LOCUS       NM_001010874            3561 bp    mRNA    linear   PRI 04-OCT-2024
DEFINITION  Homo sapiens trans-2,3-enoyl-CoA reductase like (TECRL), transcript
            variant 1, mRNA.
ACCESSION   NM_001010874 XM_171068
VERSION     NM_001010874.5
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 3561)
  AUTHORS   Hou,C., Jiang,X., Zhang,H., Zheng,J., Qiu,Q., Zhang,Y., Sun,X.,
            Xu,M., Chang,A.C.Y., Xie,L. and Xiao,T.
  TITLE     TECRL deficiency results in aberrant mitochondrial function in
            cardiomyocytes
  JOURNAL   Commun Biol 5 (1), 470 (2022)
   PUBMED   35577932
  REMARK    GeneRIF: TECRL deficiency results in aberrant mitochondrial
            function in cardiomyocytes.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 3561)
  AUTHORS   Moscu-Gregor,A., Marschall,C., Muntjes,C., Schonecker,A.,
            Schuessler-Hahn,F., Hohendanner,F., Parwani,A.S., Boldt,L.H.,
            Ott,C.E., Bennewiz,A., Paul,T., Krause,U. and Rost,I.
  TITLE     Novel variants in TECRL cause recessive inherited CPVT type 3 with
            severe and variable clinical symptoms
  JOURNAL   J Cardiovasc Electrophysiol 31 (6), 1527-1535 (2020)
   PUBMED   32173957
  REMARK    GeneRIF: Novel variants in TECRL cause recessive inherited CPVT
            type 3 with severe and variable clinical symptoms.
REFERENCE   3  (bases 1 to 3561)
  AUTHORS   Xie,L., Hou,C., Jiang,X., Zhao,J., Li,Y. and Xiao,T.
  TITLE     A compound heterozygosity of Tecrl gene confirmed in a
            catecholaminergic polymorphic ventricular tachycardia family
  JOURNAL   Eur J Med Genet 62 (7), 103631 (2019)
   PUBMED   30790670
  REMARK    GeneRIF: A compound heterozygosity in the Tecrl gene (Arg196Gln and
            c.918+3T > G splice site mutation) was identified in a patient with
            catecholaminergic polymorphic ventricular tachycardia.
REFERENCE   4  (bases 1 to 3561)
  AUTHORS   Devalla,H.D., Gelinas,R., Aburawi,E.H., Beqqali,A., Goyette,P.,
            Freund,C., Chaix,M.A., Tadros,R., Jiang,H., Le Bechec,A.,
            Monshouwer-Kloots,J.J., Zwetsloot,T., Kosmidis,G., Latour,F.,
            Alikashani,A., Hoekstra,M., Schlaepfer,J., Mummery,C.L.,
            Stevenson,B., Kutalik,Z., de Vries,A.A., Rivard,L., Wilde,A.A.,
            Talajic,M., Verkerk,A.O., Al-Gazali,L., Rioux,J.D., Bhuiyan,Z.A.
            and Passier,R.
  TITLE     TECRL, a new life-threatening inherited arrhythmia gene associated
            with overlapping clinical features of both LQTS and CPVT
  JOURNAL   EMBO Mol Med 8 (12), 1390-1408 (2016)
   PUBMED   27861123
  REMARK    GeneRIF: In summary, the authors report that mutations in TECRL are
            associated with inherited arrhythmias characterized by clinical
            features of both long QT syndrome and catecholaminergic polymorphic
            ventricular tachycardia.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 3561)
  AUTHORS   Xie,P., Kranzler,H.R., Yang,C., Zhao,H., Farrer,L.A. and
            Gelernter,J.
  TITLE     Genome-wide association study identifies new susceptibility loci
            for posttraumatic stress disorder
  JOURNAL   Biol Psychiatry 74 (9), 656-663 (2013)
   PUBMED   23726511
REFERENCE   6  (bases 1 to 3561)
  AUTHORS   Cheng,C.Y., Schache,M., Ikram,M.K., Young,T.L., Guggenheim,J.A.,
            Vitart,V., MacGregor,S., Verhoeven,V.J., Barathi,V.A., Liao,J.,
            Hysi,P.G., Bailey-Wilson,J.E., St Pourcain,B., Kemp,J.P.,
            McMahon,G., Timpson,N.J., Evans,D.M., Montgomery,G.W., Mishra,A.,
            Wang,Y.X., Wang,J.J., Rochtchina,E., Polasek,O., Wright,A.F.,
            Amin,N., van Leeuwen,E.M., Wilson,J.F., Pennell,C.E., van
            Duijn,C.M., de Jong,P.T., Vingerling,J.R., Zhou,X., Chen,P., Li,R.,
            Tay,W.T., Zheng,Y., Chew,M., Burdon,K.P., Craig,J.E., Iyengar,S.K.,
            Igo,R.P. Jr., Lass,J.H. Jr., Chew,E.Y., Haller,T., Mihailov,E.,
            Metspalu,A., Wedenoja,J., Simpson,C.L., Wojciechowski,R., Hohn,R.,
            Mirshahi,A., Zeller,T., Pfeiffer,N., Lackner,K.J., Bettecken,T.,
            Meitinger,T., Oexle,K., Pirastu,M., Portas,L., Nag,A.,
            Williams,K.M., Yonova-Doing,E., Klein,R., Klein,B.E.,
            Hosseini,S.M., Paterson,A.D., Makela,K.M., Lehtimaki,T.,
            Kahonen,M., Raitakari,O., Yoshimura,N., Matsuda,F., Chen,L.J.,
            Pang,C.P., Yip,S.P., Yap,M.K., Meguro,A., Mizuki,N., Inoko,H.,
            Foster,P.J., Zhao,J.H., Vithana,E., Tai,E.S., Fan,Q., Xu,L.,
            Campbell,H., Fleck,B., Rudan,I., Aung,T., Hofman,A.,
            Uitterlinden,A.G., Bencic,G., Khor,C.C., Forward,H., Parssinen,O.,
            Mitchell,P., Rivadeneira,F., Hewitt,A.W., Williams,C., Oostra,B.A.,
            Teo,Y.Y., Hammond,C.J., Stambolian,D., Mackey,D.A., Klaver,C.C.,
            Wong,T.Y., Saw,S.M. and Baird,P.N.
  CONSRTM   Consortium for Refractive Error and Myopia; Fuchs' Genetics
            Multi-Center Study Group; Wellcome Trust Case Control Consortium 2;
            Diabetes Control and Complications Trial/Epidemiology of Diabetes
            Interventions, and Complications Research Group
  TITLE     Nine loci for ocular axial length identified through genome-wide
            association studies, including shared loci with refractive error
  JOURNAL   Am J Hum Genet 93 (2), 264-277 (2013)
   PUBMED   24144296
REFERENCE   7  (bases 1 to 3561)
  AUTHORS   Lee,Y.C., Kuo,H.C., Chang,J.S., Chang,L.Y., Huang,L.M., Chen,M.R.,
            Liang,C.D., Chi,H., Huang,F.Y., Lee,M.L., Huang,Y.C., Hwang,B.,
            Chiu,N.C., Hwang,K.P., Lee,P.C., Chang,L.C., Liu,Y.M., Chen,Y.J.,
            Chen,C.H., Chen,Y.T., Tsai,F.J. and Wu,J.Y.
  CONSRTM   Taiwan Pediatric ID Alliance
  TITLE     Two new susceptibility loci for Kawasaki disease identified through
            genome-wide association analysis
  JOURNAL   Nat Genet 44 (5), 522-525 (2012)
   PUBMED   22446961
  REMARK    Publication Status: Online-Only
REFERENCE   8  (bases 1 to 3561)
  AUTHORS   Bailey,S.D., Xie,C., Do,R., Montpetit,A., Diaz,R., Mohan,V.,
            Keavney,B., Yusuf,S., Gerstein,H.C., Engert,J.C. and Anand,S.
  CONSRTM   DREAM investigators
  TITLE     Variation at the NFATC2 locus increases the risk of
            thiazolidinedione-induced edema in the Diabetes REduction
            Assessment with ramipril and rosiglitazone Medication (DREAM) study
  JOURNAL   Diabetes Care 33 (10), 2250-2253 (2010)
   PUBMED   20628086
  REMARK    GeneRIF: Observational study of gene-disease association,
            gene-environment interaction, and pharmacogenomic / toxicogenomic.
            (HuGE Navigator)
REFERENCE   9  (bases 1 to 3561)
  AUTHORS   Talmud,P.J., Drenos,F., Shah,S., Shah,T., Palmen,J., Verzilli,C.,
            Gaunt,T.R., Pallas,J., Lovering,R., Li,K., Casas,J.P., Sofat,R.,
            Kumari,M., Rodriguez,S., Johnson,T., Newhouse,S.J., Dominiczak,A.,
            Samani,N.J., Caulfield,M., Sever,P., Stanton,A., Shields,D.C.,
            Padmanabhan,S., Melander,O., Hastie,C., Delles,C., Ebrahim,S.,
            Marmot,M.G., Smith,G.D., Lawlor,D.A., Munroe,P.B., Day,I.N.,
            Kivimaki,M., Whittaker,J., Humphries,S.E. and Hingorani,A.D.
  CONSRTM   ASCOT investigators; NORDIL investigators; BRIGHT Consortium
  TITLE     Gene-centric association signals for lipids and apolipoproteins
            identified via the HumanCVD BeadChip
  JOURNAL   Am J Hum Genet 85 (5), 628-642 (2009)
   PUBMED   19913121
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   10 (bases 1 to 3561)
  AUTHORS   Napolitano,C., Mazzanti,A., Bloise,R. and Priori,S.G.
  TITLE     Catecholaminergic Polymorphic Ventricular Tachycardia
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301466
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL833108.1, AC023156.5 and
            BX647590.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On May 17, 2019 this sequence version replaced NM_001010874.4.
            
            Summary: The protein encoded by this gene contains a ubiquitin-like
            domain in the N-terminal region, three transmembrane segments and a
            C-terminal 3-oxo-5-alpha steroid 4-dehydrogenase domain. The
            protein belongs to the steroid 5-alpha reductase family. Mutations
            in this gene result in ventricular tachycardia, catecholaminergic
            polymorphic, 3. [provided by RefSeq, Apr 2017].
            
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (1).
            
            ##Evidence-Data-START##
            Transcript exon combination :: AL833108.1, BX647590.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1968832 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000381210.8/ ENSP00000370607.3
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1507              AL833108.1         12-1518
            1508-2802           AC023156.5         116389-117683       c
            2803-2804           BX647590.1         2748-2749
            2805-3561           AC023156.5         115630-116386       c
FEATURES             Location/Qualifiers
     source          1..3561
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4q13.1"
     gene            1..3561
                     /gene="TECRL"
                     /gene_synonym="CPVT3; GPSN2L; SRD5A2L2; TERL"
                     /note="trans-2,3-enoyl-CoA reductase like"
                     /db_xref="GeneID:253017"
                     /db_xref="HGNC:HGNC:27365"
                     /db_xref="MIM:617242"
     exon            1..333
                     /gene="TECRL"
                     /gene_synonym="CPVT3; GPSN2L; SRD5A2L2; TERL"
                     /inference="alignment:Splign:2.1.0"
     CDS             100..1191
                     /gene="TECRL"
                     /gene_synonym="CPVT3; GPSN2L; SRD5A2L2; TERL"
                     /note="isoform 1 is encoded by transcript variant 1;
                     glycoprotein, synaptic 2-like; steroid 5 alpha-reductase
                     2-like 2; steroid 5-alpha-reductase 2-like 2 protein"
                     /codon_start=1
                     /product="trans-2,3-enoyl-CoA reductase-like isoform 1"
                     /protein_id="NP_001010874.2"
                     /db_xref="CCDS:CCDS33990.1"
                     /db_xref="GeneID:253017"
                     /db_xref="HGNC:HGNC:27365"
                     /db_xref="MIM:617242"
                     /translation="MFKRHKSLASERKRALLSQRATRFILKDDMRNFHFLSKLVLSAG
                     PLRPTPAVKHSKTTHFEIEIFDAQTRKQICILDKVTQSSTIHDVKQKFHKACPKWYPS
                     RVGLQLECGGPFLKDYITIQSIAASSIVTLYATDLGQQVSWTTVFLAEYTGPLLIYLL
                     FYLRIPCIYDGKESARRLRHPVVHLACFCHCIHYIRYLLETLFVHKVSAGHTPLKNLI
                     MSCAFYWGFTSWIAYYINHPLYTPPSFGNRQITVSAINFLICEAGNHFINVMLSHPNH
                     TGNNACFPSPNYNPFTWMFFLVSCPNYTYEIGSWISFTVMTQTLPVGIFTLLMSIQMS
                     LWAQKKHKIYLRKFNSYIHRKSAMIPFIL"
     exon            334..385
                     /gene="TECRL"
                     /gene_synonym="CPVT3; GPSN2L; SRD5A2L2; TERL"
                     /inference="alignment:Splign:2.1.0"
     exon            386..430
                     /gene="TECRL"
                     /gene_synonym="CPVT3; GPSN2L; SRD5A2L2; TERL"
                     /inference="alignment:Splign:2.1.0"
     exon            431..534
                     /gene="TECRL"
                     /gene_synonym="CPVT3; GPSN2L; SRD5A2L2; TERL"
                     /inference="alignment:Splign:2.1.0"
     exon            535..650
                     /gene="TECRL"
                     /gene_synonym="CPVT3; GPSN2L; SRD5A2L2; TERL"
                     /inference="alignment:Splign:2.1.0"
     exon            651..756
                     /gene="TECRL"
                     /gene_synonym="CPVT3; GPSN2L; SRD5A2L2; TERL"
                     /inference="alignment:Splign:2.1.0"
     exon            757..829
                     /gene="TECRL"
                     /gene_synonym="CPVT3; GPSN2L; SRD5A2L2; TERL"
                     /inference="alignment:Splign:2.1.0"
     exon            830..873
                     /gene="TECRL"
                     /gene_synonym="CPVT3; GPSN2L; SRD5A2L2; TERL"
                     /inference="alignment:Splign:2.1.0"
     exon            874..931
                     /gene="TECRL"
                     /gene_synonym="CPVT3; GPSN2L; SRD5A2L2; TERL"
                     /inference="alignment:Splign:2.1.0"
     exon            932..1017
                     /gene="TECRL"
                     /gene_synonym="CPVT3; GPSN2L; SRD5A2L2; TERL"
                     /inference="alignment:Splign:2.1.0"
     exon            1018..1063
                     /gene="TECRL"
                     /gene_synonym="CPVT3; GPSN2L; SRD5A2L2; TERL"
                     /inference="alignment:Splign:2.1.0"
     exon            1064..3561
                     /gene="TECRL"
                     /gene_synonym="CPVT3; GPSN2L; SRD5A2L2; TERL"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2782..2787
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TECRL"
                     /gene_synonym="CPVT3; GPSN2L; SRD5A2L2; TERL"
                     /note="hexamer: AATAAA"
     polyA_site      2804
                     /gene="TECRL"
                     /gene_synonym="CPVT3; GPSN2L; SRD5A2L2; TERL"
                     /note="major polyA site"
     regulatory      2965..2970
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TECRL"
                     /gene_synonym="CPVT3; GPSN2L; SRD5A2L2; TERL"
                     /note="hexamer: ATTAAA"
     polyA_site      2985
                     /gene="TECRL"
                     /gene_synonym="CPVT3; GPSN2L; SRD5A2L2; TERL"
ORIGIN      
        1 acctttcaaa ggttctccag cagtatttaa ctgatgcaaa aggaacacac ttgcaatttt
       61 ctacttttga catgacagac cctcctctta gttcacacaa tgttcaaaag gcacaagtcc
      121 ctcgcttcgg aacgcaagag agcattactt tcccaaagag ctacacggtt catactgaag
      181 gatgatatga gaaattttca ctttttgtca aaacttgtac tctcagcggg ccctctaaga
      241 ccaactccag cagtcaaaca ttcaaaaacg actcactttg agattgaaat atttgatgct
      301 caaacaagga aacagatatg tattctggat aaggtgacac aatcatctac tattcatgat
      361 gttaagcaaa agtttcacaa agcatgtcca aagtggtacc cttctcgagt tggtctgcag
      421 ctagaatgtg gcgggccttt tttgaaggac tacattacca ttcaaagtat tgcagcttcc
      481 tccattgtca cactgtatgc tacagaccta ggtcaacaag tcagttggac cacagtgttt
      541 ttggctgaat acacaggacc tctgctaata tacctcctct tttatttgag gatcccatgt
      601 atatatgatg gaaaagagag tgctagaaga ttacgccacc cagtggtaca cttggcttgc
      661 ttctgtcatt gtatacacta catccgatac cttttggaaa ccttatttgt tcacaaagtt
      721 tctgcaggac acacaccttt gaaaaatttg ataatgagtt gtgcctttta ctggggattt
      781 acttcttgga ttgcctacta cattaatcat ccactatata caccaccatc atttggaaac
      841 aggcaaatca cagtatctgc tatcaatttt ctgatttgtg aagctgggaa tcatttcatc
      901 aatgtaatgt tgtctcatcc caatcacaca ggaaacaatg cctgtttccc aagtccaaat
      961 tataacccct tcacatggat gtttttcctg gtttcatgtc ctaactacac ctatgagatt
     1021 ggatcatgga ttagtttcac agtcatgaca caaacactgc cagttggaat ttttacactt
     1081 ctgatgagta tccagatgtc tttgtgggca caaaagaaac ataagattta tctgagaaaa
     1141 ttcaattcat atattcatag aaaatcagca atgattccat tcatattgta aaaaaagaat
     1201 cttatctcct atagaaaaca gcaacatata aattcaataa ataagactta gttaaggata
     1261 gttaactatt atactccaac aattcatgag caacagtata tacactgagt aaaaatataa
     1321 aatagtaaaa tttcactaaa tttagagaaa tgcacatggt aataaaaagt ataaattata
     1381 aatgcaatta actaagaaca gctctgaatg tatttgcatg ggattggtcc ttgaataaaa
     1441 ttgtcttact tcattaatac ttcacaatac tatttgcata agacaaaata ccacagcaaa
     1501 aaaaaaaatc tgattaacaa atgaaaaagc gatctgaaca gacatttccc aaaggaagac
     1561 atatacatgg tcaataagta tatttttaaa atgctcaaca ttaactattc atacagaaat
     1621 gcaaatcaaa accacaatga gatatcatct catcctaatt aaggtgacta ttttcaaaaa
     1681 gacaaaaaat atgacagccg tggtggttca tatctgtaat cctaacactt tgacaggcca
     1741 aggcagggga attgcttgag ttcagaagtt tgagatctgg gcaacatatt gagactctgt
     1801 ctctaaaaag catattgaga ctctgtctct acaaaaaaat tttaaaaagt aaaaattagc
     1861 tgggcgtggt ggcacatgcc agtaggtagt cccagctact cgaggttgct ccagctcagg
     1921 cgttcaaggc tacagagagc catgattaaa ccaaggcact ccagcctggg tgacagagtg
     1981 agactgtctc aaaataaaat aaaaataaca tattggtgaa gatgcgggaa aaaaaaaaga
     2041 actcttagac actgctggtg ggaatgtaaa ctagagcagc catgtggaga acaacatgga
     2101 ctttcttcaa aaattacaaa tagaactatc atatgatcca gcaataccat tactggaaaa
     2161 aggaaatctg tatattaaag agacatttga accctatgtt tactgcagca ctattcacaa
     2221 tagccaagat ataggagcaa cctaggtgtc caacaacaga tgaatggata aagaaaatgt
     2281 ggtatatata cacaatagaa tactatgcag ccataaaaac tgaattcctg tcattcagga
     2341 caacatggat ggaattggag ggcatatgtt aagtgaaaca agccaggaac agaaagttaa
     2401 acattgcatg ttattactta tatgtggaag ctaaaaaaat tgatatcata gaagtaaaaa
     2461 ataaaacaga ggatactaca ggctgggaaa gctgcagcaa agggagacta gagagagatt
     2521 tgttaaagga tacaaagtta cagcttggta ggaggaataa tttctggtgt tctataccac
     2581 tgtaggacga ctatagttaa gaacattata ttccatttag tttcaaatag ctaaaaggag
     2641 attttgtccc caacaaaaag aaatgataaa tatttgaaac catggatact ctaatttctc
     2701 tgatctgacc actataaatt atatgtattg aaacattatt atgtatctcc caaatatgtt
     2761 caattcttat gtcgctcaaa aaataaaatt taatttaaaa agtatctgat ttttaaagta
     2821 aatatttttt aaagttttga catttaaatt acttgaatct cattattttg acaataattt
     2881 aattctttta ttgttcaatc tgttagtgag atgtgtcata ggtattatgt cattagttca
     2941 aattcttgcg gaaattatag ctatattaaa agtgtaacat ttttatttag ttgtgtactt
     3001 atttgttaat aatacagaca ttgtatgtta tcatactgaa atttacaatt aaaatatttt
     3061 ctgtagatta tttgaaaatc attctaaata tatattttga aatatataga ttatatttgt
     3121 atgtaaatta tatttataca tcttctgaaa tatatttcaa aatatgtgtg tacgtgtgta
     3181 tatgtgtata tatatacaca tatatataca catacacaaa tatatgcata tttcaaatgg
     3241 attgtatgca cttgcaaagc aaaagtacat tggtaatttg ggcacattca gagtggaaaa
     3301 aatttgttct atttttacat ctttaaatac ctatcttcta tgaaagccta tgtgcatgtg
     3361 tgtgtgtgta tgagtttcta tgtgagcatg catatatact tcacaaagag atgacctata
     3421 taaatcaaag tacacattat ttaaaatatt taaaaaaatt ttcagtttct tcatttttaa
     3481 attgtgattt ttagatttgt tagtctatgg agtattttca attctcagat tatacatatg
     3541 ttataaaata tgttcattaa a
//
