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TONSL_DANRE
ID   TONSL_DANRE             Reviewed;        1427 AA.
AC   A9JR78; Q569P2;
DT   08-APR-2008, integrated into UniProtKB/Swiss-Prot.
DT   05-FEB-2008, sequence version 1.
DT   03-AUG-2022, entry version 84.
DE   RecName: Full=Tonsoku-like protein {ECO:0000305};
DE   AltName: Full=NF-kappa-B inhibitor-like protein 2;
DE   AltName: Full=Nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor-like 2;
GN   Name=tonsl; Synonyms=nfkbil2; ORFNames=im:7145273, zgc:171416;
OS   Danio rerio (Zebrafish) (Brachydanio rerio).
OC   Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
OC   Actinopterygii; Neopterygii; Teleostei; Ostariophysi; Cypriniformes;
OC   Danionidae; Danioninae; Danio.
OX   NCBI_TaxID=7955;
RN   [1]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC   STRAIN=AB; TISSUE=Embryo;
RG   NIH - Zebrafish Gene Collection (ZGC) project;
RL   Submitted (DEC-2007) to the EMBL/GenBank/DDBJ databases.
RN   [2]
RP   DISRUPTION PHENOTYPE.
RX   PubMed=30773277; DOI=10.1016/j.ajhg.2019.01.007;
RG   University of Washington Center for Mendelian Genomics;
RG   Undiagnosed Diseases Network;
RA   Burrage L.C., Reynolds J.J., Baratang N.V., Phillips J.B., Wegner J.,
RA   McFarquhar A., Higgs M.R., Christiansen A.E., Lanza D.G., Seavitt J.R.,
RA   Jain M., Li X., Parry D.A., Raman V., Chitayat D., Chinn I.K.,
RA   Bertuch A.A., Karaviti L., Schlesinger A.E., Earl D., Bamshad M.,
RA   Savarirayan R., Doddapaneni H., Muzny D., Jhangiani S.N., Eng C.M.,
RA   Gibbs R.A., Bi W., Emrick L., Rosenfeld J.A., Postlethwait J.,
RA   Westerfield M., Dickinson M.E., Beaudet A.L., Ranza E., Huber C.,
RA   Cormier-Daire V., Shen W., Mao R., Heaney J.D., Orange J.S., Bertola D.,
RA   Yamamoto G.L., Baratela W.A.R., Butler M.G., Ali A., Adeli M., Cohn D.H.,
RA   Krakow D., Jackson A.P., Lees M., Offiah A.C., Carlston C.M., Carey J.C.,
RA   Stewart G.S., Bacino C.A., Campeau P.M., Lee B.;
RT   "Bi-allelic variants in TONSL cause sponastrime dysplasia and a spectrum of
RT   skeletal dysplasia phenotypes.";
RL   Am. J. Hum. Genet. 104:422-438(2019).
CC   -!- FUNCTION: Component of the MMS22L-TONSL complex, a complex that
CC       promotes homologous recombination-mediated repair of double-strand
CC       breaks (DSBs) at stalled or collapsed replication forks. The MMS22L-
CC       TONSL complex is required to maintain genome integrity during DNA
CC       replication. It mediates the assembly of RAD51 filaments on single-
CC       stranded DNA (ssDNA): the MMS22L-TONSL complex is recruited to DSBs
CC       following histone replacement by histone chaperones and eviction of the
CC       replication protein A complex (RPA/RP-A) from DSBs. Following
CC       recruitment to DSBs, the TONSL-MMS22L complex promotes recruitment of
CC       RAD51 filaments and subsequent homologous recombination. Within the
CC       complex, TONSL acts as histone reader, which recognizes and binds newly
CC       synthesized histones following their replacement by histone chaperones.
CC       {ECO:0000250|UniProtKB:Q96HA7}.
CC   -!- SUBUNIT: Component of the MMS22L-TONSL complex. Binds histones, with a
CC       strong preference for histone H3.1 (histones H3.1 and H3-4/H3.1t).
CC       {ECO:0000250|UniProtKB:Q96HA7}.
CC   -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000250|UniProtKB:Q96HA7}.
CC       Chromosome {ECO:0000250|UniProtKB:Q96HA7}. Cytoplasm
CC       {ECO:0000250|UniProtKB:Q96HA7}. Note=Mainly nuclear. Localizes to DNA
CC       damage sites, accumulates at stressed replication forks. Recruited to
CC       stalled or collapsed replication forks following histone replacement by
CC       histone chaperones: TONSL acts as histone reader that recognizes and
CC       binds newly synthesized histones. {ECO:0000250|UniProtKB:Q96HA7}.
CC   -!- DISRUPTION PHENOTYPE: Tonsl deficiency causes growth deficits,
CC       vertebral abnormalities, reduced neutrophil numbers, and death at early
CC       stages of larvae development. {ECO:0000269|PubMed:30773277}.
CC   -!- SIMILARITY: Belongs to the Tonsoku family. {ECO:0000305}.
CC   -!- SEQUENCE CAUTION:
CC       Sequence=AAH92364.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};
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DR   EMBL; BC092364; AAH92364.1; ALT_INIT; mRNA.
DR   EMBL; BC155547; AAI55548.1; -; mRNA.
DR   RefSeq; NP_001104618.1; NM_001111148.1.
DR   AlphaFoldDB; A9JR78; -.
DR   SMR; A9JR78; -.
DR   STRING; 7955.ENSDARP00000096098; -.
DR   PaxDb; A9JR78; -.
DR   PeptideAtlas; A9JR78; -.
DR   GeneID; 492655; -.
DR   KEGG; dre:492655; -.
DR   CTD; 4796; -.
DR   ZFIN; ZDB-GENE-041111-230; tonsl.
DR   eggNOG; KOG0504; Eukaryota.
DR   eggNOG; KOG4308; Eukaryota.
DR   InParanoid; A9JR78; -.
DR   OrthoDB; 56880at2759; -.
DR   PhylomeDB; A9JR78; -.
DR   PRO; PR:A9JR78; -.
DR   Proteomes; UP000000437; Genome assembly.
DR   Proteomes; UP000814640; Unplaced.
DR   GO; GO:0005737; C:cytoplasm; IEA:UniProtKB-SubCell.
DR   GO; GO:0043596; C:nuclear replication fork; ISS:UniProtKB.
DR   GO; GO:0035861; C:site of double-strand break; ISS:UniProtKB.
DR   GO; GO:0042393; F:histone binding; ISS:UniProtKB.
DR   GO; GO:0140566; F:histone reader activity; ISS:UniProtKB.
DR   GO; GO:0000724; P:double-strand break repair via homologous recombination; ISS:UniProtKB.
DR   GO; GO:0031297; P:replication fork processing; ISS:UniProtKB.
DR   Gene3D; 1.25.40.10; -; 2.
DR   Gene3D; 1.25.40.20; -; 1.
DR   Gene3D; 3.80.10.10; -; 1.
DR   InterPro; IPR002110; Ankyrin_rpt.
DR   InterPro; IPR036770; Ankyrin_rpt-contain_sf.
DR   InterPro; IPR001611; Leu-rich_rpt.
DR   InterPro; IPR006553; Leu-rich_rpt_Cys-con_subtyp.
DR   InterPro; IPR032675; LRR_dom_sf.
DR   InterPro; IPR011990; TPR-like_helical_dom_sf.
DR   InterPro; IPR019734; TPR_repeat.
DR   Pfam; PF12796; Ank_2; 1.
DR   Pfam; PF13516; LRR_6; 2.
DR   Pfam; PF13176; TPR_7; 2.
DR   Pfam; PF13181; TPR_8; 1.
DR   SMART; SM00248; ANK; 3.
DR   SMART; SM00367; LRR_CC; 3.
DR   SMART; SM00028; TPR; 8.
DR   SUPFAM; SSF48403; SSF48403; 1.
DR   SUPFAM; SSF48452; SSF48452; 3.
DR   PROSITE; PS50297; ANK_REP_REGION; 1.
DR   PROSITE; PS50088; ANK_REPEAT; 3.
DR   PROSITE; PS50005; TPR; 7.
DR   PROSITE; PS50293; TPR_REGION; 3.
PE   2: Evidence at transcript level;
KW   ANK repeat; Chromatin regulator; Chromosome; Cytoplasm; DNA damage;
KW   DNA repair; Leucine-rich repeat; Nucleus; Reference proteome; Repeat;
KW   TPR repeat.
FT   CHAIN           1..1427
FT                   /note="Tonsoku-like protein"
FT                   /id="PRO_0000326636"
FT   REPEAT          27..60
FT                   /note="TPR 1"
FT   REPEAT          67..100
FT                   /note="TPR 2"
FT   REPEAT          107..147
FT                   /note="TPR 3"
FT   REPEAT          162..195
FT                   /note="TPR 4"
FT   REPEAT          202..235
FT                   /note="TPR 5"
FT   REPEAT          242..275
FT                   /note="TPR 6"
FT   REPEAT          311..344
FT                   /note="TPR 7"
FT   REPEAT          352..385
FT                   /note="TPR 8"
FT   REPEAT          522..551
FT                   /note="ANK 1"
FT   REPEAT          555..584
FT                   /note="ANK 2"
FT   REPEAT          591..620
FT                   /note="ANK 3"
FT   REPEAT          1113..1137
FT                   /note="LRR 1"
FT   REPEAT          1141..1168
FT                   /note="LRR 2"
FT   REPEAT          1174..1197
FT                   /note="LRR 3"
FT   REPEAT          1234..1258
FT                   /note="LRR 4"
FT   REPEAT          1293..1316
FT                   /note="LRR 5"
FT   REPEAT          1321..1346
FT                   /note="LRR 6"
FT   REPEAT          1377..1400
FT                   /note="LRR 7"
FT   REGION          1..21
FT                   /note="Disordered"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   REGION          465..502
FT                   /note="Disordered"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   REGION          692..801
FT                   /note="Disordered"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   REGION          865..922
FT                   /note="Disordered"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   REGION          941..961
FT                   /note="Disordered"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   COMPBIAS        467..501
FT                   /note="Acidic residues"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   COMPBIAS        774..801
FT                   /note="Polar residues"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   COMPBIAS        877..919
FT                   /note="Polar residues"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   CONFLICT        1068
FT                   /note="E -> Q (in Ref. 1; AAH92364)"
FT                   /evidence="ECO:0000305"
FT   CONFLICT        1305
FT                   /note="G -> E (in Ref. 1; AAH92364)"
FT                   /evidence="ECO:0000305"
FT   CONFLICT        1348
FT                   /note="V -> M (in Ref. 1; AAH92364)"
FT                   /evidence="ECO:0000305"
SQ   SEQUENCE   1427 AA;  158305 MW;  BD3B7E54903CCA11 CRC64;
     MTSTKEIKQL QKAKSKAQSS NNLKEEASLC NQLGEVYAKT GDYQAAIEEH RQELALSEIL
     HDVIGSAVAN RKIGECYAEL GNIEAALKHQ RLHLNLARSV HDAAEEQRAL ATIGRTYLFL
     FDSDQSANSL KHAEDAFKRS LAIVDERLEG TVSPREISEM KARLLLNLGC VYDGMKEPQR
     CSDLIRQSIY IAEKNNLLED LYRANFNLGS IHFRNGQHSR AMRCFEQSKE CARKMKDKFS
     ESECFHSIGK ILLHLGDFSA ARRSLKKAFC LGSQQPSDRE AVKKDFRHAI RGCQLEQTAA
     EVTQKFSHEA LDLSEQLGDL YCKVGCYSKA LEAYQTQLAC AEALAKPARE LAVIHVSLAA
     TYTDLRQHHR AVEHYRQELQ LRKGNPKEEC ETWLNMAVCQ EEMCQSMETL DHCFTSALNC
     AEKSGLNKLQ RRVLRVWLQA QRRCGSSQCD DTEARLMELC ERDGLSLDQS EDEDEEDEVD
     NSEPLEDSDI QYSESDDEDL EGYDKMVTGR RKTQRWNRRN EKGETVLHRA CIEGNLKQVQ
     YLIEQGHPVN VRDYCGWTPL HESCNYGHQE IVAFLLDRGA NVNDPGGREC GGITPLHDTL
     SCGHFSVARL LVLRGASVTV RNSKGHTPLD TLRQWFKTYS GQLDPETKQE CLETEKLIKR
     ALSGDVSVVC AAPRQQKELQ DSQLFDAEYS EPLLRESPPS PPPITRPAAT VPTSKDSAPK
     HRSTSASTRR PRGMEVDVLY GDDSSSSDNP DSDCSLSPLR PVRSRPRSPP AQSPQEVPSS
     QELPSVYGIK ETTVPPQSES GRLEYQKAMQ NLGSAKSRLF SQSLSDPAFT STPAVSANSR
     AALVPEDQYL ADDWLEDDLI DMQPKKKRRV SEHNATRETT SRSQNNSSTI AEVPPRVQSC
     SSRGSLSLKK GSNKPRQVKM NQLPGMVMLG RREVSRSQSP IMTQESDHIQ EPAPPSHQAM
     PPASFQNRAA HVPAPIRMRV KVQDNVFLIP VPHSEADSCT VAWLCDQAAQ RYYQMCGLLP
     RLSLQKEGAL LLPTDPLLAV LHTNEEVLAE VCSWDLPPLP ERYRKACESL GVEENRRVSR
     VCEVQDSSSC VSVCGLSLSP ASLNPLLRAL KLQASLTELR ISANRLNDEL LPEMMAAAAT
     MPRLRVLDIS ANQITGEGLR KASDAFETRS QAAFPCLEEL NLSMNPLGDG WTQALASLLS
     SCPLLSSLSL QACGLSARFL QQHRLLLANA MASTGNMRSV CLSHNALGST GFELVLKTLP
     MHCLTHLELS AVCRGPSDQP SMEILTKLLA QGDCPLTHLN LSGNGLTDHS VLLLARCLPV
     CPSLVSLDLS ANPLVTSTGL HSLLNGLVEA RRPLGHLNLQ GCQVSGPLAE DCLDSLSDHI
     RDLRLCSQSL NKLDQDALQQ SWKRRTEAVH IFSRNSKCML SISSPSH
 
 
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