PUS7_DROME
ID PUS7_DROME Reviewed; 734 AA.
AC Q9VSK9;
DT 25-MAY-2022, integrated into UniProtKB/Swiss-Prot.
DT 01-MAY-2000, sequence version 1.
DT 03-AUG-2022, entry version 178.
DE RecName: Full=Pseudouridylate synthase 7 homolog;
DE EC=5.4.99.- {ECO:0000305|PubMed:30526862};
GN Name=Pus7 {ECO:0000303|PubMed:30526862, ECO:0000312|FlyBase:FBgn0035901};
GN ORFNames=CG6745 {ECO:0000312|FlyBase:FBgn0035901};
OS Drosophila melanogaster (Fruit fly).
OC Eukaryota; Metazoa; Ecdysozoa; Arthropoda; Hexapoda; Insecta; Pterygota;
OC Neoptera; Endopterygota; Diptera; Brachycera; Muscomorpha; Ephydroidea;
OC Drosophilidae; Drosophila; Sophophora.
OX NCBI_TaxID=7227;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RC STRAIN=Berkeley;
RX PubMed=10731132; DOI=10.1126/science.287.5461.2185;
RA Adams M.D., Celniker S.E., Holt R.A., Evans C.A., Gocayne J.D.,
RA Amanatides P.G., Scherer S.E., Li P.W., Hoskins R.A., Galle R.F.,
RA George R.A., Lewis S.E., Richards S., Ashburner M., Henderson S.N.,
RA Sutton G.G., Wortman J.R., Yandell M.D., Zhang Q., Chen L.X., Brandon R.C.,
RA Rogers Y.-H.C., Blazej R.G., Champe M., Pfeiffer B.D., Wan K.H., Doyle C.,
RA Baxter E.G., Helt G., Nelson C.R., Miklos G.L.G., Abril J.F., Agbayani A.,
RA An H.-J., Andrews-Pfannkoch C., Baldwin D., Ballew R.M., Basu A.,
RA Baxendale J., Bayraktaroglu L., Beasley E.M., Beeson K.Y., Benos P.V.,
RA Berman B.P., Bhandari D., Bolshakov S., Borkova D., Botchan M.R., Bouck J.,
RA Brokstein P., Brottier P., Burtis K.C., Busam D.A., Butler H., Cadieu E.,
RA Center A., Chandra I., Cherry J.M., Cawley S., Dahlke C., Davenport L.B.,
RA Davies P., de Pablos B., Delcher A., Deng Z., Mays A.D., Dew I.,
RA Dietz S.M., Dodson K., Doup L.E., Downes M., Dugan-Rocha S., Dunkov B.C.,
RA Dunn P., Durbin K.J., Evangelista C.C., Ferraz C., Ferriera S.,
RA Fleischmann W., Fosler C., Gabrielian A.E., Garg N.S., Gelbart W.M.,
RA Glasser K., Glodek A., Gong F., Gorrell J.H., Gu Z., Guan P., Harris M.,
RA Harris N.L., Harvey D.A., Heiman T.J., Hernandez J.R., Houck J., Hostin D.,
RA Houston K.A., Howland T.J., Wei M.-H., Ibegwam C., Jalali M., Kalush F.,
RA Karpen G.H., Ke Z., Kennison J.A., Ketchum K.A., Kimmel B.E., Kodira C.D.,
RA Kraft C.L., Kravitz S., Kulp D., Lai Z., Lasko P., Lei Y., Levitsky A.A.,
RA Li J.H., Li Z., Liang Y., Lin X., Liu X., Mattei B., McIntosh T.C.,
RA McLeod M.P., McPherson D., Merkulov G., Milshina N.V., Mobarry C.,
RA Morris J., Moshrefi A., Mount S.M., Moy M., Murphy B., Murphy L.,
RA Muzny D.M., Nelson D.L., Nelson D.R., Nelson K.A., Nixon K., Nusskern D.R.,
RA Pacleb J.M., Palazzolo M., Pittman G.S., Pan S., Pollard J., Puri V.,
RA Reese M.G., Reinert K., Remington K., Saunders R.D.C., Scheeler F.,
RA Shen H., Shue B.C., Siden-Kiamos I., Simpson M., Skupski M.P., Smith T.J.,
RA Spier E., Spradling A.C., Stapleton M., Strong R., Sun E., Svirskas R.,
RA Tector C., Turner R., Venter E., Wang A.H., Wang X., Wang Z.-Y.,
RA Wassarman D.A., Weinstock G.M., Weissenbach J., Williams S.M., Woodage T.,
RA Worley K.C., Wu D., Yang S., Yao Q.A., Ye J., Yeh R.-F., Zaveri J.S.,
RA Zhan M., Zhang G., Zhao Q., Zheng L., Zheng X.H., Zhong F.N., Zhong W.,
RA Zhou X., Zhu S.C., Zhu X., Smith H.O., Gibbs R.A., Myers E.W., Rubin G.M.,
RA Venter J.C.;
RT "The genome sequence of Drosophila melanogaster.";
RL Science 287:2185-2195(2000).
RN [2]
RP GENOME REANNOTATION.
RC STRAIN=Berkeley;
RX PubMed=12537572; DOI=10.1186/gb-2002-3-12-research0083;
RA Misra S., Crosby M.A., Mungall C.J., Matthews B.B., Campbell K.S.,
RA Hradecky P., Huang Y., Kaminker J.S., Millburn G.H., Prochnik S.E.,
RA Smith C.D., Tupy J.L., Whitfield E.J., Bayraktaroglu L., Berman B.P.,
RA Bettencourt B.R., Celniker S.E., de Grey A.D.N.J., Drysdale R.A.,
RA Harris N.L., Richter J., Russo S., Schroeder A.J., Shu S.Q., Stapleton M.,
RA Yamada C., Ashburner M., Gelbart W.M., Rubin G.M., Lewis S.E.;
RT "Annotation of the Drosophila melanogaster euchromatic genome: a systematic
RT review.";
RL Genome Biol. 3:RESEARCH0083.1-RESEARCH0083.22(2002).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC STRAIN=Berkeley; TISSUE=Head;
RA Stapleton M., Brokstein P., Hong L., Agbayani A., Carlson J., Champe M.,
RA Chavez C., Dorsett V., Dresnek D., Farfan D., Frise E., George R.,
RA Gonzalez M., Guarin H., Kronmiller B., Li P., Liao G., Miranda A.,
RA Mungall C.J., Nunoo J., Pacleb J., Paragas V., Park S., Patel S.,
RA Phouanenavong S., Wan K., Yu C., Lewis S.E., Rubin G.M., Celniker S.;
RL Submitted (JAN-2003) to the EMBL/GenBank/DDBJ databases.
RN [4]
RP FUNCTION, CATALYTIC ACTIVITY, AND DISRUPTION PHENOTYPE.
RX PubMed=30526862; DOI=10.1016/j.ajhg.2018.10.026;
RA de Brouwer A.P.M., Abou Jamra R., Koertel N., Soyris C., Polla D.L.,
RA Safra M., Zisso A., Powell C.A., Rebelo-Guiomar P., Dinges N., Morin V.,
RA Stock M., Hussain M., Shahzad M., Riazuddin S., Ahmed Z.M., Pfundt R.,
RA Schwarz F., de Boer L., Reis A., Grozeva D., Raymond F.L., Riazuddin S.,
RA Koolen D.A., Minczuk M., Roignant J.Y., van Bokhoven H., Schwartz S.;
RT "Variants in PUS7 cause intellectual disability with speech delay,
RT microcephaly, short stature, and aggressive behavior.";
RL Am. J. Hum. Genet. 103:1045-1052(2018).
CC -!- FUNCTION: Pseudouridylate synthase that catalyzes pseudouridylation of
CC RNAs, such as tRNAs and mRNAs. {ECO:0000305|PubMed:30526862}.
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 Evidence={ECO:0000305|PubMed:30526862};
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:0000250|UniProtKB:Q96PZ0};
CC -!- DISRUPTION PHENOTYPE: Neurological defects, characterized by behavioral
CC disorders, including increased activity, disorientation, and
CC aggressiveness (PubMed:30526862). Impaired pseudouridylation oF tRNAS
CC (PubMed:30526862). {ECO:0000269|PubMed:30526862}.
CC -!- SIMILARITY: Belongs to the pseudouridine synthase TruD family.
CC {ECO:0000305}.
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DR EMBL; AE014296; AAF50409.1; -; Genomic_DNA.
DR EMBL; AY069192; AAL39337.1; -; mRNA.
DR RefSeq; NP_648231.1; NM_139974.4.
DR AlphaFoldDB; Q9VSK9; -.
DR SMR; Q9VSK9; -.
DR IntAct; Q9VSK9; 11.
DR STRING; 7227.FBpp0076346; -.
DR PaxDb; Q9VSK9; -.
DR PRIDE; Q9VSK9; -.
DR EnsemblMetazoa; FBtr0076620; FBpp0076346; FBgn0035901.
DR GeneID; 38969; -.
DR KEGG; dme:Dmel_CG6745; -.
DR UCSC; CG6745-RA; d. melanogaster.
DR CTD; 54517; -.
DR FlyBase; FBgn0035901; Pus7.
DR VEuPathDB; VectorBase:FBgn0035901; -.
DR eggNOG; KOG2339; Eukaryota.
DR GeneTree; ENSGT00530000063554; -.
DR HOGENOM; CLU_005281_0_1_1; -.
DR InParanoid; Q9VSK9; -.
DR OMA; ERGYFNY; -.
DR OrthoDB; 955294at2759; -.
DR PhylomeDB; Q9VSK9; -.
DR BioGRID-ORCS; 38969; 1 hit in 3 CRISPR screens.
DR GenomeRNAi; 38969; -.
DR Proteomes; UP000000803; Chromosome 3L.
DR Bgee; FBgn0035901; Expressed in egg chamber and 14 other tissues.
DR GO; GO:0005634; C:nucleus; IBA:GO_Central.
DR GO; GO:0009982; F:pseudouridine synthase activity; IBA:GO_Central.
DR GO; GO:0003723; F:RNA binding; IEA:InterPro.
DR GO; GO:0001522; P:pseudouridine synthesis; IBA:GO_Central.
DR GO; GO:0031119; P:tRNA pseudouridine synthesis; IMP:UniProtKB.
DR Gene3D; 3.30.2350.20; -; 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 PANTHER; PTHR13326; PTHR13326; 1.
DR Pfam; PF01142; TruD; 1.
DR PIRSF; PIRSF037016; Pseudouridin_synth_euk_prd; 1.
DR SUPFAM; SSF55120; SSF55120; 1.
DR TIGRFAMs; TIGR00094; tRNA_TruD_broad; 1.
DR PROSITE; PS50984; TRUD; 1.
PE 1: Evidence at protein level;
KW Isomerase; Reference proteome; tRNA processing.
FT CHAIN 1..734
FT /note="Pseudouridylate synthase 7 homolog"
FT /id="PRO_0000455684"
FT DOMAIN 351..609
FT /note="TRUD"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00342"
FT REGION 1..45
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 178..213
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 491..523
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 684..734
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 13..45
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 187..213
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 509..523
FT /note="Acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 690..718
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT ACT_SITE 274
FT /note="Nucleophile"
FT /evidence="ECO:0000250|UniProtKB:Q96PZ0"
SQ SEQUENCE 734 AA; 82800 MW; CF83FC8CE160FE06 CRC64;
MGKDRGRGRR NNHSGPYNKS NWRGQKKDRP QNNGGGQRNS APQQKSTLLE TQVGITEFTN
PEAPGFTGIL KSRFSDFHVN EIDSNGKVLE LNDLSVPKVA IVAVAENELD NWRKELEAVI
GPEVWQDIAN LAKAKNDPAI EQKVEIDVTT LDKEQRTQVH QMIKQLYKGK LLSTTIGQQQ
AKPKVQEEAS LENKDAAEGE TSTQKDSQVP AEEKKTIKVF KPKPGRGDKR WSFPADYVTF
LVHKTNLVTS DVASTLAARL NLRPSQVNYS GIKDKRAKTT QKFSVKRRTP ESILVAARSQ
RNVHIGNFGF ESNTLKLGDL QGNRFRIALR HIAKEKREEI EQALQSLKER GFINYYGLQR
FGNSASVPTY EVGVALLKHD YKLACELILK PRDSDVEFLR PIREEWWKNR DSAAAAAQIY
GEKFIEKKLL DGLARFGESD YSSALRQIPR NMLMLYPHAY QSLIFNRIAS RRIKEFGLKL
IPGDLVYVEQ DQSEASEEQA QQGEALEEQK EEEPNDEPLE VPEGDEAIEE ESIFKRKVRP
LTAEDIASGK YKLCDVVLPL PGHDITYPSN ECGAWYEEML AEVGLSSDQL KHKEKTYALA
GAYRKMIISS SDLKWSFRMY NTPEDTLIAS DWELLKNIPV APEPAEAEAN YMALLLEFSL
PTAAYATMFL RELLKQDTSS ASQTQLEKQA MAKEDNEKKA VGTQEEQMEV VKEVADEDGQ
ETEQAETQGA EEAV
