RBIS_HUMAN
ID RBIS_HUMAN Reviewed; 100 AA.
AC Q8N0T1; B2RXE7; E5RFW5;
DT 18-MAR-2008, integrated into UniProtKB/Swiss-Prot.
DT 14-MAY-2014, sequence version 4.
DT 03-AUG-2022, entry version 126.
DE RecName: Full=Ribosomal biogenesis factor {ECO:0000305};
GN Name=RBIS {ECO:0000312|HGNC:HGNC:32235}; Synonyms=C8orf59;
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 GENOMIC DNA].
RX PubMed=16421571; DOI=10.1038/nature04406;
RA Nusbaum C., Mikkelsen T.S., Zody M.C., Asakawa S., Taudien S., Garber M.,
RA Kodira C.D., Schueler M.G., Shimizu A., Whittaker C.A., Chang J.L.,
RA Cuomo C.A., Dewar K., FitzGerald M.G., Yang X., Allen N.R., Anderson S.,
RA Asakawa T., Blechschmidt K., Bloom T., Borowsky M.L., Butler J., Cook A.,
RA Corum B., DeArellano K., DeCaprio D., Dooley K.T., Dorris L. III,
RA Engels R., Gloeckner G., Hafez N., Hagopian D.S., Hall J.L., Ishikawa S.K.,
RA Jaffe D.B., Kamat A., Kudoh J., Lehmann R., Lokitsang T., Macdonald P.,
RA Major J.E., Matthews C.D., Mauceli E., Menzel U., Mihalev A.H.,
RA Minoshima S., Murayama Y., Naylor J.W., Nicol R., Nguyen C., O'Leary S.B.,
RA O'Neill K., Parker S.C.J., Polley A., Raymond C.K., Reichwald K.,
RA Rodriguez J., Sasaki T., Schilhabel M., Siddiqui R., Smith C.L.,
RA Sneddon T.P., Talamas J.A., Tenzin P., Topham K., Venkataraman V., Wen G.,
RA Yamazaki S., Young S.K., Zeng Q., Zimmer A.R., Rosenthal A., Birren B.W.,
RA Platzer M., Shimizu N., Lander E.S.;
RT "DNA sequence and analysis of human chromosome 8.";
RL Nature 439:331-335(2006).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M.,
RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA Hunkapiller M.W., Myers E.W., Venter J.C.;
RL Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases.
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2).
RC TISSUE=Blood;
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 ACETYLATION [LARGE SCALE ANALYSIS] AT LYS-21, AND IDENTIFICATION BY MASS
RP SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=19608861; DOI=10.1126/science.1175371;
RA Choudhary C., Kumar C., Gnad F., Nielsen M.L., Rehman M., Walther T.C.,
RA Olsen J.V., Mann M.;
RT "Lysine acetylation targets protein complexes and co-regulates major
RT cellular functions.";
RL Science 325:834-840(2009).
RN [5]
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 [6]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-19 AND SER-69, AND
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Cervix carcinoma, and Erythroleukemia;
RX PubMed=23186163; DOI=10.1021/pr300630k;
RA Zhou H., Di Palma S., Preisinger C., Peng M., Polat A.N., Heck A.J.,
RA Mohammed S.;
RT "Toward a comprehensive characterization of a human cancer cell
RT phosphoproteome.";
RL J. Proteome Res. 12:260-271(2013).
RN [7]
RP FUNCTION, SUBCELLULAR LOCATION, AND SUBUNIT.
RX PubMed=26711351; DOI=10.1016/j.celrep.2015.11.061;
RA Badertscher L., Wild T., Montellese C., Alexander L.T., Bammert L.,
RA Sarazova M., Stebler M., Csucs G., Mayer T.U., Zamboni N., Zemp I.,
RA Horvath P., Kutay U.;
RT "Genome-wide RNAi Screening Identifies Protein Modules Required for 40S
RT Subunit Synthesis in Human Cells.";
RL Cell Rep. 13:2879-2891(2015).
CC -!- FUNCTION: Trans-acting factor in ribosome biogenesis required for
CC efficient 40S and 60S subunit production.
CC {ECO:0000269|PubMed:26711351}.
CC -!- SUBUNIT: Associates with the pre-60S ribosomal particles.
CC {ECO:0000269|PubMed:26711351}.
CC -!- INTERACTION:
CC Q8N0T1-2; P62508-3: ESRRG; NbExp=3; IntAct=EBI-13380894, EBI-12001340;
CC -!- SUBCELLULAR LOCATION: Nucleus, nucleolus {ECO:0000269|PubMed:26711351}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q8N0T1-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q8N0T1-2; Sequence=VSP_032304;
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DR EMBL; AC011773; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471068; EAW87124.1; -; Genomic_DNA.
DR EMBL; BC032347; AAH32347.1; -; mRNA.
DR EMBL; BC146983; AAI46984.1; -; mRNA.
DR EMBL; BC146988; AAI46989.1; -; mRNA.
DR EMBL; BC157825; AAI57826.1; -; mRNA.
DR EMBL; BC062221; -; NOT_ANNOTATED_CDS; mRNA.
DR CCDS; CCDS55255.1; -. [Q8N0T1-1]
DR RefSeq; NP_001093140.1; NM_001099670.2. [Q8N0T1-1]
DR RefSeq; NP_001093141.1; NM_001099671.2. [Q8N0T1-1]
DR RefSeq; NP_001093142.1; NM_001099672.2. [Q8N0T1-1]
DR RefSeq; NP_001093143.1; NM_001099673.2. [Q8N0T1-1]
DR RefSeq; XP_011515830.1; XM_011517528.2. [Q8N0T1-1]
DR AlphaFoldDB; Q8N0T1; -.
DR SMR; Q8N0T1; -.
DR BioGRID; 135095; 8.
DR IntAct; Q8N0T1; 4.
DR MINT; Q8N0T1; -.
DR STRING; 9606.ENSP00000484492; -.
DR iPTMnet; Q8N0T1; -.
DR PhosphoSitePlus; Q8N0T1; -.
DR BioMuta; C8orf59; -.
DR DMDM; 519668681; -.
DR EPD; Q8N0T1; -.
DR jPOST; Q8N0T1; -.
DR MassIVE; Q8N0T1; -.
DR MaxQB; Q8N0T1; -.
DR PaxDb; Q8N0T1; -.
DR PeptideAtlas; Q8N0T1; -.
DR PRIDE; Q8N0T1; -.
DR ProteomicsDB; 15478; -.
DR ProteomicsDB; 71453; -. [Q8N0T1-1]
DR ProteomicsDB; 71454; -. [Q8N0T1-2]
DR TopDownProteomics; Q8N0T1-1; -. [Q8N0T1-1]
DR Antibodypedia; 59064; 39 antibodies from 9 providers.
DR DNASU; 401466; -.
DR Ensembl; ENST00000321777.5; ENSP00000319020.5; ENSG00000176731.12. [Q8N0T1-2]
DR Ensembl; ENST00000611854.4; ENSP00000484811.1; ENSG00000176731.12. [Q8N0T1-1]
DR Ensembl; ENST00000612809.4; ENSP00000481745.1; ENSG00000176731.12. [Q8N0T1-1]
DR Ensembl; ENST00000612977.4; ENSP00000484101.1; ENSG00000176731.12. [Q8N0T1-1]
DR Ensembl; ENST00000615697.4; ENSP00000482944.1; ENSG00000176731.12. [Q8N0T1-1]
DR Ensembl; ENST00000619594.5; ENSP00000484492.1; ENSG00000176731.12. [Q8N0T1-1]
DR GeneID; 401466; -.
DR KEGG; hsa:401466; -.
DR MANE-Select; ENST00000619594.5; ENSP00000484492.1; NM_001099673.3; NP_001093143.1.
DR UCSC; uc033bru.2; human. [Q8N0T1-1]
DR CTD; 401466; -.
DR GeneCards; RBIS; -.
DR HGNC; HGNC:32235; RBIS.
DR HPA; ENSG00000176731; Low tissue specificity.
DR neXtProt; NX_Q8N0T1; -.
DR OpenTargets; ENSG00000176731; -.
DR PharmGKB; PA142672322; -.
DR VEuPathDB; HostDB:ENSG00000176731; -.
DR eggNOG; ENOG502S982; Eukaryota.
DR GeneTree; ENSGT00390000015564; -.
DR HOGENOM; CLU_152931_0_0_1; -.
DR InParanoid; Q8N0T1; -.
DR OMA; AMKNEKV; -.
DR PhylomeDB; Q8N0T1; -.
DR TreeFam; TF330773; -.
DR PathwayCommons; Q8N0T1; -.
DR SignaLink; Q8N0T1; -.
DR BioGRID-ORCS; 401466; 45 hits in 648 CRISPR screens.
DR ChiTaRS; C8orf59; human.
DR GenomeRNAi; 401466; -.
DR Pharos; Q8N0T1; Tdark.
DR PRO; PR:Q8N0T1; -.
DR Proteomes; UP000005640; Chromosome 8.
DR RNAct; Q8N0T1; protein.
DR Bgee; ENSG00000176731; Expressed in epithelial cell of pancreas and 185 other tissues.
DR ExpressionAtlas; Q8N0T1; baseline and differential.
DR Genevisible; Q8N0T1; HS.
DR GO; GO:0005829; C:cytosol; IDA:HPA.
DR GO; GO:0005730; C:nucleolus; IDA:UniProtKB.
DR GO; GO:0005654; C:nucleoplasm; IDA:HPA.
DR GO; GO:0042254; P:ribosome biogenesis; IMP:UniProtKB.
DR InterPro; IPR031389; RBIS.
DR PANTHER; PTHR35544; PTHR35544; 1.
DR Pfam; PF15679; DUF4665; 1.
PE 1: Evidence at protein level;
KW Acetylation; Alternative splicing; Nucleus; Phosphoprotein;
KW Reference proteome.
FT CHAIN 1..100
FT /note="Ribosomal biogenesis factor"
FT /id="PRO_0000324604"
FT MOD_RES 19
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:23186163"
FT MOD_RES 21
FT /note="N6-acetyllysine"
FT /evidence="ECO:0007744|PubMed:19608861"
FT MOD_RES 69
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:23186163"
FT VAR_SEQ 39..100
FT /note="INIMNEEKVNRVNKAFVNVQKELAHFAKSISLEPLQKELIPQQRHESKPVNV
FT DEATRLMALL -> VLHFS (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_032304"
FT CONFLICT 74
FT /note="Q -> L (in Ref. 3; BC062221)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 100 AA; 11456 MW; 37D727E9E8A27034 CRC64;
MAKNKLRGPK SRNVFHIASQ KNFKAKNKAK PVTTNLKKIN IMNEEKVNRV NKAFVNVQKE
LAHFAKSISL EPLQKELIPQ QRHESKPVNV DEATRLMALL
