• Gene id: 55796

Gene Summary

• Gene Symbol: MBNL3   Gene   UCSC   Ensembl
• Aliases: CHCR, MBLX, MBLX39, MBXL
• Gene name: muscleblind like splicing regulator 3
• Alternate names: muscleblind-like protein 3, Cys3His CCG1-required protein, muscleblind-like 3, muscleblind-like X-linked protein,
• Gene location: Xq26.2 (132490034: 132369313)     Exons: 17     NC_000023.11
• Gene summary(Entrez): This gene encodes a member of the muscleblind-like family of proteins. The encoded protein may function in regulation of alternative splicing and may play a role in the pathophysiology of myotonic dystrophy. Alternatively spliced transcript variants have
• OMIM: 300413

Protein Summary

• Protein general information: Q9NUK0  
  • Name: Muscleblind like protein 3 (Cys3His CCG1 required protein) (Muscleblind like X linked protein) (Protein HCHCR)
  • Length: 354  
  • Mass: 38532
  • Tissue specificity: Highly expressed in the placenta. {ECO
• Sequence:

  MTAVNVALIRDTKWLTLEVCREFQRGTCSRADADCKFAHPPRVCHVENGRVVACFDSLKGRCTRENCKYLHPPPH
  LKTQLEINGRNNLIQQKTAAAMFAQQMQLMLQNAQMSSLGSFPMTPSIPANPPMAFNPYIPHPGMGLVPAELVPN
  TPVLIPGNPPLAMPGAVGPKLMRSDKLEVCREFQRGNCTRGENDCRYAHPTDASMIEASDNTVTICMDYIKGRCS
  REKCKYFHPPAHLQARLKAAHHQMNHSAASAMALQPGTLQLIPKRSALEKPNGATPVFNPTVFHCQQALTNLQLP
  QPAFIPAGPILCMAPASNIVPMMHGATPTTVSAATTPATSVPFAAPTTGNQLKF

• Structural information:
  • Interpro: IPR000571  
  • Prosite: PS50103
  • STRING: ENSP00000359890
• Other Databases: GeneCards:  MBNL3  Malacards:  MBNL3

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005654	nucleoplasm	IBA	cellular component
GO:0000381	regulation of alternative mRNA splicing, via spliceosome	IBA	biological process
GO:0005737	cytoplasm	IBA	cellular component
GO:0005634	nucleus	IBA	cellular component
GO:0003723	RNA binding	IBA	molecular function
GO:0043484	regulation of RNA splicing	IDA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0007275	multicellular organism development	IEA	biological process
GO:0008380	RNA splicing	IEA	biological process
GO:0006397	mRNA processing	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0045662	negative regulation of myoblast differentiation	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0003723	RNA binding	HDA	molecular function
GO:0003723	RNA binding	HDA	molecular function

Diseases

Associated diseases	References
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

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)
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray