LOCUS       NM_000116               1906 bp    mRNA    linear   PRI 09-FEB-2025
DEFINITION  Homo sapiens tafazzin, phospholipid-lysophospholipid transacylase
            (TAFAZZIN), transcript variant 1, mRNA.
ACCESSION   NM_000116
VERSION     NM_000116.5
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 1906)
  AUTHORS   Aravamudhan,A., Dieffenbach,P.B., Choi,K.M., Link,P.A.,
            Meridew,J.A., Haak,A.J., Fredenburgh,L.E. and Tschumperlin,D.J.
  TITLE     Non-canonical IKB kinases regulate YAP/TAZ and pathological
            vascular remodeling behaviors in pulmonary artery smooth muscle
            cells
  JOURNAL   Physiol Rep 12 (7), e15999 (2024)
   PUBMED   38610069
REFERENCE   2  (bases 1 to 1906)
  AUTHORS   Tang,L., Zhou,M., Xu,Y., Peng,B., Gao,Y. and Mo,Y.
  TITLE     Knockdown of CCM3 promotes angiogenesis through activation and
            nuclear translocation of YAP/TAZ
  JOURNAL   Biochem Biophys Res Commun 701, 149525 (2024)
   PUBMED   38320423
REFERENCE   3  (bases 1 to 1906)
  AUTHORS   Weiler,S.M.E., Bissinger,M., Rose,F., von Bubnoff,F., Lutz,T.,
            Ori,A., Schirmacher,P. and Breuhahn,K.
  TITLE     SEPTIN10-mediated crosstalk between cytoskeletal networks controls
            mechanotransduction and oncogenic YAP/TAZ signaling
  JOURNAL   Cancer Lett 584, 216637 (2024)
   PUBMED   38242197
REFERENCE   4  (bases 1 to 1906)
  AUTHORS   Ikari,N., Honjo,K., Sagami,Y., Nakamura,Y. and Arakawa,H.
  TITLE     Mieap forms membrane-less organelles involved in cardiolipin
            metabolism
  JOURNAL   iScience 27 (2), 108916 (2024)
   PUBMED   38322995
  REMARK    Publication Status: Online-Only
REFERENCE   5  (bases 1 to 1906)
  AUTHORS   Gedeon,A.K., Wilson,M.J., Colley,A.C., Sillence,D.O. and
            Mulley,J.C.
  TITLE     X linked fatal infantile cardiomyopathy maps to Xq28 and is
            possibly allelic to Barth syndrome
  JOURNAL   J Med Genet 32 (5), 383-388 (1995)
   PUBMED   7616547
REFERENCE   6  (bases 1 to 1906)
  AUTHORS   Christodoulou,J., McInnes,R.R., Jay,V., Wilson,G., Becker,L.E.,
            Lehotay,D.C., Platt,B.A., Bridge,P.J., Robinson,B.H. and
            Clarke,J.T.
  TITLE     Barth syndrome: clinical observations and genetic linkage studies
  JOURNAL   Am J Med Genet 50 (3), 255-264 (1994)
   PUBMED   8042670
REFERENCE   7  (bases 1 to 1906)
  AUTHORS   Bione,S., Tamanini,F., Maestrini,E., Tribioli,C., Poustka,A.,
            Torri,G., Rivella,S. and Toniolo,D.
  TITLE     Transcriptional organization of a 450-kb region of the human X
            chromosome in Xq28
  JOURNAL   Proc Natl Acad Sci U S A 90 (23), 10977-10981 (1993)
   PUBMED   8248200
REFERENCE   8  (bases 1 to 1906)
  AUTHORS   Ferreira,C., Pierre,G., Thompson,R. and Vernon,H.
  TITLE     Barth Syndrome
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   25299040
REFERENCE   9  (bases 1 to 1906)
  AUTHORS   Hershberger,R.E. and Jordan,E.
  TITLE     Dilated Cardiomyopathy Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301486
REFERENCE   10 (bases 1 to 1906)
  AUTHORS   Fixler,D.E., Cole,R.B., Paul,M.H., Lev,M. and Girod,D.A.
  TITLE     Familial occurrence of the contracted form of endocardial
            fibroelastosis
  JOURNAL   Am J Cardiol 26 (2), 208-213 (1970)
   PUBMED   5455540
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL531401.3, X92762.1 and
            BC005062.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_000116.4.
            
            Summary: This gene encodes a protein that is expressed at high
            levels in cardiac and skeletal muscle. Mutations in this gene have
            been associated with a number of clinical disorders including Barth
            syndrome, dilated cardiomyopathy (DCM), hypertrophic DCM,
            endocardial fibroelastosis, and left ventricular noncompaction
            (LVNC). Multiple transcript variants encoding different isoforms
            have been described. A long form and a short form of each of these
            isoforms is produced; the short form lacks a hydrophobic leader
            sequence and may exist as a cytoplasmic protein rather than being
            membrane-bound. Other alternatively spliced transcripts have been
            described but the full-length nature of all these transcripts is
            not known. [provided by RefSeq, Jul 2008].
            
            Transcript Variant: This variant (1) encodes the major isoform (1).
            
            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 :: SRR1163655.12572.1, X92762.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: inferred from homology
            MANE Ensembl match                 :: ENST00000601016.6/
                                                  ENSP00000469981.1
            RefSeq Select criteria             :: based on conservation,
                                                  expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-17                AL531401.3         22-38
            18-1900             X92762.1           1-1883
            1901-1906           BC005062.1         1895-1900
FEATURES             Location/Qualifiers
     source          1..1906
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xq28"
     gene            1..1906
                     /gene="TAFAZZIN"
                     /gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
                     Taz1"
                     /note="tafazzin, phospholipid-lysophospholipid
                     transacylase"
                     /db_xref="GeneID:6901"
                     /db_xref="HGNC:HGNC:11577"
                     /db_xref="MIM:300394"
     exon            1..414
                     /gene="TAFAZZIN"
                     /gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
                     Taz1"
                     /inference="alignment:Splign:2.1.0"
     CDS             306..1184
                     /gene="TAFAZZIN"
                     /gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
                     Taz1"
                     /note="isoform 1 is encoded by transcript variant 1;
                     protein G4.5"
                     /codon_start=1
                     /product="tafazzin isoform 1"
                     /protein_id="NP_000107.1"
                     /db_xref="CCDS:CCDS14748.1"
                     /db_xref="GeneID:6901"
                     /db_xref="HGNC:HGNC:11577"
                     /db_xref="MIM:300394"
                     /translation="MPLHVKWPFPAVPPLTWTLASSVVMGLVGTYSCFWTKYMNHLTV
                     HNREVLYELIEKRGPATPLITVSNHQSCMDDPHLWGILKLRHIWNLKLMRWTPAAADI
                     CFTKELHSHFFSLGKCVPVCRGAEFFQAENEGKGVLDTGRHMPGAGKRREKGDGVYQK
                     GMDFILEKLNHGDWVHIFPEGKVNMSSEFLRFKWGIGRLIAECHLNPIILPLWHVGMN
                     DVLPNSPPYFPRFGQKITVLIGKPFSALPVLERLRAENKSAVEMRKALTDFIQEEFQH
                     LKTQAEQLHNHLQPGR"
     exon            415..543
                     /gene="TAFAZZIN"
                     /gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
                     Taz1"
                     /inference="alignment:Splign:2.1.0"
     exon            544..589
                     /gene="TAFAZZIN"
                     /gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
                     Taz1"
                     /inference="alignment:Splign:2.1.0"
     exon            590..675
                     /gene="TAFAZZIN"
                     /gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
                     Taz1"
                     /inference="alignment:Splign:2.1.0"
     exon            676..765
                     /gene="TAFAZZIN"
                     /gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
                     Taz1"
                     /inference="alignment:Splign:2.1.0"
     exon            766..846
                     /gene="TAFAZZIN"
                     /gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
                     Taz1"
                     /inference="alignment:Splign:2.1.0"
     exon            847..888
                     /gene="TAFAZZIN"
                     /gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
                     Taz1"
                     /inference="alignment:Splign:2.1.0"
     exon            889..951
                     /gene="TAFAZZIN"
                     /gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
                     Taz1"
                     /inference="alignment:Splign:2.1.0"
     exon            952..1004
                     /gene="TAFAZZIN"
                     /gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
                     Taz1"
                     /inference="alignment:Splign:2.1.0"
     exon            1005..1082
                     /gene="TAFAZZIN"
                     /gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
                     Taz1"
                     /inference="alignment:Splign:2.1.0"
     exon            1083..1906
                     /gene="TAFAZZIN"
                     /gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
                     Taz1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1876..1881
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TAFAZZIN"
                     /gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
                     Taz1"
                     /note="hexamer: CATAAA"
     polyA_site      1906
                     /gene="TAFAZZIN"
                     /gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
                     Taz1"
                     /note="major polyA site"
ORIGIN      
        1 gctttccggc ggttgcaccg ggccggggtg ccagcgcccg ccttcccgtt tcctcccgtt
       61 ccgcagcgcg cccacggcct gtgaccccgg cgaccgctcc ccagtgacga gagagcgggg
      121 ccgggcgctg ctccggcctg acctgcgaag ggacctcggt ccagtcccct gttgcgccgc
      181 gcccccgtcc gtccgtgcgc gggccagtca ggggccagtg tctcgagcgg tcgaggtcgc
      241 agacctagag gcgccccaca ggccggcccg gggcgctggg agcgccggcc gcgggccggg
      301 tggggatgcc tctgcacgtg aagtggccgt tccccgcggt gccgccgctc acctggaccc
      361 tggccagcag cgtcgtcatg ggcttggtgg gcacctacag ctgcttctgg accaagtaca
      421 tgaaccacct gaccgtgcac aacagggagg tgctgtacga gctcatcgag aagcgaggcc
      481 cggccacgcc cctcatcacc gtgtccaatc accagtcctg catggacgac cctcatctct
      541 gggggatcct gaaactccgc cacatctgga acctgaagtt gatgcgttgg acccctgcag
      601 ctgcagacat ctgcttcacc aaggagctac actcccactt cttcagcttg ggcaagtgtg
      661 tgcctgtgtg ccgaggagca gaatttttcc aagcagagaa tgaggggaaa ggtgttctag
      721 acacaggcag gcacatgcca ggtgctggaa aaagaagaga gaaaggagat ggcgtctacc
      781 agaaggggat ggacttcatt ttggagaagc tcaaccatgg ggactgggtg catatcttcc
      841 cagaagggaa agtgaacatg agttccgaat tcctgcgttt caagtgggga atcgggcgcc
      901 tgattgctga gtgtcatctc aaccccatca tcctgcccct gtggcatgtc ggaatgaatg
      961 acgtccttcc taacagtccg ccctacttcc cccgctttgg acagaaaatc actgtgctga
     1021 tcgggaagcc cttcagtgcc ctgcctgtac tcgagcggct ccgggcggag aacaagtcgg
     1081 ctgtggagat gcggaaagcc ctgacggact tcattcaaga ggaattccag catctgaaga
     1141 ctcaggcaga gcagctccac aaccacctcc agcctgggag ataggccttg cttgctgcct
     1201 tctggattct tggcccgcac agagctgggg ctgagggatg gactgatgct tttagctcaa
     1261 acgtggcttt tagacagatt tgttcataga ccctctcaag tgccctctcc gagctggtag
     1321 gcattccagc tcctccgtgc ttcctcagtt acacaaagga cctcagctgc ttctcccact
     1381 tggccaagca gggaggaaga agcttaggca gggctctctt tccttcttgc cttcagatgt
     1441 tctctcccag gggctggctt caggagggag catagaaggc aggtgagcaa ccagttggct
     1501 aggggagcag ggggcccacc agagctgtgg agaggggacc ctaagactcc tcggcctggc
     1561 tcctacccac cgcccttgcc gaaccaggag ctgctcacta cctcctcagg gatggccgtt
     1621 ggccacgtct tccttctgcc tgagcttccc ccccaccaca ggccctttcc tcaggcaagg
     1681 tctggcctca ggtgggccgc aggcgggaaa agcagccctt ggccagaagt caagcccagc
     1741 cacgtggagc ctagagtgag ggcctgaggt ctggctgctt gcccccatgc tggcgccaac
     1801 aacttctcca tcctttctgc ctctcaacat cacttgaatc ctagggcctg ggttttcatg
     1861 tttttgaaac agaaccataa agcatatgtg ttggcttgtt gtaaaa
//
