• Gene id: 55234

Gene Summary

• Gene Symbol: SMU1   Gene   UCSC   Ensembl
• Aliases: BWD, SMU-1, fSAP57
• Gene name: SMU1 DNA replication regulator and spliceosomal factor
• Alternate names: WD40 repeat-containing protein SMU1, DNA replication regulator and spliceosomal factor, brain-enriched WD-repeat protein, functional spliceosome-associated protein 57, smu-1 suppressor of mec-8 and unc-52 homolog, smu-1 suppressor of mec-8 and unc-52 protein h,
• Gene location: 9p21.1 (33076704: 33041764)     Exons: 12     NC_000009.12
• OMIM: 617811

Protein Summary

• Protein general information: Q2TAY7  
  • Name: WD40 repeat containing protein SMU1 (Smu 1 suppressor of mec 8 and unc 52 protein homolog) [Cleaved into: WD40 repeat containing protein SMU1, N terminally processed]
  • Length: 513  
  • Mass: 57544
• Sequence:

  MSIEIESSDVIRLIMQYLKENSLHRALATLQEETTVSLNTVDSIESFVADINSGHWDTVLQAIQSLKLPDKTLID
  LYEQVVLELIELRELGAARSLLRQTDPMIMLKQTQPERYIHLENLLARSYFDPREAYPDGSSKEKRRAAIAQALA
  GEVSVVPPSRLMALLGQALKWQQHQGLLPPGMTIDLFRGKAAVKDVEEEKFPTQLSRHIKFGQKSHVECARFSPD
  GQYLVTGSVDGFIEVWNFTTGKIRKDLKYQAQDNFMMMDDAVLCMCFSRDTEMLATGAQDGKIKVWKIQSGQCLR
  RFERAHSKGVTCLSFSKDSSQILSASFDQTIRIHGLKSGKTLKEFRGHSSFVNEATFTQDGHYIISASSDGTVKI
  WNMKTTECSNTFKSLGSTAGTDITVNSVILLPKNPEHFVVCNRSNTVVIMNMQGQIVRSFSSGKREGGDFVCCAL
  SPRGEWIYCVGEDFVLYCFSTVTGKLERTLTVHEKDVIGIAHHPHQNLIATYSEDGLLKLWKP

• Structural information:
  • Protein Domains: (6..3-)
    (/note="LisH-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00126-)
    (40..9-)
    (/note="CTLH-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00058"-)
  • Interpro: IPR006595  IPR020472  IPR006594  IPR015943  IPR001680   IPR019775  IPR017986  IPR036322  
  • Prosite: PS50897 PS50896 PS00678 PS50082 PS50294
  • PDB: 5O9Z 6AHD 6Q8F 6Q8I 6Q8J
  • PDBsum: 5O9Z 6AHD 6Q8F 6Q8I 6Q8J
  • STRING: ENSP00000380336
• Other Databases: GeneCards:  SMU1  Malacards:  SMU1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005634	nucleus	IBA	cellular component
GO:0008380	RNA splicing	IBA	biological process
GO:0071011	precatalytic spliceosome	IBA	cellular component
GO:0000398	mRNA splicing, via spliceosome	IDA	biological process
GO:0071005	U2-type precatalytic spliceosome	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0000381	regulation of alternative mRNA splicing, via spliceosome	ISS	biological process
GO:0016607	nuclear speck	ISS	cellular component
GO:0006397	mRNA processing	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0016032	viral process	IEA	biological process
GO:0008380	RNA splicing	IEA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0016607	nuclear speck	IEA	cellular component

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
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)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq