• Gene id: 84464

Gene Summary

• Gene Symbol: SLX4   Gene   UCSC   Ensembl
• Aliases: BTBD12, FANCP, MUS312
• Gene name: SLX4 structure-specific endonuclease subunit
• Alternate names: structure-specific endonuclease subunit SLX4, BTB/POZ domain-containing protein 12,
• Gene location: 16p13.3 (51385290: 51389396)     Exons: 4     NC_000003.12
• Gene summary(Entrez): This gene encodes a protein that functions as an assembly component of multiple structure-specific endonucleases. These endonuclease complexes are required for repair of specific types of DNA lesions and critical for cellular responses to replication fork
• OMIM: 613278

Protein Summary

• Protein general information: Q8IY92  
  • Name: Structure specific endonuclease subunit SLX4 (BTB/POZ domain containing protein 12)
  • Length: 1834  
  • Mass: 200012
• Sequence:

  MKLSVNEAQLGFYLGSLSHLSACPGIDPRSSEDQPESLKTGQMMDESDEDFKELCASFFQRVKKHGIKEVSGERK
  TQKAASNGTQIRSKLKRTKQTATKTKTLQGPAEKKPPSGSQAPRTKKQRVTKWQASEPAHSVNGEGGVLASAPDP
  PVLRETAQNTQTGNQQEPSPNLSREKTRENVPNSDSQPPPSCLTTAVPSPSKPRTAQLVLQRMQQFKRADPERLR
  HASEECSLEAAREENVPKDPQEEMMAGNVYGLGPPAPESDAAVALTLQQEFARVGASAHDDSLEEKGLFFCQICQ
  KNLSAMNVTRREQHVNRCLDEAEKTLRPSVPQIPECPICGKPFLTLKSRTSHLKQCAVKMEVGPQLLLQAVRLQT
  AQPEGSSSPPMFSFSDHSRGLKRRGPTSKKEPRKRRKVDEAPSEDLLVAMALSRSEMEPGAAVPALRLESAFSER
  IRPEAENKSRKKKPPVSPPLLLVQDSETTGRQIEDRVALLLSEEVELSSTPPLPASRILKEGWERAGQCPPPPER
  KQSFLWEGSALTGAWAMEDFYTARLVPPLVPQRPAQGLMQEPVPPLVPPEHSELSERRSPALHGTPTAGCGSRGP
  SPSASQREHQALQDLVDLAREGLSASPWPGSGGLAGSEGTAGLDVVPGGLPLTGFVVPSQDKHPDRGGRTLLSLG
  LLVADFGAMVNNPHLSDVQFQTDSGEVLYAHKFVLYARCPLLIQYVNNEGFSAVEDGVLTQRVLLGDVSTEAART
  FLHYLYTADTGLPPGLSSELSSLAHRFGVSELVHLCEQVPIATDSEGKPWEEKEAENCESRAENFQELLRSMWAD
  EEEEAETLLKSKDHEEDQENVNEAEMEEIYEFAATQRKLLQEERAAGAGEDADWLEGGSPVSGQLLAGVQVQKQW
  DKVEEMEPLEPGRDEAATTWEKMGQCALPPPQGQHSGARGAEAPEQEAPEEALGHSSCSSPSRDCQAERKEGSLP
  HSDDAGDYEQLFSSTQGEISEPSQITSEPEEQSGAVRERGLEVSHRLAPWQASPPHPCRFLLGPPQGGSPRGSHH
  TSGSSLSTPRSRGGTSQVGSPTLLSPAVPSKQKRDRSILTLSKEPGHQKGKERRSVLECRNKGVLMFPEKSPSID
  LTQSNPDHSSSRSQKSSSKLNEEDEVILLLDSDEELELEQTKMKSISSDPLEEKKALEISPRSCELFSIIDVDAD
  QEPSQSPPRSEAVLQQEDEGALPENRGSLGRRGAPWLFCDRESSPSEASTTDTSWLVPATPLASRSRDCSSQTQI
  SSLRSGLAVQAVTQHTPRASVGNREGNEVAQKFSVIRPQTPPPQTPSSCLTPVSPGTSDGRRQGHRSPSRPHPGG
  HPHSSPLAPHPISGDRAHFSRRFLKHSPPGPSFLNQTPAGEVVEVGDSDDEQEVASHQANRSPPLDSDPPIPIDD
  CCWHMEPLSPIPIDHWNLERTGPLSTSSPSRRMNEAADSRDCRSPGLLDTTPIRGSCTTQRKLQEKSSGAGSLGN
  SRPSFLNSALWDVWDGEEQRPPETPPPAQMPSAGGAQKPEGLETPKGANRKKNLPPKVPITPMPQYSIMETPVLK
  KELDRFGVRPLPKRQMVLKLKEIFQYTHQTLDSDSEDESQSSQPLLQAPHCQTLASQTYKPSRAGVHAQQEATTG
  PGAHRPKGPAKTKGPRHQRKHHESITPPSRSPTKEAPPGLNDDAQIPASQESVATSVDGSDSSLSSQSSSSCEFG
  AAFESAGEEEGEGEVSASQAAVQAADTDEALRCYIRSKPALYQKVLLYQPFELRELQAELRQNGLRVSSRRLLDF
  LDTHCITFTTAATRREKLQGRRRQPRGKKKVERN

• Structural information:
  • Protein Domains: (691..76-)
    (/note="BTB-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00037"-)
  • Interpro: IPR000210  IPR011333  IPR018574  
  • Prosite: PS50097 PS51908
  • PDB: 4M7C 4UYI 4ZOU
  • PDBsum: 4M7C 4UYI 4ZOU
  • STRING: ENSP00000294008
• Other Databases: GeneCards:  SLX4  Malacards:  SLX4

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0048257	3'-flap endonuclease activity	IBA	contributes to
GO:0036297	interstrand cross-link repair	IBA	biological process
GO:0008821	crossover junction endodeoxyribonuclease activity	IBA	contributes to
GO:0033557	Slx1-Slx4 complex	IBA	cellular component
GO:0017108	5'-flap endonuclease activity	IBA	contributes to
GO:0000712	resolution of meiotic recombination intermediates	IBA	biological process
GO:0000706	meiotic DNA double-strand break processing	IBA	biological process
GO:0048476	Holliday junction resolvase complex	IDA	colocalizes with
GO:0048476	Holliday junction resolvase complex	IDA	colocalizes with
GO:0048476	Holliday junction resolvase complex	IDA	colocalizes with
GO:0048257	3'-flap endonuclease activity	IDA	contributes to
GO:0048257	3'-flap endonuclease activity	IDA	contributes to
GO:0008821	crossover junction endodeoxyribonuclease activity	IDA	contributes to
GO:0008821	crossover junction endodeoxyribonuclease activity	IDA	contributes to
GO:0008821	crossover junction endodeoxyribonuclease activity	IDA	contributes to
GO:0070522	ERCC4-ERCC1 complex	IDA	colocalizes with
GO:0070522	ERCC4-ERCC1 complex	IDA	colocalizes with
GO:0070522	ERCC4-ERCC1 complex	IDA	colocalizes with
GO:0033557	Slx1-Slx4 complex	IDA	cellular component
GO:0033557	Slx1-Slx4 complex	IDA	cellular component
GO:0033557	Slx1-Slx4 complex	IDA	cellular component
GO:0017108	5'-flap endonuclease activity	IDA	contributes to
GO:0017108	5'-flap endonuclease activity	IDA	contributes to
GO:0017108	5'-flap endonuclease activity	IDA	contributes to
GO:0008047	enzyme activator activity	IDA	molecular function
GO:0000790	nuclear chromatin	IDA	colocalizes with
GO:0000784	nuclear chromosome, telomeric region	IDA	colocalizes with
GO:0010792	DNA double-strand break processing involved in repair via single-strand annealing	IMP	biological process
GO:0006289	nucleotide-excision repair	IMP	biological process
GO:0006281	DNA repair	IMP	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:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0000724	double-strand break repair via homologous recombination	IMP	biological process
GO:0000724	double-strand break repair via homologous recombination	IMP	biological process
GO:0006260	DNA replication	IEA	biological process
GO:0006281	DNA repair	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0017108	5'-flap endonuclease activity	IEA	molecular function
GO:0033557	Slx1-Slx4 complex	IEA	cellular component
GO:0006281	DNA repair	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0006310	DNA recombination	IEA	biological process
GO:0006974	cellular response to DNA damage stimulus	IEA	biological process
GO:0072429	response to intra-S DNA damage checkpoint signaling	IMP	biological process
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0036297	interstrand cross-link repair	TAS	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: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:0090656	t-circle formation	IEA	biological process
GO:1904431	positive regulation of t-circle formation	IEA	biological process
GO:0090656	t-circle formation	ISS	biological process
GO:1904431	positive regulation of t-circle formation	ISS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0000781	chromosome, telomeric region	IDA	cellular component
GO:0090656	t-circle formation	IMP	biological process
GO:1904357	negative regulation of telomere maintenance via telomere lengthening	IMP	biological process
GO:0061820	telomeric D-loop disassembly	IMP	biological process
GO:0033557	Slx1-Slx4 complex	TAS	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0030054	cell junction	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0043085	positive regulation of catalytic activity	IEA	biological process

KEGG pathways

Pathway id	Pathway name
hsa03460	Fanconi anemia pathway

Diseases

Associated diseases	References
Fanconi anemia	KEGG:H00238
Fanconi anemia	KEGG:H00238
Cryptorchidism	MIK: 28606200
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)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq