ID RUSD3_HUMAN Reviewed; 351 AA.
AC Q6P087; Q6P6A9; Q8N1B2; Q8NAV3;
DT 11-SEP-2007, integrated into UniProtKB/Swiss-Prot.
DT 20-APR-2010, sequence version 3.
DT 01-MAY-2013, entry version 67.
DE RecName: Full=RNA pseudouridylate synthase domain-containing protein 3;
GN Name=RPUSD3;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
OC Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
OC Catarrhini; Hominidae; Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16641997; DOI=10.1038/nature04728;
RA Muzny D.M., Scherer S.E., Kaul R., Wang J., Yu J., Sudbrak R.,
RA Buhay C.J., Chen R., Cree A., Ding Y., Dugan-Rocha S., Gill R.,
RA Gunaratne P., Harris R.A., Hawes A.C., Hernandez J., Hodgson A.V.,
RA Hume J., Jackson A., Khan Z.M., Kovar-Smith C., Lewis L.R.,
RA Lozado R.J., Metzker M.L., Milosavljevic A., Miner G.R., Morgan M.B.,
RA Nazareth L.V., Scott G., Sodergren E., Song X.-Z., Steffen D., Wei S.,
RA Wheeler D.A., Wright M.W., Worley K.C., Yuan Y., Zhang Z., Adams C.Q.,
RA Ansari-Lari M.A., Ayele M., Brown M.J., Chen G., Chen Z.,
RA Clendenning J., Clerc-Blankenburg K.P., Chen R., Chen Z., Davis C.,
RA Delgado O., Dinh H.H., Dong W., Draper H., Ernst S., Fu G.,
RA Gonzalez-Garay M.L., Garcia D.K., Gillett W., Gu J., Hao B.,
RA Haugen E., Havlak P., He X., Hennig S., Hu S., Huang W., Jackson L.R.,
RA Jacob L.S., Kelly S.H., Kube M., Levy R., Li Z., Liu B., Liu J.,
RA Liu W., Lu J., Maheshwari M., Nguyen B.-V., Okwuonu G.O., Palmeiri A.,
RA Pasternak S., Perez L.M., Phelps K.A., Plopper F.J., Qiang B.,
RA Raymond C., Rodriguez R., Saenphimmachak C., Santibanez J., Shen H.,
RA Shen Y., Subramanian S., Tabor P.E., Verduzco D., Waldron L., Wang J.,
RA Wang J., Wang Q., Williams G.A., Wong G.K.-S., Yao Z., Zhang J.,
RA Zhang X., Zhao G., Zhou J., Zhou Y., Nelson D., Lehrach H.,
RA Reinhardt R., Naylor S.L., Yang H., Olson M., Weinstock G.,
RA Gibbs R.A.;
RT "The DNA sequence, annotation and analysis of human chromosome 3.";
RL Nature 440:1194-1198(2006).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), NUCLEOTIDE
RP SEQUENCE [LARGE SCALE MRNA] OF 8-351 (ISOFORM 2), AND VARIANT HIS-34.
RC TISSUE=Bone marrow, Brain, and Eye;
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
RT project: the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 9-351 (ISOFORM 3).
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.,
RA Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M.,
RA Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y.,
RA Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M.,
RA Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K.,
RA Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S.,
RA Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J.,
RA Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y.,
RA Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N.,
RA Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S.,
RA 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.,
RA Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T.,
RA Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y.,
RA Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S.,
RA Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T.,
RA Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M.,
RA Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T.,
RA Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K.,
RA Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R.,
RA Nakai K., Yada T., Nakamura Y., Ohara O., 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 [4]
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.,
RA Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J.;
RT "Initial characterization of the human central proteome.";
RL BMC Syst. Biol. 5:17-17(2011).
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=3;
CC Name=1;
CC IsoId=Q6P087-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q6P087-2; Sequence=VSP_027870;
CC Name=3;
CC IsoId=Q6P087-3; Sequence=VSP_027869;
CC -!- SIMILARITY: Belongs to the pseudouridine synthase RluA family.
CC -!- CAUTION: It is uncertain whether Met-1 or Met-9 is the initiator.
CC -!- SEQUENCE CAUTION:
CC Sequence=AAH62362.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
CC Sequence=AAH65741.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
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DR EMBL; AC018809; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC032135; AAH32135.1; -; mRNA.
DR EMBL; BC062362; AAH62362.1; ALT_INIT; mRNA.
DR EMBL; BC065741; AAH65741.1; ALT_INIT; mRNA.
DR EMBL; AK092026; BAC03794.1; -; mRNA.
DR IPI; IPI00796048; -.
DR IPI; IPI00916988; -.
DR IPI; IPI01011982; -.
DR RefSeq; NP_001136019.1; NM_001142547.1.
DR RefSeq; NP_775930.2; NM_173659.3.
DR UniGene; Hs.33719; -.
DR ProteinModelPortal; Q6P087; -.
DR SMR; Q6P087; 90-281.
DR STRING; 9606.ENSP00000373331; -.
DR PhosphoSite; Q6P087; -.
DR DMDM; 294862493; -.
DR PaxDb; Q6P087; -.
DR PRIDE; Q6P087; -.
DR DNASU; 285367; -.
DR Ensembl; ENST00000383820; ENSP00000373331; ENSG00000156990.
DR Ensembl; ENST00000433535; ENSP00000398921; ENSG00000156990.
DR GeneID; 285367; -.
DR KEGG; hsa:285367; -.
DR UCSC; uc011atk.2; human.
DR UCSC; uc011atl.2; human.
DR CTD; 285367; -.
DR GeneCards; GC03M009879; -.
DR HGNC; HGNC:28437; RPUSD3.
DR HPA; HPA037552; -.
DR neXtProt; NX_Q6P087; -.
DR PharmGKB; PA134924883; -.
DR eggNOG; COG0564; -.
DR HOGENOM; HOG000082513; -.
DR HOVERGEN; HBG098171; -.
DR InParanoid; Q6P087; -.
DR OMA; FSRTLQC; -.
DR OrthoDB; EOG4R23VC; -.
DR GenomeRNAi; 285367; -.
DR NextBio; 95474; -.
DR ArrayExpress; Q6P087; -.
DR Bgee; Q6P087; -.
DR CleanEx; HS_RPUSD3; -.
DR Genevestigator; Q6P087; -.
DR GO; GO:0009982; F:pseudouridine synthase activity; IEA:InterPro.
DR GO; GO:0003723; F:RNA binding; IEA:InterPro.
DR GO; GO:0001522; P:pseudouridine synthesis; IEA:InterPro.
DR InterPro; IPR020103; PsdUridine_synth_cat_dom.
DR InterPro; IPR006145; PsdUridine_synth_RsuA/RluD.
DR Pfam; PF00849; PseudoU_synth_2; 1.
DR SUPFAM; SSF55120; PsdUridine_synth_cat_dom; 1.
DR PROSITE; PS01129; PSI_RLU; FALSE_NEG.
PE 1: Evidence at protein level;
KW Alternative splicing; Complete proteome; Polymorphism;
KW Reference proteome.
FT CHAIN 1 351 RNA pseudouridylate synthase domain-
FT containing protein 3.
FT /FTId=PRO_0000300822.
FT VAR_SEQ 89 103 Missing (in isoform 2).
FT /FTId=VSP_027870.
FT VAR_SEQ 137 351 Missing (in isoform 3).
FT /FTId=VSP_027869.
FT VARIANT 34 34 D -> H (in dbSNP:rs17855991).
FT /FTId=VAR_034885.
FT VARIANT 173 173 A -> P (in dbSNP:rs34244989).
FT /FTId=VAR_059763.
FT VARIANT 181 181 A -> P (in dbSNP:rs34244989).
FT /FTId=VAR_034886.
SQ SEQUENCE 351 AA; 38461 MW; 7C308C9C56AC5C4F CRC64;
MRAVLAREMD GRRVLGRFWS GWRRGLGVRP VPEDAGFGTE ARHQRQPRGS CQRSGPLGDQ
PFAGLLPKNL SREELVDALR AAVVDRKGPL VTLNKPQGLP VTGKPGELTL FSVLPELSQS
LGLREQELQV VRASGKESSG LVLLSSCPQT ASRLQKYFTH ARRAQRPTAT YCAVTDGIPA
ASEGKIQAAL KLEHIDGVNL TVPVKAPSRK DILEGVKKTL SHFRVVATGS GCALVQLQPL
TVFSSQLQVH MVLQLCPVLG DHMYSARVGT VLGQRFLLPA ENNKPQRQVL DEALLRRLHL
TPSQAAQLPL HLHLHRLLLP GTRARDTPVE LLAPLPPYFS RTLQCLGLRL Q
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