(data stored in ACNUC30630 zone)

SWISSPROT: PUSL1_HUMAN

ID   PUSL1_HUMAN             Reviewed;         303 AA.
AC   Q8N0Z8; B4DP76; Q5TA41;
DT   27-SEP-2004, integrated into UniProtKB/Swiss-Prot.
DT   01-OCT-2002, sequence version 1.
DT   11-DEC-2019, entry version 128.
DE   RecName: Full=tRNA pseudouridine synthase-like 1;
DE            EC=5.4.99.-;
DE   AltName: Full=tRNA pseudouridylate synthase-like 1;
DE   AltName: Full=tRNA-uridine isomerase-like 1;
GN   Name=PUSL1;
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] (ISOFORMS 1 AND 2).
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   [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 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 (JUL-2005) to the EMBL/GenBank/DDBJ databases.
RN   [4]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC   TISSUE=Skin;
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   PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-84, AND IDENTIFICATION BY
RP   MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC   TISSUE=Leukemic T-cell;
RX   PubMed=19690332; DOI=10.1126/scisignal.2000007;
RA   Mayya V., Lundgren D.H., Hwang S.-I., Rezaul K., Wu L., Eng J.K.,
RA   Rodionov V., Han D.K.;
RT   "Quantitative phosphoproteomic analysis of T cell receptor signaling
RT   reveals system-wide modulation of protein-protein interactions.";
RL   Sci. Signal. 2:RA46-RA46(2009).
CC   -!- CATALYTIC ACTIVITY:
CC       Reaction=a uridine in tRNA = a pseudouridine in tRNA;
CC         Xref=Rhea:RHEA:54572, Rhea:RHEA-COMP:13339, Rhea:RHEA-COMP:13934,
CC         ChEBI:CHEBI:65314, ChEBI:CHEBI:65315;
CC   -!- ALTERNATIVE PRODUCTS:
CC       Event=Alternative splicing; Named isoforms=2;
CC       Name=1;
CC         IsoId=Q8N0Z8-1; Sequence=Displayed;
CC       Name=2;
CC         IsoId=Q8N0Z8-2; Sequence=VSP_036048;
CC   -!- SIMILARITY: Belongs to the tRNA pseudouridine synthase TruA family.
CC       {ECO:0000305}.
DR   EMBL; AK075292; BAC11527.1; -; mRNA.
DR   EMBL; AK298218; BAG60488.1; -; mRNA.
DR   EMBL; AL139287; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   EMBL; CH471183; EAW56245.1; -; Genomic_DNA.
DR   EMBL; BC034304; AAH34304.1; -; mRNA.
DR   CCDS; CCDS20.1; -. [Q8N0Z8-1]
DR   RefSeq; NP_699170.1; NM_153339.2. [Q8N0Z8-1]
DR   BioGrid; 126015; 27.
DR   IntAct; Q8N0Z8; 15.
DR   MINT; Q8N0Z8; -.
DR   STRING; 9606.ENSP00000368318; -.
DR   iPTMnet; Q8N0Z8; -.
DR   PhosphoSitePlus; Q8N0Z8; -.
DR   BioMuta; PUSL1; -.
DR   DMDM; 52783232; -.
DR   EPD; Q8N0Z8; -.
DR   jPOST; Q8N0Z8; -.
DR   MassIVE; Q8N0Z8; -.
DR   MaxQB; Q8N0Z8; -.
DR   PaxDb; Q8N0Z8; -.
DR   PeptideAtlas; Q8N0Z8; -.
DR   PRIDE; Q8N0Z8; -.
DR   ProteomicsDB; 71494; -. [Q8N0Z8-1]
DR   ProteomicsDB; 71495; -. [Q8N0Z8-2]
DR   DNASU; 126789; -.
DR   Ensembl; ENST00000379031; ENSP00000368318; ENSG00000169972. [Q8N0Z8-1]
DR   GeneID; 126789; -.
DR   KEGG; hsa:126789; -.
DR   UCSC; uc001aed.4; human. [Q8N0Z8-1]
DR   CTD; 126789; -.
DR   DisGeNET; 126789; -.
DR   EuPathDB; HostDB:ENSG00000169972.11; -.
DR   GeneCards; PUSL1; -.
DR   HGNC; HGNC:26914; PUSL1.
DR   HPA; HPA032057; -.
DR   HPA; HPA039999; -.
DR   neXtProt; NX_Q8N0Z8; -.
DR   OpenTargets; ENSG00000169972; -.
DR   PharmGKB; PA134947837; -.
DR   eggNOG; KOG4393; Eukaryota.
DR   eggNOG; COG0101; LUCA.
DR   GeneTree; ENSGT00950000183160; -.
DR   HOGENOM; HOG000248674; -.
DR   InParanoid; Q8N0Z8; -.
DR   OMA; FLYGMVR; -.
DR   OrthoDB; 831280at2759; -.
DR   PhylomeDB; Q8N0Z8; -.
DR   TreeFam; TF105127; -.
DR   ChiTaRS; PUSL1; human.
DR   GenomeRNAi; 126789; -.
DR   Pharos; Q8N0Z8; Tdark.
DR   PRO; PR:Q8N0Z8; -.
DR   Proteomes; UP000005640; Chromosome 1.
DR   RNAct; Q8N0Z8; protein.
DR   Bgee; ENSG00000169972; Expressed in 139 organ(s), highest expression level in esophagus mucosa.
DR   ExpressionAtlas; Q8N0Z8; baseline and differential.
DR   Genevisible; Q8N0Z8; HS.
DR   GO; GO:0043231; C:intracellular membrane-bounded organelle; IDA:HPA.
DR   GO; GO:0009982; F:pseudouridine synthase activity; IBA:GO_Central.
DR   GO; GO:0003723; F:RNA binding; IEA:InterPro.
DR   GO; GO:0031119; P:tRNA pseudouridine synthesis; IBA:GO_Central.
DR   Gene3D; 3.30.70.660; -; 1.
DR   HAMAP; MF_00171; TruA; 1.
DR   InterPro; IPR020103; PsdUridine_synth_cat_dom_sf.
DR   InterPro; IPR001406; PsdUridine_synth_TruA.
DR   InterPro; IPR020097; PsdUridine_synth_TruA_a/b_dom.
DR   InterPro; IPR020095; PsdUridine_synth_TruA_C.
DR   PANTHER; PTHR11142; PTHR11142; 1.
DR   Pfam; PF01416; PseudoU_synth_1; 2.
DR   PIRSF; PIRSF001430; tRNA_psdUrid_synth; 1.
DR   SUPFAM; SSF55120; SSF55120; 1.
PE   1: Evidence at protein level;
DR   PRODOM; Q8N0Z8.
DR   SWISS-2DPAGE; Q8N0Z8.
KW   Alternative splicing; Isomerase; Phosphoprotein; Polymorphism;
KW   Reference proteome; tRNA processing.
FT   CHAIN           1..303
FT                   /note="tRNA pseudouridine synthase-like 1"
FT                   /id="PRO_0000057522"
FT   ACT_SITE        66
FT                   /note="Nucleophile"
FT                   /evidence="ECO:0000250"
FT   BINDING         130
FT                   /note="Substrate"
FT                   /evidence="ECO:0000250"
FT   MOD_RES         84
FT                   /note="Phosphoserine"
FT                   /evidence="ECO:0000244|PubMed:19690332"
FT   VAR_SEQ         1..161
FT                   /note="Missing (in isoform 2)"
FT                   /evidence="ECO:0000303|PubMed:14702039"
FT                   /id="VSP_036048"
FT   VARIANT         103
FT                   /note="R -> Q (in dbSNP:rs12094447)"
FT                   /id="VAR_034424"
FT   VARIANT         197
FT                   /note="R -> W (in dbSNP:rs34738574)"
FT                   /id="VAR_051869"
SQ   SEQUENCE   303 AA;  33233 MW;  A1B41615F9F214DA CRC64;
     MSSAPASGSV RARYLVYFQY VGTDFNGVAA VRGTQRAVGV QNYLEEAAER LNSVEPVRFT
     ISSRTDAGVH ALSNAAHLDV QRRSGRPPFP PEVLAEALNT HLRHPAIRVL RAFRVPSDFH
     ARHAATSRTY LYRLATGCHR RDELPVFERN LCWTLPADCL DMVAMQEAAQ HLLGTHDFSA
     FQSAGSPVPS PVRTLRRVSV SPGQASPLVT PEESRKLRFW NLEFESQSFL YRQVRRMTAV
     LVAVGLGALA PAQVKTILES QDPLGKHQTR VAPAHGLFLK SVLYGNLGAA SCTLQGPQFG
     SHG
//

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