NOTO_HUMAN
ID NOTO_HUMAN Reviewed; 251 AA.
AC A8MTQ0; B4DJ59; B7ZAU5;
DT 01-JUL-2008, integrated into UniProtKB/Swiss-Prot.
DT 01-JUL-2008, sequence version 2.
DT 03-AUG-2022, entry version 116.
DE RecName: Full=Homeobox protein notochord;
GN Name=NOTO;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Substantia nigra, and Testis;
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15815621; DOI=10.1038/nature03466;
RA Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P.,
RA Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C.,
RA Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L.,
RA Du H., Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A.,
RA Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J.,
RA Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M.,
RA Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T.,
RA Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S.,
RA Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K.,
RA McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C.,
RA Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S.,
RA Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C.,
RA Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M.,
RA Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C.,
RA Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J.,
RA Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E.,
RA Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X.,
RA Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M.,
RA Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C.,
RA Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S.,
RA Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H.,
RA Wilson R.K.;
RT "Generation and annotation of the DNA sequences of human chromosomes 2 and
RT 4.";
RL Nature 434:724-731(2005).
CC -!- FUNCTION: Transcription regulator acting downstream of both FOXA2 and
CC Brachyury (T) during notochord development. Required for node
CC morphogenesis. Is essential for cilia formation in the posterior
CC notochord (PNC) and for left-right patterning; acts upstream of FOXJ1
CC and RFX3 in this process and is required for the expression of various
CC components important for axonemal assembly and function. Plays a role
CC in regulating axial versus paraxial cell fate. Activates the
CC transcription of ciliary proteins C11orf97 homolog, FAM183B and SPACA9
CC in the embryonic ventral node (By similarity).
CC {ECO:0000250|UniProtKB:Q5TIS6}.
CC -!- INTERACTION:
CC A8MTQ0; X5D778: ANKRD11; NbExp=3; IntAct=EBI-17490746, EBI-17183751;
CC A8MTQ0; P41238: APOBEC1; NbExp=3; IntAct=EBI-17490746, EBI-12819523;
CC A8MTQ0; O95817: BAG3; NbExp=3; IntAct=EBI-17490746, EBI-747185;
CC A8MTQ0; Q8N9N5-2: BANP; NbExp=3; IntAct=EBI-17490746, EBI-11524452;
CC A8MTQ0; P20290-2: BTF3; NbExp=3; IntAct=EBI-17490746, EBI-1054703;
CC A8MTQ0; Q96HB5: CCDC120; NbExp=3; IntAct=EBI-17490746, EBI-744556;
CC A8MTQ0; Q96LK0: CEP19; NbExp=3; IntAct=EBI-17490746, EBI-741885;
CC A8MTQ0; Q13111: CHAF1A; NbExp=3; IntAct=EBI-17490746, EBI-1020839;
CC A8MTQ0; Q53HC9: EIPR1; NbExp=3; IntAct=EBI-17490746, EBI-1055422;
CC A8MTQ0; Q6ZN32: ETV3L; NbExp=3; IntAct=EBI-17490746, EBI-17491518;
CC A8MTQ0; Q8IZU0: FAM9B; NbExp=3; IntAct=EBI-17490746, EBI-10175124;
CC A8MTQ0; O60548: FOXD2; NbExp=3; IntAct=EBI-17490746, EBI-17282008;
CC A8MTQ0; O75593: FOXH1; NbExp=3; IntAct=EBI-17490746, EBI-1759806;
CC A8MTQ0; Q8IVS8: GLYCTK; NbExp=3; IntAct=EBI-17490746, EBI-748515;
CC A8MTQ0; P61978-2: HNRNPK; NbExp=3; IntAct=EBI-17490746, EBI-7060731;
CC A8MTQ0; Q96PC2: IP6K3; NbExp=3; IntAct=EBI-17490746, EBI-10990676;
CC A8MTQ0; O76011: KRT34; NbExp=3; IntAct=EBI-17490746, EBI-1047093;
CC A8MTQ0; Q3SYF9: KRTAP19-7; NbExp=3; IntAct=EBI-17490746, EBI-10241353;
CC A8MTQ0; Q6L8G9: KRTAP5-6; NbExp=3; IntAct=EBI-17490746, EBI-10250562;
CC A8MTQ0; Q3LI64: KRTAP6-1; NbExp=3; IntAct=EBI-17490746, EBI-12111050;
CC A8MTQ0; Q5SW96: LDLRAP1; NbExp=3; IntAct=EBI-17490746, EBI-747813;
CC A8MTQ0; Q7Z4F1: LRP10; NbExp=3; IntAct=EBI-17490746, EBI-2830349;
CC A8MTQ0; Q9Y5V3: MAGED1; NbExp=3; IntAct=EBI-17490746, EBI-716006;
CC A8MTQ0; O14770-4: MEIS2; NbExp=3; IntAct=EBI-17490746, EBI-8025850;
CC A8MTQ0; Q9H2Z4: NKX2-4; NbExp=3; IntAct=EBI-17490746, EBI-9995757;
CC A8MTQ0; Q8WWB5: PIH1D2; NbExp=3; IntAct=EBI-17490746, EBI-10232538;
CC A8MTQ0; Q12837: POU4F2; NbExp=3; IntAct=EBI-17490746, EBI-17236143;
CC A8MTQ0; P0C264: SBK3; NbExp=3; IntAct=EBI-17490746, EBI-17181801;
CC A8MTQ0; Q5W5X9-3: TTC23; NbExp=3; IntAct=EBI-17490746, EBI-9090990;
CC A8MTQ0; P0CB47: UBTFL1; NbExp=3; IntAct=EBI-17490746, EBI-17208936;
CC A8MTQ0; PRO_0000449627 [P0DTD1]: rep; Xeno; NbExp=3; IntAct=EBI-17490746, EBI-25475877;
CC A8MTQ0; PRO_0000449631 [P0DTD1]: rep; Xeno; NbExp=3; IntAct=EBI-17490746, EBI-25475920;
CC A8MTQ0; PRO_0000449633 [P0DTD1]: rep; Xeno; NbExp=3; IntAct=EBI-17490746, EBI-25492395;
CC -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00108}.
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DR EMBL; AK295936; BAG58721.1; -; mRNA.
DR EMBL; AK316410; BAH14781.1; -; mRNA.
DR EMBL; AC010913; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR CCDS; CCDS46335.1; -.
DR RefSeq; NP_001127934.1; NM_001134462.1.
DR AlphaFoldDB; A8MTQ0; -.
DR SMR; A8MTQ0; -.
DR BioGRID; 131286; 34.
DR IntAct; A8MTQ0; 31.
DR STRING; 9606.ENSP00000381486; -.
DR iPTMnet; A8MTQ0; -.
DR PhosphoSitePlus; A8MTQ0; -.
DR BioMuta; NOTO; -.
DR MassIVE; A8MTQ0; -.
DR PaxDb; A8MTQ0; -.
DR PRIDE; A8MTQ0; -.
DR Antibodypedia; 31317; 35 antibodies from 13 providers.
DR DNASU; 344022; -.
DR Ensembl; ENST00000398468.4; ENSP00000381486.3; ENSG00000214513.4.
DR GeneID; 344022; -.
DR KEGG; hsa:344022; -.
DR MANE-Select; ENST00000398468.4; ENSP00000381486.3; NM_001134462.2; NP_001127934.1.
DR UCSC; uc010yrd.3; human.
DR CTD; 344022; -.
DR GeneCards; NOTO; -.
DR HGNC; HGNC:31839; NOTO.
DR HPA; ENSG00000214513; Not detected.
DR neXtProt; NX_A8MTQ0; -.
DR OpenTargets; ENSG00000214513; -.
DR PharmGKB; PA134895171; -.
DR VEuPathDB; HostDB:ENSG00000214513; -.
DR eggNOG; KOG0843; Eukaryota.
DR GeneTree; ENSGT00940000154361; -.
DR HOGENOM; CLU_1106811_0_0_1; -.
DR InParanoid; A8MTQ0; -.
DR OMA; GSACVHP; -.
DR OrthoDB; 1189098at2759; -.
DR PhylomeDB; A8MTQ0; -.
DR TreeFam; TF326858; -.
DR PathwayCommons; A8MTQ0; -.
DR SignaLink; A8MTQ0; -.
DR BioGRID-ORCS; 344022; 12 hits in 1086 CRISPR screens.
DR GenomeRNAi; 344022; -.
DR Pharos; A8MTQ0; Tdark.
DR PRO; PR:A8MTQ0; -.
DR Proteomes; UP000005640; Chromosome 2.
DR RNAct; A8MTQ0; protein.
DR Bgee; ENSG00000214513; Expressed in duodenum and 3 other tissues.
DR GO; GO:0000785; C:chromatin; ISA:NTNU_SB.
DR GO; GO:0005634; C:nucleus; IBA:GO_Central.
DR GO; GO:0000981; F:DNA-binding transcription factor activity, RNA polymerase II-specific; ISA:NTNU_SB.
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; IDA:ARUK-UCL.
DR GO; GO:0007417; P:central nervous system development; IBA:GO_Central.
DR GO; GO:0009953; P:dorsal/ventral pattern formation; IEA:Ensembl.
DR GO; GO:0009880; P:embryonic pattern specification; IEA:Ensembl.
DR GO; GO:0001947; P:heart looping; IEA:Ensembl.
DR GO; GO:0044458; P:motile cilium assembly; IEA:Ensembl.
DR GO; GO:0030182; P:neuron differentiation; IBA:GO_Central.
DR GO; GO:0030903; P:notochord development; IEA:Ensembl.
DR GO; GO:1902017; P:regulation of cilium assembly; IEA:Ensembl.
DR GO; GO:0006357; P:regulation of transcription by RNA polymerase II; IBA:GO_Central.
DR CDD; cd00086; homeodomain; 1.
DR InterPro; IPR009057; Homeobox-like_sf.
DR InterPro; IPR001356; Homeobox_dom.
DR Pfam; PF00046; Homeodomain; 1.
DR SMART; SM00389; HOX; 1.
DR SUPFAM; SSF46689; SSF46689; 1.
DR PROSITE; PS50071; HOMEOBOX_2; 1.
PE 1: Evidence at protein level;
KW Developmental protein; DNA-binding; Homeobox; Nucleus; Reference proteome;
KW Transcription; Transcription regulation.
FT CHAIN 1..251
FT /note="Homeobox protein notochord"
FT /id="PRO_0000343223"
FT DNA_BIND 156..215
FT /note="Homeobox"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00108"
FT REGION 1..47
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 224..251
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 1..18
FT /note="Pro residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 224..243
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VARIANT 5
FT /note="R -> T (in dbSNP:rs1864492)"
FT /id="VAR_059353"
FT VARIANT 164
FT /note="N -> K (in dbSNP:rs13418681)"
FT /id="VAR_059354"
SQ SEQUENCE 251 AA; 27003 MW; 56BBB3E0E6B5B092 CRC64;
MPSPRPRGSP PPAPSGSRVR PPRSGRSPAP RSPTGPNTPR APGRFESPFS VEAILARPDP
CAPAASQPSG SACVHPAFWT AASLCATGGL PWACPTSWLP AYLSVGFYPV PGPRVAPVCG
LLGFGVTGLE LAHCSGLWAF PDWAPTEDLQ DTERQQKRVR TMFNLEQLEE LEKVFAKQHN
LVGKKRAQLA ARLKLTENQV RVWFQNRRVK YQKQQKLRAA VTSAEAASLD EPSSSSIASI
QSDDAESGVD G
