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   27-MAR-2024, entry version 152.
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; 9606-ENSP00000455026; -.
DR   PeptideAtlas; Q9UJJ7; -.
DR   ProteomicsDB; 84627; -.
DR   Pumba; Q9UJJ7; -.
DR   Antibodypedia; 22914; 84 antibodies from 15 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   AGR; HGNC:14173; -.
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; FGTSGIM; -.
DR   OrthoDB; 5479603at2759; -.
DR   PhylomeDB; Q9UJJ7; -.
DR   TreeFam; TF324755; -.
DR   PathwayCommons; Q9UJJ7; -.
DR   SignaLink; Q9UJJ7; -.
DR   BioGRID-ORCS; 113000; 14 hits in 1152 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 140 other cell types or tissues.
DR   ExpressionAtlas; Q9UJJ7; baseline and differential.
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   Gene3D; 3.30.2350.10; Pseudouridine synthase; 1.
DR   InterPro; IPR020103; PsdUridine_synth_cat_dom_sf.
DR   InterPro; IPR006145; PsdUridine_synth_RsuA/RluA.
DR   PANTHER; PTHR21600; MITOCHONDRIAL RNA PSEUDOURIDINE SYNTHASE; 1.
DR   PANTHER; PTHR21600:SF100; RNA PSEUDOURIDYLATE SYNTHASE DOMAIN-CONTAINING PROTEIN 1; 1.
DR   Pfam; PF00849; PseudoU_synth_2; 1.
DR   SUPFAM; SSF55120; Pseudouridine synthase; 1.
DR   Genevisible; Q9UJJ7; HS.
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
//