• Gene id: 114803

Gene Summary

• Gene Symbol: MYSM1   Gene   UCSC   Ensembl
• Aliases: 2A-DUB, 2ADUB, BMFS4
• Gene name: Myb like, SWIRM and MPN domains 1
• Alternate names: histone H2A deubiquitinase MYSM1, myb-like, SWIRM and MPN domain-containing protein 1,
• Gene location: 1p32.1 (58700090: 58654738)     Exons: 23     NC_000001.11
• OMIM: 612176

Protein Summary

• Protein general information: Q5VVJ2  
  • Name: Histone H2A deubiquitinase MYSM1 (2A DUB) (EC 3.4.19. ) (Myb like, SWIRM and MPN domain containing protein 1)
  • Length: 828  
  • Mass: 95032
• Sequence:

  MAAEEADVDIEGDVVAAAGAQPGSGENTASVLQKDHYLDSSWRTENGLIPWTLDNTISEENRAVIEKMLLEEEYY
  LSKKSQPEKVWLDQKEDDKKYMKSLQKTAKIMVHSPTKPASYSVKWTIEEKELFEQGLAKFGRRWTKISKLIGSR
  TVLQVKSYARQYFKNKVKCGLDKETPNQKTGHNLQVKNEDKGTKAWTPSCLRGRADPNLNAVKIEKLSDDEEVDI
  TDEVDELSSQTPQKNSSSDLLLDFPNSKMHETNQGEFITSDSQEALFSKSSRGCLQNEKQDETLSSSEITLWTEK
  QSNGDKKSIELNDQKFNELIKNCNKHDGRGIIVDARQLPSPEPCEIQKNLNDNEMLFHSCQMVEESHEEEELKPP
  EQEIEIDRNIIQEEEKQAIPEFFEGRQAKTPERYLKIRNYILDQWEICKPKYLNKTSVRPGLKNCGDVNCIGRIH
  TYLELIGAINFGCEQAVYNRPQTVDKVRIRDRKDAVEAYQLAQRLQSMRTRRRRVRDPWGNWCDAKDLEGQTFEH
  LSAEELAKRREEEKGRPVKSLKVPRPTKSSFDPFQLIPCNFFSEEKQEPFQVKVASEALLIMDLHAHVSMAEVIG
  LLGGRYSEVDKVVEVCAAEPCNSLSTGLQCEMDPVSQTQASETLAVRGFSVIGWYHSHPAFDPNPSLRDIDTQAK
  YQSYFSRGGAKFIGMIVSPYNRNNPLPYSQITCLVISEEISPDGSYRLPYKFEVQQMLEEPQWGLVFEKTRWIIE
  KYRLSHSSVPMDKIFRRDSDLTCLQKLLECMRKTLSKVTNCFMAEEFLTEIENLFLSNYKSNQENGVTEENCTKE
  LLM

• Structural information:
  • Protein Domains: (116..16-)
    (/note="SANT-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00624-)
    (372..47-)
    (/note="SWIRM-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00247-)
    (577..70-)
    (/note="MPN-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU01182"-)
  • Interpro: IPR009057  IPR000555  IPR037518  IPR033497  IPR001005   IPR017884  IPR007526  
  • Prosite: PS50249 PS51293 PS50934
  • CDD: cd00167
  • PDB: 2CU7 2DCE
  • PDBsum: 2CU7 2DCE
  • DIP: 58941
  • STRING: ENSP00000418734
• Other Databases: GeneCards:  MYSM1  Malacards:  MYSM1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0042393	histone binding	IBA	molecular function
GO:0016514	SWI/SNF complex	IBA	cellular component
GO:0004843	thiol-dependent ubiquitin-specific protease activity	IBA	molecular function
GO:0045944	positive regulation of transcription by RNA polymerase II	IBA	biological process
GO:0008237	metallopeptidase activity	IBA	molecular function
GO:0006338	chromatin remodeling	IBA	biological process
GO:0003713	transcription coactivator activity	IBA	molecular function
GO:1903706	regulation of hemopoiesis	IMP	biological process
GO:0004843	thiol-dependent ubiquitin-specific protease activity	IEA	molecular function
GO:0035522	monoubiquitinated histone H2A deubiquitination	IEA	biological process
GO:0003677	DNA binding	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0006508	proteolysis	IEA	biological process
GO:0006325	chromatin organization	IEA	biological process
GO:0016787	hydrolase activity	IEA	molecular function
GO:0008233	peptidase activity	IEA	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0008237	metallopeptidase activity	IEA	molecular function
GO:0016579	protein deubiquitination	TAS	biological process
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0030334	regulation of cell migration	IEA	biological process
GO:0043473	pigmentation	IEA	biological process
GO:0051797	regulation of hair follicle development	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0036459	thiol-dependent ubiquitinyl hydrolase activity	IDA	molecular function
GO:0003713	transcription coactivator activity	IDA	molecular function
GO:0004843	thiol-dependent ubiquitin-specific protease activity	IDA	molecular function
GO:0042393	histone binding	IDA	molecular function
GO:0045944	positive regulation of transcription by RNA polymerase II	IMP	biological process
GO:0035522	monoubiquitinated histone H2A deubiquitination	IMP	biological process
GO:0008237	metallopeptidase activity	IMP	molecular function
GO:0006338	chromatin remodeling	IMP	biological process
GO:0032991	protein-containing complex	IPI	cellular component

Diseases

Associated diseases	References
Diabetic retinopathy	PMID:21310492
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)