LOCUS       NM_001407280            3080 bp    mRNA    linear   PRI 05-OCT-2024
DEFINITION  Homo sapiens transmembrane protein 43 (TMEM43), transcript variant
            8, mRNA.
ACCESSION   NM_001407280
VERSION     NM_001407280.1
KEYWORDS    RefSeq.
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 3080)
  AUTHORS   Zink,M., Seewald,A., Rohrbach,M., Brodehl,A., Liedtke,D.,
            Williams,T., Childs,S.J. and Gerull,B.
  TITLE     Altered Expression of TMEM43 Causes Abnormal Cardiac Structure and
            Function in Zebrafish
  JOURNAL   Int J Mol Sci 23 (17), 9530 (2022)
   PUBMED   36076925
  REMARK    GeneRIF: Altered Expression of TMEM43 Causes Abnormal Cardiac
            Structure and Function in Zebrafish.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 3080)
  AUTHORS   Shinomiya,H., Kato,H., Kuramoto,Y., Watanabe,N., Tsuruda,T.,
            Arimura,T., Miyashita,Y., Miyasaka,Y., Mashimo,T., Takuwa,A.,
            Motooka,D., Okuzaki,D., Matsuoka,K., Tsukamoto,O., Hakui,H.,
            Yamada,N., Lee,J.K., Kioka,H., Kitakaze,M., Takashima,S., Sakata,Y.
            and Asano,Y.
  TITLE     Aberrant accumulation of TMEM43 accompanied by perturbed transmural
            gene expression in arrhythmogenic cardiomyopathy
  JOURNAL   FASEB J 35 (11), e21994 (2021)
   PUBMED   34674311
  REMARK    GeneRIF: Aberrant accumulation of TMEM43 accompanied by perturbed
            transmural gene expression in arrhythmogenic cardiomyopathy.
REFERENCE   3  (bases 1 to 3080)
  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
  REMARK    GeneRIF: A nonsense TMEM43 variant leads to disruption of
            connexin-linked function and autosomal dominant auditory neuropathy
            spectrum disorder.
REFERENCE   4  (bases 1 to 3080)
  AUTHORS   Haenig,C., Atias,N., Taylor,A.K., Mazza,A., Schaefer,M.H., Russ,J.,
            Riechers,S.P., Jain,S., Coughlin,M., Fontaine,J.F., Freibaum,B.D.,
            Brusendorf,L., Zenkner,M., Porras,P., Stroedicke,M., Schnoegl,S.,
            Arnsburg,K., Boeddrich,A., Pigazzini,L., Heutink,P., Taylor,J.P.,
            Kirstein,J., Andrade-Navarro,M.A., Sharan,R. and Wanker,E.E.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   5  (bases 1 to 3080)
  AUTHORS   Luck,K., Kim,D.K., Lambourne,L., Spirohn,K., Begg,B.E., Bian,W.,
            Brignall,R., Cafarelli,T., Campos-Laborie,F.J., Charloteaux,B.,
            Choi,D., Cote,A.G., Daley,M., Deimling,S., Desbuleux,A., Dricot,A.,
            Gebbia,M., Hardy,M.F., Kishore,N., Knapp,J.J., Kovacs,I.A.,
            Lemmens,I., Mee,M.W., Mellor,J.C., Pollis,C., Pons,C.,
            Richardson,A.D., Schlabach,S., Teeking,B., Yadav,A., Babor,M.,
            Balcha,D., Basha,O., Bowman-Colin,C., Chin,S.F., Choi,S.G.,
            Colabella,C., Coppin,G., D'Amata,C., De Ridder,D., De Rouck,S.,
            Duran-Frigola,M., Ennajdaoui,H., Goebels,F., Goehring,L., Gopal,A.,
            Haddad,G., Hatchi,E., Helmy,M., Jacob,Y., Kassa,Y., Landini,S.,
            Li,R., van Lieshout,N., MacWilliams,A., Markey,D., Paulson,J.N.,
            Rangarajan,S., Rasla,J., Rayhan,A., Rolland,T., San-Miguel,A.,
            Shen,Y., Sheykhkarimli,D., Sheynkman,G.M., Simonovsky,E., Tasan,M.,
            Tejeda,A., Tropepe,V., Twizere,J.C., Wang,Y., Weatheritt,R.J.,
            Weile,J., Xia,Y., Yang,X., Yeger-Lotem,E., Zhong,Q., Aloy,P.,
            Bader,G.D., De Las Rivas,J., Gaudet,S., Hao,T., Rak,J.,
            Tavernier,J., Hill,D.E., Vidal,M., Roth,F.P. and Calderwood,M.A.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   6  (bases 1 to 3080)
  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
  REMARK    GeneRIF: LUMA (TMEM43) is a highly conserved protein located to
            inner nuclear membrane (INM) and interacting with A- and B-type
            lamins. It is particularly important for anchoring of emerin at the
            INM and may thus contribute to the pathogenesis of laminopathies.
REFERENCE   7  (bases 1 to 3080)
  AUTHORS   Dreger,M., Bengtsson,L., Schoneberg,T., Otto,H. and Hucho,F.
  TITLE     Nuclear envelope proteomics: novel integral membrane proteins of
            the inner nuclear membrane
  JOURNAL   Proc Natl Acad Sci U S A 98 (21), 11943-11948 (2001)
   PUBMED   11593002
REFERENCE   8  (bases 1 to 3080)
  AUTHORS   Li,D., Ahmad,F., Gardner,M.J., Weilbaecher,D., Hill,R., Karibe,A.,
            Gonzalez,O., Tapscott,T., Sharratt,G.P., Bachinski,L.L. and
            Roberts,R.
  TITLE     The locus of a novel gene responsible for arrhythmogenic
            right-ventricular dysplasia characterized by early onset and high
            penetrance maps to chromosome 10p12-p14
  JOURNAL   Am J Hum Genet 66 (1), 148-156 (2000)
   PUBMED   10631146
REFERENCE   9  (bases 1 to 3080)
  AUTHORS   Ahmad,F., Li,D., Karibe,A., Gonzalez,O., Tapscott,T., Hill,R.,
            Weilbaecher,D., Blackie,P., Furey,M., Gardner,M., Bachinski,L.L.
            and Roberts,R.
  TITLE     Localization of a gene responsible for arrhythmogenic right
            ventricular dysplasia to chromosome 3p23
  JOURNAL   Circulation 98 (25), 2791-2795 (1998)
   PUBMED   9860777
REFERENCE   10 (bases 1 to 3080)
  AUTHORS   McNally,E., MacLeod,H. and Dellefave-Castillo,L.
  TITLE     Arrhythmogenic Right Ventricular Cardiomyopathy Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301310
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC090004.2.
            
            Summary: This gene belongs to the TMEM43 family. Defects in this
            gene are the cause of familial arrhythmogenic right ventricular
            dysplasia type 5 (ARVD5), also known as arrhythmogenic right
            ventricular cardiomyopathy type 5 (ARVC5). Arrhythmogenic right
            ventricular dysplasia is an inherited disorder, often involving
            both ventricles, and is characterized by ventricular tachycardia,
            heart failure, sudden cardiac death, and fibrofatty replacement of
            cardiomyocytes. This gene contains a response element for PPAR
            gamma (an adipogenic transcription factor), which may explain the
            fibrofatty replacement of the myocardium, a characteristic
            pathological finding in ARVC. [provided by RefSeq, Oct 2008].
            
            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 :: SRR14038194.3999709.1,
                                           SRR14038195.814442.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMN02400308 [ECO:0000348]
            ##Evidence-Data-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-154               AC090004.2         19615-19768         c
            155-289             AC090004.2         13864-13998         c
            290-384             AC090004.2         13146-13240         c
            385-434             AC090004.2         12225-12274         c
            435-504             AC090004.2         11885-11954         c
            505-575             AC090004.2         11011-11081         c
            576-697             AC090004.2         9929-10050          c
            698-772             AC090004.2         9588-9662           c
            773-874             AC090004.2         8912-9013           c
            875-992             AC090004.2         5523-5640           c
            993-3080            AC090004.2         1140-3227           c
FEATURES             Location/Qualifiers
     source          1..3080
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3p25.1"
     gene            1..3080
                     /gene="TMEM43"
                     /gene_synonym="ARVC5; ARVD5; AUNA2; AUNA3; EDMD7; LUMA"
                     /note="transmembrane protein 43"
                     /db_xref="GeneID:79188"
                     /db_xref="HGNC:HGNC:28472"
                     /db_xref="MIM:612048"
     exon            1..154
                     /gene="TMEM43"
                     /gene_synonym="ARVC5; ARVD5; AUNA2; AUNA3; EDMD7; LUMA"
                     /inference="alignment:Splign:2.1.0"
     CDS             143..1195
                     /gene="TMEM43"
                     /gene_synonym="ARVC5; ARVD5; AUNA2; AUNA3; EDMD7; LUMA"
                     /EC_number="2.7.1.21"
                     /note="isoform 8 is encoded by transcript variant 8"
                     /codon_start=1
                     /product="transmembrane protein 43 isoform 8"
                     /protein_id="NP_001394209.1"
                     /db_xref="GeneID:79188"
                     /db_xref="HGNC:HGNC:28472"
                     /db_xref="MIM:612048"
                     /translation="MAANGRALKTATSLAEGLSLVVSPDSIHSVAPENEGRLVHIIGA
                     LRTSKLLSDPNYGVHLPAVKLRRHVEMYQWVETEESREYTEDGQVKKETRYSYNTEWR
                     SEIINSKNFDREIGHKNPSAMAVESFMATAPFVQIGRFFLSSGLIDKVDNFKSLSLSK
                     LEDPHVDIIRRGDFFYHSENPKYPEVGDLRVSFSYAGLSGDDPDLGPAHVVTVIARQR
                     GDQLVPFSTKSGDTLLLLHHGDFSAEEVFHRELRSNSMKTWGLRAAGWMAMFMGLNLM
                     TRILYTLVDWFPVFRDLVNIGLKAFAFCVATSLTLLTVAAGWLFYRPLWALLIAGLAL
                     VPILVARTRVPAKKLE"
     exon            155..289
                     /gene="TMEM43"
                     /gene_synonym="ARVC5; ARVD5; AUNA2; AUNA3; EDMD7; LUMA"
                     /inference="alignment:Splign:2.1.0"
     exon            290..384
                     /gene="TMEM43"
                     /gene_synonym="ARVC5; ARVD5; AUNA2; AUNA3; EDMD7; LUMA"
                     /inference="alignment:Splign:2.1.0"
     exon            385..434
                     /gene="TMEM43"
                     /gene_synonym="ARVC5; ARVD5; AUNA2; AUNA3; EDMD7; LUMA"
                     /inference="alignment:Splign:2.1.0"
     exon            435..504
                     /gene="TMEM43"
                     /gene_synonym="ARVC5; ARVD5; AUNA2; AUNA3; EDMD7; LUMA"
                     /inference="alignment:Splign:2.1.0"
     exon            505..575
                     /gene="TMEM43"
                     /gene_synonym="ARVC5; ARVD5; AUNA2; AUNA3; EDMD7; LUMA"
                     /inference="alignment:Splign:2.1.0"
     exon            576..697
                     /gene="TMEM43"
                     /gene_synonym="ARVC5; ARVD5; AUNA2; AUNA3; EDMD7; LUMA"
                     /inference="alignment:Splign:2.1.0"
     exon            698..772
                     /gene="TMEM43"
                     /gene_synonym="ARVC5; ARVD5; AUNA2; AUNA3; EDMD7; LUMA"
                     /inference="alignment:Splign:2.1.0"
     exon            773..874
                     /gene="TMEM43"
                     /gene_synonym="ARVC5; ARVD5; AUNA2; AUNA3; EDMD7; LUMA"
                     /inference="alignment:Splign:2.1.0"
     exon            875..992
                     /gene="TMEM43"
                     /gene_synonym="ARVC5; ARVD5; AUNA2; AUNA3; EDMD7; LUMA"
                     /inference="alignment:Splign:2.1.0"
     exon            993..3080
                     /gene="TMEM43"
                     /gene_synonym="ARVC5; ARVD5; AUNA2; AUNA3; EDMD7; LUMA"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2546..2551
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TMEM43"
                     /gene_synonym="ARVC5; ARVD5; AUNA2; AUNA3; EDMD7; LUMA"
                     /note="hexamer: GATAAA"
     polyA_site      2568
                     /gene="TMEM43"
                     /gene_synonym="ARVC5; ARVD5; AUNA2; AUNA3; EDMD7; LUMA"
     regulatory      3062..3067
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TMEM43"
                     /gene_synonym="ARVC5; ARVD5; AUNA2; AUNA3; EDMD7; LUMA"
                     /note="hexamer: AATAAA"
     polyA_site      3080
                     /gene="TMEM43"
                     /gene_synonym="ARVC5; ARVD5; AUNA2; AUNA3; EDMD7; LUMA"
                     /note="major polyA site"
ORIGIN      
        1 gcagtaagtc ccgcttggcc ctggagtcca cgcggatttt cgaagctggg gctggcaaga
       61 ggccgctgga caccacgctc cagtcgtcag cccacttcct agctgaacag cgcgaggcgg
      121 cggcagcgag ccgggtccca ccatggccgc gaatggccgc gcattgaaga cggcaacctc
      181 attggctgag gggctctcgc ttgtggtgtc tcccgacagc atccacagtg tggctccgga
      241 gaatgaagga aggctggtgc acatcattgg cgccttacgg acatccaagc ttttgtctga
      301 tccaaactat ggggtccatc ttccggctgt gaaactgcgg aggcacgtgg agatgtacca
      361 atgggtagaa actgaggagt ccagggagta caccgaggat gggcaggtga agaaggagac
      421 gaggtattcc tacaacactg aatggaggtc agaaatcatc aacagcaaaa acttcgaccg
      481 agagattggc cacaaaaacc ccagtgccat ggcagtggag tcattcatgg caacagcccc
      541 ctttgtccaa attggcaggt ttttcctctc gtcaggcctc atcgacaaag tcgacaactt
      601 caagtccctg agcctatcca agctggagga ccctcatgtg gacatcattc gccgtggaga
      661 ctttttctac cacagcgaaa atcccaagta tccagaggtg ggagacttgc gtgtctcctt
      721 ttcctatgct ggactgagcg gcgatgaccc tgacctgggc ccagctcacg tggtcactgt
      781 gattgcccgg cagcggggtg accagctagt cccattctcc accaagtctg gggatacctt
      841 actgctcctg caccacgggg acttctcagc agaggaggtg tttcatagag aactaaggag
      901 caactccatg aagacctggg gcctgcgggc agctggctgg atggccatgt tcatgggcct
      961 caaccttatg acacggatcc tctacacctt ggtggactgg tttcctgttt tccgagacct
     1021 ggtcaacatt ggcctgaaag cctttgcctt ctgtgtggcc acctcgctga ccctgctgac
     1081 cgtggcggct ggctggctct tctaccgacc cctgtgggcc ctcctcattg ccggcctggc
     1141 ccttgtgccc atccttgttg ctcggacacg ggtgccagcc aaaaagttgg agtgaaaaga
     1201 ccctggcacc cgcccgacac ctgcgtgagc cctaggatcc aggtcctctc tcacctctga
     1261 cccagctcca tgccagagca ggagccccgg tcaattttgg actctgcact ccctctcctc
     1321 ttcaggggcc agacttggca gcatgtgcac caggttggtg ttcaccagct catgtcttcc
     1381 ccacatctct tcttgccagt aagcagcttt ggtgggcagc agcagctcat gaatggcaag
     1441 ctgacagctt ctcctgctgt ttccttcctc tcttggactg agtgggtacg gccagccact
     1501 cagcccattg gcagctgaca acgcagacac gctctacgga ggcctgctga taaagggctc
     1561 agccttgccg tgtgctgctt ctcatcactg cacacaagtg ccatgctttg ccaccaccac
     1621 caagcacatc tgtgatcctg aagggcggcc gttagtcatt actgctgagt cctgggtcac
     1681 cagcagacac actgggcatg gacccctcaa agcaggcaca cccaaaacac aagtctgtgg
     1741 ctagaacctg atgtggtgtt taaaagagaa gaaacactga agatgtcctg aggagaaaag
     1801 ctggacatat actgggcttc acacttatct tatggcttgg cagaatcttt gtagtgtgtg
     1861 ggatctctga aggccctatt taagtttttc ttcgttactt tgctgcttca tgtgtacttt
     1921 cctaccccaa gaggaagttt tctgaaataa gatttaaaaa caaaacaaaa aaaacactta
     1981 atatttcaga ctgttacagg aaacaccctt tagtctgtca gttgaattca gagcactgaa
     2041 aggtgttaaa ttggggtatg tggtttgatt gataaaaagt tacctctcag tattttgtgt
     2101 cactgagaag ctttacaatg gatgcttttg aaacaagtat cagcaaaagg atttgttttc
     2161 actctgggag gagagggtgg agaaagcact tgctttcatc ctctggcatc ggaaactccc
     2221 ctatgcactt gaagatggtt taaaagatta aagaaacgat taagagaaaa ggttggaagc
     2281 tttatactaa atgggctcct tcatggtgac gccccgtcaa ccacaatcaa gaactgaggc
     2341 ctgaggctgg ttgtacaatg cccacgcctg cctggctgct ttcacctggg agtgctttcg
     2401 atgtgggcac ctgggcttcc tagggctgct tctgagtggt tctttcacgt gttgtgtcca
     2461 tagctttagt cttcctaaat aagatccacc cacacctaag tcacagaatt tctaagttcc
     2521 ccaactactc tcacaccctt ttaaagataa agtatgttgt aaccaggatg tcttaaatga
     2581 ttctttgtgt accttttctg tcatattcag aaaccgtttt gtgcctgctg ggagtaattc
     2641 ctttagcaat taagtatttg gtagctgaat aaggggtcag aacttctgaa accagagatc
     2701 tgtaatcatc tctattggcc tggggtgcct gtgctataaa tgagtttctt cacatgaaaa
     2761 acacagccag cccaagatga cttatctggg tttaggattc aatagtattc actaactgct
     2821 tattacatga gcaatttcat caaatctcca aactcttaaa ggatgctttc ggaaaacacg
     2881 ctgtatacct agatgatgac taaatgcaaa atccttgggc tttggttttt ttctagtaag
     2941 gattttaaat aactgccgac ttcaaaagtg ttcttaaaac gaaagataat gttaagaaaa
     3001 atttgaaagc tttggaaaac caaatttgta atatcattgt attttttatt aaaagttttg
     3061 taataaattt ctaaattatc
//
