LOCUS       NM_024334               3230 bp    mRNA    linear   PRI 05-OCT-2024
DEFINITION  Homo sapiens transmembrane protein 43 (TMEM43), transcript variant
            1, mRNA.
ACCESSION   NM_024334
VERSION     NM_024334.3
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 3230)
  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 3230)
  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 3230)
  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 3230)
  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 3230)
  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 3230)
  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 3230)
  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 3230)
  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 3230)
  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 3230)
  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 BC003125.1 and AY358625.1.
            
            On Nov 30, 2019 this sequence version replaced NM_024334.2.
            
            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 :: BC003125.1, AL136916.1 [ECO:0000332]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000306077.5/ ENSP00000303992.5
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-3229              BC003125.1         8-3236
            3230-3230           AY358625.1         1996-1996
FEATURES             Location/Qualifiers
     source          1..3230
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3p25.1"
     gene            1..3230
                     /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..1345
                     /gene="TMEM43"
                     /gene_synonym="ARVC5; ARVD5; AUNA2; AUNA3; EDMD7; LUMA"
                     /EC_number="2.7.1.21"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /codon_start=1
                     /product="transmembrane protein 43 isoform 1"
                     /protein_id="NP_077310.1"
                     /db_xref="CCDS:CCDS2618.1"
                     /db_xref="GeneID:79188"
                     /db_xref="HGNC:HGNC:28472"
                     /db_xref="MIM:612048"
                     /translation="MAANYSSTSTRREHVKVKTSSQPGFLERLSETSGGMFVGLMAFL
                     LSFYLIFTNEGRALKTATSLAEGLSLVVSPDSIHSVAPENEGRLVHIIGALRTSKLLS
                     DPNYGVHLPAVKLRRHVEMYQWVETEESREYTEDGQVKKETRYSYNTEWRSEIINSKN
                     FDREIGHKNPSAMAVESFMATAPFVQIGRFFLSSGLIDKVDNFKSLSLSKLEDPHVDI
                     IRRGDFFYHSENPKYPEVGDLRVSFSYAGLSGDDPDLGPAHVVTVIARQRGDQLVPFS
                     TKSGDTLLLLHHGDFSAEEVFHRELRSNSMKTWGLRAAGWMAMFMGLNLMTRILYTLV
                     DWFPVFRDLVNIGLKAFAFCVATSLTLLTVAAGWLFYRPLWALLIAGLALVPILVART
                     RVPAKKLE"
     exon            155..304
                     /gene="TMEM43"
                     /gene_synonym="ARVC5; ARVD5; AUNA2; AUNA3; EDMD7; LUMA"
                     /inference="alignment:Splign:2.1.0"
     exon            305..439
                     /gene="TMEM43"
                     /gene_synonym="ARVC5; ARVD5; AUNA2; AUNA3; EDMD7; LUMA"
                     /inference="alignment:Splign:2.1.0"
     exon            440..534
                     /gene="TMEM43"
                     /gene_synonym="ARVC5; ARVD5; AUNA2; AUNA3; EDMD7; LUMA"
                     /inference="alignment:Splign:2.1.0"
     exon            535..584
                     /gene="TMEM43"
                     /gene_synonym="ARVC5; ARVD5; AUNA2; AUNA3; EDMD7; LUMA"
                     /inference="alignment:Splign:2.1.0"
     exon            585..654
                     /gene="TMEM43"
                     /gene_synonym="ARVC5; ARVD5; AUNA2; AUNA3; EDMD7; LUMA"
                     /inference="alignment:Splign:2.1.0"
     exon            655..725
                     /gene="TMEM43"
                     /gene_synonym="ARVC5; ARVD5; AUNA2; AUNA3; EDMD7; LUMA"
                     /inference="alignment:Splign:2.1.0"
     exon            726..847
                     /gene="TMEM43"
                     /gene_synonym="ARVC5; ARVD5; AUNA2; AUNA3; EDMD7; LUMA"
                     /inference="alignment:Splign:2.1.0"
     exon            848..922
                     /gene="TMEM43"
                     /gene_synonym="ARVC5; ARVD5; AUNA2; AUNA3; EDMD7; LUMA"
                     /inference="alignment:Splign:2.1.0"
     exon            923..1024
                     /gene="TMEM43"
                     /gene_synonym="ARVC5; ARVD5; AUNA2; AUNA3; EDMD7; LUMA"
                     /inference="alignment:Splign:2.1.0"
     exon            1025..1142
                     /gene="TMEM43"
                     /gene_synonym="ARVC5; ARVD5; AUNA2; AUNA3; EDMD7; LUMA"
                     /inference="alignment:Splign:2.1.0"
     exon            1143..3230
                     /gene="TMEM43"
                     /gene_synonym="ARVC5; ARVD5; AUNA2; AUNA3; EDMD7; LUMA"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2696..2701
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TMEM43"
                     /gene_synonym="ARVC5; ARVD5; AUNA2; AUNA3; EDMD7; LUMA"
                     /note="hexamer: GATAAA"
     polyA_site      2718
                     /gene="TMEM43"
                     /gene_synonym="ARVC5; ARVD5; AUNA2; AUNA3; EDMD7; LUMA"
     regulatory      3212..3217
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TMEM43"
                     /gene_synonym="ARVC5; ARVD5; AUNA2; AUNA3; EDMD7; LUMA"
                     /note="hexamer: AATAAA"
     polyA_site      3230
                     /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 gaattattcc agtaccagta cccggagaga
      181 acatgtcaaa gttaaaacca gctcccagcc aggcttcctg gaacggctga gcgagacctc
      241 gggtgggatg tttgtggggc tcatggcctt cctgctctcc ttctacctaa ttttcaccaa
      301 tgagggccgc gcattgaaga cggcaacctc attggctgag gggctctcgc ttgtggtgtc
      361 tcccgacagc atccacagtg tggctccgga gaatgaagga aggctggtgc acatcattgg
      421 cgccttacgg acatccaagc ttttgtctga tccaaactat ggggtccatc ttccggctgt
      481 gaaactgcgg aggcacgtgg agatgtacca atgggtagaa actgaggagt ccagggagta
      541 caccgaggat gggcaggtga agaaggagac gaggtattcc tacaacactg aatggaggtc
      601 agaaatcatc aacagcaaaa acttcgaccg agagattggc cacaaaaacc ccagtgccat
      661 ggcagtggag tcattcatgg caacagcccc ctttgtccaa attggcaggt ttttcctctc
      721 gtcaggcctc atcgacaaag tcgacaactt caagtccctg agcctatcca agctggagga
      781 ccctcatgtg gacatcattc gccgtggaga ctttttctac cacagcgaaa atcccaagta
      841 tccagaggtg ggagacttgc gtgtctcctt ttcctatgct ggactgagcg gcgatgaccc
      901 tgacctgggc ccagctcacg tggtcactgt gattgcccgg cagcggggtg accagctagt
      961 cccattctcc accaagtctg gggatacctt actgctcctg caccacgggg acttctcagc
     1021 agaggaggtg tttcatagag aactaaggag caactccatg aagacctggg gcctgcgggc
     1081 agctggctgg atggccatgt tcatgggcct caaccttatg acacggatcc tctacacctt
     1141 ggtggactgg tttcctgttt tccgagacct ggtcaacatt ggcctgaaag cctttgcctt
     1201 ctgtgtggcc acctcgctga ccctgctgac cgtggcggct ggctggctct tctaccgacc
     1261 cctgtgggcc ctcctcattg ccggcctggc ccttgtgccc atccttgttg ctcggacacg
     1321 ggtgccagcc aaaaagttgg agtgaaaaga ccctggcacc cgcccgacac ctgcgtgagc
     1381 cctaggatcc aggtcctctc tcacctctga cccagctcca tgccagagca ggagccccgg
     1441 tcaattttgg actctgcact ccctctcctc ttcaggggcc agacttggca gcatgtgcac
     1501 caggttggtg ttcaccagct catgtcttcc ccacatctct tcttgccagt aagcagcttt
     1561 ggtgggcagc agcagctcat gaatggcaag ctgacagctt ctcctgctgt ttccttcctc
     1621 tcttggactg agtgggtacg gccagccact cagcccattg gcagctgaca acgcagacac
     1681 gctctacgga ggcctgctga taaagggctc agccttgccg tgtgctgctt ctcatcactg
     1741 cacacaagtg ccatgctttg ccaccaccac caagcacatc tgtgatcctg aagggcggcc
     1801 gttagtcatt actgctgagt cctgggtcac cagcagacac actgggcatg gacccctcaa
     1861 agcaggcaca cccaaaacac aagtctgtgg ctagaacctg atgtggtgtt taaaagagaa
     1921 gaaacactga agatgtcctg aggagaaaag ctggacatat actgggcttc acacttatct
     1981 tatggcttgg cagaatcttt gtagtgtgtg ggatctctga aggccctatt taagtttttc
     2041 ttcgttactt tgctgcttca tgtgtacttt cctaccccaa gaggaagttt tctgaaataa
     2101 gatttaaaaa caaaacaaaa aaaacactta atatttcaga ctgttacagg aaacaccctt
     2161 tagtctgtca gttgaattca gagcactgaa aggtgttaaa ttggggtatg tggtttgatt
     2221 gataaaaagt tacctctcag tattttgtgt cactgagaag ctttacaatg gatgcttttg
     2281 aaacaagtat cagcaaaagg atttgttttc actctgggag gagagggtgg agaaagcact
     2341 tgctttcatc ctctggcatc ggaaactccc ctatgcactt gaagatggtt taaaagatta
     2401 aagaaacgat taagagaaaa ggttggaagc tttatactaa atgggctcct tcatggtgac
     2461 gccccgtcaa ccacaatcaa gaactgaggc ctgaggctgg ttgtacaatg cccacgcctg
     2521 cctggctgct ttcacctggg agtgctttcg atgtgggcac ctgggcttcc tagggctgct
     2581 tctgagtggt tctttcacgt gttgtgtcca tagctttagt cttcctaaat aagatccacc
     2641 cacacctaag tcacagaatt tctaagttcc ccaactactc tcacaccctt ttaaagataa
     2701 agtatgttgt aaccaggatg tcttaaatga ttctttgtgt accttttctg tcatattcag
     2761 aaaccgtttt gtgcctgctg ggagtaattc ctttagcaat taagtatttg gtagctgaat
     2821 aaggggtcag aacttctgaa accagagatc tgtaatcatc tctattggcc tggggtgcct
     2881 gtgctataaa tgagtttctt cacatgaaaa acacagccag cccaagatga cttatctggg
     2941 tttaggattc aatagtattc actaactgct tattacatga gcaatttcat caaatctcca
     3001 aactcttaaa ggatgctttc ggaaaacacg ctgtatacct agatgatgac taaatgcaaa
     3061 atccttgggc tttggttttt ttctagtaag gattttaaat aactgccgac ttcaaaagtg
     3121 ttcttaaaac gaaagataat gttaagaaaa atttgaaagc tttggaaaac caaatttgta
     3181 atatcattgt attttttatt aaaagttttg taataaattt ctaaattatc
//
