• Gene id: 93349

Gene Summary

• Gene Symbol: SP140L   Gene   UCSC   Ensembl
• Gene name: SP140 nuclear body protein like
• Alternate names: nuclear body protein SP140-like protein, SP140L-1 protein, SP140L-2 protein, SP140L-3 protein,
• Gene location: 2q37.1 (230327151: 230407505)     Exons: 22     NC_000002.12
• OMIM: 603746

Protein Summary

• Protein general information: Q9H930  
  • Name: Nuclear body protein SP140 like protein
  • Length: 580  
  • Mass: 67005
• Sequence:

  MAGGGSDLSTRGLNGGVSQVANEMNHLPAHSQSLQRLFTEDQDVDEGLVYDTVFKHFKRHKLEISNAIKKTFPFL
  EGLRDRELITNKMFEDSEDSCRNLVPVQRVVYNVLSELEKTFNLSVLEALFSEVNMQEYPDLIHIYKSFKNAIQD
  KLSFQESDRKEREERPDIKLSLKQGEVPESPEARKESDQACGKMDTVDIANNSTLGKPKRKRRKKKGHGWSRMGT
  RTQKNNQQNDNSKADGQLVSSEKKANMNLKDLSKIRGRKRGKPGTHFTQSDRAPQKRVRSRASRKHKDETVDFQA
  PLLPVTCGGVKGILHKEKLEQGTLAKCIQTEDGKWFTPMEFEIKGGYARSKNWRLSVRCGGWPLRRLMEEGSLPN
  PPRIYYRNKKRILKSQNNSSVDPCMRNLDECEVCRDGGELFCCDTCSRVFHEDCHIPPVESEKTPWNCIFCRMKE
  SPGSQQCCQESEVLERQMCPEEQLKCEFLLLKVYCCSESSFFAKIPYYYYIREACQGLKEPMWLDKIKKRLNEHG
  YPQVEGFVQDMRLIFQNHRASYKYKDFGQMGLRLEAEFEKDFKEVFAIQETNGNS

• Structural information:
  • Protein Domains: (33..14-)
    (/note="HSR-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00747-)
    (293..37-)
    (/note="SAND-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00185-)
    (484..55-)
    (/note="Bromo-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00035"-)
  • Interpro: IPR001487  IPR036427  IPR004865  IPR010919  IPR000770   IPR019786  IPR011011  IPR001965  IPR019787  
  • Prosite: PS50014 PS51414 PS50864 PS01359 PS50016
  • STRING: ENSP00000397911
• Other Databases: GeneCards:  SP140L  Malacards:  SP140L

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISM	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0046872	metal ion binding	IEA	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0006357	regulation of transcription by RNA polymerase II	IEA	biological process

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 31037746

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R