NLE1_MOUSE
ID NLE1_MOUSE Reviewed; 485 AA.
AC Q8VEJ4; B1ARD5;
DT 19-SEP-2003, integrated into UniProtKB/Swiss-Prot.
DT 27-JUL-2011, sequence version 4.
DT 03-AUG-2022, entry version 149.
DE RecName: Full=Notchless protein homolog 1;
GN Name=Nle1;
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 [LARGE SCALE GENOMIC DNA].
RC STRAIN=C57BL/6J;
RX PubMed=19468303; DOI=10.1371/journal.pbio.1000112;
RA Church D.M., Goodstadt L., Hillier L.W., Zody M.C., Goldstein S., She X.,
RA Bult C.J., Agarwala R., Cherry J.L., DiCuccio M., Hlavina W., Kapustin Y.,
RA Meric P., Maglott D., Birtle Z., Marques A.C., Graves T., Zhou S.,
RA Teague B., Potamousis K., Churas C., Place M., Herschleb J., Runnheim R.,
RA Forrest D., Amos-Landgraf J., Schwartz D.C., Cheng Z., Lindblad-Toh K.,
RA Eichler E.E., Ponting C.P.;
RT "Lineage-specific biology revealed by a finished genome assembly of the
RT mouse.";
RL PLoS Biol. 7:E1000112-E1000112(2009).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC STRAIN=Czech II; TISSUE=Lung;
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 [3]
RP FUNCTION, TISSUE SPECIFICITY, DEVELOPMENTAL STAGE, AND DISRUPTION
RP PHENOTYPE.
RX PubMed=16611995; DOI=10.1128/mcb.26.9.3541-3549.2006;
RA Cormier S., Le Bras S., Souilhol C., Vandormael-Pournin S., Durand B.,
RA Babinet C., Baldacci P., Cohen-Tannoudji M.;
RT "The murine ortholog of notchless, a direct regulator of the notch pathway
RT in Drosophila melanogaster, is essential for survival of inner cell mass
RT cells.";
RL Mol. Cell. Biol. 26:3541-3549(2006).
RN [4]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Pancreas, and Spleen;
RX PubMed=21183079; DOI=10.1016/j.cell.2010.12.001;
RA Huttlin E.L., Jedrychowski M.P., Elias J.E., Goswami T., Rad R.,
RA Beausoleil S.A., Villen J., Haas W., Sowa M.E., Gygi S.P.;
RT "A tissue-specific atlas of mouse protein phosphorylation and expression.";
RL Cell 143:1174-1189(2010).
RN [5]
RP FUNCTION, AND MUTAGENESIS OF SER-163 AND ILE-396.
RC STRAIN=C57BL/6J;
RX PubMed=23231322; DOI=10.1186/1471-2156-13-106;
RA Lossie A.C., Lo C.L., Baumgarner K.M., Cramer M.J., Garner J.P.,
RA Justice M.J.;
RT "ENU mutagenesis reveals that Notchless homolog 1 (Drosophila) affects
RT Cdkn1a and several members of the Wnt pathway during murine pre-
RT implantation development.";
RL BMC Genet. 13:106-106(2012).
CC -!- FUNCTION: Plays a role in regulating Notch activity (Probable). Plays a
CC role in regulating the expression of CDKN1A and several members of the
CC Wnt pathway, probably via its effects on Notch activity. Required
CC during embryogenesis for inner mass cell survival.
CC {ECO:0000269|PubMed:16611995, ECO:0000269|PubMed:23231322,
CC ECO:0000305}.
CC -!- SUBCELLULAR LOCATION: Nucleus, nucleolus {ECO:0000250}.
CC -!- TISSUE SPECIFICITY: Highest expression in heart, brain, lung, liver,
CC skeletal muscle and testis with lower levels in spleen and kidney.
CC {ECO:0000269|PubMed:16611995}.
CC -!- DEVELOPMENTAL STAGE: Expression detected in the embryo at 7.0 dpc, 11.0
CC dpc and 15.0 dpc and also in the adult. {ECO:0000269|PubMed:16611995}.
CC -!- DISRUPTION PHENOTYPE: Embryonic lethality prior to 6.5 dpc with death
CC of inner mass cells. Embryos implant but die shortly after.
CC {ECO:0000269|PubMed:16611995}.
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DR EMBL; AL603745; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC018399; AAH18399.1; -; mRNA.
DR CCDS; CCDS25152.1; -.
DR RefSeq; NP_663406.2; NM_145431.2.
DR AlphaFoldDB; Q8VEJ4; -.
DR SMR; Q8VEJ4; -.
DR BioGRID; 229831; 20.
DR STRING; 10090.ENSMUSP00000099502; -.
DR iPTMnet; Q8VEJ4; -.
DR PhosphoSitePlus; Q8VEJ4; -.
DR EPD; Q8VEJ4; -.
DR MaxQB; Q8VEJ4; -.
DR PaxDb; Q8VEJ4; -.
DR PeptideAtlas; Q8VEJ4; -.
DR PRIDE; Q8VEJ4; -.
DR ProteomicsDB; 293572; -.
DR Antibodypedia; 15565; 246 antibodies from 31 providers.
DR DNASU; 217011; -.
DR Ensembl; ENSMUST00000103213; ENSMUSP00000099502; ENSMUSG00000020692.
DR GeneID; 217011; -.
DR KEGG; mmu:217011; -.
DR UCSC; uc007knt.2; mouse.
DR CTD; 54475; -.
DR MGI; MGI:2429770; Nle1.
DR VEuPathDB; HostDB:ENSMUSG00000020692; -.
DR eggNOG; KOG0271; Eukaryota.
DR GeneTree; ENSGT00940000157881; -.
DR HOGENOM; CLU_000288_57_16_1; -.
DR InParanoid; Q8VEJ4; -.
DR OMA; HINCLAW; -.
DR OrthoDB; 723347at2759; -.
DR PhylomeDB; Q8VEJ4; -.
DR TreeFam; TF300668; -.
DR BioGRID-ORCS; 217011; 22 hits in 64 CRISPR screens.
DR PRO; PR:Q8VEJ4; -.
DR Proteomes; UP000000589; Chromosome 11.
DR RNAct; Q8VEJ4; protein.
DR Bgee; ENSMUSG00000020692; Expressed in embryonic brain and 145 other tissues.
DR ExpressionAtlas; Q8VEJ4; baseline and differential.
DR Genevisible; Q8VEJ4; MM.
DR GO; GO:0005730; C:nucleolus; IDA:MGI.
DR GO; GO:0005654; C:nucleoplasm; ISO:MGI.
DR GO; GO:0061484; P:hematopoietic stem cell homeostasis; IMP:MGI.
DR GO; GO:0001826; P:inner cell mass cell differentiation; IMP:MGI.
DR GO; GO:0001822; P:kidney development; IMP:MGI.
DR GO; GO:0000278; P:mitotic cell cycle; IMP:MGI.
DR GO; GO:2001268; P:negative regulation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway; IMP:MGI.
DR GO; GO:0045930; P:negative regulation of mitotic cell cycle; IMP:MGI.
DR GO; GO:0007219; P:Notch signaling pathway; IDA:MGI.
DR GO; GO:0090263; P:positive regulation of canonical Wnt signaling pathway; IMP:MGI.
DR GO; GO:0000027; P:ribosomal large subunit assembly; IBA:GO_Central.
DR GO; GO:0042273; P:ribosomal large subunit biogenesis; IMP:MGI.
DR GO; GO:0048705; P:skeletal system morphogenesis; IMP:MGI.
DR GO; GO:0001756; P:somitogenesis; IMP:MGI.
DR Gene3D; 2.130.10.10; -; 1.
DR InterPro; IPR020472; G-protein_beta_WD-40_rep.
DR InterPro; IPR001632; Gprotein_B.
DR InterPro; IPR012972; NLE.
DR InterPro; IPR015943; WD40/YVTN_repeat-like_dom_sf.
DR InterPro; IPR001680; WD40_repeat.
DR InterPro; IPR019775; WD40_repeat_CS.
DR InterPro; IPR036322; WD40_repeat_dom_sf.
DR Pfam; PF08154; NLE; 1.
DR Pfam; PF00400; WD40; 7.
DR PRINTS; PR00319; GPROTEINB.
DR PRINTS; PR00320; GPROTEINBRPT.
DR SMART; SM00320; WD40; 8.
DR SUPFAM; SSF50978; SSF50978; 1.
DR PROSITE; PS00678; WD_REPEATS_1; 4.
DR PROSITE; PS50082; WD_REPEATS_2; 7.
DR PROSITE; PS50294; WD_REPEATS_REGION; 1.
PE 1: Evidence at protein level;
KW Acetylation; Notch signaling pathway; Nucleus; Phosphoprotein;
KW Reference proteome; Repeat; WD repeat.
FT INIT_MET 1
FT /note="Removed"
FT /evidence="ECO:0000250|UniProtKB:Q9NVX2"
FT CHAIN 2..485
FT /note="Notchless protein homolog 1"
FT /id="PRO_0000051099"
FT REPEAT 112..151
FT /note="WD 1"
FT REPEAT 154..193
FT /note="WD 2"
FT REPEAT 197..241
FT /note="WD 3"
FT REPEAT 244..282
FT /note="WD 4"
FT REPEAT 327..366
FT /note="WD 5"
FT REPEAT 370..409
FT /note="WD 6"
FT REPEAT 412..451
FT /note="WD 7"
FT REPEAT 454..484
FT /note="WD 8"
FT MOD_RES 2
FT /note="N-acetylalanine"
FT /evidence="ECO:0000250|UniProtKB:Q9NVX2"
FT MOD_RES 79
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:Q9NVX2"
FT MUTAGEN 163
FT /note="S->P: In l11Jus4; embryos survive through
FT implantation but fail prior to gastrulation."
FT /evidence="ECO:0000269|PubMed:23231322"
FT MUTAGEN 396
FT /note="I->S: In l11Jus1; embryos survive through
FT implantation but fail prior to gastrulation. Cdkna1
FT expression is up-regulated while expression of several Wnt
FT pathway members is down-regulated."
FT /evidence="ECO:0000269|PubMed:23231322"
FT CONFLICT 180
FT /note="V -> I (in Ref. 2; AAH18399)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 485 AA; 53134 MW; D0E7402BB0F44416 CRC64;
MAAAVVEEAA AGDVQRLLVQ FQDEGGQLLG SPFDVPVDIT PDKLQLVCNA LLAQEEPLPL
AFYVHDAEIV SSLGKTLESQ SVETEKIVDI IYQPQAVFRV RAVTRCTSSL EGHSEAVISV
AFSPTGKYLA SGSGDTTVRF WDLSTETPHF TCKGHRHWVL SISWSPDGKK LASGCKNGQV
LLWDPSTGLQ VGRTLTGHSK WITGLSWEPL HMNPECRYVA SSSKDGSVRV WDTTAGRCER
ILTGHTQSVT CLRWGGDGLL YSASQDRTIK VWRAHDGVLC RTLQGHGHWV NTMALSTDYA
LRTGAFEPAE ATVNAQDLQG SLKELKERAS SRYNLVRGQG PERLVSGSDD FTLFLWSPAE
DKKPLARMTG HQALINQVLF SPDSRIVASA SFDKSIKLWD GRTGKYLASL RGHVAAVYQI
AWSADSRLLV SGSSDSTLKV WDVKAQKLAT DLPGHADEVY AVDWSPDGQR VASGGKDKCL
RIWRR
