TECRL_HUMAN
ID TECRL_HUMAN Reviewed; 363 AA.
AC Q5HYJ1;
DT 05-FEB-2008, integrated into UniProtKB/Swiss-Prot.
DT 15-FEB-2005, sequence version 1.
DT 03-AUG-2022, entry version 110.
DE RecName: Full=Trans-2,3-enoyl-CoA reductase-like;
DE EC=1.3.1.-;
DE AltName: Full=Steroid 5-alpha-reductase 2-like 2 protein;
GN Name=TECRL; Synonyms=SRD5A2L2;
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].
RC TISSUE=Heart;
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 MRNA].
RC TISSUE=Heart;
RX PubMed=17974005; DOI=10.1186/1471-2164-8-399;
RA Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U.,
RA Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D.,
RA Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A.,
RA Wiemann S., Schupp I.;
RT "The full-ORF clone resource of the German cDNA consortium.";
RL BMC Genomics 8:399-399(2007).
RN [3]
RP TISSUE SPECIFICITY, SUBCELLULAR LOCATION, INVOLVEMENT IN CPVT3, AND VARIANT
RP CPVT3 GLN-196.
RX PubMed=27861123; DOI=10.15252/emmm.201505719;
RA Devalla H.D., Gelinas R., Aburawi E.H., Beqqali A., Goyette P., Freund C.,
RA Chaix M.A., Tadros R., Jiang H., Le Bechec A., Monshouwer-Kloots J.J.,
RA Zwetsloot T., Kosmidis G., Latour F., Alikashani A., Hoekstra M.,
RA Schlaepfer J., Mummery C.L., Stevenson B., Kutalik Z., de Vries A.A.,
RA Rivard L., Wilde A.A., Talajic M., Verkerk A.O., Al-Gazali L., Rioux J.D.,
RA Bhuiyan Z.A., Passier R.;
RT "TECRL, a new life-threatening inherited arrhythmia gene associated with
RT overlapping clinical features of both LQTS and CPVT.";
RL EMBO Mol. Med. 8:1390-1408(2016).
RN [4]
RP VARIANT HIS-169.
RX PubMed=25787250; DOI=10.1073/pnas.1503696112;
RA Cromer M.K., Choi M., Nelson-Williams C., Fonseca A.L., Kunstman J.W.,
RA Korah R.M., Overton J.D., Mane S., Kenney B., Malchoff C.D., Stalberg P.,
RA Akerstroem G., Westin G., Hellman P., Carling T., Bjoerklund P.,
RA Lifton R.P.;
RT "Neomorphic effects of recurrent somatic mutations in Yin Yang 1 in
RT insulin-producing adenomas.";
RL Proc. Natl. Acad. Sci. U.S.A. 112:4062-4067(2015).
CC -!- SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane
CC protein {ECO:0000305}. Endoplasmic reticulum
CC {ECO:0000269|PubMed:27861123}.
CC -!- TISSUE SPECIFICITY: Predominantly expressed in the heart and skeletal
CC muscle. {ECO:0000269|PubMed:27861123}.
CC -!- DISEASE: Ventricular tachycardia, catecholaminergic polymorphic, 3
CC (CPVT3) [MIM:614021]: An arrhythmogenic disorder characterized by
CC stress-induced, bidirectional ventricular tachycardia that may
CC degenerate into cardiac arrest and cause sudden death. Patients present
CC with recurrent syncope, or sudden death after physical activity or
CC emotional stress. CPVT3 is an autosomal recessive disorder with onset
CC at early age and associated with sudden death in childhood. Patients
CC manifest QT prolongation on adrenergic stimulation.
CC {ECO:0000269|PubMed:27861123}. Note=The disease is caused by variants
CC affecting the gene represented in this entry.
CC -!- SIMILARITY: Belongs to the steroid 5-alpha reductase family.
CC {ECO:0000305}.
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DR EMBL; AK290606; BAF83295.1; -; mRNA.
DR EMBL; BX647590; CAI46063.1; -; mRNA.
DR EMBL; AL833108; CAI46109.1; -; mRNA.
DR CCDS; CCDS33990.1; -.
DR RefSeq; NP_001010874.2; NM_001010874.4.
DR AlphaFoldDB; Q5HYJ1; -.
DR SMR; Q5HYJ1; -.
DR BioGRID; 128951; 1.
DR STRING; 9606.ENSP00000370607; -.
DR iPTMnet; Q5HYJ1; -.
DR PhosphoSitePlus; Q5HYJ1; -.
DR BioMuta; TECRL; -.
DR DMDM; 74707936; -.
DR MassIVE; Q5HYJ1; -.
DR PaxDb; Q5HYJ1; -.
DR PeptideAtlas; Q5HYJ1; -.
DR PRIDE; Q5HYJ1; -.
DR ProteomicsDB; 62939; -.
DR Antibodypedia; 68497; 79 antibodies from 12 providers.
DR DNASU; 253017; -.
DR Ensembl; ENST00000381210.8; ENSP00000370607.3; ENSG00000205678.8.
DR GeneID; 253017; -.
DR KEGG; hsa:253017; -.
DR MANE-Select; ENST00000381210.8; ENSP00000370607.3; NM_001010874.5; NP_001010874.2.
DR UCSC; uc003hcv.4; human.
DR CTD; 253017; -.
DR DisGeNET; 253017; -.
DR GeneCards; TECRL; -.
DR HGNC; HGNC:27365; TECRL.
DR HPA; ENSG00000205678; Tissue enriched (heart).
DR MalaCards; TECRL; -.
DR MIM; 614021; phenotype.
DR MIM; 617242; gene.
DR neXtProt; NX_Q5HYJ1; -.
DR OpenTargets; ENSG00000205678; -.
DR Orphanet; 3286; Catecholaminergic polymorphic ventricular tachycardia.
DR PharmGKB; PA165664664; -.
DR VEuPathDB; HostDB:ENSG00000205678; -.
DR eggNOG; KOG1639; Eukaryota.
DR GeneTree; ENSGT00950000182886; -.
DR HOGENOM; CLU_059260_1_0_1; -.
DR InParanoid; Q5HYJ1; -.
DR OMA; RQVSWTT; -.
DR OrthoDB; 720263at2759; -.
DR PhylomeDB; Q5HYJ1; -.
DR TreeFam; TF300908; -.
DR PathwayCommons; Q5HYJ1; -.
DR Reactome; R-HSA-75876; Synthesis of very long-chain fatty acyl-CoAs.
DR SignaLink; Q5HYJ1; -.
DR BioGRID-ORCS; 253017; 12 hits in 1069 CRISPR screens.
DR ChiTaRS; TECRL; human.
DR GenomeRNAi; 253017; -.
DR Pharos; Q5HYJ1; Tbio.
DR PRO; PR:Q5HYJ1; -.
DR Proteomes; UP000005640; Chromosome 4.
DR RNAct; Q5HYJ1; protein.
DR Bgee; ENSG00000205678; Expressed in myocardium and 104 other tissues.
DR ExpressionAtlas; Q5HYJ1; baseline and differential.
DR Genevisible; Q5HYJ1; HS.
DR GO; GO:0005783; C:endoplasmic reticulum; IDA:UniProtKB.
DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR GO; GO:0016491; F:oxidoreductase activity; IBA:GO_Central.
DR GO; GO:0016627; F:oxidoreductase activity, acting on the CH-CH group of donors; IEA:InterPro.
DR GO; GO:0042761; P:very long-chain fatty acid biosynthetic process; IBA:GO_Central.
DR InterPro; IPR001104; 3-oxo-5_a-steroid_4-DH_C.
DR InterPro; IPR039357; SRD5A/TECR.
DR PANTHER; PTHR10556; PTHR10556; 1.
DR Pfam; PF02544; Steroid_dh; 1.
DR PROSITE; PS50244; S5A_REDUCTASE; 1.
PE 1: Evidence at protein level;
KW Disease variant; Endoplasmic reticulum; Membrane; Oxidoreductase;
KW Phosphoprotein; Reference proteome; Transmembrane; Transmembrane helix.
FT CHAIN 1..363
FT /note="Trans-2,3-enoyl-CoA reductase-like"
FT /id="PRO_0000317713"
FT TRANSMEM 143..163
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 217..237
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 311..331
FT /note="Helical"
FT /evidence="ECO:0000255"
FT MOD_RES 37
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:Q8BFZ1"
FT VARIANT 169
FT /note="Y -> H"
FT /evidence="ECO:0000269|PubMed:25787250"
FT /id="VAR_074183"
FT VARIANT 196
FT /note="R -> Q (in CPVT3; unknown pathological significance;
FT dbSNP:rs773204795)"
FT /evidence="ECO:0000269|PubMed:27861123"
FT /id="VAR_078556"
SQ SEQUENCE 363 AA; 42009 MW; D68F53FC397397AC CRC64;
MFKRHKSLAS ERKRALLSQR ATRFILKDDM RNFHFLSKLV LSAGPLRPTP AVKHSKTTHF
EIEIFDAQTR KQICILDKVT QSSTIHDVKQ KFHKACPKWY PSRVGLQLEC GGPFLKDYIT
IQSIAASSIV TLYATDLGQQ VSWTTVFLAE YTGPLLIYLL FYLRIPCIYD GKESARRLRH
PVVHLACFCH CIHYIRYLLE TLFVHKVSAG HTPLKNLIMS CAFYWGFTSW IAYYINHPLY
TPPSFGNRQI TVSAINFLIC EAGNHFINVM LSHPNHTGNN ACFPSPNYNP FTWMFFLVSC
PNYTYEIGSW ISFTVMTQTL PVGIFTLLMS IQMSLWAQKK HKIYLRKFNS YIHRKSAMIP
FIL
