Homo sapiens SLX4 structure-specific endonuclease subunit homolog (S. cerevisiae) (SLX4), mRNA.
| RefSeq Version | NM_032444.2, 63252862 |
| Length | 7304 bp |
| Structure | linear |
| Update Date | 10-APR-2011 |
| Organism | Homo sapiens (human) |
| Definition | Homo sapiens SLX4 structure-specific endonuclease subunit homolog (S. cerevisiae) (SLX4), mRNA. |
| Product | structure-specific endonuclease subunit SLX4 |
| Comment | Summary: This gene encodes a structure-specific endonuclease subunit. The encoded protein contains a central BTB domain and it forms a multiprotein complex with the ERCC4(XPF)-ERCC1, MUS81-EME1, and SLX1 endonucleases, and also associates with MSH2/MSH3 mismatch repair complex, telomere binding complex TERF2(TRF2)-TERF2IP(RAP1), the protein kinase PLK1 and the uncharacterized protein C20orf94. The multiprotein complex is required for repair of specific types of DNA lesions and is critical for cellular responses to replication fork failure. The encoded protein acts as a docking platform for the assembly of multiple structure-specific endonucleases. COMPLETENESS: complete on the 3' end. |
| RefSeq | NP_115820.2 |
| CDS | 628..6132 | Exon (1) | 1..25 | Exon (2) | 1..25 | Exon (3) | 26..1162 | Exon (4) | 1163..1387 | Exon (5) | 1388..1577 | Exon (6) | 1578..1790 | Exon (7) | 1791..1993 | Exon (8) | 1994..2310 | Exon (9) | 2311..2551 | Exon (10) | 2552..2640 | Exon (11) | 2641..2787 | Exon (12) | 2788..2954 | Exon (13) | 2955..5263 | Exon (14) | 5264..5366 | Exon (15) | 5367..5780 | Exon (16) | 5781..7293 |
| Translation | MKLSVNEAQLGFYLGSLSHLSACPGIDPRSSEDQPESLKTGQMMDESDEDFKELCASFFQ
RVKKHGIKEVSGERKTQKAASNGTQIRSKLKRTKQTATKTKTLQGPAEKKPPSGSQAPRT
KKQRVTKWQASEPAHSVNGEGGVLASAPDPPVLRETAQNTQTGNQQEPSPNLSREKTREN
VPNSDSQPPPSCLTTAVPSPSKPRTAQLVLQRMQQFKRADPERLRHASEECSLEAAREEN
VPKDPQEEMMAGNVYGLGPPAPESDAAVALTLQQEFARVGASAHDDSLEEKGLFFCQICQ
KNLSAMNVTRREQHVNRCLDEAEKTLRPSVPQIPECPICGKPFLTLKSRTSHLKQCAVKM
EVGPQLLLQAVRLQTAQPEGSSSPPMFSFSDHSRGLKRRGPTSKKEPRKRRKVDEAPSED
LLVAMALSRSEMEPGAAVPALRLESAFSERIRPEAENKSRKKKPPVSPPLLLVQDSETTG
RQIEDRVALLLSEEVELSSTPPLPASRILKEGWERAGQCPPPPERKQSFLWEGSALTGAW
AMEDFYTARLVPPLVPQRPAQGLMQEPVPPLVPPEHSELSERRSPALHGTPTAGCGSRGP
SPSASQREHQALQDLVDLAREGLSASPWPGSGGLAGSEGTAGLDVVPGGLPLTGFVVPSQ
DKHPDRGGRTLLSLGLLVADFGAMVNNPHLSDVQFQTDSGEVLYAHKFVLYARCPLLIQY
VNNEGFSAVEDGVLTQRVLLGDVSTEAARTFLHYLYTADTGLPPGLSSELSSLAHRFGVS
ELVHLCEQVPIATDSEGKPWEEKEAENCESRAENFQELLRSMWADEEEEAETLLKSKDHE
EDQENVNEAEMEEIYEFAATQRKLLQEERAAGAGEDADWLEGGSPVSGQLLAGVQVQKQW
DKVEEMEPLEPGRDEAATTWEKMGQCALPPPQGQHSGARGAEAPEQEAPEEALGHSSCSS
PSRDCQAERKEGSLPHSDDAGDYEQLFSSTQGEISEPSQITSEPEEQSGAVRERGLEVSH
RLAPWQASPPHPCRFLLGPPQGGSPRGSHHTSGSSLSTPRSRGGTSQVGSPTLLSPAVPS
KQKRDRSILTLSKEPGHQKGKERRSVLECRNKGVLMFPEKSPSIDLTQSNPDHSSSRSQK
SSSKLNEEDEVILLLDSDEELELEQTKMKSISSDPLEEKKALEISPRSCELFSIIDVDAD
QEPSQSPPRSEAVLQQEDEGALPENRGSLGRRGAPWLFCDRESSPSEASTTDTSWLVPAT
PLASRSRDCSSQTQISSLRSGLAVQAVTQHTPRASVGNREGNEVAQKFSVIRPQTPPPQT
PSSCLTPVSPGTSDGRRQGHRSPSRPHPGGHPHSSPLAPHPISGDRAHFSRRFLKHSPPG
PSFLNQTPAGEVVEVGDSDDEQEVASHQANRSPPLDSDPPIPIDDCCWHMEPLSPIPIDH
WNLERTGPLSTSSPSRRMNEAADSRDCRSPGLLDTTPIRGSCTTQRKLQEKSSGAGSLGN
SRPSFLNSALWDVWDGEEQRPPETPPPAQMPSAGGAQKPEGLETPKGANRKKNLPPKVPI
TPMPQYSIMETPVLKKELDRFGVRPLPKRQMVLKLKEIFQYTHQTLDSDSEDESQSSQPL
LQAPHCQTLASQTYKPSRAGVHAQQEATTGPGAHRPKGPAKTKGPRHQRKHHESITPPSR
SPTKEAPPGLNDDAQIPASQESVATSVDGSDSSLSSQSSSSCEFGAAFESAGEEEGEGEV
SASQAAVQAADTDEALRCYIRSKPALYQKVLLYQPFELRELQAELRQNGLRVSSRRLLDF
LDTHCITFTTAATRREKLQGRRRQPRGKKKVERN
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| Position | Chain | Variation | Link |
| complement(269) | - | g, c | dbSNP:57910835 |
| complement(333) | - | t, c | dbSNP:59311338 |
| complement(524) | - | t, c | dbSNP:73505426 |
| complement(582) | - | t, c | dbSNP:113023461 |
| complement(609) | - | t, c | dbSNP:113845637 |
| complement(717) | - | g, a | dbSNP:118089506 |
| complement(816) | - | t, g | dbSNP:28612736 |
| complement(885) | - | t, c | dbSNP:112205823 |
| complement(963) | - | t, c | dbSNP:79126454 |
| complement(1049) | - | c, a | dbSNP:77306735 |
| complement(1050) | - | c, a | dbSNP:111405249 |
| complement(1182) | - | g, a | dbSNP:74640850 |
| complement(1237) | - | g, a | dbSNP:79842542 |
| complement(1305) | - | g, a | dbSNP:28516461 |
| complement(1345) | - | t, c | dbSNP:114744903 |
| complement(1380) | - | t, c | dbSNP:8061528 |
| complement(1626) | - | g, a | dbSNP:7198338 |
| complement(1779) | - | t, c | dbSNP:112511042 |
| complement(1780) | - | t, g | dbSNP:115694169 |
| complement(1783) | - | t, c | dbSNP:113490934 |
| complement(1805) | - | t, c | dbSNP:112301713 |
| complement(1909..1910) | - | , g | dbSNP:35570194 |
| complement(1940) | - | c, a | dbSNP:74553110 |
| complement(1998) | - | c, a | dbSNP:74319927 |
| complement(2012) | - | t, c | dbSNP:112133511 |
| complement(2382) | - | g, a | dbSNP:114016359 |
| complement(2429) | - | g, a | dbSNP:59706816 |
| complement(2456) | - | t, c | dbSNP:78078811 |
| 2472 | + | a, c | dbSNP:1056084 |
| 2525 | + | a, g | dbSNP:1056085 |
| complement(2537) | - | g, a | dbSNP:117941828 |
| complement(2639) | - | g, a | dbSNP:77985244 |
| complement(2674) | - | t, c | dbSNP:115866745 |
| complement(2730) | - | g, c | dbSNP:73505420 |
| complement(2838) | - | g, a | dbSNP:113436106 |
| complement(2855) | - | g, a | dbSNP:1061002 |
| complement(2862) | - | g, a | dbSNP:75184268 |
| complement(2941..2942) | - | , g | dbSNP:34644639 |
| complement(3015) | - | t, c | dbSNP:113965715 |
| complement(3247) | - | t, c | dbSNP:113420526 |
| complement(3275) | - | t, c | dbSNP:112994550 |
| complement(3373) | - | c, a | dbSNP:79448721 |
| complement(3413) | - | g, a | dbSNP:117707719 |
| complement(3451) | - | g, c | dbSNP:114014006 |
| complement(3481) | - | t, c | dbSNP:59939128 |
| complement(3482) | - | g, a | dbSNP:78637028 |
| complement(3551) | - | g, a | dbSNP:114472821 |
| complement(3599..3600) | - | , c | dbSNP:34903148 |
| complement(3736) | - | g, a | dbSNP:58735123 |
| complement(3789) | - | t, c | dbSNP:76488917 |
| 3992 | + | c, t | dbSNP:714181 |
| complement(4065) | - | t, g | dbSNP:78541095 |
| complement(4127) | - | t, c | dbSNP:75685199 |
| complement(4215) | - | g, a | dbSNP:112016711 |
| complement(4269) | - | t, c | dbSNP:112748917 |
| complement(4289) | - | g, a | dbSNP:3827530 |
| complement(4389) | - | t, c | dbSNP:3810814 |
| complement(4410) | - | t, c | dbSNP:77699867 |
| complement(4439) | - | g, a | dbSNP:3810813 |
| complement(4495) | - | t, g | dbSNP:112596894 |
| complement(4590) | - | t, c | dbSNP:116781836 |
| complement(4668) | - | g, a | dbSNP:112022398 |
| complement(4695) | - | t, c | dbSNP:115491049 |
| complement(4726) | - | t, c | dbSNP:17136464 |
| complement(4742) | - | t, c | dbSNP:79174372 |
| complement(4953) | - | , g | dbSNP:35603561 |
| complement(4965) | - | g, a | dbSNP:77718962 |
| complement(5036) | - | g, a | dbSNP:72778139 |
| complement(5127) | - | g, a | dbSNP:3810812 |
| complement(5150) | - | g, a | dbSNP:112694849 |
| complement(5203) | - | g, a | dbSNP:111866205 |
| complement(5208) | - | t, c | dbSNP:78635099 |
| complement(5227) | - | t, c | dbSNP:78770603 |
| complement(5275) | - | g, a | dbSNP:77021998 |
| complement(5478) | - | t, g | dbSNP:76335221 |
| complement(5481..5482) | - | , g | dbSNP:36003440 |
| complement(5656) | - | g, a | dbSNP:7196345 |
| complement(5773) | - | t, a | dbSNP:75182789 |
| complement(5844) | - | c, a | dbSNP:61031231 |
| complement(5866) | - | t, c | dbSNP:117940766 |
| complement(6128) | - | t, c | dbSNP:111738042 |
| complement(6140) | - | t, c | dbSNP:3751839 |
| complement(6172) | - | , g | dbSNP:3833838 |
| complement(6245) | - | g, a | dbSNP:76661336 |
| complement(6291) | - | t, c | dbSNP:117801349 |
| complement(6384) | - | g, a | dbSNP:73505410 |
| complement(6428) | - | g, a | dbSNP:77176197 |
| complement(6501) | - | g, c | dbSNP:78541056 |
| complement(6666) | - | t, c | dbSNP:115773986 |
| complement(6706) | - | t, c | dbSNP:114600718 |
| complement(6787) | - | t, c | dbSNP:116003727 |
| complement(6853) | - | g, a | dbSNP:75146816 |
| complement(6899) | - | t, c | dbSNP:113274749 |
| complement(6939) | - | t, c | dbSNP:115690937 |
| complement(7116) | - | g, a | dbSNP:57699393 |
| complement(7136) | - | t, c | dbSNP:75773027 |
| complement(7154) | - | t, c | dbSNP:78346491 |
| complement(7173) | - | t, c | dbSNP:117958592 |
| complement(7224) | - | g, a | dbSNP:71388524 |
| complement(7227) | - | t, c | dbSNP:116498263 |
| Gene Symbol | SLX4 |
| Gene Synonym | BTBD12; FANCP; KIAA1784; KIAA1987; MUS312 |
| Chromosome | 16 |
| Locus Map | 16p13.3 |
| All Transcripts | NM_032444 |
| Title | SLX4, a coordinator of structure-specific endonucleases, is mutated in a new Fanconi anemia subtype . |
| Author | Stoepker,C., Hain,K., Schuster,B., Hilhorst-Hofstee,Y., Rooimans,M.A., Steltenpool,J., Oostra,A.B., Eirich,K., Korthof,E.T., Nieuwint,A.W., Jaspers,N.G., Bettecken,T., Joenje,H., Schindler,D., Rouse,J. and de Winter,J.P. |
| Journal | Nat. Genet. 43 (2), 138-141 (2011) |
| Title | Mutations of the SLX4 gene in Fanconi anemia . |
| Author | Kim,Y., Lach,F.P., Desetty,R., Hanenberg,H., Auerbach,A.D. and Smogorzewska,A. |
| Journal | Nat. Genet. 43 (2), 142-146 (2011) |
| Title | Human SLX4 is a Holliday junction resolvase subunit that binds multiple DNA repair/recombination endonucleases . |
| Author | Fekairi,S., Scaglione,S., Chahwan,C., Taylor,E.R., Tissier,A., Coulon,S., Dong,M.Q., Ruse,C., Yates,J.R. III, Russell,P., Fuchs,R.P., McGowan,C.H. and Gaillard,P.H. |
| Journal | Cell 138 (1), 78-89 (2009) |
| Title | Mammalian BTBD12/SLX4 assembles a Holliday junction resolvase and is required for DNA repair . |
| Author | Svendsen,J.M., Smogorzewska,A., Sowa,M.E., O'Connell,B.C., Gygi,S.P., Elledge,S.J. and Harper,J.W. |
| Journal | Cell 138 (1), 63-77 (2009) |
| Title | Drosophila MUS312 and the vertebrate ortholog BTBD12 interact with . |
| Author | Andersen,S.L., Bergstralh,D.T., Kohl,K.P., LaRocque,J.R., Moore,C.B. and Sekelsky,J. |
| Journal | Mol. Cell 35 (1), 128-135 (2009) |
| Title | Coordination of structure-specific nucleases by human SLX4/BTBD12 is required for DNA repair . |
| Author | Munoz,I.M., Hain,K., Declais,A.C., Gardiner,M., Toh,G.W., Sanchez-Pulido,L., Heuckmann,J.M., Toth,R., Macartney,T., Eppink,B., Kanaar,R., Ponting,C.P., Lilley,D.M. and Rouse,J. |
| Journal | Mol. Cell 35 (1), 116-127 (2009) |
| Title | The sequence and analysis of duplication-rich human chromosome 16 . |
| Author | Martin,J., Han,C., Gordon,L.A., Terry,A., Prabhakar,S., She,X., Xie,G., Hellsten,U., Chan,Y.M., Altherr,M., Couronne,O., Aerts,A., Bajorek,E., Black,S., Blumer,H., Branscomb,E., Brown,N.C., Bruno,W.J., Buckingham,J.M., Callen,D.F., Campbell,C.S., Campbell,M.L., Campbell,E.W., Caoile,C., Challacombe,J.F., Chasteen,L.A., Chertkov,O., Chi,H.C., Christensen,M., Clark,L.M., Cohn,J.D., Denys,M., Detter,J.C., Dickson,M., Dimitrijevic-Bussod,M., Escobar,J., Fawcett,J.J., Flowers,D., Fotopulos,D., Glavina,T., Gomez,M., Gonzales,E., Goodstein,D., Goodwin,L.A., Grady,D.L., Grigoriev,I., Groza,M., Hammon,N., Hawkins,T., Haydu,L., Hildebrand,C.E., Huang,W., Israni,S., Jett,J., Jewett,P.B., Kadner,K., Kimball,H., Kobayashi,A., Krawczyk,M.C., Leyba,T., Longmire,J.L., Lopez,F., Lou,Y., Lowry,S., Ludeman,T., Manohar,C.F., Mark,G.A., McMurray,K.L., Meincke,L.J., Morgan,J., Moyzis,R.K., Mundt,M.O., Munk,A.C., Nandkeshwar,R.D., Pitluck,S., Pollard,M., Predki,P., Parson-Quintana,B., Ramirez,L., Rash,S., Retterer,J., Ricke,D.O., Robinson,D.L., Rodriguez,A., Salamov,A., Saunders,E.H., Scott,D., Shough,T., Stallings,R.L., Stalvey,M., Sutherland,R.D., Tapia,R., Tesmer,J.G., Thayer,N., Thompson,L.S., Tice,H., Torney,D.C., Tran-Gyamfi,M., Tsai,M., Ulanovsky,L.E., Ustaszewska,A., Vo,N., White,P.S., Williams,A.L., Wills,P.L., Wu,J.R., Wu,K., Yang,J., Dejong,P., Bruce,D., Doggett,N.A., Deaven,L., Schmutz,J., Grimwood,J., Richardson,P., Rokhsar,D.S., Eichler,E.E., Gilna,P., Lucas,S.M., Myers,R.M., Rubin,E.M. and Pennacchio,L.A. |
| Journal | Nature 432 (7020), 988-994 (2004) |
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