• Gene id: 4154

Gene Summary

• Gene Symbol: MBNL1   Gene   UCSC   Ensembl
• Aliases: EXP, MBNL
• Gene name: muscleblind like splicing regulator 1
• Alternate names: muscleblind-like protein 1, muscleblind-like, triplet-expansion RNA-binding protein,
• Gene location: 3q25.1-q25.2 (93226806: 94408019)     Exons: 15     NC_000013.11
• Gene summary(Entrez): This gene encodes a member of the muscleblind protein family which was initially described in Drosophila melanogaster. The encoded protein is a C3H-type zinc finger protein that modulates alternative splicing of pre-mRNAs. Muscleblind proteins bind specif
• OMIM: 606516

Protein Summary

• Protein general information: Q9NR56  
  • Name: Muscleblind like protein 1 (Triplet expansion RNA binding protein)
  • Length: 388  
  • Mass: 41817
  • Tissue specificity: Highly expressed in cardiac, skeletal muscle and during myoblast differentiation. Weakly expressed in other tissues (at protein level). Expressed in heart, brain, placenta, lung, liver, skeletal muscle, kidney and pancreas. {ECO
• Sequence:

  MAVSVTPIRDTKWLTLEVCREFQRGTCSRPDTECKFAHPSKSCQVENGRVIACFDSLKGRCSRENCKYLHPPPHL
  KTQLEINGRNNLIQQKNMAMLAQQMQLANAMMPGAPLQPVPMFSVAPSLATNASAAAFNPYLGPVSPSLVPAEIL
  PTAPMLVTGNPGVPVPAAAAAAAQKLMRTDRLEVCREYQRGNCNRGENDCRFAHPADSTMIDTNDNTVTVCMDYI
  KGRCSREKCKYFHPPAHLQAKIKAAQYQVNQAAAAQAAATAAAMTQSAVKSLKRPLEATFDLGIPQAVLPPLPKR
  PALEKTNGATAVFNTGIFQYQQALANMQLQQHTAFLPPVPMVHGATPATVSAATTSATSVPFAATATANQIPIIS
  AEHLTSHKYVTQM

• Structural information:
  • Interpro: IPR000571  
  • Prosite: PS50103
  • PDB: 3D2N 3D2Q 3D2S 5U6H 5U6L 5U9B
  • PDBsum: 3D2N 3D2Q 3D2S 5U6H 5U6L 5U9B
  • STRING: ENSP00000282486
• Other Databases: GeneCards:  MBNL1  Malacards:  MBNL1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0003723	RNA binding	IBA	molecular function
GO:0005634	nucleus	IBA	cellular component
GO:0005737	cytoplasm	IBA	cellular component
GO:0000381	regulation of alternative mRNA splicing, via spliceosome	IBA	biological process
GO:0005654	nucleoplasm	IBA	cellular component
GO:0010494	cytoplasmic stress granule	IDA	cellular component
GO:0043484	regulation of RNA splicing	IDA	biological process
GO:0043484	regulation of RNA splicing	IDA	biological process
GO:0008380	RNA splicing	IDA	biological process
GO:0005634	nucleus	IDA	cellular component
GO:0003723	RNA binding	IDA	molecular function
GO:0003723	RNA binding	IDA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0006397	mRNA processing	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0008380	RNA splicing	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0003723	RNA binding	IEA	molecular function
GO:0005634	nucleus	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0001069	regulatory region RNA binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0003725	double-stranded RNA binding	IDA	molecular function
GO:0003723	RNA binding	HDA	molecular function
GO:0001701	in utero embryonic development	ISS	biological process
GO:0045445	myoblast differentiation	ISS	biological process
GO:0030326	embryonic limb morphogenesis	ISS	biological process
GO:0003723	RNA binding	HDA	molecular function
GO:0007399	nervous system development	ISS	biological process

Diseases

Associated diseases	References
Schizophrenia	PMID:17464717
Cryptorchidism	MIK: 21412036
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)
21412036	Cryptorchidism			23 (4 controls, 19 cases)	Male infertility	GSE25518 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)