URB2_HUMAN
ID URB2_HUMAN Reviewed; 1524 AA.
AC Q14146; Q5VYC9;
DT 01-NOV-1997, integrated into UniProtKB/Swiss-Prot.
DT 14-OCT-2008, sequence version 2.
DT 03-AUG-2022, entry version 153.
DE RecName: Full=Unhealthy ribosome biogenesis protein 2 homolog;
GN Name=URB2; Synonyms=KIAA0133;
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=Bone marrow;
RX PubMed=8590280; DOI=10.1093/dnares/2.4.167;
RA Nagase T., Seki N., Tanaka A., Ishikawa K., Nomura N.;
RT "Prediction of the coding sequences of unidentified human genes. IV. The
RT coding sequences of 40 new genes (KIAA0121-KIAA0160) deduced by analysis of
RT cDNA clones from human cell line KG-1.";
RL DNA Res. 2:167-174(1995).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16710414; DOI=10.1038/nature04727;
RA Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A.,
RA Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C.,
RA Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K.,
RA Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C.,
RA Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W.,
RA Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J.,
RA Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J.,
RA Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y.,
RA Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J.,
RA Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H.,
RA Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L.,
RA Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J.,
RA Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S.,
RA Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K.,
RA Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R.,
RA Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M.,
RA Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S.,
RA Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J.,
RA Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W.,
RA McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N.,
RA Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V.,
RA Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J.,
RA Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E.,
RA Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S.,
RA Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M.,
RA White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H.,
RA Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E.,
RA Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G.,
RA Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R.;
RT "The DNA sequence and biological annotation of human chromosome 1.";
RL Nature 441:315-321(2006).
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 IDENTIFICATION BY MASS SPECTROMETRY, AND SUBCELLULAR LOCATION [LARGE SCALE
RP ANALYSIS].
RX PubMed=15635413; DOI=10.1038/nature03207;
RA Andersen J.S., Lam Y.W., Leung A.K.L., Ong S.-E., Lyon C.E., Lamond A.I.,
RA Mann M.;
RT "Nucleolar proteome dynamics.";
RL Nature 433:77-83(2005).
CC -!- FUNCTION: Essential for hematopietic stem cell development through the
CC regulation of p53/TP53 pathway. {ECO:0000250|UniProtKB:B0V0U5}.
CC -!- SUBCELLULAR LOCATION: Nucleus, nucleolus {ECO:0000269|PubMed:15635413}.
CC -!- SEQUENCE CAUTION:
CC Sequence=BAA09482.3; Type=Erroneous initiation; Evidence={ECO:0000305};
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DR EMBL; D50923; BAA09482.3; ALT_INIT; mRNA.
DR EMBL; AL354983; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AL121990; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC114559; AAI14560.1; -; mRNA.
DR EMBL; BC114963; AAI14964.1; -; mRNA.
DR CCDS; CCDS31052.1; -.
DR RefSeq; NP_001300950.1; NM_001314021.1.
DR RefSeq; NP_055592.2; NM_014777.3.
DR AlphaFoldDB; Q14146; -.
DR BioGRID; 115155; 106.
DR IntAct; Q14146; 30.
DR STRING; 9606.ENSP00000258243; -.
DR CarbonylDB; Q14146; -.
DR iPTMnet; Q14146; -.
DR PhosphoSitePlus; Q14146; -.
DR SwissPalm; Q14146; -.
DR BioMuta; URB2; -.
DR DMDM; 209572635; -.
DR EPD; Q14146; -.
DR jPOST; Q14146; -.
DR MassIVE; Q14146; -.
DR MaxQB; Q14146; -.
DR PaxDb; Q14146; -.
DR PeptideAtlas; Q14146; -.
DR PRIDE; Q14146; -.
DR ProteomicsDB; 59850; -.
DR Antibodypedia; 1890; 77 antibodies from 17 providers.
DR DNASU; 9816; -.
DR Ensembl; ENST00000258243.7; ENSP00000258243.2; ENSG00000135763.10.
DR GeneID; 9816; -.
DR KEGG; hsa:9816; -.
DR MANE-Select; ENST00000258243.7; ENSP00000258243.2; NM_014777.4; NP_055592.2.
DR UCSC; uc001hts.1; human.
DR CTD; 9816; -.
DR DisGeNET; 9816; -.
DR GeneCards; URB2; -.
DR HGNC; HGNC:28967; URB2.
DR HPA; ENSG00000135763; Low tissue specificity.
DR MIM; 619372; gene.
DR neXtProt; NX_Q14146; -.
DR OpenTargets; ENSG00000135763; -.
DR PharmGKB; PA164727496; -.
DR VEuPathDB; HostDB:ENSG00000135763; -.
DR eggNOG; ENOG502QWBH; Eukaryota.
DR GeneTree; ENSGT00390000009258; -.
DR HOGENOM; CLU_251606_0_0_1; -.
DR InParanoid; Q14146; -.
DR OMA; CYLSVQR; -.
DR OrthoDB; 727255at2759; -.
DR PhylomeDB; Q14146; -.
DR TreeFam; TF328770; -.
DR PathwayCommons; Q14146; -.
DR SignaLink; Q14146; -.
DR BioGRID-ORCS; 9816; 573 hits in 1083 CRISPR screens.
DR ChiTaRS; URB2; human.
DR GenomeRNAi; 9816; -.
DR Pharos; Q14146; Tbio.
DR PRO; PR:Q14146; -.
DR Proteomes; UP000005640; Chromosome 1.
DR RNAct; Q14146; protein.
DR Bgee; ENSG00000135763; Expressed in gastrocnemius and 125 other tissues.
DR ExpressionAtlas; Q14146; baseline and differential.
DR Genevisible; Q14146; HS.
DR GO; GO:0016235; C:aggresome; IDA:HPA.
DR GO; GO:0030496; C:midbody; IDA:HGNC.
DR GO; GO:0005730; C:nucleolus; IDA:HPA.
DR GO; GO:1901796; P:regulation of signal transduction by p53 class mediator; ISS:UniProtKB.
DR GO; GO:0042254; P:ribosome biogenesis; IBA:GO_Central.
DR InterPro; IPR018849; Urb2/Npa2_C.
DR Pfam; PF10441; Urb2; 1.
PE 1: Evidence at protein level;
KW Nucleus; Reference proteome.
FT CHAIN 1..1524
FT /note="Unhealthy ribosome biogenesis protein 2 homolog"
FT /id="PRO_0000050720"
FT VARIANT 778
FT /note="V -> G (in dbSNP:rs3811473)"
FT /id="VAR_034031"
FT VARIANT 1400
FT /note="V -> M (in dbSNP:rs12142450)"
FT /id="VAR_046975"
SQ SEQUENCE 1524 AA; 170544 MW; D27CFF42B0892679 CRC64;
MAAVYSGISL KLKSKTTSWE DKLKLAHFAW ISHQCFLPNK EQVLLDWARQ SLVAFYKKKL
ELKEDIVERL WIYIDNILHS RKLQNLLKNG KTINLQISLV KIINERVAEF SLSGSQRNIC
AVLRCCQGIL STPALAVIYT AKQELMVALL SQLCWSACRQ PEGAVVAQLF EVIHLALGHY
LLILQQQVNP RRAFGDVTAH LLQPCLVLRH LLSGGTWTQA GQGQLRQVLS RDIRSQIEAM
FRGGIFQPEL LSSYKEGLLD QQQGDVKTGA MKNLLAPMDT VLNRLVDAGY CAASLHTSVV
ANSVALLYKL FLDSYFKEGN QLLCFQVLPR LFGCLKISHL QEEQSKALST SDWTTELLVV
EQLLNSVANN NIYNIAADRI RHEEAQFRFY RHVAELLINH AQAPIPAWFR CLKTLISLNH
LILEPDLDDL LASAWIDAEV TEFRTKKAQE ALIRTVFQTY AKLRQVPRLF EEVLGVICRP
AAEALRQPVL ASGPSTVLSA CLLELPPSQI LDTWSLVLEK FQSLVLPYLQ SDADMALKSL
SLSLLLHCIM FNMRSLDSST PLPIVRRTQC MMERMMRELV QPLLALLPDT PGPEPELWLQ
KVSDSVLLLS YTWAQVDAMF SLNCSQYHSM SGPLIGVALE ISNLPSLLPG VKTQHWKKIE
KFTAQFSSLG TYCLEQLYLQ KMKRTLMQTS FRSEGAIQSL RCDAAFIIGS GRKSLNQRTT
ASWDGQVGMV SGLTYPVAHW HLIVSNLTIL ISYLCPDDVG YLASVLLRTL PMGKAQEVSI
DEEAYITLEK ISKAFLHSPL FPEMQSLHSA FLTCVTTSCS SILCSGAQRD SGLVSQQLPW
LFEKDHMVVG HWENRFAKAG PEGIEPRGEI AQNLLSLVKS DFPIQLEGEQ LESILGLLEV
ISALQLDSLL PPYHVHYFLV LLSMAVTKLG CSCSSSLALK FLTTCYQLLG YLQKGKSARS
VFKIMYGSDI FEVVLTSLFR ASSRFLIEMD DPAWLEFLQV IGTFLEELMQ MLIQMKLSLV
LNFRKITAFL SSSKPYTEAA SSKQLENQNP QGRQLLLVSL TRLCHVLGPF LKEQKLGQEA
PAALSELLQQ VVLQTGAVLQ LCSVPGARGW RLPSVLISSV STLLEADLGQ HCRDGGADIS
QGSDRTLLSH VALYQGVYSQ ILLELPALAG HDQSFQAALQ FLTLFFLAPE LHPKKDSVFT
SMFHSVRRVL ADPEIPVQVT QDIEPHLGAL FTQMLEVGTT EDLRLVMQCI LQGLDVSNMW
KADVQAVVSA VTLLRLLLNC PLSGEKASLL WRACPQIVTA LTLLNREASQ EQPVSLTVVG
PVLDVLAALL RQGEEAIGNP HHVSLAFSIL LTVPLDHLKP LEYGSVFPRL HNVLFSILQC
HPKVMLKAIP SFLNSFNRLV FSVMREGRQK DKGSIDDLPT VLKCARLVER MYSHIAARAE
EFAVFSPFMV AQYVLEVQKV TLYPAVKSLL QEGIYLILDL CIEPDVQFLR ASLQPGMRDI
FKELYNDYLK YHKAKHEGEK RYTA