• Gene id: 84250

Gene Summary

• Gene Symbol: SLF1   Gene   UCSC   Ensembl
• Aliases: ANKRD32, BRCTD1, BRCTx
• Gene name: SMC5-SMC6 complex localization factor 1
• Alternate names: SMC5-SMC6 complex localization factor protein 1, BRCT domain containing 1, BRCT domain-containing protein 1, ankyrin repeat domain 32, ankyrin repeat domain-containing protein 32, smc5/6 localization factor 1,
• Gene location: 5q15 (94613475: 94714917)     Exons: 28     NC_000005.10
• OMIM: 605307

Protein Summary

• Protein general information: Q9BQI6  
  • Name: SMC5 SMC6 complex localization factor protein 1 (Ankyrin repeat domain containing protein 32) (BRCT domain containing protein 1) (Smc5/6 localization factor 1)
  • Length: 1058  
  • Mass: 121050
• Sequence:

  MEDGTPKHIIQMTGFKMEEKEALVKLLLKLDCTFIKSEKYKNCTHLIAERLCKSEKFLAACAAGKWILTKDYIIH
  SAKSGRWLDETTYEWGYKIEKDSRYSPQMQSAPKRWREELKRTGAPGAFHRWKVVLLVRTDKRSDSLIRVLEAGK
  ANVILPKSSPSGITHVIASNARIKAEKEKDNFKAPFYPIQYLGDFLLEKEIQNDEDSQTNSVWTEHSNEETNKDF
  RKDAGFLEMKGALRETMYRTQKEMQNHEDVNVGSILIQHHKKEKFSGSSKDLKFVKMRNTFGSHTYENQKEIKKK
  DEDIQRSYTLRRKRKKGKESNCKKGVEHEKIKSTLRRHIYNRDQKEMKNSIFAEYAKESKAMAIKTDVDVVEIKN
  TLRKHIYRAQAVRYNCIRIDKQPVYNVEVKNAEFPRGVLNLIESLIEGHFFKEAIEELSTLQAHYIPPVCVLHAL
  LENVLQDNIDTFSGRYFHILSALLHLHPPWKSPAMSRYYLELFQCPTCMKGAWSLVEVLIRSCLFNESFCHQISE
  NIGSKVLHLTLLKFFFNLIESEVQHLSQKLYDWSDSQNLKITGKAMLLEIFWSGSETSGLLTKPVNMLLEWTIYS
  HKEKFKSNDVFKHELAYLLAGILGAAIDYWIFLGLKMGRNVMRHMSDDLGSYVSLSCDDFSSQELEIFICSFSSS
  WLQMFVAEAVFKKLCLQSSGSVSSEPLSLQKMVYSYLPALGKTGVLGSGKIQVSKKIGQRPCFDSQRTLLMLNGT
  KQKQVEGLPELLDLNLAKCSSSLKKLKKKSEGELSCSKENCPSVVKKMNFHKTNLKGETALHRACINNQVEKLIL
  LLSLPGIDINVKDNAGWTPLHEACNYGNTVCVQEILQRCPEVDLLTQVDGVTPLHDALSNGHVEIGKLLLQHGGP
  VLLQQRNAKGELPLDYVVSPQIKEELFAITKIEDTVENFHAQAEKHFHYQQLEFGSFLLSRMLLNFCSIFDLSSE
  FILASKGLTHLNELLMACKSHKETTSVHTDWLLDLYAGNIKTLQKLPHILKELPENLKVCPGVHTEALMITLEMM
  CRSVMEFS

• Structural information:
  • Protein Domains: (12..7-)
    (/note="BRCT-1)
    (119..19-)
    (/note="BRCT-2")
  • Interpro: IPR002110  IPR020683  IPR036770  IPR001357  IPR036420   IPR042479  
  • Prosite: PS50297 PS50088
  • STRING: ENSP00000265140
• Other Databases: GeneCards:  SLF1  Malacards:  SLF1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:1990166	protein localization to site of double-strand break	IDA	biological process
GO:0035861	site of double-strand break	IDA	cellular component
GO:0006974	cellular response to DNA damage stimulus	IDA	biological process
GO:2000781	positive regulation of double-strand break repair	IDA	biological process
GO:0031334	positive regulation of protein-containing complex assembly	IMP	biological process
GO:0031625	ubiquitin protein ligase binding	IPI	molecular function
GO:0000786	nucleosome	ISS	cellular component
GO:0005813	centrosome	ISS	cellular component
GO:0034184	positive regulation of maintenance of mitotic sister chromatid cohesion	IMP	biological process
GO:0044877	protein-containing complex binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005737	cytoplasm	ISS	cellular component
GO:0005634	nucleus	ISS	cellular component
GO:0042405	nuclear inclusion body	ISS	cellular component
GO:2000781	positive regulation of double-strand break repair	IEA	biological process
GO:0006281	DNA repair	IEA	biological process
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0006974	cellular response to DNA damage stimulus	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0031625	ubiquitin protein ligase binding	IEA	molecular function
GO:0005813	centrosome	IEA	cellular component
GO:0000786	nucleosome	IEA	cellular component
GO:0042405	nuclear inclusion body	IEA	cellular component
GO:0006974	cellular response to DNA damage stimulus	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005815	microtubule organizing center	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component

Diseases

Associated diseases	References
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)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq