote tumorigenesis. | COSMIC; PMID: 26619011 |
| Intellectual disability (X-linked) | Loss-of-function variants in MSL3 are associated with syndromic intellectual disability, likely due to impaired chromatin regulation. | ClinVar; PMID: 30057031 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Bone marrow | 8.2 | Low |
| Lymph node | 7.9 | Low |
| Brain | 6.1 | Low |
| Liver | 5.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K562 (leukemia) | 10.1 | Myeloid cell line |
| HeLa (cervical cancer) | 9.4 | Epithelial cell line |
| HepG2 (liver cancer) | 7.8 | Hepatocellular carcinoma cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| p.Gln48* | Nonsense | <1% | Loss of function; truncation of chromodomain |
| p.Arg128Trp | Missense | <1% | Potential disruption of H3K36me3 binding |
| p.Leu200Pro | Missense | <1% | Unknown functional impact |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations that truncate the protein, leading to loss of chromodomain or MSL complex interaction.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • chromatin binding (GO:0003682) | • nucleus (GO:0005634) |
| • chromatin organization (GO:0006325) | • regulation of transcription by RNA polymerase II (GO:0006357) |
| • histone H4 acetylation (GO:0043966) |
Pathways
• MSL complex-mediated H4K16ac (Reactome: R-HSA-3214847)
• Chromatin modifying enzymes (KEGG: hsa05202)
Protein Summary
MSL3 is a 521-amino acid protein containing an N-terminal chromodomain that specifically recognizes H3K36me3. It is a core component of the MSL complex, which also includes MSL1, MSL2, and MOF (KAT8). The complex catalyzes the acetylation of H4K16, a mark that promotes an open chromatin state and facilitates transcription. MSL3 is ubiquitously expressed and localizes to the nucleus.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MSL3 Knockout HeLa Cell Line | EDJ-KQ32184 | Human | 10943 | Details Get a Quote |
| MSL3 Knockout HCT 116 Cell Line | EDJ-KQ32183 | Human | 10943 | Details Get a Quote |
| MSL3 Knockout A-549 Cell Line | EDJ-KQ32182 | Human | 10943 | Details Get a Quote |
| MSL3 Knockout HEK293 Cell Line | EDJ-KQ7222 | Human | 10943 | Details Get a Quote |
