MSL1
gene geneOn this page
Also known as hMSL1MSL-1DKFZp686P24239
Summary
MSL1 (MSL complex subunit 1, HGNC:27905) is a protein-coding gene on chromosome 17q21.1, encoding Male-specific lethal 1 homolog (Q68DK7). Non-catalytic component of the MSL histone acetyltransferase complex, a multiprotein complex that mediates the majority of histone H4 acetylation at ‘Lys-16’ (H4K16ac), an epigenetic mark that prevents chromatin compaction. It is a selective cancer dependency (DepMap: 26.5% of cell lines).
Enables protein-macromolecule adaptor activity. Involved in positive regulation of DNA-templated transcription. Located in nucleoplasm. Part of MSL complex.
Source: NCBI Gene 339287 — RefSeq curated summary.
At a glance
- Clinical variants (ClinVar): 46 total
- Druggable target: yes — 1 molecules with ChEMBL bioactivity
- Cancer dependency (DepMap): dependent in 26.5% of screened cell lines
- MANE Select transcript:
NM_001365919
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:27905 |
| Approved symbol | MSL1 |
| Name | MSL complex subunit 1 |
| Location | 17q21.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | hMSL1, MSL-1, DKFZp686P24239 |
| Ensembl gene | ENSG00000188895 |
| Ensembl biotype | protein_coding |
| OMIM | 614801 |
| Entrez | 339287 |
Gene structure
Transcript identifiers
Ensembl transcripts: 12 — 6 protein_coding, 5 retained_intron, 1 nonsense_mediated_decay
ENST00000339569, ENST00000398532, ENST00000577454, ENST00000578648, ENST00000578826, ENST00000579565, ENST00000580086, ENST00000581246, ENST00000582884, ENST00000582920, ENST00000583127, ENST00000947390
RefSeq mRNA: 4 — MANE Select: NM_001365919
NM_001012241, NM_001365919, NM_001365920, NM_001365921
CCDS: CCDS45670, CCDS92297, CCDS92298, CCDS92299
Canonical transcript exons
ENST00000398532 — 9 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001726739 | 40129245 | 40129627 |
| ENSE00002694593 | 40121971 | 40123380 |
| ENSE00002723822 | 40134279 | 40136917 |
| ENSE00003508999 | 40132034 | 40132098 |
| ENSE00003550501 | 40133827 | 40133899 |
| ENSE00003554521 | 40133534 | 40133658 |
| ENSE00003572267 | 40131537 | 40131584 |
| ENSE00003630912 | 40126183 | 40126406 |
| ENSE00003674340 | 40133042 | 40133109 |
Expression profiles
Bgee: expression breadth ubiquitous, 294 present calls, max score 98.89.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 27.3887 / max 346.9585, expressed in 1814 samples.
FANTOM5 promoters (8 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 160682 | 13.2326 | 1769 |
| 160680 | 11.3829 | 1787 |
| 160681 | 0.8610 | 470 |
| 160683 | 0.5683 | 250 |
| 160679 | 0.5536 | 311 |
| 160678 | 0.3923 | 225 |
| 160677 | 0.2441 | 103 |
| 160684 | 0.1539 | 51 |
Top tissues by expression
295 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| ventricular zone | UBERON:0003053 | 98.89 | gold quality |
| ganglionic eminence | UBERON:0004023 | 98.67 | gold quality |
| cortical plate | UBERON:0005343 | 98.63 | gold quality |
| endocervix | UBERON:0000458 | 98.08 | gold quality |
| mucosa of stomach | UBERON:0001199 | 97.90 | gold quality |
| body of uterus | UBERON:0009853 | 97.89 | gold quality |
| right lung | UBERON:0002167 | 97.81 | gold quality |
| right uterine tube | UBERON:0001302 | 97.71 | gold quality |
| blood | UBERON:0000178 | 97.67 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 97.59 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 97.57 | gold quality |
| left uterine tube | UBERON:0001303 | 97.53 | gold quality |
| cerebellar cortex | UBERON:0002129 | 97.50 | gold quality |
| secondary oocyte | CL:0000655 | 97.45 | gold quality |
| tibial nerve | UBERON:0001323 | 97.38 | gold quality |
| left lobe of thyroid gland | UBERON:0001120 | 97.35 | gold quality |
| right lobe of thyroid gland | UBERON:0001119 | 97.33 | gold quality |
| descending thoracic aorta | UBERON:0002345 | 97.33 | gold quality |
| ectocervix | UBERON:0012249 | 97.29 | gold quality |
| right ovary | UBERON:0002118 | 97.24 | gold quality |
| left ovary | UBERON:0002119 | 97.14 | gold quality |
| muscle layer of sigmoid colon | UBERON:0035805 | 97.13 | gold quality |
| pituitary gland | UBERON:0000007 | 97.08 | gold quality |
| esophagogastric junction muscularis propria | UBERON:0035841 | 97.07 | gold quality |
| spleen | UBERON:0002106 | 97.04 | gold quality |
| lower esophagus muscularis layer | UBERON:0035833 | 97.01 | gold quality |
| right testis | UBERON:0004534 | 97.00 | gold quality |
| lower esophagus | UBERON:0013473 | 97.00 | gold quality |
| small intestine Peyer’s patch | UBERON:0003454 | 96.95 | gold quality |
| cerebellum | UBERON:0002037 | 96.94 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 8.57 |
| E-MTAB-7249 | no | 829.38 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
128 targeting MSL1, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):
| miRNA | Max score | Avg score | miRNA target_count |
|---|---|---|---|
| HSA-MIR-8485 | 100.00 | 77.57 | 4731 |
| HSA-MIR-188-3P | 100.00 | 68.76 | 1240 |
| HSA-MIR-6873-3P | 100.00 | 71.42 | 2626 |
| HSA-MIR-6833-3P | 100.00 | 70.63 | 3197 |
| HSA-MIR-4768-5P | 100.00 | 69.49 | 2861 |
| HSA-MIR-4534 | 99.99 | 66.58 | 1907 |
| HSA-MIR-186-5P | 99.99 | 70.83 | 3707 |
| HSA-MIR-4789-3P | 99.99 | 70.75 | 2484 |
| HSA-MIR-8068 | 99.98 | 73.85 | 2376 |
| HSA-MIR-27A-3P | 99.98 | 72.13 | 2955 |
| HSA-MIR-27B-3P | 99.98 | 72.13 | 2955 |
| HSA-MIR-9985 | 99.98 | 72.11 | 2939 |
| HSA-MIR-3692-3P | 99.98 | 70.27 | 2139 |
| HSA-MIR-7152-3P | 99.97 | 67.47 | 849 |
| HSA-MIR-3148 | 99.97 | 75.06 | 6478 |
| HSA-MIR-507 | 99.97 | 70.11 | 1915 |
| HSA-MIR-302E | 99.96 | 70.74 | 2669 |
| HSA-MIR-570-3P | 99.96 | 72.41 | 4910 |
| HSA-MIR-557 | 99.96 | 70.01 | 1640 |
| HSA-MIR-128-3P | 99.95 | 71.17 | 2484 |
| HSA-MIR-216A-3P | 99.95 | 71.19 | 2505 |
| HSA-MIR-8082 | 99.95 | 67.27 | 1170 |
| HSA-MIR-1236-3P | 99.94 | 68.04 | 1695 |
| HSA-MIR-6845-3P | 99.94 | 66.88 | 1439 |
| HSA-MIR-6809-3P | 99.91 | 71.45 | 3814 |
| HSA-MIR-4753-3P | 99.90 | 71.03 | 3786 |
| HSA-MIR-627-3P | 99.90 | 71.42 | 3316 |
| HSA-MIR-3529-3P | 99.90 | 73.55 | 3045 |
| HSA-MIR-302A-3P | 99.89 | 71.23 | 1777 |
| HSA-MIR-302B-3P | 99.89 | 71.23 | 1777 |
Functional genomics
DepMap (CRISPR cell-line fitness): dependent in 26.5% of screened cell lines.
Literature-anchored findings (GeneRIF, showing 5)
- A multisubunit human histone acetylase complex that contains homologs of the Drosophila MSL proteins MOF, MSL1 (hampin A), MSL2, and MSL3 was described. This complex is responsible for histone H4 lysine-16 acetylation of all cellular chromosomes. (PMID:16227571)
- MSL1 plays an important role in mediating irradiation-induced DNA repair through formation of HAT complexes and interaction with 53BP1. P8 acts as a negative regulator of this process by interacting with MSL1 and preventing its role on HAT activity. (PMID:19650074)
- The MSL1 bound to Nupr1, with a moderate affinity (2.8 microM) in an entropically-driven process. MSL1 did not bind to non-damaged DNA, but it bound to chemically-damaged-DNA with a moderate affinity (1.2 microM) also in an entropically-driven process. (PMID:24205110)
- Studies identi fi ed a novel signal of nuclear localization (NLS) in all MSL1 protein isoforms and found that the combination of both NLS allows for its intra-nuclear focal accumulation and nuclear transport of TTC4 while all MSL1 isoforms affect H4K16Ac. (PMID:24913909)
- Shift in MSL1 alternative polyadenylation in response to DNA damage protects cancer cells from chemotherapeutic agent-induced apoptosis. (PMID:34644577)
Cross-species orthologs
6 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | msl1a | ENSDARG00000074734 |
| danio_rerio | msl1b | ENSDARG00000090223 |
| mus_musculus | Msl1 | ENSMUSG00000052915 |
| rattus_norvegicus | Msl1 | ENSRNOG00000009643 |
| drosophila_melanogaster | msl-1 | FBGN0005617 |
| drosophila_melanogaster | CG12316 | FBGN0036483 |
Protein
Protein identifiers
Male-specific lethal 1 homolog — Q68DK7 (reviewed: Q68DK7)
Alternative names: Male-specific lethal 1-like 1, Male-specific lethal-1 homolog 1
All UniProt accessions (5): J3KRQ4, Q68DK7, J3KSZ8, J3KTC2, J3QQY0
UniProt curated annotations — full annotation on UniProt →
Function. Non-catalytic component of the MSL histone acetyltransferase complex, a multiprotein complex that mediates the majority of histone H4 acetylation at ‘Lys-16’ (H4K16ac), an epigenetic mark that prevents chromatin compaction. The MSL complex is required for chromosome stability and genome integrity by maintaining homeostatic levels of H4K16ac. The MSL complex is also involved in gene dosage by promoting up-regulation of genes expressed by the X chromosome. X up-regulation is required to compensate for autosomal biallelic expression. The MSL complex also participates in gene dosage compensation by promoting expression of Tsix non-coding RNA. Within the MSL complex, acts as a scaffold to tether MSL3 and KAT8 together for enzymatic activity regulation. Greatly enhances MSL2 E3 ubiquitin ligase activity, promoting monoubiquitination of histone H2B at ‘Lys-34’ (H2BK34Ub). This modification in turn stimulates histone H3 methylation at ‘Lys-4’ (H3K4me) and ‘Lys-79’ (H3K79me) and leads to gene activation, including that of HOXA9 and MEIS1.
Subunit / interactions. Component of a multisubunit histone acetyltransferase complex (MSL) at least composed of the KAT8/MOF/MYST1, MSL1/hampin, MSL2 and MSL3. Forms a MSL heterotetrameric core with MSL2. Interacts (via PEHE domain) with KAT8 (via HAT domain) and MSL3 (via MRG domain); both interactions are direct. Directly interacts with NUPR1. Interacts with TP53BP1; this interaction may be required for MSL1 DNA repair activity, but not for histone acetyltransferase activity. Interacts with TTC4, ECM2 and PIHD1.
Subcellular location. Nucleus. Nucleoplasm. Nucleus speckle.
Post-translational modifications. Sumoylated with SUMO1.
Domain organisation. The coiled coil is formed by helices from two subunits in the MSL1 homodimer.
Induction. Up-regulated by gamma-irradiation.
Similarity. Belongs to the msl-1 family.
Isoforms (3)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q68DK7-1 | 1 | yes |
| Q68DK7-2 | 2 | |
| Q68DK7-3 | 3 |
RefSeq proteins (4): NP_001012241, NP_001352848, NP_001352849, NP_001352850 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR026711 | Msl-1 | Family |
| IPR029332 | PEHE_dom | Domain |
| IPR031840 | MSL1_dimer | Domain |
Pfam: PF15275, PF16801
UniProt features (34 total): compositionally biased region 7, modified residue 7, region of interest 6, cross-link 3, short sequence motif 2, splice variant 2, helix 2, chain 1, domain 1, sequence conflict 1, strand 1, coiled-coil region 1
Structure
Experimental structures (PDB)
3 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 4DNC | X-RAY DIFFRACTION | 2.05 |
| 4B7Y | X-RAY DIFFRACTION | 3.25 |
| 4B86 | X-RAY DIFFRACTION | 3.5 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q68DK7-F1 | 59.04 | 0.15 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Post-translational modifications (10): 66, 126, 205, 353, 393, 396, 442, 301, 365, 378
Function
Pathways and Gene Ontology
Reactome pathways
3 pathways
| ID | Pathway |
|---|---|
| R-HSA-3214847 | HATs acetylate histones |
| R-HSA-3247509 | Chromatin modifying enzymes |
| R-HSA-4839726 | Chromatin organization |
MSigDB gene sets: 184 (showing top):
GSE18804_SPLEEN_MACROPHAGE_VS_BRAIN_TUMORAL_MACROPHAGE_UP, GSE18804_SPLEEN_MACROPHAGE_VS_TUMORAL_MACROPHAGE_UP, GCM_GSPT1, ONKEN_UVEAL_MELANOMA_UP, GCM_NUMA1, DODD_NASOPHARYNGEAL_CARCINOMA_UP, HOEBEKE_LYMPHOID_STEM_CELL_UP, BILBAN_B_CLL_LPL_DN, GCM_NF2, GNF2_DDX5, GNF2_PTPRC, GNF2_SNRK, GOBP_CHROMATIN_REMODELING, GOCC_H4_HISTONE_ACETYLTRANSFERASE_COMPLEX, GOMF_CHROMATIN_BINDING
GO Biological Process (3): chromatin remodeling (GO:0006338), positive regulation of DNA-templated transcription (GO:0045893), chromatin organization (GO:0006325)
GO Molecular Function (2): protein-macromolecule adaptor activity (GO:0030674), protein binding (GO:0005515)
GO Cellular Component (4): nucleus (GO:0005634), nucleoplasm (GO:0005654), nuclear speck (GO:0016607), MSL complex (GO:0072487)
Reactome top-level categories
Rollup of top-2 pathways:
| Category | Pathways |
|---|---|
| Chromatin modifying enzymes | 1 |
| Chromatin organization | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| chromatin organization | 1 |
| DNA-templated transcription | 1 |
| regulation of DNA-templated transcription | 1 |
| positive regulation of RNA biosynthetic process | 1 |
| cellular component organization | 1 |
| protein binding | 1 |
| molecular adaptor activity | 1 |
| binding | 1 |
| intracellular membrane-bounded organelle | 1 |
| nuclear lumen | 1 |
| cellular anatomical structure | 1 |
| nuclear ribonucleoprotein granule | 1 |
| H4 histone acetyltransferase complex | 1 |
Protein interactions and networks
STRING
1382 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| MSL1 | MSL3 | Q8N5Y2 | 980 |
| MSL1 | MSL2 | Q9HCI7 | 972 |
| MSL1 | TANGO6 | Q9C0B7 | 528 |
| MSL1 | DTWD2 | Q8NBA8 | 459 |
| MSL1 | JAK1 | P23458 | 451 |
| MSL1 | DHX9 | Q08211 | 402 |
| MSL1 | DYM | Q7RTS9 | 394 |
| MSL1 | KAT8 | Q9H7Z6 | 390 |
| MSL1 | H4C7 | Q99525 | 390 |
| MSL1 | KANSL2 | Q9H9L4 | 388 |
| MSL1 | H4C16 | P02304 | 379 |
| MSL1 | TTYH3 | Q9C0H2 | 349 |
| MSL1 | HINT3 | Q9NQE9 | 343 |
| MSL1 | GATAD1 | Q8WUU5 | 337 |
| MSL1 | KANSL3 | Q9P2N6 | 334 |
IntAct
50 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| GMNN | MCIDAS | psi-mi:“MI:0914”(association) | 0.770 |
| MSL3 | MSL1 | psi-mi:“MI:0914”(association) | 0.760 |
| WDR5 | MEN1 | psi-mi:“MI:0914”(association) | 0.710 |
| MSL1 | MSL2 | psi-mi:“MI:0915”(physical association) | 0.670 |
| KAT8 | MSL1 | psi-mi:“MI:0914”(association) | 0.640 |
| PBK | TRIM37 | psi-mi:“MI:0914”(association) | 0.550 |
| MSL1 | MSL3B | psi-mi:“MI:0914”(association) | 0.530 |
| MSL2 | HBB | psi-mi:“MI:0914”(association) | 0.530 |
| H3C1 | SMCHD1 | psi-mi:“MI:2364”(proximity) | 0.410 |
| MSL1 | TOMM70 | psi-mi:“MI:0915”(physical association) | 0.400 |
| Kat8 | PHF20L1 | psi-mi:“MI:0915”(physical association) | 0.400 |
| NUPR1 | MSL1 | psi-mi:“MI:0915”(physical association) | 0.370 |
| MSL1 | HSPB1 | psi-mi:“MI:0915”(physical association) | 0.370 |
| ESR1 | ESYT2 | psi-mi:“MI:0914”(association) | 0.350 |
| MSL2 | IGHG2 | psi-mi:“MI:0914”(association) | 0.350 |
| MSL3 | TUBA1B | psi-mi:“MI:0914”(association) | 0.350 |
| KAT8 | HCFC1 | psi-mi:“MI:0914”(association) | 0.350 |
| KAT8 | MSL3B | psi-mi:“MI:0914”(association) | 0.350 |
| MSL3 | MSL1 | psi-mi:“MI:0914”(association) | 0.350 |
| SOX2 | CBX4 | psi-mi:“MI:0914”(association) | 0.350 |
| CEP135 | MCRIP1 | psi-mi:“MI:0914”(association) | 0.350 |
| CEP135 | WWP2 | psi-mi:“MI:0914”(association) | 0.350 |
| H2AZ1 | SUPT5H | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (131): MSL1 (Affinity Capture-RNA), MSL1 (Affinity Capture-RNA), MSL1 (Co-localization), MSL1 (Reconstituted Complex), MSL1 (Two-hybrid), MSL1 (Affinity Capture-Western), NUPR1 (Affinity Capture-Western), MSL1 (Reconstituted Complex), TP53BP1 (Two-hybrid), MORF4L1 (Two-hybrid), RAN (Two-hybrid), KPNB1 (Two-hybrid), SNW1 (Two-hybrid), MRGBP (Two-hybrid), PPM1G (Two-hybrid)
ESM2 similar proteins: A0A1L8HBI7, A0A1L8HJK9, A0A1L8HTT5, A6NP61, A8T6P4, C0SPG1, C3VD30, F1N4E5, K7SGN7, O35144, O35253, O70240, O88406, O88566, Q15554, Q1XFL1, Q3ZC82, Q4KLH3, Q5HZN9, Q5JTV8, Q5PQX1, Q5R7A3, Q62315, Q68DK7, Q6P1H6, Q6PDM1, Q6PG95, Q6ZPF3, Q76N89, Q7T3T8, Q7T3T9, Q7T3U0, Q7TNY7, Q7TP65, Q7TSX9, Q80SU3, Q80VM8, Q86XL3, Q8IVF5, Q8K3I4
Diamond homologs: A9JRX0, Q68DK7, Q6PDM1
SIGNOR signaling
2 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| MSL1 | “form complex” | “MSL acetyltransferase” | binding |
| MSL1 | “down-regulates activity” | H2BC21 | monoubiquitination |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 57 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.
Reactome pathways:
| Pathway | Partners | Fold | FDR |
|---|---|---|---|
| Formation of WDR5-containing histone-modifying complexes | 5 | 32.4× | 8e-05 |
| Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks | 5 | 17.9× | 1e-03 |
| HATs acetylate histones | 8 | 15.5× | 1e-05 |
| Formation of the beta-catenin:TCF transactivating complex | 5 | 14.7× | 2e-03 |
| G2/M DNA damage checkpoint | 5 | 14.7× | 2e-03 |
| Activation of anterior HOX genes in hindbrain development during early embryogenesis | 5 | 11.1× | 4e-03 |
| Estrogen-dependent gene expression | 5 | 9.2× | 6e-03 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| chromatin organization | 6 | 11.0× | 1e-03 |
| chromatin remodeling | 6 | 8.1× | 4e-03 |
| DNA damage response | 8 | 7.9× | 9e-04 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
46 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 29 |
| Likely benign | 0 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
0 predictions. Top by Δscore:
AlphaMissense
3929 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 17:40123295:T:C | L228P | 1.000 |
| 17:40123307:T:C | L232P | 1.000 |
| 17:40123310:T:A | I233N | 1.000 |
| 17:40123319:A:C | Q236P | 1.000 |
| 17:40123322:A:C | Q237P | 1.000 |
| 17:40123331:T:C | L240P | 1.000 |
| 17:40123361:T:C | L250P | 1.000 |
| 17:40126184:T:C | L257P | 1.000 |
| 17:40126214:G:C | R267P | 1.000 |
| 17:40132042:T:A | W478R | 1.000 |
| 17:40132042:T:C | W478R | 1.000 |
| 17:40132044:G:C | W478C | 1.000 |
| 17:40132044:G:T | W478C | 1.000 |
| 17:40133070:G:C | R506P | 1.000 |
| 17:40133072:C:G | H507D | 1.000 |
| 17:40133078:A:G | K509E | 1.000 |
| 17:40133080:A:C | K509N | 1.000 |
| 17:40133080:A:T | K509N | 1.000 |
| 17:40133088:T:C | L512P | 1.000 |
| 17:40133093:G:A | E514K | 1.000 |
| 17:40133094:A:T | E514V | 1.000 |
| 17:40133095:G:C | E514D | 1.000 |
| 17:40133095:G:T | E514D | 1.000 |
| 17:40133100:G:C | R516T | 1.000 |
| 17:40133101:A:C | R516S | 1.000 |
| 17:40133101:A:T | R516S | 1.000 |
| 17:40133103:G:C | R517T | 1.000 |
| 17:40133103:G:T | R517M | 1.000 |
| 17:40133104:G:C | R517S | 1.000 |
| 17:40133104:G:T | R517S | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000004266 (17:40132883 T>G), RS1000010481 (17:40121793 G>A,C), RS1000210652 (17:40130830 A>G), RS1000819970 (17:40122264 A>G), RS1000877987 (17:40121575 G>A), RS1001001211 (17:40134153 A>C), RS1001191644 (17:40128137 G>A), RS1001263871 (17:40122285 G>A,C,T), RS1001390872 (17:40127759 T>G), RS1001507452 (17:40126184 T>A), RS1001681073 (17:40134758 T>G), RS1002000491 (17:40128077 G>A), RS1002082167 (17:40123677 G>C,T), RS1002119585 (17:40135584 G>T), RS1002695218 (17:40135518 G>A)
Disease associations
OMIM: gene MIM:614801 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
0 associations (top):
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL5725182 (SINGLE PROTEIN)
Molecules with ChEMBL bioactivity
1 molecules (phase ≥1), by development phase (incl. off-target/promiscuous compounds). Patent mentions across the top 20 by phase: 1,538 (via chembl_molecule»patent_compound — counts attach to the compound, not the gene–compound relationship, so off-target/promiscuous molecules can dominate).
| Molecule | Name | Phase | Patents |
|---|---|---|---|
| CHEMBL1232461 | MOLIBRESIB | 2 | 1,538 |
PharmGKB: 1 entry (VIP=true, CPIC=false)
ChEMBL bioactivities
1 potent at pChembl≥5 of 1 total, top 1 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).
| pChembl | Type | Value | Unit | Molecule |
|---|---|---|---|---|
| 5.79 | IC50 | 1640 | nM | MOLIBRESIB |
PubChem BioAssay actives
1 with measured affinity, of 6 total; 1 most potent distinct compounds. Largely complementary to BindingDB; screening values are coarse (µM, 4 dp), so sub-nM hits tie at the floor.
| Compound | Assay | Type | Value | Unit |
|---|---|---|---|---|
| 2-[(4S)-6-(4-chlorophenyl)-8-methoxy-1-methyl-4H-[1,2,4]triazolo[4,3-a][1,4]benzodiazepin-4-yl]-N-ethylacetamide | 2179053: Inhibition of MSL1 (unknown origin) incubated for 1 hr by colloidal coomassie staining based LC-MS/MS analysis | ic50 | 1.6400 | uM |
CTD chemical–gene interactions
37 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects cotreatment, decreases expression, affects expression | 9 |
| trichostatin A | decreases expression, affects expression, affects cotreatment | 4 |
| Panobinostat | affects expression, increases reaction, decreases expression | 2 |
| Lead | affects splicing, decreases expression | 2 |
| Phenylmercuric Acetate | decreases expression, affects cotreatment | 2 |
| aristolochic acid I | increases expression | 1 |
| FR900359 | affects phosphorylation | 1 |
| methylmercuric chloride | decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| methylparaben | decreases expression | 1 |
| sodium arsenite | decreases expression | 1 |
| butyraldehyde | decreases expression | 1 |
| acetochlor | affects methylation, increases abundance | 1 |
| pentanal | decreases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| apicidin | decreases expression | 1 |
| corosolic acid | increases expression | 1 |
| scriptaid | decreases expression | 1 |
| bazedoxifene | increases expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, decreases expression | 1 |
| dorsomorphin | affects cotreatment, decreases expression | 1 |
| (+)-JQ1 compound | affects expression, increases reaction | 1 |
| Resveratrol | affects cotreatment, decreases expression | 1 |
| Sunitinib | increases expression | 1 |
| Vorinostat | decreases expression | 1 |
| Air Pollutants | affects expression, increases abundance | 1 |
| Antimycin A | increases expression | 1 |
| Arsenic | affects methylation | 1 |
| Caffeine | affects phosphorylation | 1 |
| Doxorubicin | decreases expression | 1 |
ChEMBL screening assays
6 unique, capped per target: 6 binding
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL5697783 | Binding | Inhibition of MSL1 (unknown origin) assessed as fold change at 10 uM incubated for 1 hr by colloidal coomassie staining based LC-MS/MS analysis | Inhibition of BET recruitment to chromatin as an effective treatment for MLL-fusion leukaemia. — Nature |
Cellosaurus cell lines
1 cell lines: 1 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_B1XP | Abcam HeLa MSL1 KO | Cancer cell line | Female |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.