RUSD1_HUMAN
ID RUSD1_HUMAN Reviewed; 312 AA.
AC Q9UJJ7; D3DU66;
DT 11-SEP-2007, integrated into UniProtKB/Swiss-Prot.
DT 01-MAY-2000, sequence version 1.
DT 03-AUG-2022, entry version 144.
DE RecName: Full=RNA pseudouridylate synthase domain-containing protein 1;
DE AltName: Full=Ribosomal large subunit pseudouridine synthase C-like protein;
GN Name=RPUSD1; Synonyms=C16orf40, RLUCL;
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=11157797; DOI=10.1093/hmg/10.4.339;
RA Daniels R.J., Peden J.F., Lloyd C., Horsley S.W., Clark K., Tufarelli C.,
RA Kearney L., Buckle V.J., Doggett N.A., Flint J., Higgs D.R.;
RT "Sequence, structure and pathology of the fully annotated terminal 2 Mb of
RT the short arm of human chromosome 16.";
RL Hum. Mol. Genet. 10:339-352(2001).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15616553; DOI=10.1038/nature03187;
RA Martin J., Han C., Gordon L.A., Terry A., Prabhakar S., She X., Xie G.,
RA Hellsten U., Chan Y.M., Altherr M., Couronne O., Aerts A., Bajorek E.,
RA Black S., Blumer H., Branscomb E., Brown N.C., Bruno W.J., Buckingham J.M.,
RA Callen D.F., Campbell C.S., Campbell M.L., Campbell E.W., Caoile C.,
RA Challacombe J.F., Chasteen L.A., Chertkov O., Chi H.C., Christensen M.,
RA Clark L.M., Cohn J.D., Denys M., Detter J.C., Dickson M.,
RA Dimitrijevic-Bussod M., Escobar J., Fawcett J.J., Flowers D., Fotopulos D.,
RA Glavina T., Gomez M., Gonzales E., Goodstein D., Goodwin L.A., Grady D.L.,
RA Grigoriev I., Groza M., Hammon N., Hawkins T., Haydu L., Hildebrand C.E.,
RA Huang W., Israni S., Jett J., Jewett P.B., Kadner K., Kimball H.,
RA Kobayashi A., Krawczyk M.-C., Leyba T., Longmire J.L., Lopez F., Lou Y.,
RA Lowry S., Ludeman T., Manohar C.F., Mark G.A., McMurray K.L., Meincke L.J.,
RA Morgan J., Moyzis R.K., Mundt M.O., Munk A.C., Nandkeshwar R.D.,
RA Pitluck S., Pollard M., Predki P., Parson-Quintana B., Ramirez L., Rash S.,
RA Retterer J., Ricke D.O., Robinson D.L., Rodriguez A., Salamov A.,
RA Saunders E.H., Scott D., Shough T., Stallings R.L., Stalvey M.,
RA Sutherland R.D., Tapia R., Tesmer J.G., Thayer N., Thompson L.S., Tice H.,
RA Torney D.C., Tran-Gyamfi M., Tsai M., Ulanovsky L.E., Ustaszewska A.,
RA Vo N., White P.S., Williams A.L., Wills P.L., Wu J.-R., Wu K., Yang J.,
RA DeJong P., Bruce D., Doggett N.A., Deaven L., Schmutz J., Grimwood J.,
RA Richardson P., Rokhsar D.S., Eichler E.E., Gilna P., Lucas S.M.,
RA Myers R.M., Rubin E.M., Pennacchio L.A.;
RT "The sequence and analysis of duplication-rich human chromosome 16.";
RL Nature 432:988-994(2004).
RN [3]
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 (SEP-2005) to the EMBL/GenBank/DDBJ databases.
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC 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 [5]
RP ACETYLATION [LARGE SCALE ANALYSIS] AT MET-1, AND IDENTIFICATION BY MASS
RP SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=22814378; DOI=10.1073/pnas.1210303109;
RA Van Damme P., Lasa M., Polevoda B., Gazquez C., Elosegui-Artola A.,
RA Kim D.S., De Juan-Pardo E., Demeyer K., Hole K., Larrea E., Timmerman E.,
RA Prieto J., Arnesen T., Sherman F., Gevaert K., Aldabe R.;
RT "N-terminal acetylome analyses and functional insights of the N-terminal
RT acetyltransferase NatB.";
RL Proc. Natl. Acad. Sci. U.S.A. 109:12449-12454(2012).
CC -!- INTERACTION:
CC Q9UJJ7; Q7Z699: SPRED1; NbExp=3; IntAct=EBI-3922794, EBI-5235340;
CC -!- SIMILARITY: Belongs to the pseudouridine synthase RluA family.
CC {ECO:0000305}.
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DR EMBL; AE006465; AAK61255.1; -; Genomic_DNA.
DR EMBL; AL031033; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471112; EAW85712.1; -; Genomic_DNA.
DR EMBL; CH471112; EAW85713.1; -; Genomic_DNA.
DR EMBL; CH471112; EAW85715.1; -; Genomic_DNA.
DR EMBL; BC011783; AAH11783.1; -; mRNA.
DR CCDS; CCDS10426.1; -.
DR RefSeq; NP_478072.1; NM_058192.2.
DR PDB; 5VBB; X-ray; 1.94 A; A=1-261.
DR PDBsum; 5VBB; -.
DR AlphaFoldDB; Q9UJJ7; -.
DR SMR; Q9UJJ7; -.
DR BioGRID; 125221; 99.
DR IntAct; Q9UJJ7; 6.
DR STRING; 9606.ENSP00000455026; -.
DR iPTMnet; Q9UJJ7; -.
DR PhosphoSitePlus; Q9UJJ7; -.
DR BioMuta; RPUSD1; -.
DR DMDM; 74753357; -.
DR EPD; Q9UJJ7; -.
DR jPOST; Q9UJJ7; -.
DR MassIVE; Q9UJJ7; -.
DR MaxQB; Q9UJJ7; -.
DR PaxDb; Q9UJJ7; -.
DR PeptideAtlas; Q9UJJ7; -.
DR PRIDE; Q9UJJ7; -.
DR ProteomicsDB; 84627; -.
DR Antibodypedia; 22914; 72 antibodies from 14 providers.
DR DNASU; 113000; -.
DR Ensembl; ENST00000007264.7; ENSP00000007264.2; ENSG00000007376.8.
DR Ensembl; ENST00000561734.5; ENSP00000455026.1; ENSG00000007376.8.
DR GeneID; 113000; -.
DR KEGG; hsa:113000; -.
DR MANE-Select; ENST00000007264.7; ENSP00000007264.2; NM_058192.3; NP_478072.1.
DR UCSC; uc002cka.4; human.
DR CTD; 113000; -.
DR DisGeNET; 113000; -.
DR GeneCards; RPUSD1; -.
DR HGNC; HGNC:14173; RPUSD1.
DR HPA; ENSG00000007376; Low tissue specificity.
DR neXtProt; NX_Q9UJJ7; -.
DR OpenTargets; ENSG00000007376; -.
DR PharmGKB; PA25556; -.
DR VEuPathDB; HostDB:ENSG00000007376; -.
DR eggNOG; KOG1919; Eukaryota.
DR GeneTree; ENSGT00510000048339; -.
DR InParanoid; Q9UJJ7; -.
DR OMA; HVSQSRM; -.
DR OrthoDB; 821308at2759; -.
DR PhylomeDB; Q9UJJ7; -.
DR TreeFam; TF324755; -.
DR PathwayCommons; Q9UJJ7; -.
DR SignaLink; Q9UJJ7; -.
DR BioGRID-ORCS; 113000; 11 hits in 1075 CRISPR screens.
DR ChiTaRS; RPUSD1; human.
DR GenomeRNAi; 113000; -.
DR Pharos; Q9UJJ7; Tdark.
DR PRO; PR:Q9UJJ7; -.
DR Proteomes; UP000005640; Chromosome 16.
DR RNAct; Q9UJJ7; protein.
DR Bgee; ENSG00000007376; Expressed in pancreatic ductal cell and 138 other tissues.
DR ExpressionAtlas; Q9UJJ7; baseline and differential.
DR Genevisible; Q9UJJ7; HS.
DR GO; GO:0009982; F:pseudouridine synthase activity; IBA:GO_Central.
DR GO; GO:0003723; F:RNA binding; IEA:InterPro.
DR GO; GO:0000455; P:enzyme-directed rRNA pseudouridine synthesis; IBA:GO_Central.
DR CDD; cd02869; PseudoU_synth_RluA_like; 1.
DR InterPro; IPR020103; PsdUridine_synth_cat_dom_sf.
DR InterPro; IPR006145; PsdUridine_synth_RsuA/RluA.
DR Pfam; PF00849; PseudoU_synth_2; 1.
DR SUPFAM; SSF55120; SSF55120; 1.
PE 1: Evidence at protein level;
KW 3D-structure; Acetylation; Reference proteome.
FT CHAIN 1..312
FT /note="RNA pseudouridylate synthase domain-containing
FT protein 1"
FT /id="PRO_0000300816"
FT REGION 256..298
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 272..292
FT /note="Pro residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT ACT_SITE 67
FT /evidence="ECO:0000250"
FT MOD_RES 1
FT /note="N-acetylmethionine"
FT /evidence="ECO:0007744|PubMed:22814378"
FT VARIANT 124
FT /note="E -> Q (in dbSNP:rs2272898)"
FT /id="VAR_034883"
FT VARIANT 247
FT /note="L -> P (in dbSNP:rs3751672)"
FT /id="VAR_034884"
FT STRAND 10..14
FT /evidence="ECO:0007829|PDB:5VBB"
FT STRAND 16..23
FT /evidence="ECO:0007829|PDB:5VBB"
FT HELIX 40..47
FT /evidence="ECO:0007829|PDB:5VBB"
FT STRAND 61..64
FT /evidence="ECO:0007829|PDB:5VBB"
FT STRAND 71..79
FT /evidence="ECO:0007829|PDB:5VBB"
FT HELIX 80..91
FT /evidence="ECO:0007829|PDB:5VBB"
FT STRAND 96..105
FT /evidence="ECO:0007829|PDB:5VBB"
FT STRAND 109..114
FT /evidence="ECO:0007829|PDB:5VBB"
FT STRAND 118..124
FT /evidence="ECO:0007829|PDB:5VBB"
FT TURN 125..127
FT /evidence="ECO:0007829|PDB:5VBB"
FT STRAND 130..132
FT /evidence="ECO:0007829|PDB:5VBB"
FT STRAND 138..142
FT /evidence="ECO:0007829|PDB:5VBB"
FT STRAND 146..156
FT /evidence="ECO:0007829|PDB:5VBB"
FT STRAND 159..170
FT /evidence="ECO:0007829|PDB:5VBB"
FT HELIX 175..182
FT /evidence="ECO:0007829|PDB:5VBB"
FT TURN 191..193
FT /evidence="ECO:0007829|PDB:5VBB"
FT STRAND 202..205
FT /evidence="ECO:0007829|PDB:5VBB"
FT STRAND 208..216
FT /evidence="ECO:0007829|PDB:5VBB"
FT STRAND 221..225
FT /evidence="ECO:0007829|PDB:5VBB"
FT TURN 232..234
FT /evidence="ECO:0007829|PDB:5VBB"
FT STRAND 238..243
FT /evidence="ECO:0007829|PDB:5VBB"
FT HELIX 247..256
FT /evidence="ECO:0007829|PDB:5VBB"
SQ SEQUENCE 312 AA; 34756 MW; 0D4A31752A0D6AED CRC64;
MEPGSVENLS IVYRSRDFLV VNKHWDVRID SKAWRETLTL QKQLRYRFPE LADPDTCYGF
RFCHQLDFST SGALCVALNK AAAGSAYRCF KERRVTKAYL ALLRGHIQES RVTISHAIGR
NSTEGRAHTM CIEGSQGCEN PKPSLTDLVV LEHGLYAGDP VSKVLLKPLT GRTHQLRVHC
SALGHPVVGD LTYGEVSGRE DRPFRMMLHA FYLRIPTDTE CVEVCTPDPF LPSLDACWSP
HTLLQSLDQL VQALRATPDP DPEDRGPRPG SPSALLPGPG RPPPPPTKPP ETEAQRGPCL
QWLSEWTLEP DS
