LOCUS       NM_001407274            3233 bp    mRNA    linear   PRI 05-OCT-2024
DEFINITION  Homo sapiens transmembrane protein 43 (TMEM43), transcript variant
            2, mRNA.
ACCESSION   NM_001407274
VERSION     NM_001407274.1
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 3233)
  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 3233)
  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 3233)
  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 3233)
  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 3233)
  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 3233)
  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 3233)
  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 3233)
  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 3233)
  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 3233)
  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 :: SRR14038191.1212701.1,
                                           SRR14372080.1299397.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1970526, SAMEA2145240
                                           [ECO:0000348]
            ##Evidence-Data-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-154               AC090004.2         19615-19768         c
            155-304             AC090004.2         15259-15408         c
            305-439             AC090004.2         13864-13998         c
            440-534             AC090004.2         13146-13240         c
            535-584             AC090004.2         12225-12274         c
            585-657             AC090004.2         11885-11957         c
            658-728             AC090004.2         11011-11081         c
            729-850             AC090004.2         9929-10050          c
            851-925             AC090004.2         9588-9662           c
            926-1027            AC090004.2         8912-9013           c
            1028-1145           AC090004.2         5523-5640           c
            1146-3233           AC090004.2         1140-3227           c
FEATURES             Location/Qualifiers
     source          1..3233
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3p25.1"
     gene            1..3233
                     /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..1348
                     /gene="TMEM43"
                     /gene_synonym="ARVC5; ARVD5; AUNA2; AUNA3; EDMD7; LUMA"
                     /EC_number="2.7.1.21"
                     /note="isoform 2 is encoded by transcript variant 2"
                     /codon_start=1
                     /product="transmembrane protein 43 isoform 2"
                     /protein_id="NP_001394203.1"
                     /db_xref="GeneID:79188"
                     /db_xref="HGNC:HGNC:28472"
                     /db_xref="MIM:612048"
                     /translation="MAANYSSTSTRREHVKVKTSSQPGFLERLSETSGGMFVGLMAFL
                     LSFYLIFTNEGRALKTATSLAEGLSLVVSPDSIHSVAPENEGRLVHIIGALRTSKLLS
                     DPNYGVHLPAVKLRRHVEMYQWVETEESREYTEDGQVKKETRYSYTDTEWRSEIINSK
                     NFDREIGHKNPSAMAVESFMATAPFVQIGRFFLSSGLIDKVDNFKSLSLSKLEDPHVD
                     IIRRGDFFYHSENPKYPEVGDLRVSFSYAGLSGDDPDLGPAHVVTVIARQRGDQLVPF
                     STKSGDTLLLLHHGDFSAEEVFHRELRSNSMKTWGLRAAGWMAMFMGLNLMTRILYTL
                     VDWFPVFRDLVNIGLKAFAFCVATSLTLLTVAAGWLFYRPLWALLIAGLALVPILVAR
                     TRVPAKKLE"
     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..657
                     /gene="TMEM43"
                     /gene_synonym="ARVC5; ARVD5; AUNA2; AUNA3; EDMD7; LUMA"
                     /inference="alignment:Splign:2.1.0"
     exon            658..728
                     /gene="TMEM43"
                     /gene_synonym="ARVC5; ARVD5; AUNA2; AUNA3; EDMD7; LUMA"
                     /inference="alignment:Splign:2.1.0"
     exon            729..850
                     /gene="TMEM43"
                     /gene_synonym="ARVC5; ARVD5; AUNA2; AUNA3; EDMD7; LUMA"
                     /inference="alignment:Splign:2.1.0"
     exon            851..925
                     /gene="TMEM43"
                     /gene_synonym="ARVC5; ARVD5; AUNA2; AUNA3; EDMD7; LUMA"
                     /inference="alignment:Splign:2.1.0"
     exon            926..1027
                     /gene="TMEM43"
                     /gene_synonym="ARVC5; ARVD5; AUNA2; AUNA3; EDMD7; LUMA"
                     /inference="alignment:Splign:2.1.0"
     exon            1028..1145
                     /gene="TMEM43"
                     /gene_synonym="ARVC5; ARVD5; AUNA2; AUNA3; EDMD7; LUMA"
                     /inference="alignment:Splign:2.1.0"
     exon            1146..3233
                     /gene="TMEM43"
                     /gene_synonym="ARVC5; ARVD5; AUNA2; AUNA3; EDMD7; LUMA"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2699..2704
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TMEM43"
                     /gene_synonym="ARVC5; ARVD5; AUNA2; AUNA3; EDMD7; LUMA"
                     /note="hexamer: GATAAA"
     polyA_site      2721
                     /gene="TMEM43"
                     /gene_synonym="ARVC5; ARVD5; AUNA2; AUNA3; EDMD7; LUMA"
     regulatory      3215..3220
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TMEM43"
                     /gene_synonym="ARVC5; ARVD5; AUNA2; AUNA3; EDMD7; LUMA"
                     /note="hexamer: AATAAA"
     polyA_site      3233
                     /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 tacacagaca ctgaatggag
      601 gtcagaaatc atcaacagca aaaacttcga ccgagagatt ggccacaaaa accccagtgc
      661 catggcagtg gagtcattca tggcaacagc cccctttgtc caaattggca ggtttttcct
      721 ctcgtcaggc ctcatcgaca aagtcgacaa cttcaagtcc ctgagcctat ccaagctgga
      781 ggaccctcat gtggacatca ttcgccgtgg agactttttc taccacagcg aaaatcccaa
      841 gtatccagag gtgggagact tgcgtgtctc cttttcctat gctggactga gcggcgatga
      901 ccctgacctg ggcccagctc acgtggtcac tgtgattgcc cggcagcggg gtgaccagct
      961 agtcccattc tccaccaagt ctggggatac cttactgctc ctgcaccacg gggacttctc
     1021 agcagaggag gtgtttcata gagaactaag gagcaactcc atgaagacct ggggcctgcg
     1081 ggcagctggc tggatggcca tgttcatggg cctcaacctt atgacacgga tcctctacac
     1141 cttggtggac tggtttcctg ttttccgaga cctggtcaac attggcctga aagcctttgc
     1201 cttctgtgtg gccacctcgc tgaccctgct gaccgtggcg gctggctggc tcttctaccg
     1261 acccctgtgg gccctcctca ttgccggcct ggcccttgtg cccatccttg ttgctcggac
     1321 acgggtgcca gccaaaaagt tggagtgaaa agaccctggc acccgcccga cacctgcgtg
     1381 agccctagga tccaggtcct ctctcacctc tgacccagct ccatgccaga gcaggagccc
     1441 cggtcaattt tggactctgc actccctctc ctcttcaggg gccagacttg gcagcatgtg
     1501 caccaggttg gtgttcacca gctcatgtct tccccacatc tcttcttgcc agtaagcagc
     1561 tttggtgggc agcagcagct catgaatggc aagctgacag cttctcctgc tgtttccttc
     1621 ctctcttgga ctgagtgggt acggccagcc actcagccca ttggcagctg acaacgcaga
     1681 cacgctctac ggaggcctgc tgataaaggg ctcagccttg ccgtgtgctg cttctcatca
     1741 ctgcacacaa gtgccatgct ttgccaccac caccaagcac atctgtgatc ctgaagggcg
     1801 gccgttagtc attactgctg agtcctgggt caccagcaga cacactgggc atggacccct
     1861 caaagcaggc acacccaaaa cacaagtctg tggctagaac ctgatgtggt gtttaaaaga
     1921 gaagaaacac tgaagatgtc ctgaggagaa aagctggaca tatactgggc ttcacactta
     1981 tcttatggct tggcagaatc tttgtagtgt gtgggatctc tgaaggccct atttaagttt
     2041 ttcttcgtta ctttgctgct tcatgtgtac tttcctaccc caagaggaag ttttctgaaa
     2101 taagatttaa aaacaaaaca aaaaaaacac ttaatatttc agactgttac aggaaacacc
     2161 ctttagtctg tcagttgaat tcagagcact gaaaggtgtt aaattggggt atgtggtttg
     2221 attgataaaa agttacctct cagtattttg tgtcactgag aagctttaca atggatgctt
     2281 ttgaaacaag tatcagcaaa aggatttgtt ttcactctgg gaggagaggg tggagaaagc
     2341 acttgctttc atcctctggc atcggaaact cccctatgca cttgaagatg gtttaaaaga
     2401 ttaaagaaac gattaagaga aaaggttgga agctttatac taaatgggct ccttcatggt
     2461 gacgccccgt caaccacaat caagaactga ggcctgaggc tggttgtaca atgcccacgc
     2521 ctgcctggct gctttcacct gggagtgctt tcgatgtggg cacctgggct tcctagggct
     2581 gcttctgagt ggttctttca cgtgttgtgt ccatagcttt agtcttccta aataagatcc
     2641 acccacacct aagtcacaga atttctaagt tccccaacta ctctcacacc cttttaaaga
     2701 taaagtatgt tgtaaccagg atgtcttaaa tgattctttg tgtacctttt ctgtcatatt
     2761 cagaaaccgt tttgtgcctg ctgggagtaa ttcctttagc aattaagtat ttggtagctg
     2821 aataaggggt cagaacttct gaaaccagag atctgtaatc atctctattg gcctggggtg
     2881 cctgtgctat aaatgagttt cttcacatga aaaacacagc cagcccaaga tgacttatct
     2941 gggtttagga ttcaatagta ttcactaact gcttattaca tgagcaattt catcaaatct
     3001 ccaaactctt aaaggatgct ttcggaaaac acgctgtata cctagatgat gactaaatgc
     3061 aaaatccttg ggctttggtt tttttctagt aaggatttta aataactgcc gacttcaaaa
     3121 gtgttcttaa aacgaaagat aatgttaaga aaaatttgaa agctttggaa aaccaaattt
     3181 gtaatatcat tgtatttttt attaaaagtt ttgtaataaa tttctaaatt atc
//
