NIPLB_DANRE
ID NIPLB_DANRE Reviewed; 2876 AA.
AC F1QBY1; A1L2B2; F5HSE2;
DT 03-OCT-2012, integrated into UniProtKB/Swiss-Prot.
DT 03-MAY-2011, sequence version 1.
DT 03-AUG-2022, entry version 62.
DE RecName: Full=Nipped-B-like protein B;
GN Name=nipblb;
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 [MRNA] (ISOFORM 1), FUNCTION, AND DEVELOPMENTAL STAGE.
RX PubMed=22039349; DOI=10.1371/journal.pbio.1001181;
RA Muto A., Calof A.L., Lander A.D., Schilling T.F.;
RT "Multifactorial origins of heart and gut defects in nipbl-deficient
RT zebrafish, a model of Cornelia de Lange Syndrome.";
RL PLoS Biol. 9:E1001181-E1001181(2011).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RC STRAIN=Tuebingen;
RX PubMed=23594743; DOI=10.1038/nature12111;
RA Howe K., Clark M.D., Torroja C.F., Torrance J., Berthelot C., Muffato M.,
RA Collins J.E., Humphray S., McLaren K., Matthews L., McLaren S., Sealy I.,
RA Caccamo M., Churcher C., Scott C., Barrett J.C., Koch R., Rauch G.J.,
RA White S., Chow W., Kilian B., Quintais L.T., Guerra-Assuncao J.A., Zhou Y.,
RA Gu Y., Yen J., Vogel J.H., Eyre T., Redmond S., Banerjee R., Chi J., Fu B.,
RA Langley E., Maguire S.F., Laird G.K., Lloyd D., Kenyon E., Donaldson S.,
RA Sehra H., Almeida-King J., Loveland J., Trevanion S., Jones M., Quail M.,
RA Willey D., Hunt A., Burton J., Sims S., McLay K., Plumb B., Davis J.,
RA Clee C., Oliver K., Clark R., Riddle C., Elliot D., Threadgold G.,
RA Harden G., Ware D., Begum S., Mortimore B., Kerry G., Heath P.,
RA Phillimore B., Tracey A., Corby N., Dunn M., Johnson C., Wood J., Clark S.,
RA Pelan S., Griffiths G., Smith M., Glithero R., Howden P., Barker N.,
RA Lloyd C., Stevens C., Harley J., Holt K., Panagiotidis G., Lovell J.,
RA Beasley H., Henderson C., Gordon D., Auger K., Wright D., Collins J.,
RA Raisen C., Dyer L., Leung K., Robertson L., Ambridge K., Leongamornlert D.,
RA McGuire S., Gilderthorp R., Griffiths C., Manthravadi D., Nichol S.,
RA Barker G., Whitehead S., Kay M., Brown J., Murnane C., Gray E.,
RA Humphries M., Sycamore N., Barker D., Saunders D., Wallis J., Babbage A.,
RA Hammond S., Mashreghi-Mohammadi M., Barr L., Martin S., Wray P.,
RA Ellington A., Matthews N., Ellwood M., Woodmansey R., Clark G., Cooper J.,
RA Tromans A., Grafham D., Skuce C., Pandian R., Andrews R., Harrison E.,
RA Kimberley A., Garnett J., Fosker N., Hall R., Garner P., Kelly D., Bird C.,
RA Palmer S., Gehring I., Berger A., Dooley C.M., Ersan-Urun Z., Eser C.,
RA Geiger H., Geisler M., Karotki L., Kirn A., Konantz J., Konantz M.,
RA Oberlander M., Rudolph-Geiger S., Teucke M., Lanz C., Raddatz G.,
RA Osoegawa K., Zhu B., Rapp A., Widaa S., Langford C., Yang F.,
RA Schuster S.C., Carter N.P., Harrow J., Ning Z., Herrero J., Searle S.M.,
RA Enright A., Geisler R., Plasterk R.H., Lee C., Westerfield M.,
RA de Jong P.J., Zon L.I., Postlethwait J.H., Nusslein-Volhard C.,
RA Hubbard T.J., Roest Crollius H., Rogers J., Stemple D.L.;
RT "The zebrafish reference genome sequence and its relationship to the human
RT genome.";
RL Nature 496:498-503(2013).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1-309.
RC TISSUE=Testis;
RG NIH - Zebrafish Gene Collection (ZGC) project;
RL Submitted (DEC-2006) to the EMBL/GenBank/DDBJ databases.
CC -!- FUNCTION: May play a structural role in chromatin. Involved in sister
CC chromatid cohesion, possibly by facilitating the cohesin complex
CC loading (PubMed:22039349). Transcription factor, which may promote
CC cortical neuron migration during brain development by regulating the
CC transcription of crucial genes in this process (By similarity).
CC {ECO:0000250|UniProtKB:Q6KCD5, ECO:0000269|PubMed:22039349}.
CC -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000250|UniProtKB:Q6KCD5}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=F1QBY1-1; Sequence=Displayed;
CC Name=2;
CC IsoId=F1QBY1-2; Sequence=VSP_044330, VSP_044331;
CC -!- DEVELOPMENTAL STAGE: Detected in the early blastula, 2.5 hours post
CC fertilization (hpf), before the onset of zygotic gene expression, and
CC expression progressively increases, reaching a peak at late gastrula
CC stages (9 hpf), before decreasing by 26 hpf. Maternal transcripts are
CC detected throughout the blastoderm. Ubiquitous expression continues
CC until early somitogenesis (12 hpf), after which transcript levels
CC gradually decrease in the trunk (15-18 hpf), with strong expression
CC becoming restricted to the head by 25 hpf.
CC {ECO:0000269|PubMed:22039349}.
CC -!- DOMAIN: Contains one Pro-Xaa-Val-Xaa-Leu (PxVxL) motif, which is
CC required for interaction with chromoshadow domains. This motif requires
CC additional residues -7, -6, +4 and +5 of the central Val which contact
CC the chromoshadow domain (By similarity).
CC {ECO:0000250|UniProtKB:Q6KC79}.
CC -!- SIMILARITY: Belongs to the SCC2/Nipped-B family. {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=AAI29433.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305};
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DR EMBL; AB630365; BAK23967.1; -; mRNA.
DR EMBL; AL929053; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BX548163; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC129432; AAI29433.1; ALT_SEQ; mRNA.
DR RefSeq; NP_001154919.2; NM_001161447.2. [F1QBY1-1]
DR SMR; F1QBY1; -.
DR STRING; 7955.ENSDARP00000081295; -.
DR PaxDb; F1QBY1; -.
DR PRIDE; F1QBY1; -.
DR Ensembl; ENSDART00000086861; ENSDARP00000081295; ENSDARG00000061052. [F1QBY1-2]
DR Ensembl; ENSDART00000108484; ENSDARP00000098849; ENSDARG00000061052. [F1QBY1-1]
DR GeneID; 794108; -.
DR KEGG; dre:794108; -.
DR CTD; 794108; -.
DR ZFIN; ZDB-GENE-030131-6070; nipblb.
DR eggNOG; KOG1020; Eukaryota.
DR GeneTree; ENSGT00390000010427; -.
DR HOGENOM; CLU_000763_0_0_1; -.
DR InParanoid; F1QBY1; -.
DR OrthoDB; 7137at2759; -.
DR TreeFam; TF313121; -.
DR Reactome; R-DRE-2470946; Cohesin Loading onto Chromatin.
DR PRO; PR:F1QBY1; -.
DR Proteomes; UP000000437; Genome assembly.
DR Proteomes; UP000814640; Chromosome 10.
DR Bgee; ENSDARG00000061052; Expressed in somite and 36 other tissues.
DR GO; GO:0090694; C:Scc2-Scc4 cohesin loading complex; IBA:GO_Central.
DR GO; GO:0003682; F:chromatin binding; IBA:GO_Central.
DR GO; GO:0007420; P:brain development; IBA:GO_Central.
DR GO; GO:0007417; P:central nervous system development; IMP:ZFIN.
DR GO; GO:0071921; P:cohesin loading; ISS:UniProtKB.
DR GO; GO:0048589; P:developmental growth; IGI:ZFIN.
DR GO; GO:0048565; P:digestive tract development; IGI:ZFIN.
DR GO; GO:0035118; P:embryonic pectoral fin morphogenesis; IGI:ZFIN.
DR GO; GO:0048703; P:embryonic viscerocranium morphogenesis; IGI:ZFIN.
DR GO; GO:0034087; P:establishment of mitotic sister chromatid cohesion; IBA:GO_Central.
DR GO; GO:0071169; P:establishment of protein localization to chromatin; IBA:GO_Central.
DR GO; GO:0007507; P:heart development; IGI:ZFIN.
DR GO; GO:0003146; P:heart jogging; IGI:ZFIN.
DR GO; GO:0003007; P:heart morphogenesis; IBA:GO_Central.
DR GO; GO:0061780; P:mitotic cohesin loading; IEA:InterPro.
DR GO; GO:0070050; P:neuron cellular homeostasis; IMP:ZFIN.
DR GO; GO:0060828; P:regulation of canonical Wnt signaling pathway; IMP:ZFIN.
DR GO; GO:0010468; P:regulation of gene expression; IEA:InterPro.
DR GO; GO:1990414; P:replication-born double-strand break repair via sister chromatid exchange; IBA:GO_Central.
DR Gene3D; 1.25.10.10; -; 2.
DR InterPro; IPR011989; ARM-like.
DR InterPro; IPR016024; ARM-type_fold.
DR InterPro; IPR026003; Cohesin_HEAT.
DR InterPro; IPR024986; Nipped-B_C.
DR InterPro; IPR033031; Scc2/Nipped-B.
DR PANTHER; PTHR21704; PTHR21704; 2.
DR Pfam; PF12765; Cohesin_HEAT; 1.
DR Pfam; PF12830; Nipped-B_C; 1.
DR SUPFAM; SSF48371; SSF48371; 2.
PE 2: Evidence at transcript level;
KW Activator; Alternative splicing; Cell cycle; Developmental protein;
KW Nucleus; Reference proteome; Repeat; Transcription;
KW Transcription regulation.
FT CHAIN 1..2876
FT /note="Nipped-B-like protein B"
FT /id="PRO_0000419687"
FT REPEAT 1803..1841
FT /note="HEAT 1"
FT REPEAT 1879..1917
FT /note="HEAT 2"
FT REPEAT 1981..2020
FT /note="HEAT 3"
FT REPEAT 2203..2241
FT /note="HEAT 4"
FT REPEAT 2349..2387
FT /note="HEAT 5"
FT REGION 124..197
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 246..367
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 439..494
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 525..1017
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 1088..1229
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 1724..1747
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 2516..2590
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 2728..2774
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOTIF 1068..1081
FT /note="PxVxL motif"
FT /evidence="ECO:0000250|UniProtKB:Q6KC79"
FT COMPBIAS 124..166
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 279..293
FT /note="Pro residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 300..318
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 328..353
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 439..467
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 557..576
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 590..1007
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 1100..1138
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 1146..1199
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 2516..2534
FT /note="Basic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 2549..2564
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 2565..2586
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 2749..2774
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 1557
FT /note="K -> KVR (in isoform 2)"
FT /evidence="ECO:0000305"
FT /id="VSP_044330"
FT VAR_SEQ 1677
FT /note="E -> EVNNR (in isoform 2)"
FT /evidence="ECO:0000305"
FT /id="VSP_044331"
FT CONFLICT 229
FT /note="A -> T (in Ref. 3; AAI29433)"
FT /evidence="ECO:0000305"
FT CONFLICT 248
FT /note="E -> D (in Ref. 3; AAI29433)"
FT /evidence="ECO:0000305"
FT CONFLICT 594
FT /note="I -> K (in Ref. 1; BAK23967)"
FT /evidence="ECO:0000305"
FT CONFLICT 644
FT /note="S -> T (in Ref. 1; BAK23967)"
FT /evidence="ECO:0000305"
FT CONFLICT 2680
FT /note="S -> A (in Ref. 1; BAK23967)"
FT /evidence="ECO:0000305"
FT CONFLICT 2759
FT /note="R -> K (in Ref. 1; BAK23967)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 2876 AA; 326866 MW; F71F9D589AB3C9A3 CRC64;
MNGDMPHVPI TTLAGIASLT DLLNQLPLPS PLPATTTKSL LYNGRIAEEV SCLLSRRDDA
LVSQLAHSLN QVSTEHIELK DNLGSDDPEG DVPLLLQTVL SRNPNVFREK SLMQQPMIPS
YKMPQNSMHG SPASNYQQTT ITPSPPSRYV QTQAGSGSRY MPQQNSPVPS PYAPQSPAGY
MQYSHPPSYP QHQPIQQVSV SSPIVPSGMR NIHDNKVSGQ VSGNSNHNAR HCSSDEYINI
VQRLGNDEGD PAMRNTSFPV RSACSPAGSE GTPKVGPRPP LILQSPPPYT SPSDTAPDLL
LDSPERKKKQ KRLLKEEGGK GAMYGIVSSP SKDSTKLTIK LSRVKSSETE QSAEPVVPVV
DHGSDAENEV SCNSLSYHRN PQERLSAGQC LSGEQSAYQQ VPVLQNIGAL AAKQPGVVSG
TPYDEAELDA LAEIERIERE SAIERERCSK EVQDKDKPLK KRKQDSYPQE PGAAGTAGAS
GTPGVGGGCN AGNKLVPQEA CAASNGSSRP ALMVSIDLQQ AGRVEGPVDS CPVPATEAQR
WTEDGSESTG VLRLKSKTDG EVQRTVDGRP EVIKQRVETT PQKTAVDGRP ETPINKHENR
REISNKVSSE KRSDLSKHRH DGKAEKIRAE GKGHETSRKH EGRSELSRDC KEERHREKDS
DSSKGRRSDT SKSSRVEHNR DKEQEQEKVG DKGLEKGREK ELEKGRDKER VKDQEKDQEK
GRDKEVEKGR YKERVKDRVK EQEKVRDKEQ VKGRDKKRSK DLEKCREKDQ DKELEKDREK
NQDKELEKGR EKDQDKELEK GREKDRDKEM EKAREKDQDK ELEKGREKDQ DKELEKGQEK
DRDKVREKDR DKVRDKDRDK VREKDRDKVR EKDRDKLREK DREKIRERDR DKGREKDRDK
EQVKTREKDQ EKERLKDRDK EREKVRDKGR DRDRDQEKKR NKELTEDKQA PEQRSRPNSP
RVKQEPRNGE ESKIKPERSV HKNSNNKDEK RGGENKNQLD GHKPQSIDSK TADFPNYLLG
GKSSALKNFV IPKLKRDKEG NVMQEVRIEL FSEPRVKLEK LDLVEDLNKG AKPVVVLKKL
SIDEVQKMIS NSRSSKSSRS SHGRFRETDS RLPLCERVKM NKRRRSSTNE KPKYAEVSSD
DDSSSSVEIA PKRSKKDRDK TWEYEEKDRR GSGDHRRSFD SRRSSGGRHR ERSPEDSDED
SPPPSLSDLA RKLKKKEKQK KRKAYEPKLT VDEMMDSSTF KRFTTSVDNI LDNLEDVDLT
SLDDDEIPQE LLLGKHQLSE LSSESAKIKA MGIMHKITHD KMVKVQSILE KNIQDGAKLS
TLMNHDNDRD DEERLWRDLI MERVTKSADA CLTALNIMTS ARMPKAVYIE DVIERVVQYT
KFHLQNTLYP QYDPVYRVDH HGGGTLSSKA KRAKCSTHKQ RVTVMLYNKV CDIISNLSEL
LEIQLLTDTT ILQISSLGIT PFFVENVSEL QLCAIKLVTA VFSRYEKHRQ LILEEIFTSL
ARLPTSKRNL RNYRLNSSDV DGEPMYIQMV TALVLQLIQC VVNLPSDKDS DEENDRKVDH
DVLITNSYET AMRTAQNFLS VFLKKCGSKQ GEDDYRPLFE NFVQDLLSTV NKPDWPAAEL
LLSLLGRLLV HQFSNKQTEM ALRVASLDYL GTVAARLRKD AVTSKMDQRS INRILGENSG
SDEIQQLQKA LLNYLDENVE TDPFLLFARK FYLAQWYRDT STETEKAMKS QRDDDSSDGP
HHAKDVETTS EILQKAEARK KFLRSVIKTT ASKFSSLRVN SDTVDYEDSC LIVRYLASMR
PFAQSFDIYL TQILRVLGES AIAVRTKAMK CLSEVVAVDP SILARLDMQR GVHGRLMDNS
TSVREAAVEL LGRFVLSRPQ LTEQYYDMLI ERILDTGISV RKRVIKILRD ICLEQPTFNK
VTEMCVKMIR RVNDEEGIKK LVNETFQKLW FTPTPNHDKE AMTRKILNIT DVVAACRDSG
YDWFEQLLQN LLKSEEDASY KPARKACAQL VDSLVEHILK YEESLADCEN KGLTSNRLVA
CITTLYLFSK IRPHLMVKHA MTMQPYLTTK CNTQSDFMVI CNVAKILELV VPLMDHPSES
FLTTIEEDLM KLIIKYGMTV VQHCVSCLGA VVNRVTHNYK FVWSCFNRYY GALSKLKMQH
QEDPNSTVLV SNKPALLRSL FTVGALCRHF DFDQEEFKGS NKVVIKDKVL ELLLYFTKND
DEEVQTKAII GLGFLFIQDP GLMFVTEVKN LYNTLLADRK TSVNLKIQVL KNLQTYLQEE
DSRMQEADRE WNKLSKKEDL KEMGDISSGM SSSIMQLYLK QVLEAFFHTQ SSVRHYALNV
IALTLNQGLI HPVQCVPYLI AMGTDSEPTM RNKADQQLVE IDKKYTGFIH MKAVAGMKMS
YQVQQAIVGS KDTVIRGFRL DESSTALCSH LYTMVRGNRQ HRRAFLISLL NLFDDNTKSD
VNMLLYIADN LASFPYQTQE EPMFIMHHVD ITLSVSGSNL LQSFKESLLK EPRKVEVVKK
KKKKKKKKKQ KQKRGKKYGS EEEDESSRSS SSSSSSSSSS SDSDSSEEEV IHRRKKPRRT
TANSDSDSDL DVEDVDKVML RLPDNPEPLL DFANASQGIL LLLMLKQHLK NLYGFSDSKI
QKYSPTESAK IYDKAVNRKA NVHFNPRQTL DYLTNSLSNS DLSNDVKRRV VRQYLDFKVL
MEHLDPDEEE EEGEASASSH ARNKAINALL GGSSPKNNAA ESYDDDSEVE EKTPGSSRRS
RRTGDSAEAS GHRNETVEAT DVIALCCPKY KDRPQIARVI QKTSKGYSIH WMAGSYSGTW
AEAKKRDGRK LVPWVDTIKE SDIIYKKIAL TSAHKLSNKV VQTLRSLYAA KEGSSS
