LOCUS       NM_014319               4780 bp    mRNA    linear   PRI 20-SEP-2024
DEFINITION  Homo sapiens LEM domain containing 3 (LEMD3), transcript variant 1,
            mRNA.
ACCESSION   NM_014319
VERSION     NM_014319.5
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 4780)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Navarrete-Perea,J., Cannon,J.R.,
            Baltier,K., Gebreab,F., Gygi,M.P., Thornock,A., Zarraga,G., Tam,S.,
            Szpyt,J., Gassaway,B.M., Panov,A., Parzen,H., Fu,S., Golbazi,A.,
            Maenpaa,E., Stricker,K., Guha Thakurta,S., Zhang,T., Rad,R.,
            Pan,J., Nusinow,D.P., Paulo,J.A., Schweppe,D.K., Vaites,L.P.,
            Harper,J.W. and Gygi,S.P.
  TITLE     Dual proteome-scale networks reveal cell-specific remodeling of the
            human interactome
  JOURNAL   Cell 184 (11), 3022-3040 (2021)
   PUBMED   33961781
REFERENCE   2  (bases 1 to 4780)
  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   3  (bases 1 to 4780)
  AUTHORS   Gnoli,M., Staals,E.L., Campanacci,L., Bedeschi,M.F., Faletra,F.,
            Gallone,S., Gaudio,A., Mattina,T., Gurrieri,F., Percesepe,A.,
            Neri,I., Virdi,A., Tremosini,M., Milanesi,A., Brizola,E.,
            Pedrini,E. and Sangiorgi,L.
  TITLE     Melorheostosis and Osteopoikilosis Clinical and Molecular
            Description of an Italian Case Series
  JOURNAL   Calcif Tissue Int 105 (2), 215-221 (2019)
   PUBMED   31129707
  REMARK    GeneRIF: Melorheostosis and Osteopoikilosis Clinical and Molecular
            Description of an Italian Case Series.
REFERENCE   4  (bases 1 to 4780)
  AUTHORS   Miyazono,K.I., Ohno,Y., Wada,H., Ito,T., Fukatsu,Y., Kurisaki,A.,
            Asashima,M. and Tanokura,M.
  TITLE     Structural basis for receptor-regulated SMAD recognition by MAN1
  JOURNAL   Nucleic Acids Res 46 (22), 12139-12153 (2018)
   PUBMED   30321401
  REMARK    GeneRIF: analysis of the structural basis for R-SMAD recognition by
            MAN1 using SMAD2-MAN1 and SMAD1-MAN1 complex structures
REFERENCE   5  (bases 1 to 4780)
  AUTHORS   Pan,D., Estevez-Salmeron,L.D., Stroschein,S.L., Zhu,X., He,J.,
            Zhou,S. and Luo,K.
  TITLE     The integral inner nuclear membrane protein MAN1 physically
            interacts with the R-Smad proteins to repress signaling by the
            transforming growth factor-{beta} superfamily of cytokines
  JOURNAL   J Biol Chem 280 (16), 15992-16001 (2005)
   PUBMED   15647271
  REMARK    GeneRIF: Overexpression results in inhibition of R-Smad
            phosphorylation, heterodimerization with Smad4, and nuclear
            translocation
REFERENCE   6  (bases 1 to 4780)
  AUTHORS   Mansharamani,M. and Wilson,K.L.
  TITLE     Direct binding of nuclear membrane protein MAN1 to emerin in vitro
            and two modes of binding to barrier-to-autointegration factor
  JOURNAL   J Biol Chem 280 (14), 13863-13870 (2005)
   PUBMED   15681850
  REMARK    GeneRIF: Data describe the direct binding of the nuclear membrane
            protein MAN1 to emerin in vitro.
REFERENCE   7  (bases 1 to 4780)
  AUTHORS   Lin,F., Morrison,J.M., Wu,W. and Worman,H.J.
  TITLE     MAN1, an integral protein of the inner nuclear membrane, binds
            Smad2 and Smad3 and antagonizes transforming growth factor-beta
            signaling
  JOURNAL   Hum Mol Genet 14 (3), 437-445 (2005)
   PUBMED   15601644
  REMARK    GeneRIF: The C-terminal domain of human MAN1 binds to Smad2 and
            Smad3 and antagonizes signaling by transforming growth factor-beta
            GeneRIF: Binds to Smad2 and Smad3 and antagonizes signaling by
            transforming growth factor-beta
REFERENCE   8  (bases 1 to 4780)
  AUTHORS   Hellemans,J., Preobrazhenska,O., Willaert,A., Debeer,P.,
            Verdonk,P.C., Costa,T., Janssens,K., Menten,B., Van Roy,N.,
            Vermeulen,S.J., Savarirayan,R., Van Hul,W., Vanhoenacker,F.,
            Huylebroeck,D., De Paepe,A., Naeyaert,J.M., Vandesompele,J.,
            Speleman,F., Verschueren,K., Coucke,P.J. and Mortier,G.R.
  TITLE     Loss-of-function mutations in LEMD3 result in osteopoikilosis,
            Buschke-Ollendorff syndrome and melorheostosis
  JOURNAL   Nat Genet 36 (11), 1213-1218 (2004)
   PUBMED   15489854
REFERENCE   9  (bases 1 to 4780)
  AUTHORS   Wu,W., Lin,F. and Worman,H.J.
  TITLE     Intracellular trafficking of MAN1, an integral protein of the
            nuclear envelope inner membrane
  JOURNAL   J Cell Sci 115 (Pt 7), 1361-1371 (2002)
   PUBMED   11896184
REFERENCE   10 (bases 1 to 4780)
  AUTHORS   Lin,F., Blake,D.L., Callebaut,I., Skerjanc,I.S., Holmer,L.,
            McBurney,M.W., Paulin-Levasseur,M. and Worman,H.J.
  TITLE     MAN1, an inner nuclear membrane protein that shares the LEM domain
            with lamina-associated polypeptide 2 and emerin
  JOURNAL   J Biol Chem 275 (7), 4840-4847 (2000)
   PUBMED   10671519
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK312473.1, AF112299.2 and
            BX390128.2.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_014319.4.
            
            Summary: This locus encodes a LEM domain-containing protein. The
            encoded protein functions to antagonize transforming growth
            factor-beta signaling at the inner nuclear membrane. Two transcript
            variants encoding different isoforms have been found for this gene.
            Mutations in this gene have been associated with osteopoikilosis,
            Buschke-Ollendorff syndrome and melorheostosis.[provided by RefSeq,
            Nov 2009].
            
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer 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 :: SRR1803616.145863.1,
                                           SRR1660807.46629.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000308330.3/ ENSP00000308369.2
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-8                 AK312473.1         13-20
            9-4711              AF112299.2         1-4703
            4712-4780           BX390128.2         545-613
FEATURES             Location/Qualifiers
     source          1..4780
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q14.3"
     gene            1..4780
                     /gene="LEMD3"
                     /gene_synonym="MAN1"
                     /note="LEM domain containing 3"
                     /db_xref="GeneID:23592"
                     /db_xref="HGNC:HGNC:28887"
                     /db_xref="MIM:607844"
     exon            1..1536
                     /gene="LEMD3"
                     /gene_synonym="MAN1"
                     /inference="alignment:Splign:2.1.0"
     CDS             15..2750
                     /gene="LEMD3"
                     /gene_synonym="MAN1"
                     /note="isoform 1 is encoded by transcript variant 1;
                     integral inner nuclear membrane protein; inner nuclear
                     membrane protein Man1; LEM domain-containing protein 3;
                     LEMD3/MKX fusion; MAN antigen 1"
                     /codon_start=1
                     /product="inner nuclear membrane protein Man1 isoform 1"
                     /protein_id="NP_055134.2"
                     /db_xref="CCDS:CCDS8972.1"
                     /db_xref="GeneID:23592"
                     /db_xref="HGNC:HGNC:28887"
                     /db_xref="MIM:607844"
                     /translation="MAAAAASAPQQLSDEELFSQLRRYGLSPGPVTESTRPVYLKKLK
                     KLREEEQQQHRSGGRGNKTRNSNNNNTAAATVAAAGPAAAAAAGMGVRPVSGDLSYLR
                     TPGGLCRISASGPESLLGGPGGASAAPAAGSKVLLGFSSDESDVEASPRDQAGGGGRK
                     DRASLQYRGLKAPPAPLAASEVTNSNSAERRKPHSWWGARRPAGPELQTPPGKDGAVE
                     DEEGEGEDGEERDPETEEPLWASRTVNGSRLVPYSCRENYSDSEEEDDDDVASSRQVL
                     KDDSLSRHRPRRTHSKPLPPLTAKSAGGRLETSVQGGGGLAMNDRAAAAGSLDRSRNL
                     EEAAAAEQGGGCDQVDSSPVPRYRVNAKKLTPLLPPPLTDMDSTLDSSTGSLLKTNNH
                     IGGGAFSVDSPRIYSNSLPPSAAVAASSSLRINHANHTGSNHTYLKNTYNKPKLSEPE
                     EELLQQFKREEVSPTGSFSAHYLSMFLLTAACLFFLILGLTYLGMRGTGVSEDGELSI
                     ENPFGETFGKIQESEKTLMMNTLYKLHDRLAQLAGDHECGSSSQRTLSVQEAAAYLKD
                     LGPEYEGIFNTSLQWILENGKDVGIRCVGFGPEEELTNITDVQFLQSTRPLMSFWCRF
                     RRAFVTVTHRLLLLCLGVVMVCVVLRYMKYRWTKEEEETRQMYDMVVKIIDVLRSHNE
                     ACQENKDLQPYMPIPHVRDSLIQPHDRKKMKKVWDRAVDFLAANESRVRTETRRIGGA
                     DFLVWRWIQPSASCDKILVIPSKVWQGQAFHLDRRNSPPNSLTPCLKIRNMFDPVMEI
                     GDQWHLAIQEAILEKCSDNDGIVHIAVDKNSREGCVYVKCLSPEYAGKAFKALHGSWF
                     DGKLVTVKYLRLDRYHHRFPQALTSNTPLKPSNKHMNSMSHLRLRTGLTNSQGSS"
     exon            1537..1574
                     /gene="LEMD3"
                     /gene_synonym="MAN1"
                     /inference="alignment:Splign:2.1.0"
     exon            1575..1641
                     /gene="LEMD3"
                     /gene_synonym="MAN1"
                     /inference="alignment:Splign:2.1.0"
     exon            1642..1709
                     /gene="LEMD3"
                     /gene_synonym="MAN1"
                     /inference="alignment:Splign:2.1.0"
     exon            1710..1789
                     /gene="LEMD3"
                     /gene_synonym="MAN1"
                     /inference="alignment:Splign:2.1.0"
     exon            1790..1935
                     /gene="LEMD3"
                     /gene_synonym="MAN1"
                     /inference="alignment:Splign:2.1.0"
     exon            1936..2037
                     /gene="LEMD3"
                     /gene_synonym="MAN1"
                     /inference="alignment:Splign:2.1.0"
     exon            2038..2140
                     /gene="LEMD3"
                     /gene_synonym="MAN1"
                     /inference="alignment:Splign:2.1.0"
     exon            2141..2319
                     /gene="LEMD3"
                     /gene_synonym="MAN1"
                     /inference="alignment:Splign:2.1.0"
     exon            2320..2401
                     /gene="LEMD3"
                     /gene_synonym="MAN1"
                     /inference="alignment:Splign:2.1.0"
     exon            2402..2507
                     /gene="LEMD3"
                     /gene_synonym="MAN1"
                     /inference="alignment:Splign:2.1.0"
     exon            2508..2586
                     /gene="LEMD3"
                     /gene_synonym="MAN1"
                     /inference="alignment:Splign:2.1.0"
     exon            2587..4780
                     /gene="LEMD3"
                     /gene_synonym="MAN1"
                     /inference="alignment:Splign:2.1.0"
     polyA_site      4718
                     /gene="LEMD3"
                     /gene_synonym="MAN1"
                     /note="major polyA site"
     regulatory      4732..4737
                     /regulatory_class="polyA_signal_sequence"
                     /gene="LEMD3"
                     /gene_synonym="MAN1"
                     /note="hexamer: ATTAAA"
     polyA_site      4757
                     /gene="LEMD3"
                     /gene_synonym="MAN1"
                     /note="major polyA site"
     polyA_site      4780
                     /gene="LEMD3"
                     /gene_synonym="MAN1"
ORIGIN      
        1 accctggaga gaaaatggcg gcggcagcag cttcggcgcc tcagcagctc tcggatgagg
       61 agcttttctc tcagctccgc cgttacggcc tgtctcccgg accagtgacg gagagcaccc
      121 gcccggtcta cctcaagaag ctgaagaagc ttcgagagga agagcagcaa cagcaccggt
      181 cagggggccg cggcaacaag acgcggaaca gtaataacaa taacacggca gccgccacgg
      241 tcgcagccgc gggaccagcg gcggcggcgg ccgcggggat gggggtccgg ccggtctcgg
      301 gcgacctctc ctacttacgg actcctgggg gcctgtgccg aatctcggcc tctggcccag
      361 agagcctcct gggagggccc gggggcgcct ccgccgcccc cgcggctggc agcaaagtgc
      421 tgctgggctt cagctcggac gagtcggacg tggaggccag tccccgggac caggccggcg
      481 gcggcgggag gaaagaccgg gcttcgctcc agtaccgcgg gctcaaagcg ccgccggcgc
      541 ccctggccgc cagcgaggtg actaacagca actctgcaga gcgaaggaag ccccactcgt
      601 ggtggggggc caggaggccg gcgggccccg agctgcagac cccgccgggg aaagatggag
      661 cagtggagga cgaggaaggg gagggagagg acggtgagga gagggacccg gagaccgagg
      721 agccgctctg ggcgagccgg accgtgaatg gcagccggct tgtcccctac agctgccggg
      781 aaaactattc ggactcagag gaagaggacg acgacgacgt ggcctccagc agacaggtat
      841 taaaggacga ctccctttcc cggcatcggc ccagacgaac ccatagtaag cctctccccc
      901 cgctgactgc taaatcggcc ggcggcaggc tggagacttc agttcaggga gggggaggac
      961 tcgcgatgaa tgacagggcg gcggctgccg ggagtctaga caggagccga aacctcgaag
     1021 aggcggcggc cgcggagcag ggaggagggt gtgatcaagt ggactccagc cccgttccta
     1081 gataccgtgt taacgctaag aaactgaccc ctctcctgcc cccgccactt actgacatgg
     1141 actcaacctt ggattcgtca acaggctccc ttctgaaaac caataatcat attggcggtg
     1201 gggccttcag tgtggactcc cccaggattt attctaacag tctccctccc agtgcggcgg
     1261 tggccgcctc tagttcactc aggatcaatc acgccaatca tacgggctcc aatcatacct
     1321 acctgaaaaa cacatacaac aaaccgaagc tttccgaacc cgaagaggaa cttctccagc
     1381 aatttaaacg ggaggaggtg tccccaacag ggagtttcag tgcccactac ttgtcgatgt
     1441 ttctcttaac tgctgcctgc ttatttttcc taatactggg actgacttac ctaggaatga
     1501 gagggacagg agtatctgag gatggagaac tcagcataga aaaccccttt ggtgaaacat
     1561 ttggaaaaat acaagaaagt gaaaaaactc ttatgatgaa cacattatat aagcttcatg
     1621 atcgattggc acagcttgca ggagatcatg aatgtggcag ttctagtcaa agaacgcttt
     1681 ctgttcaaga ggcagctgcg tatttaaaag atttaggtcc tgaatatgaa ggtatattta
     1741 acacttcatt gcagtggatc ttagaaaatg gaaaagatgt tggaataagg tgtgttggtt
     1801 ttggccctga ggaagaattg acaaatataa ctgatgtgca gtttttacag tccacaagac
     1861 cactgatgtc tttttggtgt cgttttcgac gtgcttttgt tactgtaact cacagattat
     1921 tgttgttatg cttaggtgta gtgatggttt gtgtcgttct gcgttacatg aaatatcgat
     1981 ggacaaaaga agaggaggaa acaaggcaga tgtatgatat ggtggtaaag attatagatg
     2041 ttttacgaag tcataatgaa gcctgccagg aaaacaaaga tttacaacct tacatgccta
     2101 ttccacatgt acgcgattcc ttaatacagc ctcatgacag gaaaaaaatg aagaaagtct
     2161 gggatagagc tgttgacttc cttgctgcta atgagtctag agttcgcacg gaaacacgaa
     2221 gaataggtgg tgcagatttt ctggtttggc ggtggatcca gccttctgca tcctgtgaca
     2281 aaatattagt tataccttct aaagtatggc aaggtcaagc atttcattta gatagaagaa
     2341 attcaccacc aaatagtttg acaccgtgtc taaagattcg gaatatgttt gatcccgtta
     2401 tggaaatagg ggatcagtgg catttggcaa ttcaagaagc aattttagaa aaatgcagtg
     2461 ataatgatgg cattgttcac attgcagtag acaaaaattc acgtgagggt tgtgtatatg
     2521 ttaaatgtct gtctccagaa tatgctggaa aggcttttaa agcattgcat ggctcttggt
     2581 ttgatgggaa attggttaca gtaaaatatt tacgactaga tagataccac catcgctttc
     2641 cccaggctct cacttccaac actccattga agccatcaaa taaacatatg aactccatgt
     2701 ctcatcttcg tcttcggact ggcctaacca attctcaagg aagttcctga aaagattttc
     2761 ttccatttct aagactgtta tttacaatag gaaaattcct gtttggcttt ttgtcttcct
     2821 ttttaaatgc tttttgtatg taatattttt attgatgaat acatctctga acgttccaga
     2881 agtcttaagg ttccaaaggg atttagcagt gaggcagcaa tgctgagtag gtaggataat
     2941 tatttcattc agtttttgga gctcagttaa gccaatacat ttaaagtttt gcatgaggaa
     3001 cactgacttt attaagcatt ttcagatgtg gtggttgtat ttttgcccca agaagtgttt
     3061 ggataaccac acaaaagcat gatgaaaagg cttcttgtag tcccataatt tcttgtgaac
     3121 taatgttgtg aatttttgta tacagtcacc tgcatagttc ctacaggcta atgtggtaaa
     3181 actgttgatt tcccaattta accttaggtt tctgttgctt ataagcgatt catttgctac
     3241 ggctggaata tgggaaaatt aatttgggct tagtggttac aaatatgtgt aagtggatgt
     3301 atatgtactt aaactggctt tgtatatatg tataaatgct ggtggtggtg aaagtagtct
     3361 tgttttatga ggatgtctgc attaaagcag taaaataagc tttccatttt attcataatc
     3421 taatgtgtgt gtatatatgt atgtgtgtat gtgtgtgtat atatagatgt atatatatac
     3481 acacacagag atatatacat atggctgtac ttttgcatag atcaaacagc caaacacctg
     3541 gaagtattag atacaagttt aaaatatctt ttataggttt tatataaaaa tgtctgagta
     3601 tgattttgtg tgaaagttct gataccagtt gtaatagagt caaatttatg tgagcaataa
     3661 agaagaaatt ggcagatatt ggaaaaatat tttgtgaaaa gctgtattta ttataaatac
     3721 tagggccatg acatagtacc attggggtta agtcattttc ccaatctatt tataatttaa
     3781 tgatatgtta gtgcctctgt tatatgtcaa gtttaaagca gggcacattg ttgcagcaaa
     3841 atgtgtattt gacaaattat acttgcaatt ttgggtcatg aaagtttgca atatagtaaa
     3901 tgcacgattg actgttgctt tgtgcctcag tatttaattt gtttcagtaa acttacttta
     3961 ttactgttta tgatttcaga taaaaatagt tgctgagtaa attttacttg taatctacaa
     4021 ttggcttttt aaaaataacc tgttgatata taattgtcag tccaaatgaa tatgtgaaac
     4081 agctggaatt gtacaaattt tggttgtatt taaagctcag tttccttttt gttttattgt
     4141 atgcgttggg tttgcagcat gaacttgcac agataatgca cgttttctgg ttaagtaaac
     4201 atgatgcaca ctattctgta acagaaagcc ctattgtgcc ttacctgtgt gcttttgtgg
     4261 gcaccttgtt tatgaagaat aaaaaatgat ttgttatctg aagagaataa attttaaatt
     4321 ctcagtttat gtctcagatg ctaacgtgtg aaaatataaa tatatataat atataaagta
     4381 accagtcttc ctgtatttta tgtgcatcat agtgatttat ctgagcttag tgacccccat
     4441 cttgtaacct gttgcaagag tgaatgtaaa aaatagttgt ggcattttaa aaggtcgcct
     4501 ttgatgcaga tgcatctttt tcttgcttct aaaacatatt tcatgtaaac attgtacatt
     4561 tattattgta atatatacta ttatgcagct tattttacct gaaactgtta agccgaccaa
     4621 gatccctccc tgcaagacag atgggaatgt gtataataac taggtatttg agaagttctg
     4681 aagtttgatg taatctgtta cttgtcctgt taaaaaaagg aaaaaattct aattaaaaat
     4741 ttattagttt ttttttatgt gtcttggctt tttaaaaaca
//
