NOL11_HUMAN
ID NOL11_HUMAN Reviewed; 719 AA.
AC Q9H8H0; B7Z5V9; Q7L5S1; Q9UG18;
DT 30-AUG-2005, integrated into UniProtKB/Swiss-Prot.
DT 01-MAR-2001, sequence version 1.
DT 03-AUG-2022, entry version 156.
DE RecName: Full=Nucleolar protein 11;
GN Name=NOL11; ORFNames=L14;
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 [MRNA] (ISOFORM 1).
RX PubMed=15334068; DOI=10.1038/sj.onc.1207921;
RA Petroziello J., Yamane A., Westendorf L., Thompson M., McDonagh C.,
RA Cerveny C., Law C.-L., Wahl A., Carter P.;
RT "Suppression subtractive hybridization and expression profiling identifies
RT a unique set of genes overexpressed in non-small-cell lung cancer.";
RL Oncogene 23:7734-7745(2004).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2).
RC TISSUE=Brain, and Placenta;
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 [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16625196; DOI=10.1038/nature04689;
RA Zody M.C., Garber M., Adams D.J., Sharpe T., Harrow J., Lupski J.R.,
RA Nicholson C., Searle S.M., Wilming L., Young S.K., Abouelleil A.,
RA Allen N.R., Bi W., Bloom T., Borowsky M.L., Bugalter B.E., Butler J.,
RA Chang J.L., Chen C.-K., Cook A., Corum B., Cuomo C.A., de Jong P.J.,
RA DeCaprio D., Dewar K., FitzGerald M., Gilbert J., Gibson R., Gnerre S.,
RA Goldstein S., Grafham D.V., Grocock R., Hafez N., Hagopian D.S., Hart E.,
RA Norman C.H., Humphray S., Jaffe D.B., Jones M., Kamal M., Khodiyar V.K.,
RA LaButti K., Laird G., Lehoczky J., Liu X., Lokyitsang T., Loveland J.,
RA Lui A., Macdonald P., Major J.E., Matthews L., Mauceli E., McCarroll S.A.,
RA Mihalev A.H., Mudge J., Nguyen C., Nicol R., O'Leary S.B., Osoegawa K.,
RA Schwartz D.C., Shaw-Smith C., Stankiewicz P., Steward C., Swarbreck D.,
RA Venkataraman V., Whittaker C.A., Yang X., Zimmer A.R., Bradley A.,
RA Hubbard T., Birren B.W., Rogers J., Lander E.S., Nusbaum C.;
RT "DNA sequence of human chromosome 17 and analysis of rearrangement in the
RT human lineage.";
RL Nature 440:1045-1049(2006).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC TISSUE=Lung, and Uterus;
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 [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 101-719, AND VARIANT ALA-115.
RC TISSUE=Uterus;
RX PubMed=17974005; DOI=10.1186/1471-2164-8-399;
RA Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U.,
RA Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D.,
RA Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A.,
RA Wiemann S., Schupp I.;
RT "The full-ORF clone resource of the German cDNA consortium.";
RL BMC Genomics 8:399-399(2007).
RN [6]
RP SUBCELLULAR LOCATION [LARGE SCALE ANALYSIS].
RC TISSUE=Cervix carcinoma;
RX PubMed=12429849; DOI=10.1091/mbc.e02-05-0271;
RA Scherl A., Coute Y., Deon C., Calle A., Kindbeiter K., Sanchez J.-C.,
RA Greco A., Hochstrasser D.F., Diaz J.-J.;
RT "Functional proteomic analysis of human nucleolus.";
RL Mol. Biol. Cell 13:4100-4109(2002).
RN [7]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=21269460; DOI=10.1186/1752-0509-5-17;
RA Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T.,
RA Bennett K.L., Superti-Furga G., Colinge J.;
RT "Initial characterization of the human central proteome.";
RL BMC Syst. Biol. 5:17-17(2011).
RN [8]
RP INTERACTION WITH UTP4 AND FBL, POSSIBLE ASSOCIATION WITH THE SSU PROCESSOME
RP T-UTP SUBCOMPLEX, SUBCELLULAR LOCATION, FUNCTION, AND CHARACTERIZATION AS
RP POSSIBLE FUNCTIONAL UTP8 ANALOG.
RX PubMed=22916032; DOI=10.1371/journal.pgen.1002892;
RA Freed E.F., Prieto J.L., McCann K.L., McStay B., Baserga S.J.;
RT "NOL11, implicated in the pathogenesis of North American Indian childhood
RT cirrhosis, is required for pre-rRNA transcription and processing.";
RL PLoS Genet. 8:E1002892-E1002892(2012).
RN [9]
RP METHYLATION [LARGE SCALE ANALYSIS] AT LYS-346, AND IDENTIFICATION BY MASS
RP SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Colon carcinoma;
RX PubMed=24129315; DOI=10.1074/mcp.o113.027870;
RA Guo A., Gu H., Zhou J., Mulhern D., Wang Y., Lee K.A., Yang V., Aguiar M.,
RA Kornhauser J., Jia X., Ren J., Beausoleil S.A., Silva J.C., Vemulapalli V.,
RA Bedford M.T., Comb M.J.;
RT "Immunoaffinity enrichment and mass spectrometry analysis of protein
RT methylation.";
RL Mol. Cell. Proteomics 13:372-387(2014).
CC -!- FUNCTION: Ribosome biogenesis factor. May be required for both optimal
CC rDNA transcription and small subunit (SSU) pre-rRNA processing at sites
CC A', A0, 1 and 2b. {ECO:0000269|PubMed:22916032}.
CC -!- SUBUNIT: Interacts with UTP4. Interacts with FBL/fibrillarin in a
CC transcription-dependent manner (PubMed:22916032). May associate with
CC the proposed t-UTP subcomplex of the SSU processome containing at least
CC UTP4, WDR43, HEATR1, UTP15, WDR75. {ECO:0000269|PubMed:22916032,
CC ECO:0000305}.
CC -!- INTERACTION:
CC Q9H8H0; Q969X6: UTP4; NbExp=6; IntAct=EBI-725885, EBI-2602591;
CC -!- SUBCELLULAR LOCATION: Nucleus, nucleolus {ECO:0000269|PubMed:12429849,
CC ECO:0000269|PubMed:22916032}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q9H8H0-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q9H8H0-2; Sequence=VSP_053283, VSP_053284;
CC -!- MISCELLANEOUS: Is the likely candidate for being the functional analog
CC of yeast Utp8. {ECO:0000305|PubMed:22916032}.
CC -!- MISCELLANEOUS: [Isoform 2]: May be produced at very low levels due to a
CC premature stop codon in the mRNA, leading to nonsense-mediated mRNA
CC decay. {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=BAH13045.1; Type=Erroneous translation; Note=Wrong choice of frame.; Evidence={ECO:0000305};
CC Sequence=CAB53709.1; Type=Frameshift; Evidence={ECO:0000305};
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DR EMBL; AY598333; AAT06744.1; -; mRNA.
DR EMBL; AK023702; BAB14647.1; -; mRNA.
DR EMBL; AK299483; BAH13045.1; ALT_SEQ; mRNA.
DR EMBL; AC006534; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC001726; AAH01726.2; -; mRNA.
DR EMBL; BC064404; AAH64404.1; -; mRNA.
DR EMBL; AL110271; CAB53709.1; ALT_FRAME; mRNA.
DR CCDS; CCDS11671.1; -. [Q9H8H0-1]
DR PIR; T14789; T14789.
DR RefSeq; NP_001290201.1; NM_001303272.1.
DR RefSeq; NP_056277.2; NM_015462.4. [Q9H8H0-1]
DR AlphaFoldDB; Q9H8H0; -.
DR SMR; Q9H8H0; -.
DR BioGRID; 117426; 95.
DR IntAct; Q9H8H0; 19.
DR MINT; Q9H8H0; -.
DR STRING; 9606.ENSP00000253247; -.
DR GlyGen; Q9H8H0; 1 site, 1 O-linked glycan (1 site).
DR iPTMnet; Q9H8H0; -.
DR PhosphoSitePlus; Q9H8H0; -.
DR SwissPalm; Q9H8H0; -.
DR BioMuta; NOL11; -.
DR DMDM; 73921238; -.
DR SWISS-2DPAGE; Q9H8H0; -.
DR EPD; Q9H8H0; -.
DR jPOST; Q9H8H0; -.
DR MassIVE; Q9H8H0; -.
DR MaxQB; Q9H8H0; -.
DR PaxDb; Q9H8H0; -.
DR PeptideAtlas; Q9H8H0; -.
DR PRIDE; Q9H8H0; -.
DR ProteomicsDB; 6723; -.
DR ProteomicsDB; 81208; -. [Q9H8H0-1]
DR Antibodypedia; 19207; 36 antibodies from 17 providers.
DR DNASU; 25926; -.
DR Ensembl; ENST00000253247.9; ENSP00000253247.4; ENSG00000130935.10. [Q9H8H0-1]
DR Ensembl; ENST00000581375.5; ENSP00000463219.1; ENSG00000130935.10. [Q9H8H0-2]
DR GeneID; 25926; -.
DR KEGG; hsa:25926; -.
DR MANE-Select; ENST00000253247.9; ENSP00000253247.4; NM_015462.5; NP_056277.2.
DR UCSC; uc002jgd.2; human. [Q9H8H0-1]
DR CTD; 25926; -.
DR DisGeNET; 25926; -.
DR GeneCards; NOL11; -.
DR HGNC; HGNC:24557; NOL11.
DR HPA; ENSG00000130935; Low tissue specificity.
DR MIM; 615366; gene.
DR neXtProt; NX_Q9H8H0; -.
DR OpenTargets; ENSG00000130935; -.
DR PharmGKB; PA142671258; -.
DR VEuPathDB; HostDB:ENSG00000130935; -.
DR eggNOG; ENOG502SB74; Eukaryota.
DR GeneTree; ENSGT00390000009760; -.
DR HOGENOM; CLU_025196_0_0_1; -.
DR InParanoid; Q9H8H0; -.
DR OMA; DTEKNQR; -.
DR OrthoDB; 570601at2759; -.
DR PhylomeDB; Q9H8H0; -.
DR TreeFam; TF325877; -.
DR PathwayCommons; Q9H8H0; -.
DR Reactome; R-HSA-6790901; rRNA modification in the nucleus and cytosol.
DR Reactome; R-HSA-6791226; Major pathway of rRNA processing in the nucleolus and cytosol.
DR SignaLink; Q9H8H0; -.
DR BioGRID-ORCS; 25926; 448 hits in 1045 CRISPR screens.
DR ChiTaRS; NOL11; human.
DR GenomeRNAi; 25926; -.
DR Pharos; Q9H8H0; Tbio.
DR PRO; PR:Q9H8H0; -.
DR Proteomes; UP000005640; Chromosome 17.
DR RNAct; Q9H8H0; protein.
DR Bgee; ENSG00000130935; Expressed in ventricular zone and 206 other tissues.
DR ExpressionAtlas; Q9H8H0; baseline and differential.
DR Genevisible; Q9H8H0; HS.
DR GO; GO:0005730; C:nucleolus; IDA:UniProtKB.
DR GO; GO:0005654; C:nucleoplasm; TAS:Reactome.
DR GO; GO:0034455; C:t-UTP complex; IDA:UniProtKB.
DR GO; GO:0003723; F:RNA binding; HDA:UniProtKB.
DR GO; GO:0030490; P:maturation of SSU-rRNA; IMP:UniProtKB.
DR GO; GO:1901838; P:positive regulation of transcription of nucleolar large rRNA by RNA polymerase I; IMP:UniProtKB.
DR InterPro; IPR042859; NOL11.
DR InterPro; IPR012584; NUC205.
DR InterPro; IPR036322; WD40_repeat_dom_sf.
DR PANTHER; PTHR15633; PTHR15633; 1.
DR Pfam; PF08168; NUC205; 1.
DR SUPFAM; SSF50978; SSF50978; 1.
PE 1: Evidence at protein level;
KW Activator; Alternative splicing; Methylation; Nucleus; Reference proteome;
KW Ribosome biogenesis; rRNA processing; Transcription;
KW Transcription regulation.
FT CHAIN 1..719
FT /note="Nucleolar protein 11"
FT /id="PRO_0000096931"
FT MOD_RES 346
FT /note="N6-methyllysine"
FT /evidence="ECO:0007744|PubMed:24129315"
FT VAR_SEQ 154..169
FT /note="KWTKFFVVFRHPVLIF -> NMEITLLTCKCLTHVS (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_053283"
FT VAR_SEQ 170..719
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_053284"
FT VARIANT 115
FT /note="V -> A (in dbSNP:rs2291284)"
FT /evidence="ECO:0000269|PubMed:17974005"
FT /id="VAR_051237"
SQ SEQUENCE 719 AA; 81124 MW; B794F7A2635453DF CRC64;
MAALEEEFTL SSVVLSAGPE GLLGVEQSDK TDQFLVTDSG RTVILYKVSD QKPLGSWSVK
QGQIITCPAV CNFQTGEYVV VHDNKVLRIW NNEDVNLDKV FKATLSAEVY RILSVQGTEP
LVLFKEGAVR GLEALLADPQ QKIETVISDE EVIKWTKFFV VFRHPVLIFI TEKHGNYFAY
VQMFNSRILT KYTLLLGQDE NSVIKSFTAS VDRKFISLMS LSSDGCIYET LIPIRPADPE
KNQSLVKSLL LKAVVSGNAR NGVALTALDQ DHVAVLGSPL AASKECLSVW NIKFQTLQTS
KELPQGTSGQ LWYYGEHLFM LHGKSLTVIP YKCEVSSLAG ALGKLKHSQD PGTHVVSHFV
NWETPQGCGL GFQNSEQSRR ILRRRKIEVS LQPEVPPSKQ LLSTIMKDSE KHIEVEVRKF
LALKQTPDFH TVIGDTVTGL LERCKAEPSF YPRNCLMQLI QTHVLSYSLC PDLMEIALKK
KDVQLLQLCL QQFPDIPESV TCACLKIFLS IGDDSLQETD VNMESVFDYS INSVHDEKME
EQTEILQNGF NPEEDKCNNC DQELNKKPQD ETKESTSCPV VQKRAALLNA ILHSAYSETF
LLPHLKDIPA QHITLFLKYL YFLYLKCSEN ATMTLPGIHP PTLNQIMDWI CLLLDANFTV
VVMMPEAKRL LINLYKLVKS QISVYSELNK IEVSFRELQK LNQEKNNRGL YSIEVLELF
