Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
10943
Gene name Gene Name - the full gene name approved by the HGNC.
MSL complex subunit 3
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
MSL3
Synonyms (NCBI Gene) Gene synonyms aliases
MRSXBA, MRXS36, MRXSBA, MSL3L1
Disease Acronyms (UniProt) Disease acronyms from UniProt database
MRXSBA
Chromosome Chromosome number
X
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
Xp22.2
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a nuclear protein that is similar to the product of the Drosophila male-specific lethal-3 gene. The Drosophila protein plays a critical role in a dosage-compensation pathway, which equalizes X-linked gene expression in males and females.
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs768515139 C>-,CC Pathogenic Coding sequence variant, genic downstream transcript variant, frameshift variant
rs1555906707 T>C Pathogenic, likely-pathogenic Missense variant, coding sequence variant
rs1555906768 C>T Pathogenic, likely-pathogenic Stop gained, coding sequence variant
rs1555906781 TG>- Likely-pathogenic Frameshift variant, coding sequence variant
rs1555907215 C>- Likely-pathogenic Genic downstream transcript variant, frameshift variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT049772 hsa-miR-92a-3p qRT-PCR 23622248
MIRT051352 hsa-let-7f-5p CLASH 23622248
MIRT051183 hsa-miR-16-5p CLASH 23622248
MIRT050657 hsa-miR-18a-5p CLASH 23622248
MIRT050069 hsa-miR-26a-5p CLASH 23622248
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000123 Component Histone acetyltransferase complex IBA 21873635
GO:0003677 Function DNA binding IDA 20657587
GO:0005515 Function Protein binding IPI 30224647, 32814053
GO:0005634 Component Nucleus IDA 30224647
GO:0005654 Component Nucleoplasm TAS
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
300609 7370 ENSG00000005302
Protein
UniProt ID Q8N5Y2
Protein name MSL complex subunit 3 (Male-specific lethal 3 homolog) (Male-specific lethal-3 homolog 1) (Male-specific lethal-3 protein-like 1) (MSL3-like 1)
Protein 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 (PubMed:16227571, PubM
PDB 2Y0N , 3OA6 , 3OB9
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF11717 Tudor-knot 11 74 RNA binding activity-knot of a chromodomain Family
PF05712 MRG 151 506 MRG Family
Tissue specificity TISSUE SPECIFICITY: Expressed in many tissues including liver, pancreas, heart, lung, kidney, skeletal muscle, brain, and placenta, with highest expression in skeletal muscle and heart. {ECO:0000269|PubMed:10395802}.
Sequence
Sequence length 521
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    HATs acetylate histones
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Mental retardation Intellectual Disability rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315
View all (1024 more)
30224647
Associations from Text Mining
Disease Name Relationship Type References
Colitis Ulcerative Associate 38274809
Developmental Disabilities Associate 33173220
Genetic Diseases X Linked Associate 33173220
Intellectual Disability Associate 33173220
Ovarian Neoplasms Associate 31578411
Signs and Symptoms Digestive Associate 33173220
Syndrome Associate 33173220