• Gene id: 10943

Gene Summary

• Gene Symbol: MSL3   Gene   UCSC   Ensembl
• Aliases: MRSXBA, MRXS36, MRXSBA, MSL3L1
• Gene name: MSL complex subunit 3
• Alternate names: male-specific lethal 3 homolog, MSL3-like 1, male-specific lethal-3 protein-like 1,
• Gene location: Xp22.2 (11758158: 11775771)     Exons: 14     NC_000023.11
• Gene summary(Entrez): 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.
• OMIM: 300609

Protein Summary

• Protein general information: Q8N5Y2  
  • Name: Male specific lethal 3 homolog (Male specific lethal 3 homolog 1) (Male specific lethal 3 protein like 1) (MSL3 like 1)
  • Length: 521  
  • Mass: 59824
  • 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.
• Sequence:

  MSASEGMKFKFHSGEKVLCFEPDPTKARVLYDAKIVDVIVGKDEKGRKIPEYLIHFNGWNRSWDRWAAEDHVLRD
  TDENRRLQRKLARKAVARLRSTGRKKKRCRLPGVDSVLKGLPTEEKDENDENSLSSSSDCSENKDEEISEESDIE
  EKTEVKEEPELQTRREMEERTITIEIPEVLKKQLEDDCYYINRRKRLVKLPCQTNIITILESYVKHFAINAAFSA
  NERPRHHHVMPHANMNVHYIPAEKNVDLCKEMVDGLRITFDYTLPLVLLYPYEQAQYKKVTSSKFFLPIKESATS
  TNRSQEELSPSPPLLNPSTPQSTESQPTTGEPATPKRRKAEPEALQSLRRSTRHSANCDRLSESSASPQPKRRQQ
  DTSASMPKLFLHLEKKTPVHSRSSSPIPLTPSKEGSAVFAGFEGRRTNEINEVLSWKLVPDNYPPGDQPPPPSYI
  YGAQHLLRLFVKLPEILGKMSFSEKNLKALLKHFDLFLRFLAEYHDDFFPESAYVAACEAHYSTKNPRAIY

• Structural information:
  • Protein Domains: (32..9-)
    (/note="Chromo-)
    (168..51-)
    (/note="MRG-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00972"-)
  • Interpro: IPR016197  IPR000953  IPR008676  IPR038217  IPR026541   IPR025995  
  • Prosite: PS51640
  • PDB: 2Y0N 3OA6 3OB9
  • PDBsum: 2Y0N 3OA6 3OB9
  • DIP: 56857
  • STRING: ENSP00000312244
• Other Databases: GeneCards:  MSL3  Malacards:  MSL3

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0035267	NuA4 histone acetyltransferase complex	IBA	cellular component
GO:0000123	histone acetyltransferase complex	IBA	cellular component
GO:0006342	chromatin silencing	IBA	biological process
GO:0016573	histone acetylation	IBA	biological process
GO:0016575	histone deacetylation	IBA	biological process
GO:0043967	histone H4 acetylation	IBA	biological process
GO:0043968	histone H2A acetylation	IBA	biological process
GO:0043984	histone H4-K16 acetylation	IBA	biological process
GO:0072487	MSL complex	IBA	cellular component
GO:0035064	methylated histone binding	IDA	molecular function
GO:0072487	MSL complex	IDA	cellular component
GO:0043984	histone H4-K16 acetylation	IDA	biological process
GO:0003677	DNA binding	IDA	molecular function
GO:0005634	nucleus	IDA	cellular component
GO:0072487	MSL complex	IDA	cellular component
GO:0006355	regulation of transcription, DNA-templated	IMP	biological process
GO:0046972	histone acetyltransferase activity (H4-K16 specific)	IMP	molecular function
GO:0043984	histone H4-K16 acetylation	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0006325	chromatin organization	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0006325	chromatin organization	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0003677	DNA binding	IEA	molecular function
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005634	nucleus	IEA	cellular component

Diseases

Associated diseases	References
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)