LOCUS       NM_015154               4200 bp    mRNA    linear   PRI 04-APR-2024
DEFINITION  Homo sapiens mesoderm development LRP chaperone (MESD), transcript
            variant 1, mRNA.
ACCESSION   NM_015154 XM_370880
VERSION     NM_015154.3
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 4200)
  AUTHORS   Sturznickel,J., Jahn-Rickert,K., Zustin,J., Hennig,F.,
            Delsmann,M.M., Schoner,K., Rehder,H., Kreczy,A., Schinke,T.,
            Amling,M., Kornak,U. and Oheim,R.
  TITLE     Compound Heterozygous Frameshift Mutations in MESD Cause a Lethal
            Syndrome Suggestive of Osteogenesis Imperfecta Type XX
  JOURNAL   J Bone Miner Res 36 (6), 1077-1087 (2021)
   PUBMED   33596325
  REMARK    GeneRIF: Compound Heterozygous Frameshift Mutations in MESD Cause a
            Lethal Syndrome Suggestive of Osteogenesis Imperfecta Type XX.
REFERENCE   2  (bases 1 to 4200)
  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   3  (bases 1 to 4200)
  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   4  (bases 1 to 4200)
  AUTHORS   Moosa,S., Yamamoto,G.L., Garbes,L., Keupp,K., Beleza-Meireles,A.,
            Moreno,C.A., Valadares,E.R., de Sousa,S.B., Maia,S., Saraiva,J.,
            Honjo,R.S., Kim,C.A., Cabral de Menezes,H., Lausch,E., Lorini,P.V.,
            Lamounier,A. Jr., Carniero,T.C.B., Giunta,C., Rohrbach,M.,
            Janner,M., Semler,O., Beleggia,F., Li,Y., Yigit,G., Reintjes,N.,
            Altmuller,J., Nurnberg,P., Cavalcanti,D.P., Zabel,B., Warman,M.L.,
            Bertola,D.R., Wollnik,B. and Netzer,C.
  TITLE     Autosomal-Recessive Mutations in MESD Cause Osteogenesis Imperfecta
  JOURNAL   Am J Hum Genet 105 (4), 836-843 (2019)
   PUBMED   31564437
  REMARK    GeneRIF: Osteogenesis imperfecta-associated MESD mutations produce
            hypomorphic alleles whose failure to remain within the endoplasmic
            reticulum significantly reduces but does not completely eliminate
            LRP5 and LRP6 trafficking
REFERENCE   5  (bases 1 to 4200)
  AUTHORS   Taibi,A.V., Lighthouse,J.K., Grady,R.C., Shroyer,K.R. and
            Holdener,B.C.
  TITLE     Development of a conditional Mesd (mesoderm development) allele for
            functional analysis of the low-density lipoprotein receptor-related
            family in defined tissues
  JOURNAL   PLoS One 8 (10), e75782 (2013)
   PUBMED   24124512
  REMARK    Publication Status: Online-Only
REFERENCE   6  (bases 1 to 4200)
  AUTHORS   Veltman,I.M., Vreede,L.A., Cheng,J., Looijenga,L.H., Janssen,B.,
            Schoenmakers,E.F., Yeh,E.T. and van Kessel,A.G.
  TITLE     Fusion of the SUMO/Sentrin-specific protease 1 gene SENP1 and the
            embryonic polarity-related mesoderm development gene MESDC2 in a
            patient with an infantile teratoma and a constitutional
            t(12;15)(q13;q25)
  JOURNAL   Hum Mol Genet 14 (14), 1955-1963 (2005)
   PUBMED   15917269
  REMARK    GeneRIF: as a result of (12;15)(q13;q25)translocation, the
            SUMO/Sentrin-specific protease 1 gene (SENP1) on chromosome 12 and
            the embryonic polarity-related mesoderm development gene (MESDC2)
            on chromosome 15 are disrupted and fused
REFERENCE   7  (bases 1 to 4200)
  AUTHORS   Culi,J., Springer,T.A. and Mann,R.S.
  TITLE     Boca-dependent maturation of beta-propeller/EGF modules in
            low-density lipoprotein receptor proteins
  JOURNAL   EMBO J 23 (6), 1372-1380 (2004)
   PUBMED   15014448
REFERENCE   8  (bases 1 to 4200)
  AUTHORS   Hsieh,J.C., Lee,L., Zhang,L., Wefer,S., Brown,K., DeRossi,C.,
            Wines,M.E., Rosenquist,T. and Holdener,B.C.
  TITLE     Mesd encodes an LRP5/6 chaperone essential for specification of
            mouse embryonic polarity
  JOURNAL   Cell 112 (3), 355-367 (2003)
   PUBMED   12581525
REFERENCE   9  (bases 1 to 4200)
  AUTHORS   Wines,M.E., Lee,L., Katari,M.S., Zhang,L., DeRossi,C., Shi,Y.,
            Perkins,S., Feldman,M., McCombie,W.R. and Holdener,B.C.
  TITLE     Identification of mesoderm development (mesd) candidate genes by
            comparative mapping and genome sequence analysis
  JOURNAL   Genomics 72 (1), 88-98 (2001)
   PUBMED   11247670
REFERENCE   10 (bases 1 to 4200)
  AUTHORS   Scanlan,M.J., Gordan,J.D., Williamson,B., Stockert,E., Bander,N.H.,
            Jongeneel,V., Gure,A.O., Jager,D., Jager,E., Knuth,A., Chen,Y.T.
            and Old,L.J.
  TITLE     Antigens recognized by autologous antibody in patients with
            renal-cell carcinoma
  JOURNAL   Int J Cancer 83 (4), 456-464 (1999)
   PUBMED   10508479
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DA938708.1, D42039.2, BE004295.1 and DB365572.1.
            
            On Nov 22, 2018 this sequence version replaced NM_015154.2.
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the protein.
            
            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 :: SRR1660809.308851.1,
                                           SRR1803612.206805.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968189, SAMEA1968540
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000261758.6/ ENSP00000261758.4
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-25                DA938708.1         60-84
            26-2025             D42039.2           1-2000
            2026-2052           BE004295.1         54-80
            2053-4030           D42039.2           2028-4005
            4031-4200           DB365572.1         6-175               c
FEATURES             Location/Qualifiers
     source          1..4200
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /map="15q25.1"
     gene            1..4200
                     /gene="MESD"
                     /gene_synonym="BOCA; MESDC2; OI20"
                     /note="mesoderm development LRP chaperone"
                     /db_xref="GeneID:23184"
                     /db_xref="HGNC:HGNC:13520"
                     /db_xref="MIM:607783"
     exon            1..241
                     /gene="MESD"
                     /gene_synonym="BOCA; MESDC2; OI20"
                     /inference="alignment:Splign:2.1.0"
     CDS             29..733
                     /gene="MESD"
                     /gene_synonym="BOCA; MESDC2; OI20"
                     /note="LDLR chaperone MESD; mesoderm development protein;
                     renal carcinoma antigen NY-REN-61; mesoderm development
                     candidate 2; mesoderm development LRP chaperone MESD"
                     /codon_start=1
                     /product="LRP chaperone MESD precursor"
                     /protein_id="NP_055969.1"
                     /db_xref="CCDS:CCDS32308.1"
                     /db_xref="GeneID:23184"
                     /db_xref="HGNC:HGNC:13520"
                     /db_xref="MIM:607783"
                     /translation="MAASRWARKAVVLLCASDLLLLLLLLPPPGSCAAEGSPGTPDES
                     TPPPRKKKKDIRDYNDADMARLLEQWEKDDDIEEGDLPEHKRPSAPVDFSKIDPSKPE
                     SILKMTKKGKTLMMFVTVSGSPTEKETEEITSLWQGSLFNANYDVQRFIVGSDRAIFM
                     LRDGSYAWEIKDFLVGQDRCADVTLEGQVYPGKGGGSKEKNKTKQDKGKKKKEGDLKS
                     RSSKEENRAGNKREDL"
     exon            242..474
                     /gene="MESD"
                     /gene_synonym="BOCA; MESDC2; OI20"
                     /inference="alignment:Splign:2.1.0"
     exon            475..4200
                     /gene="MESD"
                     /gene_synonym="BOCA; MESDC2; OI20"
                     /inference="alignment:Splign:2.1.0"
     regulatory      966..971
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MESD"
                     /gene_synonym="BOCA; MESDC2; OI20"
                     /note="hexamer: TATAAA"
     polyA_site      988
                     /gene="MESD"
                     /gene_synonym="BOCA; MESDC2; OI20"
                     /note="major polyA site"
     regulatory      1270..1275
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MESD"
                     /gene_synonym="BOCA; MESDC2; OI20"
                     /note="hexamer: AATAGA"
     polyA_site      1292
                     /gene="MESD"
                     /gene_synonym="BOCA; MESDC2; OI20"
                     /note="major polyA site"
     regulatory      1687..1692
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MESD"
                     /gene_synonym="BOCA; MESDC2; OI20"
                     /note="hexamer: ACTAAA"
     polyA_site      1707
                     /gene="MESD"
                     /gene_synonym="BOCA; MESDC2; OI20"
     regulatory      1725..1730
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MESD"
                     /gene_synonym="BOCA; MESDC2; OI20"
                     /note="hexamer: AATAAA"
     regulatory      1744..1749
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MESD"
                     /gene_synonym="BOCA; MESDC2; OI20"
                     /note="hexamer: ATTACA"
     polyA_site      1747
                     /gene="MESD"
                     /gene_synonym="BOCA; MESDC2; OI20"
     polyA_site      1760
                     /gene="MESD"
                     /gene_synonym="BOCA; MESDC2; OI20"
     regulatory      4169..4174
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MESD"
                     /gene_synonym="BOCA; MESDC2; OI20"
                     /note="hexamer: AATAAA"
     polyA_site      4200
                     /gene="MESD"
                     /gene_synonym="BOCA; MESDC2; OI20"
ORIGIN      
        1 gtctagggcg ctgcgcggcg cagcgaaaat ggcggcttcc aggtgggcgc gcaaggccgt
       61 ggtcctgctt tgtgcctctg acctgctgct gctgctgcta ctgctaccac cgcctgggtc
      121 ctgcgcggcc gaaggctcgc ccgggacgcc cgacgagtct accccacctc cccggaagaa
      181 gaagaaggat attcgcgatt acaatgatgc agacatggcg cgtcttctgg agcaatggga
      241 gaaagatgat gacattgaag aaggagatct tccagagcac aagagacctt cagcacctgt
      301 cgacttctca aagatagacc caagcaagcc tgaaagcata ttgaaaatga cgaaaaaagg
      361 gaagactctc atgatgtttg tcactgtatc aggaagccct actgagaagg agacagagga
      421 aattacgagc ctctggcagg gcagcctttt caatgccaac tatgacgtcc agaggttcat
      481 tgtgggatca gaccgtgcta tcttcatgct tcgcgatggg agctacgcct gggagatcaa
      541 ggactttttg gtcggtcaag acaggtgtgc tgatgtaact ctggagggcc aggtgtaccc
      601 cggcaaagga ggaggaagca aagagaaaaa taaaacaaag caagacaagg gcaaaaaaaa
      661 gaaggaagga gatctgaaat ctcggtcttc caaggaagaa aatcgagctg ggaataaaag
      721 agaagacctg tgatggggca gcagtgacgc gctgtggggg gacaggtgga cgtggagagc
      781 tctttgccca gctcctgggg tgggagtggt ctcaggcaac tgcacaccgg atgacattct
      841 agtgtcttct agaaagggtc tgccacatga ccagtttgtg gtcaaagaat tactgcttaa
      901 taggcttcaa gtaagaagac agatgttttc taattaatac tggacactga caaattcatg
      961 tttactataa aatctcctta catggaaatg tgactgtgtt gctttttccc atttacactt
     1021 ggtgagtcat caactctact gagattccac tcccctccaa gcacctgctg tgattgggtg
     1081 gcctgctctg atcagatagc aaattctgat cagagaagac tttaaaactc ttgacttaat
     1141 tgagtaaact cttcatgcca tatacatcat tttcattatg ttaaaggtaa aatatgcttt
     1201 gtgaactcag atgtctgtag ccaggaagcc agggtgtgta aatccaaaat ctatgcagga
     1261 aatgcggaga atagaaaata tgtcacttga aatcctaagt agttttgaat ttctttgact
     1321 tgaatcttac tcatcagtaa gagaactctt ggtgtctgtc aggttttatg tggtctgtaa
     1381 agttaggggt tctgttttgt ttccttattt aggaaagagt actgctggtg tcgaggggtt
     1441 atatgttcca tttaatgtga cagttttaaa ggatttaagt agggaatcag agtcctttgc
     1501 agagtgtgac agacgactca ataacctcat ttgtttctaa acatttttct ttgataaagt
     1561 gcctaaatct gtgctttcgt atagagtaac atgatgtgct actgttgatg tctgattttg
     1621 ccgttcatgt tagagcctac tgtgaataag agttagaaca tttatataca gatgtcattt
     1681 ctaagaacta aaattctttg ggaaaaaccc tcaattgtga ttttaataaa ttaaaagtag
     1741 cacattacat ggttagaaaa tgtcagtgtt aaagaatggt acaaagtgaa aagtgtatcc
     1801 ctctcttgcc gccggtggta gcttgtccca gtggaagctg ctgttaacaa tttgtgcccc
     1861 cacatccccc tccctgccca tccaccaaaa aaaagtacat ttacttatgt aaatgtactt
     1921 atggtgatgt atgtttgttt tggcctcaca gcatctgttt ccccttaatt tggtagctgc
     1981 tcacatttcc ctcgaaagaa ccacaccctc tgcattctca gttctctgct ttggatggga
     2041 catttgccct gcagtccccc caccctccag gccatgccct ctccagggtg aggcctgtgt
     2101 gatctaccgt actagggtac taggccctga aagaggcttt tcttgttcct cctgcatctt
     2161 gaacctggag cgggagctgt tgtaggcccc gcccttggag aagagaactg tctgacagtg
     2221 gggagagagc gccacaccct ggtggcataa acgagtccct gaatcatgcc gtggctgaac
     2281 caagccctgt ctgtgggctt tttctgttgt actcagggca gtttgatggg gttactgtcc
     2341 tgcatagcca taatggccca gtataaagca gctgttttga tgagataatt gctttaatta
     2401 agcaaaaggt agcaaagctt tcactccgcc ctgtaccttc tgtttccact taggagcctt
     2461 cccatgtcag aatgtgcaga tctgtctcat tgtttcctgt gcagtgtgcc cccacttcac
     2521 ccagtagttt ctgtgtgtct gttatgtact aggtactaca aggtgccagg acggtgtaga
     2581 tacagcctct gctatcgtaa aactcaatga ttcggtgggg gaagacaaat gtcagtaatg
     2641 tacaaagtaa aatggcagct gttagaagta tgaaaggggc agggtagggg gaggtagaat
     2701 cttccctgac caggttaaga aaaccagagg ccttctctga gggcaagagg aggagaggag
     2761 aaatagagta aggcaggcag aggaaacagt ctgagctaag accctgtggc tagaagtggc
     2821 agagggagag gcagcaggaa ggccagcggg gaggctgggg cccagtgcag gcccaggttg
     2881 gaggagcgta gcacatggag tttggtagga gtttgggacg ccctggtgga tcttaattgt
     2941 gatggggtgg gtgtgaaagg cagtccaggt tgcactggtt gcacaggaga agtgatcaga
     3001 agaggacccc agcaggtgtg agccgtgagc tgggaggtgc ttcagtagtg caggccatag
     3061 ctgaaggtgt cctacatcag cagggtgatg gtgaggtttg aaccactgtt tcactgcata
     3121 gtccctgctg atggacactt gagtgttcag attttttgct ggtatattca gtgctgcagt
     3181 ggacattttc atacaaaata tttcggtaca cttttgttta tatctgaaag gtaaattcct
     3241 agcagtagaa ttattagagc aaacggaatt taacattttg gtgtgtattg ccaaattgcc
     3301 ctcccaagtg gtttagtcag cttacccttg ccaacaatag atctatcctt gccagccttg
     3361 ggcatcacat ttaccagttt aatagattgt aaaaccatat cttaattggc taccctgaag
     3421 ccaccatact ggagaggctg cgtacagtgt ttcacgtaga gagagggata cccaggaggc
     3481 ccacctgctc caaccccagc tgcatgagtc ttcccagccc aggcacagac atgtggataa
     3541 gatttaaaca tttccagccc cagccttcaa gcaatcctag ttgacactga ggggagccaa
     3601 cataagctga gctgagaaac agtctgccca gtctgcagat tcatgagcaa aagaaatgtt
     3661 gggctgggta cagtggctca cgcctgtaat cccagtactt tgggaggccg aggtgggtgg
     3721 atcagttgag gtcaggagtt tgagaccagc ctggccaaca tggtgaagcc ctgtctctac
     3781 taaaaattag ccgagtgtgg tggtgcgggc ctgtaatccc agctactcag gtggctgagg
     3841 caggagaatg gcttgaaccc gggaggcgga ggttgcagtg agccaagatc aggccactgc
     3901 actccagcct ggatgacggg atgagactct gtctcaaaaa aacgaaacaa aaatttttta
     3961 agagaaatgt catttgtttt tgtttttgag acagggtctc actctgttgc cctcactaga
     4021 gtgcagtagg atcacggctc actgaagtct ctacctaccg gctcaattga tcttcccacc
     4081 acagcctccc aaatagctgg gagaaatgtc ctgtttttaa tgaatttgtc ttcctttttg
     4141 tcttgtttgt tttaatatct agtgatctaa taaatttgga tgatatcttt tgactatcaa
//
