LOCUS       NM_153339               1257 bp    mRNA    linear   PRI 19-SEP-2024
DEFINITION  Homo sapiens pseudouridine synthase like 1 (PUSL1), transcript
            variant 2, mRNA.
ACCESSION   NM_153339
VERSION     NM_153339.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1257)
  AUTHORS   Morgenstern,M., Peikert,C.D., Lubbert,P., Suppanz,I., Klemm,C.,
            Alka,O., Steiert,C., Naumenko,N., Schendzielorz,A., Melchionda,L.,
            Muhlhauser,W.W.D., Knapp,B., Busch,J.D., Stiller,S.B.,
            Dannenmaier,S., Lindau,C., Licheva,M., Eickhorst,C., Galbusera,R.,
            Zerbes,R.M., Ryan,M.T., Kraft,C., Kozjak-Pavlovic,V., Drepper,F.,
            Dennerlein,S., Oeljeklaus,S., Pfanner,N., Wiedemann,N. and
            Warscheid,B.
  TITLE     Quantitative high-confidence human mitochondrial proteome and its
            dynamics in cellular context
  JOURNAL   Cell Metab 33 (12), 2464-2483 (2021)
   PUBMED   34800366
REFERENCE   2  (bases 1 to 1257)
  AUTHORS   Zaganelli,S., Rebelo-Guiomar,P., Maundrell,K., Rozanska,A.,
            Pierredon,S., Powell,C.A., Jourdain,A.A., Hulo,N.,
            Lightowlers,R.N., Chrzanowska-Lightowlers,Z.M., Minczuk,M. and
            Martinou,J.C.
  TITLE     The Pseudouridine Synthase RPUSD4 Is an Essential Component of
            Mitochondrial RNA Granules
  JOURNAL   J Biol Chem 292 (11), 4519-4532 (2017)
   PUBMED   28082677
REFERENCE   3  (bases 1 to 1257)
  AUTHORS   Jostins,L., Ripke,S., Weersma,R.K., Duerr,R.H., McGovern,D.P.,
            Hui,K.Y., Lee,J.C., Schumm,L.P., Sharma,Y., Anderson,C.A.,
            Essers,J., Mitrovic,M., Ning,K., Cleynen,I., Theatre,E.,
            Spain,S.L., Raychaudhuri,S., Goyette,P., Wei,Z., Abraham,C.,
            Achkar,J.P., Ahmad,T., Amininejad,L., Ananthakrishnan,A.N.,
            Andersen,V., Andrews,J.M., Baidoo,L., Balschun,T., Bampton,P.A.,
            Bitton,A., Boucher,G., Brand,S., Buning,C., Cohain,A., Cichon,S.,
            D'Amato,M., De Jong,D., Devaney,K.L., Dubinsky,M., Edwards,C.,
            Ellinghaus,D., Ferguson,L.R., Franchimont,D., Fransen,K.,
            Gearry,R., Georges,M., Gieger,C., Glas,J., Haritunians,T., Hart,A.,
            Hawkey,C., Hedl,M., Hu,X., Karlsen,T.H., Kupcinskas,L.,
            Kugathasan,S., Latiano,A., Laukens,D., Lawrance,I.C., Lees,C.W.,
            Louis,E., Mahy,G., Mansfield,J., Morgan,A.R., Mowat,C., Newman,W.,
            Palmieri,O., Ponsioen,C.Y., Potocnik,U., Prescott,N.J.,
            Regueiro,M., Rotter,J.I., Russell,R.K., Sanderson,J.D., Sans,M.,
            Satsangi,J., Schreiber,S., Simms,L.A., Sventoraityte,J.,
            Targan,S.R., Taylor,K.D., Tremelling,M., Verspaget,H.W., De Vos,M.,
            Wijmenga,C., Wilson,D.C., Winkelmann,J., Xavier,R.J., Zeissig,S.,
            Zhang,B., Zhang,C.K., Zhao,H., Silverberg,M.S., Annese,V.,
            Hakonarson,H., Brant,S.R., Radford-Smith,G., Mathew,C.G.,
            Rioux,J.D., Schadt,E.E., Daly,M.J., Franke,A., Parkes,M.,
            Vermeire,S., Barrett,J.C. and Cho,J.H.
  CONSRTM   International IBD Genetics Consortium (IIBDGC)
  TITLE     Host-microbe interactions have shaped the genetic architecture of
            inflammatory bowel disease
  JOURNAL   Nature 491 (7422), 119-124 (2012)
   PUBMED   23128233
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            HY160725.1 and BC034304.1.
            
            On Nov 22, 2018 this sequence version replaced NM_153339.2.
            
            Transcript Variant: This variant (2) uses an alternate in-frame
            splice junction compared to variant 1. The resulting isoform (2)
            has the same N- and C-termini but is shorter compared to isoform 1.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1163657.503987.1, AK075292.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1966682, SAMEA1968540
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000379031.10/ ENSP00000368318.5
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-17                HY160725.1         19-35
            18-1257             BC034304.1         1-1240
FEATURES             Location/Qualifiers
     source          1..1257
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p36.33"
     gene            1..1257
                     /gene="PUSL1"
                     /note="pseudouridine synthase like 1"
                     /db_xref="GeneID:126789"
                     /db_xref="HGNC:HGNC:26914"
     exon            1..124
                     /gene="PUSL1"
                     /inference="alignment:Splign:2.1.0"
     CDS             48..959
                     /gene="PUSL1"
                     /note="isoform 2 is encoded by transcript variant 2; tRNA
                     pseudouridine synthase-like 1; tRNA-uridine isomerase-like
                     1; pseudouridylate synthase like 1; tRNA pseudouridylate
                     synthase-like 1"
                     /codon_start=1
                     /product="tRNA pseudouridine synthase-like 1 isoform 2"
                     /protein_id="NP_699170.1"
                     /db_xref="CCDS:CCDS20.1"
                     /db_xref="GeneID:126789"
                     /db_xref="HGNC:HGNC:26914"
                     /translation="MSSAPASGSVRARYLVYFQYVGTDFNGVAAVRGTQRAVGVQNYL
                     EEAAERLNSVEPVRFTISSRTDAGVHALSNAAHLDVQRRSGRPPFPPEVLAEALNTHL
                     RHPAIRVLRAFRVPSDFHARHAATSRTYLYRLATGCHRRDELPVFERNLCWTLPADCL
                     DMVAMQEAAQHLLGTHDFSAFQSAGSPVPSPVRTLRRVSVSPGQASPLVTPEESRKLR
                     FWNLEFESQSFLYRQVRRMTAVLVAVGLGALAPAQVKTILESQDPLGKHQTRVAPAHG
                     LFLKSVLYGNLGAASCTLQGPQFGSHG"
     exon            125..182
                     /gene="PUSL1"
                     /inference="alignment:Splign:2.1.0"
     exon            183..370
                     /gene="PUSL1"
                     /inference="alignment:Splign:2.1.0"
     exon            371..520
                     /gene="PUSL1"
                     /inference="alignment:Splign:2.1.0"
     exon            521..691
                     /gene="PUSL1"
                     /inference="alignment:Splign:2.1.0"
     exon            692..746
                     /gene="PUSL1"
                     /inference="alignment:Splign:2.1.0"
     exon            747..909
                     /gene="PUSL1"
                     /inference="alignment:Splign:2.1.0"
     exon            910..1257
                     /gene="PUSL1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1236..1241
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PUSL1"
                     /note="hexamer: AATAAA"
     polyA_site      1257
                     /gene="PUSL1"
                     /note="major polyA site"
ORIGIN      
        1 attcctgcgc tggaggccgc ctctgacgcc accggctggg ctccgccatg agttcggcgc
       61 cggcctcagg ctccgtgcgc gcgcgctatc ttgtgtactt ccagtacgtg ggcaccgact
      121 ttaacggggt cgcggccgtc aggggcactc agcgcgccgt cggggtccag aactacctgg
      181 aggaggccgc cgagcggctg aattccgtgg agccggtcag gttcaccatc tccagccgca
      241 cggacgccgg ggtccacgcc ctgagcaacg cggcgcacct ggacgtccag cgccgctcag
      301 gccggccgcc cttcccgccc gaggtcctgg ccgaggccct caacacacac ctgcggcacc
      361 cggccatcag ggtcctgcgg gccttccgag tgcccagcga cttccacgct cgtcacgcag
      421 ccacgtcccg gacctacctg taccgcctgg ccactggctg tcaccggcgt gatgagctgc
      481 cggtgtttga acgcaaccta tgctggactc tcccggcaga ctgcctggat atggtcgcca
      541 tgcaggaagc cgcccagcac ctcctcggca cacacgactt cagcgccttc cagtccgctg
      601 gcagcccggt gccgagcccc gtgcgaacgc tgcgccgggt ctccgtttcc ccaggccaag
      661 ccagcccctt ggtcaccccc gaggagagca ggaagctgcg gttctggaac ctggagtttg
      721 agagccagtc tttcctgtat agacaggtac ggaggatgac ggctgtgctg gtggccgtgg
      781 ggctgggggc tttggcacct gcccaggtga agacgattct ggagagccaa gatcccctgg
      841 gcaagcacca gacacgtgta gccccagccc acggcttatt cctcaagtca gtgctgtacg
      901 ggaacctcgg tgctgcctcc tgcaccctgc aggggccaca gttcgggagc cacggatgac
      961 cctggacact caagccaaag ttaggccaca ccaggcccaa ccctgtgctg gtcaagccag
     1021 ggcagtcaca gctgcttggg gcccacagca ctgctgcctg gtctccacag tagcctccct
     1081 gcccgggtcc cagcaccctg gatgcccgtc tctgtcccag gcgggatggg gcacagtgca
     1141 ggacacagcc atgtacacca agaagagagt accaagtagt cttttgttca gcttttactg
     1201 gaaactgctg tctaggacca cctgccctaa ccaggaataa aggcaagaca gcctgga
//
