LOCUS       NM_028766               2899 bp    mRNA    linear   ROD 06-JUN-2024
DEFINITION  Mus musculus transmembrane protein 43 (Tmem43), mRNA.
ACCESSION   NM_028766
VERSION     NM_028766.3
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 2899)
  AUTHORS   Adams,D.J., Barlas,B., McIntyre,R.E., Salguero,I., van der
            Weyden,L., Barros,A., Vicente,J.R., Karimpour,N., Haider,A.,
            Ranzani,M., Turner,G., Thompson,N.A., Harle,V., Olvera-Leon,R.,
            Robles-Espinoza,C.D., Speak,A.O., Geisler,N., Weninger,W.J.,
            Geyer,S.H., Hewinson,J., Karp,N.A., Fu,B., Yang,F., Kozik,Z.,
            Choudhary,J., Yu,L., van Ruiten,M.S., Rowland,B.D., Lelliott,C.J.,
            Del Castillo Velasco-Herrera,M., Verstraten,R., Bruckner,L.,
            Henssen,A.G., Rooimans,M.A., de Lange,J., Mohun,T.J., Arends,M.J.,
            Kentistou,K.A., Coelho,P.A., Zhao,Y., Zecchini,H., Perry,J.R.B.,
            Jackson,S.P. and Balmus,G.
  CONSRTM   Sanger Mouse Genetics Project
  TITLE     Genetic determinants of micronucleus formation in vivo
  JOURNAL   Nature 627 (8002), 130-136 (2024)
   PUBMED   38355793
REFERENCE   2  (bases 1 to 2899)
  AUTHORS   Gu,Y., Yao,Y.R., Ding,Y. and Zhang,X.W.
  TITLE     Reduced expression of transmembrane protein 43 during cardiac
            hypertrophy leads to worsening heart failure in mice
  JOURNAL   Exp Biol Med (Maywood) 248 (17), 1437-1445 (2023)
   PUBMED   37697676
  REMARK    GeneRIF: Reduced expression of transmembrane protein 43 during
            cardiac hypertrophy leads to worsening heart failure in mice.
REFERENCE   3  (bases 1 to 2899)
  AUTHORS   Orgil,B.O., Munkhsaikhan,U., Pierre,J.F., Li,N., Xu,F.,
            Alberson,N.R., Johnson,J.N., Wetzel,G.T., Boukens,B.J.D., Lu,L.,
            Towbin,J.A. and Purevjav,E.
  TITLE     The TMEM43 S358L mutation affects cardiac, small intestine, and
            metabolic homeostasis in a knock-in mouse model
  JOURNAL   Am J Physiol Heart Circ Physiol 324 (6), H866-H880 (2023)
   PUBMED   37083466
  REMARK    GeneRIF: The TMEM43 S358L mutation affects cardiac, small
            intestine, and metabolic homeostasis in a knock-in mouse model.
REFERENCE   4  (bases 1 to 2899)
  AUTHORS   Chen,Z., Cao,Z., Gui,F., Zhang,M., Wu,X., Peng,H., Yu,B., Li,W.,
            Ai,F. and Zhang,J.
  TITLE     TMEM43 Protects against Sepsis-Induced Cardiac Injury via
            Inhibiting Ferroptosis in Mice
  JOURNAL   Cells 11 (19), 2992 (2022)
   PUBMED   36230956
  REMARK    GeneRIF: TMEM43 Protects against Sepsis-Induced Cardiac Injury via
            Inhibiting Ferroptosis in Mice.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 2899)
  AUTHORS   Rouhi,L., Cheedipudi,S.M., Chen,S.N., Fan,S., Lombardi,R., Chen,X.,
            Coarfa,C., Robertson,M.J., Gurha,P. and Marian,A.J.
  TITLE     Haploinsufficiency of Tmem43 in cardiac myocytes activates the DNA
            damage response pathway leading to a late-onset
            senescence-associated pro-fibrotic cardiomyopathy
  JOURNAL   Cardiovasc Res 117 (11), 2377-2394 (2021)
   PUBMED   33070193
  REMARK    GeneRIF: Haploinsufficiency of Tmem43 in cardiac myocytes activates
            the DNA damage response pathway leading to a late-onset
            senescence-associated pro-fibrotic cardiomyopathy.
REFERENCE   6  (bases 1 to 2899)
  AUTHORS   Jang,M.W., Oh,D.Y., Yi,E., Liu,X., Ling,J., Kim,N., Sharma,K.,
            Kim,T.Y., Lee,S., Kim,A.R., Kim,M.Y., Kim,M.A., Lee,M., Han,J.H.,
            Han,J.J., Park,H.R., Kim,B.J., Lee,S.Y., Woo,D.H., Oh,J., Oh,S.J.,
            Du,T., Koo,J.W., Oh,S.H., Shin,H.W., Seong,M.W., Lee,K.Y.,
            Kim,U.K., Shin,J.B., Sang,S., Cai,X., Mei,L., He,C., Blanton,S.H.,
            Chen,Z.Y., Chen,H., Liu,X., Nourbakhsh,A., Huang,Z., Kang,K.W.,
            Park,W.Y., Feng,Y., Lee,C.J. and Choi,B.Y.
  TITLE     A nonsense TMEM43 variant leads to disruption of connexin-linked
            function and autosomal dominant auditory neuropathy spectrum
            disorder
  JOURNAL   Proc Natl Acad Sci U S A 118 (22) (2021)
   PUBMED   34050020
REFERENCE   7  (bases 1 to 2899)
  AUTHORS   Zheng,G., Jiang,C., Li,Y., Yang,D., Ma,Y., Zhang,B., Li,X.,
            Zhang,P., Hu,X., Zhao,X., Du,J. and Lin,X.
  TITLE     TMEM43-S358L mutation enhances NF-kappaB-TGFbeta signal cascade in
            arrhythmogenic right ventricular dysplasia/cardiomyopathy
  JOURNAL   Protein Cell 10 (2), 104-119 (2019)
   PUBMED   29980933
  REMARK    GeneRIF: The authors show that TMEM43-S358L mutation up-regulates
            NF-kappaB (nuclear factor kappaappa B)-TGFbeta (transforming growth
            factor beta 1) signal cascade during arrhythmogenic right
            ventricular dysplasia cardiac fibrosis in mice.
REFERENCE   8  (bases 1 to 2899)
  AUTHORS   Stroud,M.J., Fang,X., Zhang,J., Guimaraes-Camboa,N., Veevers,J.,
            Dalton,N.D., Gu,Y., Bradford,W.H., Peterson,K.L., Evans,S.M.,
            Gerace,L. and Chen,J.
  TITLE     Luma is not essential for murine cardiac development and function
  JOURNAL   Cardiovasc Res 114 (3), 378-388 (2018)
   PUBMED   29040414
  REMARK    GeneRIF: Luma is dispensable for murine cardiac development and
            function, and that the Luma S358L mutation alone may not cause
            cardiomyopathy in mice.
REFERENCE   9  (bases 1 to 2899)
  AUTHORS   Masuda,T., Kai,N., Sakuma,C., Kobayashi,K., Koga,H. and Yaginuma,H.
  TITLE     Laser capture microdissection and cDNA array analysis for
            identification of mouse KIAA/FLJ genes differentially expressed in
            the embryonic dorsal spinal cord
  JOURNAL   Brain Res 1249, 61-67 (2009)
   PUBMED   19026994
REFERENCE   10 (bases 1 to 2899)
  AUTHORS   Bengtsson,L. and Otto,H.
  TITLE     LUMA interacts with emerin and influences its distribution at the
            inner nuclear membrane
  JOURNAL   J Cell Sci 121 (Pt 4), 536-548 (2008)
   PUBMED   18230648
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BY152013.1, AK004778.1, AK168559.1 and BB035729.1.
            
            On May 29, 2018 this sequence version replaced NM_028766.2.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1660819.132911.1, AK050173.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMN00849374, SAMN00849375
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-44                BY152013.1         2-45
            45-2084             AK004778.1         2-2041
            2085-2894           AK168559.1         2049-2858
            2895-2899           BB035729.1         225-229
FEATURES             Location/Qualifiers
     source          1..2899
                     /organism="Mus musculus"
                     /mol_type="mRNA"
                     /strain="C57BL/6"
                     /db_xref="taxon:10090"
                     /chromosome="6"
                     /map="6 40.54 cM"
     gene            1..2899
                     /gene="Tmem43"
                     /gene_synonym="1200015A22Rik; LUMA"
                     /note="transmembrane protein 43"
                     /db_xref="GeneID:74122"
                     /db_xref="MGI:MGI:1921372"
     exon            1..192
                     /gene="Tmem43"
                     /gene_synonym="1200015A22Rik; LUMA"
                     /inference="alignment:Splign:2.1.0"
     CDS             181..1383
                     /gene="Tmem43"
                     /gene_synonym="1200015A22Rik; LUMA"
                     /EC_number="2.7.1.21"
                     /codon_start=1
                     /product="transmembrane protein 43"
                     /protein_id="NP_083042.1"
                     /db_xref="CCDS:CCDS20368.1"
                     /db_xref="GeneID:74122"
                     /db_xref="MGI:MGI:1921372"
                     /translation="MAANYSSTSSRKEHVKVTSEPQPGFLERLSETSGGMFVGLMTFL
                     LSFYLIFTNEGRALKTATSLAEGLSLVVSPDSIHSVAPENEGRLVHIIGALRTSKLLS
                     DPNYGVHLPAVKLRRHVEMYQWVETEESSEYTEDGQVKKETKYSYNTEWRSEIVNSRN
                     FDREIGHKNPSAMAVESFTATAPFVQIGRFFLSAGLIDKIDNFKALSLAKLEDPHVDI
                     IRRGDFFYHSENPKYPEVGDVRVSFSYAGLSSDDPDLGPAHVVTVIARQRGDQLIPYS
                     TKSGDTLLLLHHGDFSAEEVFRREQKSNSMKTWGLRAAGWMAMFMGLNLMTRILYTLV
                     DWFPVFRDLVNIGLKAFAFCVATSLTLLTVAAGWLFYRPLWAALIGCLALVPIIIART
                     RVPAKKLE"
     exon            193..342
                     /gene="Tmem43"
                     /gene_synonym="1200015A22Rik; LUMA"
                     /inference="alignment:Splign:2.1.0"
     exon            343..477
                     /gene="Tmem43"
                     /gene_synonym="1200015A22Rik; LUMA"
                     /inference="alignment:Splign:2.1.0"
     exon            478..572
                     /gene="Tmem43"
                     /gene_synonym="1200015A22Rik; LUMA"
                     /inference="alignment:Splign:2.1.0"
     exon            573..622
                     /gene="Tmem43"
                     /gene_synonym="1200015A22Rik; LUMA"
                     /inference="alignment:Splign:2.1.0"
     exon            623..692
                     /gene="Tmem43"
                     /gene_synonym="1200015A22Rik; LUMA"
                     /inference="alignment:Splign:2.1.0"
     exon            693..763
                     /gene="Tmem43"
                     /gene_synonym="1200015A22Rik; LUMA"
                     /inference="alignment:Splign:2.1.0"
     exon            764..885
                     /gene="Tmem43"
                     /gene_synonym="1200015A22Rik; LUMA"
                     /inference="alignment:Splign:2.1.0"
     exon            886..960
                     /gene="Tmem43"
                     /gene_synonym="1200015A22Rik; LUMA"
                     /inference="alignment:Splign:2.1.0"
     exon            961..1062
                     /gene="Tmem43"
                     /gene_synonym="1200015A22Rik; LUMA"
                     /inference="alignment:Splign:2.1.0"
     exon            1063..1180
                     /gene="Tmem43"
                     /gene_synonym="1200015A22Rik; LUMA"
                     /inference="alignment:Splign:2.1.0"
     exon            1181..2899
                     /gene="Tmem43"
                     /gene_synonym="1200015A22Rik; LUMA"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2341..2346
                     /regulatory_class="polyA_signal_sequence"
                     /gene="Tmem43"
                     /gene_synonym="1200015A22Rik; LUMA"
                     /note="hexamer: AATAAA"
     polyA_site      2365
                     /gene="Tmem43"
                     /gene_synonym="1200015A22Rik; LUMA"
     regulatory      2865..2870
                     /regulatory_class="polyA_signal_sequence"
                     /gene="Tmem43"
                     /gene_synonym="1200015A22Rik; LUMA"
                     /note="hexamer: AATAAA"
     polyA_site      2895
                     /gene="Tmem43"
                     /gene_synonym="1200015A22Rik; LUMA"
                     /note="major polyA site"
ORIGIN      
        1 gcagacaact tgaggcttag gcagggcggt aacttttgtc ctgcgtcccg ccaggtcctg
       61 gattccacga gaagtcttgc agctctgtgg cagacaggag gtcaccgtat tctgcgttcc
      121 ggtcgtcagc ccaattccta gcggaataga gcaagacggc ggcagcgaac caagcccacc
      181 atggcagcga actattccag taccagcagc aggaaagaac atgtcaaagt gacttctgag
      241 ccccagccag gcttcctgga gcggctgagt gagacttcgg gcgggatgtt cgtggggcta
      301 atgaccttct tactctcctt ctacttaatt ttcaccaacg agggccgagc actgaagaca
      361 gccacatcgc ttgcagaggg gctgtcactc gtggtgtccc ctgacagcat ccatagtgta
      421 gctccggaga atgaaggaag actggtacac ataatcgggg ccctgcggac ttccaagctc
      481 ttgtctgacc caaattatgg ggtccatcta ccagctgtga aactgcgacg gcatgtggag
      541 atgtaccagt gggtggagac agaagagtcc agtgagtaca cggaggacgg acaggtgaag
      601 aaggagacaa agtactccta caacacagag tggaggtcag aaattgtcaa cagcagaaac
      661 tttgaccgag agattggcca caaaaacccc agtgccatgg cagtggagtc tttcacagcg
      721 accgccccct ttgtccagat tggcaggttt tttctctcag caggcctcat tgacaagatt
      781 gacaacttca aggccctgag cctggccaag ctggaggacc cccatgtgga catcattcgc
      841 cgcggagact ttttctacca cagtgaaaac cctaaatacc cggaggttgg tgatgtgcga
      901 gtctcctttt cttatgcggg actgagcagc gatgaccctg acctgggccc ggctcacgtg
      961 gttactgtga ttgcccggca acgaggtgac caactaatcc catattccac caagtccggg
     1021 gacaccttgt tgctcctgca ccatggggac ttctcagctg aggaggtgtt tcgtagagaa
     1081 cagaagagca attccatgaa gacatggggc ctgcgggcgg ctggatggat ggccatgttt
     1141 atgggcctca acctcatgac acggatcctc tacaccctag tggactggtt tcctgtcttc
     1201 cgagaccttg tcaacattgg cctgaaagcc tttgccttct gtgtggccac ttccctgacc
     1261 ctgttgactg tggctgctgg ctggctcttc taccgaccgc tgtgggctgc tctaatcggc
     1321 tgcctggctc tggtgcccat tatcattgca cggacccggg tgccagccaa aaagctggag
     1381 tgaagcctga gaggccagat tccctgtcac ctctgcccag ctcagctgga tcaggcatct
     1441 acacacccca ttcttccagg ggccagtgtc cacacctgca tgtagggatt cggtgtcctg
     1501 cttaatgcct tcccctctcg ggcttcattc cacccagctg tcagctgacc tgcgggtgaa
     1561 gggctcagcc ttctcaccca tccctcattg ctggaaccaa gtgccaagac taccacaacc
     1621 atcagctaca actgcaacct gagaaaacag acatcaccct ctactgcggg gccacaccac
     1681 atcagtagga caccccatac ccaggcttgg aggagtgcac gccacaccaa gcctctgggt
     1741 agaatctgat gtggcctgaa gaaaccctga aggtcactgt cactgtggcg ggacagagtg
     1801 cttcggtata agcccgcagg cttctggttc ttggttctat tatgccactt ctccggttct
     1861 ttctatccca aggagagtgt gactgggtca cactcacagt tgctgttact gaaatgaact
     1921 ctgcaggaat ggtgtttcag cgggtgcggc ttgactggtt tgagttcccg aggccaaggg
     1981 gaagctttag ctttgctctg cttttgaacc agtgttgggg gattccctgt cgtgctgggt
     2041 tgggactgtg gaggcggcac cctctttatc ccctgctatc acagatgatc tgttcacttg
     2101 aaggtgattt ttatcttgta gtcagtgtta caagaaaagg ctggaagcat ttctactaag
     2161 cgaggccctt tacagtgacc tccaggcaac tgaagtcaag aatcaggact cgggcttgct
     2221 gcaggaggcc cacgtctggc ctttttctgt gggacacttc tgaccttgac actccggcct
     2281 caagcagttg ctgcagagtg gttctttttg catttaatgc ccatcactat cctcatccca
     2341 aataaaatcc attcatacta gtggacatca tttctaagtt tccttgctac tgttacaccc
     2401 tttgaacgga tgctttagct ctgatgtcgt cacagagcct tggtttatcc tgtacctgtc
     2461 atttctgttt gcaactggtt gctgtagcaa caagagtgtt tggtagctga ccaaggtgtc
     2521 aggatccctg accctagcga tacttaacag ttcttcccat gtcctatggt atctgtgctt
     2581 ttggctgggt aaaagtacag ccagagacgg cttactgggt ttagaatgga aacaacattc
     2641 actactgttc agtgcatgct ggtacaatct cttagaaact cctaagatgg tttgggaaaa
     2701 tacagtgcaa ttagtgatgg ctaaatacac agtgcttggg attcagtctg tgtaacattt
     2761 tcttctgtgt tttttaccag ccagctcaaa agttaagagc aaattatgga agaataattt
     2821 gatgtctttg agaaaccatg aggtttcttt gtattaaaat ttgaaataaa tttctactta
     2881 tcttttggta ttggatctt
//
