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 03-AUG-2022, entry version 140.
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}.
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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 AlphaFoldDB; Q8N0Z8; -.
DR SMR; Q8N0Z8; -.
DR BioGRID; 126015; 62.
DR IntAct; Q8N0Z8; 19.
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 Antibodypedia; 26254; 75 antibodies from 17 providers.
DR DNASU; 126789; -.
DR Ensembl; ENST00000379031.10; ENSP00000368318.5; ENSG00000169972.12. [Q8N0Z8-1]
DR GeneID; 126789; -.
DR KEGG; hsa:126789; -.
DR MANE-Select; ENST00000379031.10; ENSP00000368318.5; NM_153339.3; NP_699170.1.
DR UCSC; uc001aed.4; human. [Q8N0Z8-1]
DR CTD; 126789; -.
DR DisGeNET; 126789; -.
DR GeneCards; PUSL1; -.
DR HGNC; HGNC:26914; PUSL1.
DR HPA; ENSG00000169972; Low tissue specificity.
DR neXtProt; NX_Q8N0Z8; -.
DR OpenTargets; ENSG00000169972; -.
DR PharmGKB; PA134947837; -.
DR VEuPathDB; HostDB:ENSG00000169972; -.
DR eggNOG; KOG4393; Eukaryota.
DR GeneTree; ENSGT00950000183160; -.
DR HOGENOM; CLU_014673_3_1_1; -.
DR InParanoid; Q8N0Z8; -.
DR OMA; FLYGMVR; -.
DR OrthoDB; 831280at2759; -.
DR PhylomeDB; Q8N0Z8; -.
DR TreeFam; TF105127; -.
DR PathwayCommons; Q8N0Z8; -.
DR SignaLink; Q8N0Z8; -.
DR BioGRID-ORCS; 126789; 25 hits in 1085 CRISPR screens.
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 lower esophagus mucosa and 121 other tissues.
DR ExpressionAtlas; Q8N0Z8; baseline and differential.
DR Genevisible; Q8N0Z8; HS.
DR GO; GO:0043231; C:intracellular membrane-bounded organelle; IDA:HPA.
DR GO; GO:0005739; C:mitochondrion; IDA:FlyBase.
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 CDD; cd02570; PseudoU_synth_EcTruA; 1.
DR Gene3D; 3.30.70.580; -; 1.
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 InterPro; IPR020094; TruA/RsuA/RluB/E/F_N.
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;
KW Alternative splicing; Isomerase; Phosphoprotein; Reference proteome;
KW 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 /ligand="substrate"
FT /evidence="ECO:0000250"
FT MOD_RES 84
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|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
