LOCUS       NM_181516               1830 bp    mRNA    linear   ROD 04-FEB-2025
DEFINITION  Mus musculus tafazzin, phospholipid-lysophospholipid transacylase
            (Tafazzin), transcript variant 2, mRNA.
ACCESSION   NM_181516 NM_133682
VERSION     NM_181516.6
KEYWORDS    RefSeq; RefSeq Select.
SOURCE      Mus musculus (house mouse)
  ORGANISM  Mus musculus
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha;
            Muroidea; Muridae; Murinae; Mus; Mus.
REFERENCE   1  (bases 1 to 1830)
  AUTHORS   Di Michele,M., Attina,A., Roux,P.F., Tabet,I., Laguesse,S.,
            Florido,J., Houdeville,M., Choquet,A., Encislai,B., Arena,G., De
            Blasio,C., Wendling,O., Frenois,F.X., Papon,L., Stuani,L.,
            Fuentes,M., Jahannault Talignani,C., Rousseau,M., Guegan,J.,
            Buscail,Y., Dupre,P., Michaud,H.A., Rodier,G., Bellvert,F.,
            Kulyk,H., Ferraro Peyret,C., Mathieu,H., Close,P., Rapino,F.,
            Chaveroux,C., Pirot,N., Rubio,L., Torro,A., Sorg,T., Ango,F.,
            Hirtz,C., Compan,V., Lebigot,E., Legati,A., Ghezzi,D., Nguyen,L.,
            David,A., Sardet,C., Lacroix,M. and Le Cam,L.
  TITLE     E4F1 coordinates pyruvate metabolism and the activity of the
            elongator complex to ensure translation fidelity during brain
            development
  JOURNAL   Nat Commun 16 (1), 67 (2025)
   PUBMED   39747033
  REMARK    Publication Status: Online-Only
REFERENCE   2  (bases 1 to 1830)
  AUTHORS   Shihan,M.H., Sharma,S., Cable,C., Prathigudupu,V., Chen,A.,
            Mattis,A.N. and Chen,J.Y.
  TITLE     AMPK stimulation inhibits YAP/TAZ signaling to ameliorate hepatic
            fibrosis
  JOURNAL   Sci Rep 14 (1), 5205 (2024)
   PUBMED   38433278
  REMARK    GeneRIF: AMPK stimulation inhibits YAP/TAZ signaling to ameliorate
            hepatic fibrosis.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 1830)
  AUTHORS   Hong,J., Kirkland,J.M., Acheta,J., Marziali,L.N., Beck,B.,
            Jeanette,H., Bhatia,U., Davis,G., Herron,J., Roue,C.,
            Abi-Ghanem,C., Feltri,M.L., Zuloaga,K.L., Bechler,M.E., Poitelon,Y.
            and Belin,S.
  TITLE     YAP and TAZ regulate remyelination in the central nervous system
  JOURNAL   Glia 72 (1), 156-166 (2024)
   PUBMED   37724047
  REMARK    GeneRIF: YAP and TAZ regulate remyelination in the central nervous
            system.
REFERENCE   4  (bases 1 to 1830)
  AUTHORS   Gershoni,A., Hassin,O., Nataraj,N.B., Baruch,S., Avioz-Seligman,A.,
            Pirona,A.C., Fellus-Alyagor,L., Meir Salame,T., Mukherjee,S.,
            Mallel,G., Yarden,Y., Aylon,Y. and Oren,M.
  TITLE     TAZ facilitates breast tumor growth by promoting an
            immune-suppressive tumor microenvironment
  JOURNAL   Mol Oncol 17 (12), 2675-2693 (2023)
   PUBMED   37716913
REFERENCE   5  (bases 1 to 1830)
  AUTHORS   Leonard,B.C., Park,S., Kim,S., Young,L.J., Jalilian,I., Cosert,K.,
            Zhang,X., Skeie,J.M., Shevalye,H., Echeverria,N., Rozo,V., Gong,X.,
            Xing,C., Murphy,C.J., Greiner,M.A., Mootha,V.V., Raghunathan,V.K.
            and Thomasy,S.M.
  TITLE     Mice Deficient in TAZ (Wwtr1) Demonstrate Clinical Features of
            Late-Onset Fuchs' Endothelial Corneal Dystrophy
  JOURNAL   Invest Ophthalmol Vis Sci 64 (4), 22 (2023)
   PUBMED   37074694
  REMARK    GeneRIF: Mice Deficient in TAZ (Wwtr1) Demonstrate Clinical
            Features of Late-Onset Fuchs' Endothelial Corneal Dystrophy.
REFERENCE   6  (bases 1 to 1830)
  AUTHORS   Soustek,M.S., Falk,D.J., Mah,C.S., Toth,M.J., Schlame,M.,
            Lewin,A.S. and Byrne,B.J.
  TITLE     Characterization of a transgenic short hairpin RNA-induced murine
            model of Tafazzin deficiency
  JOURNAL   Hum Gene Ther 22 (7), 865-871 (2011)
   PUBMED   21091282
REFERENCE   7  (bases 1 to 1830)
  AUTHORS   Nguyen,A.T., Xiao,B., Neppl,R.L., Kallin,E.M., Li,J., Chen,T.,
            Wang,D.Z., Xiao,X. and Zhang,Y.
  TITLE     DOT1L regulates dystrophin expression and is critical for cardiac
            function
  JOURNAL   Genes Dev 25 (3), 263-274 (2011)
   PUBMED   21289070
REFERENCE   8  (bases 1 to 1830)
  AUTHORS   Acehan,D., Vaz,F., Houtkooper,R.H., James,J., Moore,V.,
            Tokunaga,C., Kulik,W., Wansapura,J., Toth,M.J., Strauss,A. and
            Khuchua,Z.
  TITLE     Cardiac and skeletal muscle defects in a mouse model of human Barth
            syndrome
  JOURNAL   J Biol Chem 286 (2), 899-908 (2011)
   PUBMED   21068380
  REMARK    GeneRIF: Tafazzin knockdown mice provide a mammalian model system
            for Barth syndrome in which the pathophysiological relationships
            between altered content of mitochondrial phospholipids,
            ultrastructural abnormalities, myocardial and mitochondrial
            dysfunction
REFERENCE   9  (bases 1 to 1830)
  AUTHORS   Acehan,D., Khuchua,Z., Houtkooper,R.H., Malhotra,A., Kaufman,J.,
            Vaz,F.M., Ren,M., Rockman,H.A., Stokes,D.L. and Schlame,M.
  TITLE     Distinct effects of tafazzin deletion in differentiated and
            undifferentiated mitochondria
  JOURNAL   Mitochondrion 9 (2), 86-95 (2009)
   PUBMED   19114128
  REMARK    GeneRIF: The data suggest that tafazzin deficiency affects
            cardiolipin in all mitochondria, but significant alterations of the
            ultrastructure, such as remodeling and aggregation of inner
            membranes, will only occur after specific differentiation.
REFERENCE   10 (bases 1 to 1830)
  AUTHORS   Lu,B., Kelher,M.R., Lee,D.P., Lewin,T.M., Coleman,R.A., Choy,P.C.
            and Hatch,G.M.
  TITLE     Complex expression pattern of the Barth syndrome gene product
            tafazzin in human cell lines and murine tissues
  JOURNAL   Biochem Cell Biol 82 (5), 569-576 (2004)
   PUBMED   15499385
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL807376.4.
            
            On Mar 19, 2014 this sequence version replaced NM_181516.5.
            
            Summary: This gene encodes a mitochondrial
            phospholipid-lysophospholipid transacylase necessary for normal
            composition and content of cardiolipin. In humans, mutations of
            this gene result in Barth syndrome, most often characterized by
            cardioskeletal myopathy, neutropenia and abnormal mitochondria.
            This gene is distinct from the gene encoding transcriptional
            coactivator with PDZ binding motif. Both genes share the gene
            symbol Taz. Multiple transcript variants encoding different
            isoforms have been described. [provided by RefSeq, Mar 2010].
            
            Transcript Variant: This variant (2) uses an alternate in-frame
            splice site in the 3' coding region, compared to variant 1. This
            results in a shorter protein (isoform 2) compared to isoform 1.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK075615.1, BC015305.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMN00849374, SAMN00849375
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: PMID: 19114128
            RefSeq Select criteria             :: based on conservation,
                                                  expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-399               AL807376.4         65104-65502
            400-528             AL807376.4         65658-65786
            529-574             AL807376.4         66034-66079
            575-660             AL807376.4         66318-66403
            661-741             AL807376.4         70405-70485
            742-783             AL807376.4         70564-70605
            784-846             AL807376.4         70837-70899
            847-899             AL807376.4         71048-71100
            900-977             AL807376.4         71491-71568
            978-1830            AL807376.4         71685-72537
FEATURES             Location/Qualifiers
     source          1..1830
                     /organism="Mus musculus"
                     /mol_type="mRNA"
                     /strain="C57BL/6"
                     /db_xref="taxon:10090"
                     /chromosome="X"
                     /map="X 37.95 cM"
     gene            1..1830
                     /gene="Tafazzin"
                     /gene_synonym="5031411C02Rik; 9130012G04Rik; G4.5; Taz"
                     /note="tafazzin, phospholipid-lysophospholipid
                     transacylase"
                     /db_xref="GeneID:66826"
                     /db_xref="MGI:MGI:109626"
     exon            1..399
                     /gene="Tafazzin"
                     /gene_synonym="5031411C02Rik; 9130012G04Rik; G4.5; Taz"
                     /inference="alignment:Splign:2.1.0"
     CDS             291..1079
                     /gene="Tafazzin"
                     /gene_synonym="5031411C02Rik; 9130012G04Rik; G4.5; Taz"
                     /note="isoform 2 is encoded by transcript variant 2"
                     /codon_start=1
                     /product="tafazzin isoform 2"
                     /protein_id="NP_852657.1"
                     /db_xref="CCDS:CCDS30224.1"
                     /db_xref="GeneID:66826"
                     /db_xref="MGI:MGI:109626"
                     /translation="MPLHVKWPFPAVPRLTWTLASSVVMGLVGTYSCFWTKYMNHLTV
                     HNKEVLYELIENRGPATPLITVSNHQSCMDDPHLWGILKLRHIWNLKLMRWTPAAADI
                     CFTKELHSHFFSLGKCVPVCRGDGVYQKGMDFILEKLNHGDWVHIFPEGKVNMSSEFL
                     RFKWGIGRLIAECHLNPIILPLWHVGMNDVLPNSPPYFPRFGQKITVLIGKPFSTLPV
                     LERLRAENKSAVEMRKALTDFIQEEFQRLKMQAEQLHNHFQPGR"
     exon            400..528
                     /gene="Tafazzin"
                     /gene_synonym="5031411C02Rik; 9130012G04Rik; G4.5; Taz"
                     /inference="alignment:Splign:2.1.0"
     exon            529..574
                     /gene="Tafazzin"
                     /gene_synonym="5031411C02Rik; 9130012G04Rik; G4.5; Taz"
                     /inference="alignment:Splign:2.1.0"
     exon            575..660
                     /gene="Tafazzin"
                     /gene_synonym="5031411C02Rik; 9130012G04Rik; G4.5; Taz"
                     /inference="alignment:Splign:2.1.0"
     exon            661..741
                     /gene="Tafazzin"
                     /gene_synonym="5031411C02Rik; 9130012G04Rik; G4.5; Taz"
                     /inference="alignment:Splign:2.1.0"
     exon            742..783
                     /gene="Tafazzin"
                     /gene_synonym="5031411C02Rik; 9130012G04Rik; G4.5; Taz"
                     /inference="alignment:Splign:2.1.0"
     exon            784..846
                     /gene="Tafazzin"
                     /gene_synonym="5031411C02Rik; 9130012G04Rik; G4.5; Taz"
                     /inference="alignment:Splign:2.1.0"
     exon            847..899
                     /gene="Tafazzin"
                     /gene_synonym="5031411C02Rik; 9130012G04Rik; G4.5; Taz"
                     /inference="alignment:Splign:2.1.0"
     exon            900..977
                     /gene="Tafazzin"
                     /gene_synonym="5031411C02Rik; 9130012G04Rik; G4.5; Taz"
                     /inference="alignment:Splign:2.1.0"
     exon            978..1830
                     /gene="Tafazzin"
                     /gene_synonym="5031411C02Rik; 9130012G04Rik; G4.5; Taz"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1803..1808
                     /regulatory_class="polyA_signal_sequence"
                     /gene="Tafazzin"
                     /gene_synonym="5031411C02Rik; 9130012G04Rik; G4.5; Taz"
                     /note="hexamer: AATAAA"
     polyA_site      1828
                     /gene="Tafazzin"
                     /gene_synonym="5031411C02Rik; 9130012G04Rik; G4.5; Taz"
                     /note="major polyA site"
ORIGIN      
        1 gcaaggacgc ttcctcgagt tgctttccgg ctgattcgtc gagtgaggcc gtcaagactt
       61 ggtttctagt gcgcattgct ttgtacagca gtcccgtctc gtcgcctgag cagcggctct
      121 tctctatcca gagaacagtg ctagggaggt gctgagctgt tccaccaggt gaccttagtc
      181 tagtcctctg ccagtctgtt ggagatcctt ctcctgagtg gtagaggaca tcggctggcc
      241 tggggcaaga ggaactctgg gctccggggg cggggccgga gccggaggag atgcccctcc
      301 atgtgaagtg gccattcccc gcggtgcccc ggctcacctg gactctagcc agcagcgtcg
      361 tcatgggcct agttggcacc tacagctgct tctggaccaa gtacatgaac cacctcaccg
      421 tgcacaacaa ggaagtgctg tatgagctca ttgagaaccg aggccctgcc acccccctta
      481 tcaccgtctc caaccaccag tcttgcatgg atgaccctca tctctggggg atcctaaaac
      541 tccgccacat ctggaacctg aagttgatgc gttggacccc agcagctgca gacatctgct
      601 tcaccaagga gctgcactcc catttcttca gcttgggcaa atgtgtgcct gtgtgtcgag
      661 gagatggtgt ctaccagaaa gggatggact tcattttgga gaagcttaac catggggact
      721 gggtgcacat cttcccagaa gggaaagtaa acatgagttc tgagttcctg cgcttcaaat
      781 ggggaattgg acggctgatt gctgagtgtc atctgaatcc catcatcctg ccactgtggc
      841 atgttggaat gaatgatgtc ctccctaaca gcccacccta cttcccccgc tttggacaga
      901 aaatcaccgt gctgattggg aagcccttca gtacactccc tgtgcttgag cggctccggg
      961 cagagaacaa gtcagctgtg gagatgcgga aagccctcac agacttcatt caagaggaat
     1021 tccagcggct gaagatgcag gcagaacagc tccacaatca tttccagcct ggaagatagg
     1081 ctttgcctgc ccagtctgtg ccctgcagtt cttagccaaa ggaacactgg gtccttcagg
     1141 atttgggaag tggtggtaca ggaacctgac caagcttgct tggctcttta ctgcttttga
     1201 gattcttccc tgtacaaaac tgaggctggg aaatggactg atgcttttaa ttcagataga
     1261 ttggctccca attcctgctg gatacccttt tttattcttg aacatctgac tcctctgggt
     1321 cttgagctaa aagaagagcc ttggctgtcc cttatacttg gtggagaagg aagggacact
     1381 cttaggcagg ggcccccttc tcacctctca gggagggaac agagcaggta gtcaagcaaa
     1441 tagttgggta ggagaacagg tttcttggtc ataggtacag aaagaagact caattggtcc
     1501 cttggatggg ctactacttg cccactgctc acaaacctca tcagggatag ctgtcagcca
     1561 ggtcattcta cctgagctac tgctacaagg tttgtccttg ggtggcctgt agacaagaag
     1621 agaaggtatt ggccaggatt caagcacagc taaacttaac tagatgtttc ttgtatatag
     1681 cagaagaagg acccccaaga cctgaccatt aacccccagt gtcagggcct acctgcttct
     1741 ctaatctttt ttgccttgtc atcctctata tcctgggatc tgggttttaa tgtttttaga
     1801 gtaataaaac atttgtgttg tgccaccata
//
