ID NOTO_MOUSE Reviewed; 240 AA.
AC Q5TIS6;
DT 22-JUL-2008, integrated into UniProtKB/Swiss-Prot.
DT 21-DEC-2004, sequence version 1.
DT 27-MAR-2024, entry version 139.
DE RecName: Full=Homeobox protein notochord;
GN Name=Noto; Synonyms=Not;
OS Mus musculus (Mouse).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae;
OC Murinae; Mus; Mus.
OX NCBI_TaxID=10090;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA], FUNCTION, DEVELOPMENTAL STAGE, AND VARIANT
RP TRUNCATE CYS-168.
RC STRAIN=129/SvImJ, C57BL/6J, and CD-1; TISSUE=Embryo;
RX PubMed=15231714; DOI=10.1101/gad.303504;
RA Ben Abdelkhalek H., Beckers A., Schuster-Gossler K., Pavlova M.N.,
RA Burkhardt H., Lickert H., Rossant J., Reinhardt R., Schalkwyk L.C.,
RA Mueller I., Herrmann B.G., Ceolin M., Rivera-Pomar R., Gossler A.;
RT "The mouse homeobox gene Not is required for caudal notochord development
RT and affected by the truncate mutation.";
RL Genes Dev. 18:1725-1736(2004).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC STRAIN=C57BL/6J; TISSUE=Egg;
RX PubMed=16141072; DOI=10.1126/science.1112014;
RA Carninci P., Kasukawa T., Katayama S., Gough J., Frith M.C., Maeda N.,
RA Oyama R., Ravasi T., Lenhard B., Wells C., Kodzius R., Shimokawa K.,
RA Bajic V.B., Brenner S.E., Batalov S., Forrest A.R., Zavolan M., Davis M.J.,
RA Wilming L.G., Aidinis V., Allen J.E., Ambesi-Impiombato A., Apweiler R.,
RA Aturaliya R.N., Bailey T.L., Bansal M., Baxter L., Beisel K.W., Bersano T.,
RA Bono H., Chalk A.M., Chiu K.P., Choudhary V., Christoffels A.,
RA Clutterbuck D.R., Crowe M.L., Dalla E., Dalrymple B.P., de Bono B.,
RA Della Gatta G., di Bernardo D., Down T., Engstrom P., Fagiolini M.,
RA Faulkner G., Fletcher C.F., Fukushima T., Furuno M., Futaki S.,
RA Gariboldi M., Georgii-Hemming P., Gingeras T.R., Gojobori T., Green R.E.,
RA Gustincich S., Harbers M., Hayashi Y., Hensch T.K., Hirokawa N., Hill D.,
RA Huminiecki L., Iacono M., Ikeo K., Iwama A., Ishikawa T., Jakt M.,
RA Kanapin A., Katoh M., Kawasawa Y., Kelso J., Kitamura H., Kitano H.,
RA Kollias G., Krishnan S.P., Kruger A., Kummerfeld S.K., Kurochkin I.V.,
RA Lareau L.F., Lazarevic D., Lipovich L., Liu J., Liuni S., McWilliam S.,
RA Madan Babu M., Madera M., Marchionni L., Matsuda H., Matsuzawa S., Miki H.,
RA Mignone F., Miyake S., Morris K., Mottagui-Tabar S., Mulder N., Nakano N.,
RA Nakauchi H., Ng P., Nilsson R., Nishiguchi S., Nishikawa S., Nori F.,
RA Ohara O., Okazaki Y., Orlando V., Pang K.C., Pavan W.J., Pavesi G.,
RA Pesole G., Petrovsky N., Piazza S., Reed J., Reid J.F., Ring B.Z.,
RA Ringwald M., Rost B., Ruan Y., Salzberg S.L., Sandelin A., Schneider C.,
RA Schoenbach C., Sekiguchi K., Semple C.A., Seno S., Sessa L., Sheng Y.,
RA Shibata Y., Shimada H., Shimada K., Silva D., Sinclair B., Sperling S.,
RA Stupka E., Sugiura K., Sultana R., Takenaka Y., Taki K., Tammoja K.,
RA Tan S.L., Tang S., Taylor M.S., Tegner J., Teichmann S.A., Ueda H.R.,
RA van Nimwegen E., Verardo R., Wei C.L., Yagi K., Yamanishi H.,
RA Zabarovsky E., Zhu S., Zimmer A., Hide W., Bult C., Grimmond S.M.,
RA Teasdale R.D., Liu E.T., Brusic V., Quackenbush J., Wahlestedt C.,
RA Mattick J.S., Hume D.A., Kai C., Sasaki D., Tomaru Y., Fukuda S.,
RA Kanamori-Katayama M., Suzuki M., Aoki J., Arakawa T., Iida J., Imamura K.,
RA Itoh M., Kato T., Kawaji H., Kawagashira N., Kawashima T., Kojima M.,
RA Kondo S., Konno H., Nakano K., Ninomiya N., Nishio T., Okada M., Plessy C.,
RA Shibata K., Shiraki T., Suzuki S., Tagami M., Waki K., Watahiki A.,
RA Okamura-Oho Y., Suzuki H., Kawai J., Hayashizaki Y.;
RT "The transcriptional landscape of the mammalian genome.";
RL Science 309:1559-1563(2005).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [4]
RP FUNCTION.
RX PubMed=18061569; DOI=10.1016/j.devcel.2007.10.016;
RA Yamanaka Y., Tamplin O.J., Beckers A., Gossler A., Rossant J.;
RT "Live imaging and genetic analysis of mouse notochord formation reveals
RT regional morphogenetic mechanisms.";
RL Dev. Cell 13:884-896(2007).
RN [5]
RP FUNCTION.
RX PubMed=17884984; DOI=10.1073/pnas.0704344104;
RA Beckers A., Alten L., Viebahn C., Andre P., Gossler A.;
RT "The mouse homeobox gene Noto regulates node morphogenesis, notochordal
RT ciliogenesis, and left right patterning.";
RL Proc. Natl. Acad. Sci. U.S.A. 104:15765-15770(2007).
RN [6]
RP FUNCTION.
RX PubMed=22357932; DOI=10.1242/dev.072728;
RA Alten L., Schuster-Gossler K., Beckers A., Groos S., Ulmer B.,
RA Hegermann J., Ochs M., Gossler A.;
RT "Differential regulation of node formation, nodal ciliogenesis and cilia
RT positioning by Noto and Foxj1.";
RL Development 139:1276-1284(2012).
RN [7]
RP FUNCTION.
RX PubMed=27914912; DOI=10.1016/j.ydbio.2016.11.019;
RA Stauber M., Weidemann M., Dittrich-Breiholz O., Lobschat K., Alten L.,
RA Mai M., Beckers A., Kracht M., Gossler A.;
RT "Identification of FOXJ1 effectors during ciliogenesis in the foetal
RT respiratory epithelium and embryonic left-right organiser of the mouse.";
RL Dev. Biol. 423:170-188(2017).
CC -!- FUNCTION: Transcription factor that controls node morphogenesis
CC (PubMed:15231714, PubMed:17884984, PubMed:18061569, PubMed:22357932).
CC Acts downstream of both FOXA2 and Brachyury (T) during notochord
CC development (PubMed:15231714). Is essential for cilia formation in the
CC posterior notochord (PNC) and for left-right patterning; acts upstream
CC of FOXJ1 and RFX3 in this process and is required for the expression of
CC various components important for axonemal assembly and function
CC (PubMed:17884984). Plays a role in regulating axial versus paraxial
CC cell fate (PubMed:18061569). Activates the transcription of ciliary
CC proteins C11orf97 homolog, FAM183B and SPACA9 in the embryonic ventral
CC node (PubMed:27914912). {ECO:0000269|PubMed:15231714,
CC ECO:0000269|PubMed:17884984, ECO:0000269|PubMed:18061569,
CC ECO:0000269|PubMed:22357932, ECO:0000269|PubMed:27914912}.
CC -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00108}.
CC -!- DEVELOPMENTAL STAGE: First detected at 7.5 dpc in the node at the
CC distal tip of the egg cylinder and is largely confined to the ventral
CC node. Between 8 dpc and 9 dpc, highly expressed in the node and newly
CC formed notochord. At 12.5 dpc, expression is confined to the
CC notochordal plate and caudal portion of the notochord.
CC {ECO:0000269|PubMed:15231714}.
CC -!- DISEASE: Note=Defects in Noto are the cause of the truncate (tc)
CC phenotype. Truncate (tc) is a recessive mutation that affects the
CC development of the caudal notochord. Mice homozygous for tc are viable
CC but viability is reduced, which is attributed at least in part to
CC spinal injury in the sacral and lower lumbar region.
CC {ECO:0000269|PubMed:15231714}.
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DR EMBL; AJ862873; CAI05851.1; -; mRNA.
DR EMBL; AJ862874; CAI05852.1; -; mRNA.
DR EMBL; AJ862875; CAI05853.1; -; mRNA.
DR EMBL; AK135886; BAE22716.1; -; mRNA.
DR EMBL; BC139154; AAI39155.1; -; mRNA.
DR EMBL; BC139155; AAI39156.1; -; mRNA.
DR CCDS; CCDS20293.1; -.
DR RefSeq; NP_001007473.1; NM_001007472.2.
DR AlphaFoldDB; Q5TIS6; -.
DR SMR; Q5TIS6; -.
DR STRING; 10090.ENSMUSP00000087006; -.
DR PhosphoSitePlus; Q5TIS6; -.
DR PaxDb; 10090-ENSMUSP00000087006; -.
DR Antibodypedia; 31317; 47 antibodies from 13 providers.
DR DNASU; 384452; -.
DR Ensembl; ENSMUST00000089578.9; ENSMUSP00000087006.7; ENSMUSG00000068302.9.
DR GeneID; 384452; -.
DR KEGG; mmu:384452; -.
DR UCSC; uc009cpp.2; mouse.
DR AGR; MGI:3053002; -.
DR CTD; 344022; -.
DR MGI; MGI:3053002; Noto.
DR VEuPathDB; HostDB:ENSMUSG00000068302; -.
DR eggNOG; KOG0843; Eukaryota.
DR GeneTree; ENSGT00940000154361; -.
DR HOGENOM; CLU_1106811_0_0_1; -.
DR InParanoid; Q5TIS6; -.
DR OMA; CPATWLP; -.
DR OrthoDB; 903523at2759; -.
DR PhylomeDB; Q5TIS6; -.
DR TreeFam; TF326858; -.
DR BioGRID-ORCS; 384452; 2 hits in 76 CRISPR screens.
DR PRO; PR:Q5TIS6; -.
DR Proteomes; UP000000589; Chromosome 6.
DR RNAct; Q5TIS6; Protein.
DR Bgee; ENSMUSG00000068302; Expressed in primary oocyte and 13 other cell types or tissues.
DR ExpressionAtlas; Q5TIS6; baseline and differential.
DR GO; GO:0005654; C:nucleoplasm; TAS:Reactome.
DR GO; GO:0005634; C:nucleus; IBA:GO_Central.
DR GO; GO:0000981; F:DNA-binding transcription factor activity, RNA polymerase II-specific; IBA:GO_Central.
DR GO; GO:0000978; F:RNA polymerase II cis-regulatory region sequence-specific DNA binding; IBA:GO_Central.
DR GO; GO:1990837; F:sequence-specific double-stranded DNA binding; ISO:MGI.
DR GO; GO:0008283; P:cell population proliferation; IEA:UniProt.
DR GO; GO:0007417; P:central nervous system development; IBA:GO_Central.
DR GO; GO:0007368; P:determination of left/right symmetry; IMP:MGI.
DR GO; GO:0009953; P:dorsal/ventral pattern formation; IMP:MGI.
DR GO; GO:0009880; P:embryonic pattern specification; IMP:MGI.
DR GO; GO:0001947; P:heart looping; IMP:MGI.
DR GO; GO:0044458; P:motile cilium assembly; IGI:MGI.
DR GO; GO:0030182; P:neuron differentiation; IBA:GO_Central.
DR GO; GO:0030903; P:notochord development; IMP:MGI.
DR GO; GO:1902017; P:regulation of cilium assembly; IMP:MGI.
DR GO; GO:0006357; P:regulation of transcription by RNA polymerase II; IBA:GO_Central.
DR CDD; cd00086; homeodomain; 1.
DR Gene3D; 1.10.10.60; Homeodomain-like; 1.
DR InterPro; IPR009057; Homeobox-like_sf.
DR InterPro; IPR001356; Homeobox_dom.
DR PANTHER; PTHR24339; HOMEOBOX PROTEIN EMX-RELATED; 1.
DR PANTHER; PTHR24339:SF28; HOMEOBOX PROTEIN NOTOCHORD; 1.
DR Pfam; PF00046; Homeodomain; 1.
DR SMART; SM00389; HOX; 1.
DR SUPFAM; SSF46689; Homeodomain-like; 1.
DR PROSITE; PS50071; HOMEOBOX_2; 1.
PE 1: Evidence at protein level;
KW Developmental protein; Disease variant; DNA-binding; Homeobox; Nucleus;
KW Reference proteome; Transcription; Transcription regulation.
FT CHAIN 1..240
FT /note="Homeobox protein notochord"
FT /id="PRO_0000343224"
FT DNA_BIND 149..208
FT /note="Homeobox"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00108"
FT REGION 1..21
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 208..240
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 208..231
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VARIANT 168
FT /note="F -> C (in truncate (tc); affects homeodomain
FT stability)"
FT /evidence="ECO:0000269|PubMed:15231714"
SQ SEQUENCE 240 AA; 26322 MW; EE0631746751D122 CRC64;
MSSPAPSGTQ VQPGSLRPCP GAVSPVVPRR LARGRLESSF SVEAILARPK TRELAATSLP
LSTCTSLNLL GAVSQYGVLP WVCSTGSWLP AYLSVGVYPL CSMSCVPGLN VTHHQQGLRL
TGSELPYCLG PLKWAPTVDL RDHGTERHTK RVRTTFNLQQ LQELEKVFAK QHNLVGKERA
QLAARLHLTE NQVRIWFQNR RVKYQKQQKL KLPSSSVMEE PSSSSDGNIQ SEDAELGIGS
//
