ID   PUS7L_HUMAN             Reviewed;         701 AA.
AC   Q9H0K6; B3KUJ1; Q05CU0; Q6AHZ3; Q6NUP2;
DT   05-FEB-2008, integrated into UniProtKB/Swiss-Prot.
DT   01-MAR-2001, sequence version 1.
DT   27-MAR-2024, entry version 163.
DE   RecName: Full=Pseudouridylate synthase PUS7L {ECO:0000305};
DE            EC=5.4.99.- {ECO:0000269|PubMed:35051350};
DE   AltName: Full=Pseudouridylate synthase 7 homolog-like protein {ECO:0000305};
GN   Name=PUS7L {ECO:0000303|PubMed:35051350, ECO:0000312|HGNC:HGNC:25276};
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] (ISOFORM 1).
RC   TISSUE=Testis;
RX   PubMed=11230166; DOI=10.1101/gr.gr1547r;
RA   Wiemann S., Weil B., Wellenreuther R., Gassenhuber J., Glassl S.,
RA   Ansorge W., Boecher M., Bloecker H., Bauersachs S., Blum H., Lauber J.,
RA   Duesterhoeft A., Beyer A., Koehrer K., Strack N., Mewes H.-W.,
RA   Ottenwaelder B., Obermaier B., Tampe J., Heubner D., Wambutt R., Korn B.,
RA   Klein M., Poustka A.;
RT   "Towards a catalog of human genes and proteins: sequencing and analysis of
RT   500 novel complete protein coding human cDNAs.";
RL   Genome Res. 11:422-435(2001).
RN   [2]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
RC   TISSUE=Stomach;
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., Sudo H.,
RA   Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA   Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA   Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA   Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA   Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA   Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA   Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA   Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA   Aotsuka S., 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., Fujimori Y.,
RA   Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA   Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA   Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA   Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA   Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA   Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA   Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA   Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA   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   [3]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), AND VARIANT GLU-264.
RC   TISSUE=Seminoma;
RX   PubMed=17974005; DOI=10.1186/1471-2164-8-399;
RA   Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U.,
RA   Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D.,
RA   Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A.,
RA   Wiemann S., Schupp I.;
RT   "The full-ORF clone resource of the German cDNA consortium.";
RL   BMC Genomics 8:399-399(2007).
RN   [4]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX   PubMed=16541075; DOI=10.1038/nature04569;
RA   Scherer S.E., Muzny D.M., Buhay C.J., Chen R., Cree A., Ding Y.,
RA   Dugan-Rocha S., Gill R., Gunaratne P., Harris R.A., Hawes A.C.,
RA   Hernandez J., Hodgson A.V., Hume J., Jackson A., Khan Z.M., Kovar-Smith C.,
RA   Lewis L.R., Lozado R.J., Metzker M.L., Milosavljevic A., Miner G.R.,
RA   Montgomery K.T., Morgan M.B., Nazareth L.V., Scott G., Sodergren E.,
RA   Song X.-Z., Steffen D., Lovering R.C., Wheeler D.A., Worley K.C., Yuan Y.,
RA   Zhang Z., Adams C.Q., Ansari-Lari M.A., Ayele M., Brown M.J., Chen G.,
RA   Chen Z., Clerc-Blankenburg K.P., Davis C., Delgado O., Dinh H.H.,
RA   Draper H., Gonzalez-Garay M.L., Havlak P., Jackson L.R., Jacob L.S.,
RA   Kelly S.H., Li L., Li Z., Liu J., Liu W., Lu J., Maheshwari M.,
RA   Nguyen B.-V., Okwuonu G.O., Pasternak S., Perez L.M., Plopper F.J.H.,
RA   Santibanez J., Shen H., Tabor P.E., Verduzco D., Waldron L., Wang Q.,
RA   Williams G.A., Zhang J., Zhou J., Allen C.C., Amin A.G., Anyalebechi V.,
RA   Bailey M., Barbaria J.A., Bimage K.E., Bryant N.P., Burch P.E.,
RA   Burkett C.E., Burrell K.L., Calderon E., Cardenas V., Carter K., Casias K.,
RA   Cavazos I., Cavazos S.R., Ceasar H., Chacko J., Chan S.N., Chavez D.,
RA   Christopoulos C., Chu J., Cockrell R., Cox C.D., Dang M., Dathorne S.R.,
RA   David R., Davis C.M., Davy-Carroll L., Deshazo D.R., Donlin J.E.,
RA   D'Souza L., Eaves K.A., Egan A., Emery-Cohen A.J., Escotto M., Flagg N.,
RA   Forbes L.D., Gabisi A.M., Garza M., Hamilton C., Henderson N.,
RA   Hernandez O., Hines S., Hogues M.E., Huang M., Idlebird D.G., Johnson R.,
RA   Jolivet A., Jones S., Kagan R., King L.M., Leal B., Lebow H., Lee S.,
RA   LeVan J.M., Lewis L.C., London P., Lorensuhewa L.M., Loulseged H.,
RA   Lovett D.A., Lucier A., Lucier R.L., Ma J., Madu R.C., Mapua P.,
RA   Martindale A.D., Martinez E., Massey E., Mawhiney S., Meador M.G.,
RA   Mendez S., Mercado C., Mercado I.C., Merritt C.E., Miner Z.L., Minja E.,
RA   Mitchell T., Mohabbat F., Mohabbat K., Montgomery B., Moore N., Morris S.,
RA   Munidasa M., Ngo R.N., Nguyen N.B., Nickerson E., Nwaokelemeh O.O.,
RA   Nwokenkwo S., Obregon M., Oguh M., Oragunye N., Oviedo R.J., Parish B.J.,
RA   Parker D.N., Parrish J., Parks K.L., Paul H.A., Payton B.A., Perez A.,
RA   Perrin W., Pickens A., Primus E.L., Pu L.-L., Puazo M., Quiles M.M.,
RA   Quiroz J.B., Rabata D., Reeves K., Ruiz S.J., Shao H., Sisson I.,
RA   Sonaike T., Sorelle R.P., Sutton A.E., Svatek A.F., Svetz L.A.,
RA   Tamerisa K.S., Taylor T.R., Teague B., Thomas N., Thorn R.D., Trejos Z.Y.,
RA   Trevino B.K., Ukegbu O.N., Urban J.B., Vasquez L.I., Vera V.A.,
RA   Villasana D.M., Wang L., Ward-Moore S., Warren J.T., Wei X., White F.,
RA   Williamson A.L., Wleczyk R., Wooden H.S., Wooden S.H., Yen J., Yoon L.,
RA   Yoon V., Zorrilla S.E., Nelson D., Kucherlapati R., Weinstock G.,
RA   Gibbs R.A.;
RT   "The finished DNA sequence of human chromosome 12.";
RL   Nature 440:346-351(2006).
RN   [5]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC   TISSUE=Brain, and Prostate;
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   [6]
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   [7]
RP   PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-79, AND IDENTIFICATION BY
RP   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   [8]
RP   FUNCTION, AND CATALYTIC ACTIVITY.
RX   PubMed=35051350; DOI=10.1016/j.molcel.2021.12.023;
RA   Martinez N.M., Su A., Burns M.C., Nussbacher J.K., Schaening C., Sathe S.,
RA   Yeo G.W., Gilbert W.V.;
RT   "Pseudouridine synthases modify human pre-mRNA co-transcriptionally and
RT   affect pre-mRNA processing.";
RL   Mol. Cell 82:645-659(2022).
CC   -!- FUNCTION: Pseudouridine synthase that catalyzes pseudouridylation of
CC       mRNAs. {ECO:0000269|PubMed:35051350}.
CC   -!- CATALYTIC ACTIVITY:
CC       Reaction=a uridine in mRNA = a pseudouridine in mRNA;
CC         Xref=Rhea:RHEA:56644, Rhea:RHEA-COMP:14658, Rhea:RHEA-COMP:14659,
CC         ChEBI:CHEBI:65314, ChEBI:CHEBI:65315;
CC         Evidence={ECO:0000269|PubMed:35051350};
CC   -!- INTERACTION:
CC       Q9H0K6; P14373: TRIM27; NbExp=7; IntAct=EBI-5464419, EBI-719493;
CC       Q9H0K6; Q8WV44: TRIM41; NbExp=3; IntAct=EBI-5464419, EBI-725997;
CC   -!- ALTERNATIVE PRODUCTS:
CC       Event=Alternative splicing; Named isoforms=2;
CC       Name=1;
CC         IsoId=Q9H0K6-1; Sequence=Displayed;
CC       Name=2;
CC         IsoId=Q9H0K6-2; Sequence=VSP_054568;
CC   -!- SIMILARITY: Belongs to the pseudouridine synthase TruD family.
CC       {ECO:0000305}.
CC   -!- SEQUENCE CAUTION:
CC       Sequence=AAH20781.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305};
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DR   EMBL; AL136759; CAB66693.1; -; mRNA.
DR   EMBL; AK097331; BAG53453.1; -; mRNA.
DR   EMBL; AC016143; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   EMBL; AC093012; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   EMBL; CR627435; CAH10521.1; -; mRNA.
DR   EMBL; BC020781; AAH20781.1; ALT_TERM; mRNA.
DR   EMBL; BC033621; AAH33621.1; -; mRNA.
DR   EMBL; BC068502; AAH68502.1; -; mRNA.
DR   CCDS; CCDS61104.1; -. [Q9H0K6-2]
DR   CCDS; CCDS8743.1; -. [Q9H0K6-1]
DR   RefSeq; NP_001092084.1; NM_001098614.2. [Q9H0K6-1]
DR   RefSeq; NP_001092085.1; NM_001098615.1. [Q9H0K6-1]
DR   RefSeq; NP_001258755.1; NM_001271826.1. [Q9H0K6-2]
DR   RefSeq; NP_112582.3; NM_031292.4. [Q9H0K6-1]
DR   AlphaFoldDB; Q9H0K6; -.
DR   SMR; Q9H0K6; -.
DR   BioGRID; 123650; 13.
DR   IntAct; Q9H0K6; 5.
DR   STRING; 9606.ENSP00000343081; -.
DR   GlyGen; Q9H0K6; 1 site, 1 O-linked glycan (1 site).
DR   iPTMnet; Q9H0K6; -.
DR   PhosphoSitePlus; Q9H0K6; -.
DR   BioMuta; PUS7L; -.
DR   DMDM; 74733527; -.
DR   EPD; Q9H0K6; -.
DR   jPOST; Q9H0K6; -.
DR   MassIVE; Q9H0K6; -.
DR   MaxQB; Q9H0K6; -.
DR   PaxDb; 9606-ENSP00000415899; -.
DR   PeptideAtlas; Q9H0K6; -.
DR   ProteomicsDB; 80292; -. [Q9H0K6-1]
DR   Pumba; Q9H0K6; -.
DR   Antibodypedia; 25131; 67 antibodies from 15 providers.
DR   DNASU; 83448; -.
DR   Ensembl; ENST00000344862.10; ENSP00000343081.5; ENSG00000129317.15. [Q9H0K6-1]
DR   Ensembl; ENST00000416848.6; ENSP00000415899.2; ENSG00000129317.15. [Q9H0K6-1]
DR   Ensembl; ENST00000431332.7; ENSP00000398497.3; ENSG00000129317.15. [Q9H0K6-2]
DR   Ensembl; ENST00000551923.5; ENSP00000447706.1; ENSG00000129317.15. [Q9H0K6-1]
DR   GeneID; 83448; -.
DR   KEGG; hsa:83448; -.
DR   MANE-Select; ENST00000344862.10; ENSP00000343081.5; NM_031292.5; NP_112582.3.
DR   UCSC; uc001rnq.7; human. [Q9H0K6-1]
DR   AGR; HGNC:25276; -.
DR   CTD; 83448; -.
DR   DisGeNET; 83448; -.
DR   GeneCards; PUS7L; -.
DR   HGNC; HGNC:25276; PUS7L.
DR   HPA; ENSG00000129317; Low tissue specificity.
DR   neXtProt; NX_Q9H0K6; -.
DR   OpenTargets; ENSG00000129317; -.
DR   PharmGKB; PA143485588; -.
DR   VEuPathDB; HostDB:ENSG00000129317; -.
DR   eggNOG; KOG2339; Eukaryota.
DR   GeneTree; ENSGT00530000063554; -.
DR   HOGENOM; CLU_005281_1_1_1; -.
DR   InParanoid; Q9H0K6; -.
DR   OMA; IKIEDNH; -.
DR   OrthoDB; 168195at2759; -.
DR   PhylomeDB; Q9H0K6; -.
DR   TreeFam; TF314278; -.
DR   PathwayCommons; Q9H0K6; -.
DR   SignaLink; Q9H0K6; -.
DR   BioGRID-ORCS; 83448; 10 hits in 1153 CRISPR screens.
DR   ChiTaRS; PUS7L; human.
DR   GeneWiki; PUS7L; -.
DR   GenomeRNAi; 83448; -.
DR   Pharos; Q9H0K6; Tdark.
DR   PRO; PR:Q9H0K6; -.
DR   Proteomes; UP000005640; Chromosome 12.
DR   RNAct; Q9H0K6; Protein.
DR   Bgee; ENSG00000129317; Expressed in calcaneal tendon and 188 other cell types or tissues.
DR   ExpressionAtlas; Q9H0K6; baseline and differential.
DR   GO; GO:0005634; C:nucleus; IBA:GO_Central.
DR   GO; GO:0009982; F:pseudouridine synthase activity; IDA:UniProtKB.
DR   GO; GO:0003723; F:RNA binding; IEA:InterPro.
DR   GO; GO:0006397; P:mRNA processing; IEA:UniProtKB-KW.
DR   GO; GO:1990481; P:mRNA pseudouridine synthesis; IDA:UniProtKB.
DR   GO; GO:0001522; P:pseudouridine synthesis; IBA:GO_Central.
DR   CDD; cd02576; PseudoU_synth_ScPUS7; 1.
DR   Gene3D; 3.30.2350.20; TruD, catalytic domain; 2.
DR   InterPro; IPR020103; PsdUridine_synth_cat_dom_sf.
DR   InterPro; IPR001656; PsdUridine_synth_TruD.
DR   InterPro; IPR011760; PsdUridine_synth_TruD_insert.
DR   InterPro; IPR042214; TruD_catalytic.
DR   NCBIfam; TIGR00094; tRNA_TruD_broad; 1.
DR   PANTHER; PTHR13326:SF21; PSEUDOURIDYLATE SYNTHASE PUS7L; 1.
DR   PANTHER; PTHR13326; TRNA PSEUDOURIDINE SYNTHASE D; 1.
DR   Pfam; PF01142; TruD; 1.
DR   PIRSF; PIRSF037016; Pseudouridin_synth_euk_prd; 1.
DR   SUPFAM; SSF55120; Pseudouridine synthase; 1.
DR   PROSITE; PS50984; TRUD; 1.
DR   Genevisible; Q9H0K6; HS.
PE   1: Evidence at protein level;
KW   Alternative splicing; Isomerase; mRNA processing; Phosphoprotein;
KW   Reference proteome.
FT   CHAIN           1..701
FT                   /note="Pseudouridylate synthase PUS7L"
FT                   /id="PRO_0000316785"
FT   DOMAIN          424..647
FT                   /note="TRUD"
FT                   /evidence="ECO:0000255|PROSITE-ProRule:PRU00342"
FT   ACT_SITE        339
FT                   /note="Nucleophile"
FT                   /evidence="ECO:0000250|UniProtKB:Q57261"
FT   MOD_RES         79
FT                   /note="Phosphoserine"
FT                   /evidence="ECO:0007744|PubMed:23186163"
FT   VAR_SEQ         1..313
FT                   /note="Missing (in isoform 2)"
FT                   /evidence="ECO:0000303|PubMed:14702039"
FT                   /id="VSP_054568"
FT   VARIANT         92
FT                   /note="I -> M (in dbSNP:rs33999797)"
FT                   /id="VAR_038392"
FT   VARIANT         264
FT                   /note="K -> E (in dbSNP:rs1057190)"
FT                   /evidence="ECO:0000269|PubMed:17974005"
FT                   /id="VAR_038393"
FT   VARIANT         343
FT                   /note="I -> V (in dbSNP:rs34668377)"
FT                   /id="VAR_038394"
FT   CONFLICT        167
FT                   /note="L -> V (in Ref. 5; AAH68502)"
FT                   /evidence="ECO:0000305"
FT   CONFLICT        206
FT                   /note="L -> F (in Ref. 5; AAH20781)"
FT                   /evidence="ECO:0000305"
FT   CONFLICT        572
FT                   /note="P -> Q (in Ref. 5; AAH68502)"
FT                   /evidence="ECO:0000305"
SQ   SEQUENCE   701 AA;  80700 MW;  F8DD4478EA1210A0 CRC64;
     MEEDTDYRIR FSSLCFFNDH VGFHGTIKSS PSDFIVIEID EQGQLVNKTI DEPIFKISEI
     QLEPNNFPKK PKLDLQNLSL EDGRNQEVHT LIKYTDGDQN HQSGSEKEDT IVDGTSKCEE
     KADVLSSFLD EKTHELLNNF ACDVREKWLS KTELIGLPPE FSIGRILDKN QRASLHSAIR
     QKFPFLVTVG KNSEIVVKPN LEYKELCHLV SEEEAFDFFK YLDAKKENSK FTFKPDTNKD
     HRKAVHHFVN KKFGNLVETK SFSKMNCSAG NPNVVVTVRF REKAHKRGKR PLSECQEGKV
     IYTAFTLRKE NLEMFEAIGF LAIKLGVIPS DFSYAGLKDK KAITYQAMVV RKVTPERLKN
     IEKEIEKKRM NVFNIRSVDD SLRLGQLKGN HFDIVIRNLK KQINDSANLR ERIMEAIENV
     KKKGFVNYYG PQRFGKGRKV HTDQIGLALL KNEMMKAIKL FLTPEDLDDP VNRAKKYFLQ
     TEDAKGTLSL MPEFKVRERA LLEALHRFGM TEEGCIQAWF SLPHSMRIFY VHAYTSKIWN
     EAVSYRLETY GARVVQGDLV CLDEDIDDEN FPNSKIHLVT EEEGSANMYA IHQVVLPVLG
     YNIQYPKNKV GQWYHDILSR DGLQTCRFKV PTLKLNIPGC YRQILKHPCN LSYQLMEDHD
     IDVKTKGSHI DETALSLLIS FDLDASCYAT VCLKEIMKHD V
//