2025-05-09 20:22:18, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_001167614 4795 bp mRNA linear PRI 17-APR-2013 DEFINITION Homo sapiens LEM domain containing 3 (LEMD3), transcript variant 2, mRNA. ACCESSION NM_001167614 VERSION NM_001167614.1 GI:264681409 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 4795) AUTHORS Yuste-Chaves,M., Canueto,J., Santos-Briz,A., Ciria,S., Gonzalez-Sarmiento,R. and Unamuno,P. TITLE Buschke-Ollendorff syndrome with striking phenotypic variation resulting from a novel c.2203C>T nonsense mutation in LEMD3 JOURNAL Pediatr Dermatol 28 (4), 447-450 (2011) PUBMED 20678097 REMARK GeneRIF: Genetic analyses of three generations of a family with Buschke-Ollendorff syndrome having a variable phenotype showed a novel c.2203C>T nonsense mutation at the LEMD3 locus. The mutation induced a change in the 735 arginine codon to a stop codon. REFERENCE 2 (bases 1 to 4795) AUTHORS Huang,Y., Cai,M., Clore,G.M. and Craigie,R. TITLE No interaction of barrier-to-autointegration factor (BAF) with HIV-1 MA, cone-rod homeobox (Crx) or MAN1-C in absence of DNA JOURNAL PLoS ONE 6 (9), E25123 (2011) PUBMED 21966431 REMARK GeneRIF: The absence of direct binding of BAF to MAN1-C eliminates disruption of this interaction as the cause of the premature aging phenotype. REFERENCE 3 (bases 1 to 4795) AUTHORS Burger,B., Hershkovitz,D., Indelman,M., Kovac,M., Galambos,J., Haeusermann,P., Sprecher,E. and Itin,P.H. TITLE Buschke-Ollendorff syndrome in a three-generation family: influence of a novel LEMD3 mutation to tropoelastin expression JOURNAL Eur J Dermatol 20 (6), 693-697 (2010) PUBMED 20732851 REMARK GeneRIF: Buschke-Ollendorff syndrome in a three-generation family: influence of a novel LEMD3 mutation to tropoelastin expression. REFERENCE 4 (bases 1 to 4795) AUTHORS Baasanjav,S., Jamsheer,A., Kolanczyk,M., Horn,D., Latos,T., Hoffmann,K., Latos-Bielenska,A. and Mundlos,S. TITLE Osteopoikilosis and multiple exostoses caused by novel mutations in LEMD3 and EXT1 genes respectively--coincidence within one family JOURNAL BMC Med. Genet. 11, 110 (2010) PUBMED 20618940 REMARK GeneRIF: We found a novel c.2203C > T (p.R735X) mutation in exon 9 of LEMD3, resulting in a premature stop codon at amino acid position 735. Publication Status: Online-Only REFERENCE 5 (bases 1 to 4795) 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 4795) 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 4795) 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 4795) 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 4795) 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 4795) 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. 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 (2) uses an alternate in-frame splice site in the 5' coding region, compared to variant 1. This results in a shorter protein (isoform 2), compared to 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 :: AK312473.1 [ECO:0000332] RNAseq introns :: single sample supports all introns ERS025084 [ECO:0000348] ##Evidence-Data-END## COMPLETENESS: complete on the 3' end. PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP 1-2759 AK312473.1 1-2759 2760-4720 AF112299.2 2743-4703 4721-4795 BX390128.2 545-619 FEATURES Location/Qualifiers source 1..4795 /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /chromosome="12" /map="12q14" gene 1..4795 /gene="LEMD3" /gene_synonym="MAN1" /note="LEM domain containing 3" /db_xref="GeneID:23592" /db_xref="HGNC:28887" /db_xref="MIM:607844" exon 1..1548 /gene="LEMD3" /gene_synonym="MAN1" /inference="alignment:Splign:1.39.8" CDS 27..2759 /gene="LEMD3" /gene_synonym="MAN1" /note="isoform 2 is encoded by transcript variant 2; integral inner nuclear membrane protein; inner nuclear membrane protein Man1; LEM domain-containing protein 3" /codon_start=1 /product="inner nuclear membrane protein Man1 isoform 2" /protein_id="NP_001161086.1" /db_xref="GI:264681410" /db_xref="GeneID:23592" /db_xref="HGNC:28887" /db_xref="MIM:607844" /translation="
MAAAAASAPQQLSDEELFSQLRRYGLSPGPVTESTRPVYLKKLKKLREEEQQQHRSGGRGNKTRNSNNNNTAAATVAAAGPAAAAAAGMGVRPVSGDLSYLRTPGGLCRISASGPESLLGGPGGASAAPAAGSKVLLGFSSDESDVEASPRDQAGGGGRKDRASLQYRGLKAPPAPLAASEVTNSNSAERRKPHSWWGARRPAGPELQTPPGKDGAVEDEEGEGEDGEERDPETEEPLWASRTVNGSRLVPYSCRENYSDSEEEDDDDVASSRQVLKDDSLSRHRPRRTHSKPLPPLTAKSAGGRLETSVQGGGGLAMNDRAAAAGSLDRSRNLEEAAAAEQGGGCDQVDSSPVPRYRVNAKKLTPLLPPPLTDMDSTLDSSTGSLLKTNNHIGGGAFSVDSPRIYSNSLPPSAAVAASSSLRINHANHTGSNHTYLKNTYNKPKLSEPEEELLQQFKREEVSPTGSFSAHYLSMFLLTAACLFFLILGLTYLGMRGTGVSEDGELSKNPFGETFGKIQESEKTLMMNTLYKLHDRLAQLAGDHECGSSSQRTLSVQEAAAYLKDLGPEYEGIFNTSLQWILENGKDVGIRCVGFGPEEELTNITDVQFLQSTRPLMSFWCRFRRAFVTVTHRLLLLCLGVVMVCVVLRYMKYRWTKEEEETRQMYDMVVKIIDVLRSHNEACQENKDLQPYMPIPHVRDSLIQPHDRKKMKKVWDRAVDFLAANESRVRTETRRIGGADFLVWRWIQPSASCDKILVIPSKVWQGQAFHLDRRNSPPNSLTPCLKIRNMFDPVMEIGDQWHLAIQEAILEKCSDNDGIVHIAVDKNSREGCVYVKCLSPEYAGKAFKALHGSWFDGKLVTVKYLRLDRYHHRFPQALTSNTPLKPSNKHMNSMSHLRLRTGLTNSQGSS
" misc_feature 51..>143 /gene="LEMD3" /gene_synonym="MAN1" /note="LEM domain; Region: LEM; pfam03020" /db_xref="CDD:145916" misc_feature 444..446 /gene="LEMD3" /gene_synonym="MAN1" /experiment="experimental evidence, no additional details recorded" /note="Phosphoserine; propagated from UniProtKB/Swiss-Prot (Q9Y2U8.2); phosphorylation site" misc_feature 447..449 /gene="LEMD3" /gene_synonym="MAN1" /experiment="experimental evidence, no additional details recorded" /note="Phosphoserine; propagated from UniProtKB/Swiss-Prot (Q9Y2U8.2); phosphorylation site" misc_feature 456..458 /gene="LEMD3" /gene_synonym="MAN1" /experiment="experimental evidence, no additional details recorded" /note="Phosphoserine; propagated from UniProtKB/Swiss-Prot (Q9Y2U8.2); phosphorylation site" misc_feature 579..581 /gene="LEMD3" /gene_synonym="MAN1" /experiment="experimental evidence, no additional details recorded" /note="Phosphoserine; propagated from UniProtKB/Swiss-Prot (Q9Y2U8.2); phosphorylation site" misc_feature 585..587 /gene="LEMD3" /gene_synonym="MAN1" /experiment="experimental evidence, no additional details recorded" /note="Phosphoserine; propagated from UniProtKB/Swiss-Prot (Q9Y2U8.2); phosphorylation site" misc_feature 801..803 /gene="LEMD3" /gene_synonym="MAN1" /experiment="experimental evidence, no additional details recorded" /note="Phosphoserine; propagated from UniProtKB/Swiss-Prot (Q9Y2U8.2); phosphorylation site" misc_feature 807..809 /gene="LEMD3" /gene_synonym="MAN1" /experiment="experimental evidence, no additional details recorded" /note="Phosphoserine; propagated from UniProtKB/Swiss-Prot (Q9Y2U8.2); phosphorylation site" misc_feature 864..866 /gene="LEMD3" /gene_synonym="MAN1" /experiment="experimental evidence, no additional details recorded" /note="Phosphoserine; propagated from UniProtKB/Swiss-Prot (Q9Y2U8.2); phosphorylation site" misc_feature 1080..1082 /gene="LEMD3" /gene_synonym="MAN1" /experiment="experimental evidence, no additional details recorded" /note="Phosphoserine; propagated from UniProtKB/Swiss-Prot (Q9Y2U8.2); phosphorylation site" misc_feature 1119..1121 /gene="LEMD3" /gene_synonym="MAN1" /experiment="experimental evidence, no additional details recorded" /note="Phosphothreonine; propagated from UniProtKB/Swiss-Prot (Q9Y2U8.2); phosphorylation site" misc_feature 1230..1232 /gene="LEMD3" /gene_synonym="MAN1" /experiment="experimental evidence, no additional details recorded" /note="Phosphoserine; propagated from UniProtKB/Swiss-Prot (Q9Y2U8.2); phosphorylation site" misc_feature 1449..1511 /gene="LEMD3" /gene_synonym="MAN1" /inference="non-experimental evidence, no additional details recorded" /note="propagated from UniProtKB/Swiss-Prot (Q9Y2U8.2); transmembrane region" misc_feature <1578..2276 /gene="LEMD3" /gene_synonym="MAN1" /note="Man1-Src1p-C-terminal domain; Region: MSC; pfam09402" /db_xref="CDD:204230" misc_feature 1905..1967 /gene="LEMD3" /gene_synonym="MAN1" /inference="non-experimental evidence, no additional details recorded" /note="propagated from UniProtKB/Swiss-Prot (Q9Y2U8.2); transmembrane region" misc_feature 2118..2756 /gene="LEMD3" /gene_synonym="MAN1" /experiment="experimental evidence, no additional details recorded" /note="propagated from UniProtKB/Swiss-Prot (Q9Y2U8.2); Region: Interaction with SMAD1, SMAD2, SMAD3 and SMAD5" misc_feature 2352..2354 /gene="LEMD3" /gene_synonym="MAN1" /experiment="experimental evidence, no additional details recorded" /note="Phosphoserine; propagated from UniProtKB/Swiss-Prot (Q9Y2U8.2); phosphorylation site" misc_feature <2484..2618 /gene="LEMD3" /gene_synonym="MAN1" /note="RRM (RNA recognition motif), also known as RBD (RNA binding domain) or RNP (ribonucleoprotein domain), is a highly abundant domain in eukaryotes found in proteins involved in post-transcriptional gene expression processes including mRNA and rRNA...; Region: RRM; cd00590" /db_xref="CDD:100104" misc_feature order(2520..2522,2526..2528) /gene="LEMD3" /gene_synonym="MAN1" /note="RNA/DNA binding site [nucleotide binding]; other site" /db_xref="CDD:100104" misc_feature 2610..2618 /gene="LEMD3" /gene_synonym="MAN1" /note="RRM dimerization site [polypeptide binding]; other site" /db_xref="CDD:100104" misc_feature 2670..2672 /gene="LEMD3" /gene_synonym="MAN1" /experiment="experimental evidence, no additional details recorded" /note="Phosphothreonine; propagated from UniProtKB/Swiss-Prot (Q9Y2U8.2); phosphorylation site" misc_feature 2754..2756 /gene="LEMD3" /gene_synonym="MAN1" /experiment="experimental evidence, no additional details recorded" /note="Phosphoserine; propagated from UniProtKB/Swiss-Prot (Q9Y2U8.2); phosphorylation site" variation 60 /gene="LEMD3" /gene_synonym="MAN1" /replace="c" /replace="t" /db_xref="dbSNP:369764718" variation 65 /gene="LEMD3" /gene_synonym="MAN1" /replace="a" /replace="g" /db_xref="dbSNP:373288363" variation 80 /gene="LEMD3" /gene_synonym="MAN1" /replace="c" /replace="g" /db_xref="dbSNP:377077013" variation 121 /gene="LEMD3" /gene_synonym="MAN1" /replace="c" /replace="t" /db_xref="dbSNP:201950187" variation 188 /gene="LEMD3" /gene_synonym="MAN1" /replace="c" /replace="t" /db_xref="dbSNP:150212307" variation 191 /gene="LEMD3" /gene_synonym="MAN1" /replace="c" /replace="g" /db_xref="dbSNP:138821698" variation 362 /gene="LEMD3" /gene_synonym="MAN1" /replace="c" /replace="t" /db_xref="dbSNP:61736594" variation 404 /gene="LEMD3" /gene_synonym="MAN1" /replace="c" /replace="t" /db_xref="dbSNP:61736593" variation 619 /gene="LEMD3" /gene_synonym="MAN1" /replace="a" /replace="g" /db_xref="dbSNP:201695195" variation 687 /gene="LEMD3" /gene_synonym="MAN1" /replace="c" /replace="g" /db_xref="dbSNP:904411" variation 776 /gene="LEMD3" /gene_synonym="MAN1" /replace="c" /replace="g" /db_xref="dbSNP:148964879" variation 779 /gene="LEMD3" /gene_synonym="MAN1" /replace="c" /replace="t" /db_xref="dbSNP:201160057" variation 804 /gene="LEMD3" /gene_synonym="MAN1" /replace="g" /replace="t" /db_xref="dbSNP:7487311" variation 835 /gene="LEMD3" /gene_synonym="MAN1" /replace="c" /replace="t" /db_xref="dbSNP:147082719" variation 860 /gene="LEMD3" /gene_synonym="MAN1" /replace="c" /replace="t" /db_xref="dbSNP:200222837" variation 861 /gene="LEMD3" /gene_synonym="MAN1" /replace="c" /replace="g" /db_xref="dbSNP:376432823" variation 884 /gene="LEMD3" /gene_synonym="MAN1" /replace="c" /replace="t" /db_xref="dbSNP:138509307" variation 888 /gene="LEMD3" /gene_synonym="MAN1" /replace="c" /replace="g" /db_xref="dbSNP:144086377" variation 896 /gene="LEMD3" /gene_synonym="MAN1" /replace="c" /replace="t" /db_xref="dbSNP:147328826" variation 919 /gene="LEMD3" /gene_synonym="MAN1" /replace="c" /replace="t" /db_xref="dbSNP:199824717" variation 930 /gene="LEMD3" /gene_synonym="MAN1" /replace="g" /replace="t" /db_xref="dbSNP:374194981" variation 932 /gene="LEMD3" /gene_synonym="MAN1" /replace="c" /replace="t" /db_xref="dbSNP:376059733" variation 933 /gene="LEMD3" /gene_synonym="MAN1" /replace="g" /replace="t" /db_xref="dbSNP:35221558" variation 939 /gene="LEMD3" /gene_synonym="MAN1" /replace="a" /replace="g" /db_xref="dbSNP:200784504" variation 963 /gene="LEMD3" /gene_synonym="MAN1" /replace="c" /replace="g" /db_xref="dbSNP:200070970" variation 964 /gene="LEMD3" /gene_synonym="MAN1" /replace="g" /replace="t" /db_xref="dbSNP:201615997" variation 969 /gene="LEMD3" /gene_synonym="MAN1" /replace="c" /replace="g" /db_xref="dbSNP:201228238" variation 974 /gene="LEMD3" /gene_synonym="MAN1" /replace="c" /replace="t" /db_xref="dbSNP:183253527" variation 979 /gene="LEMD3" /gene_synonym="MAN1" /replace="c" /replace="t" /db_xref="dbSNP:199902847" variation 986 /gene="LEMD3" /gene_synonym="MAN1" /replace="c" /replace="g" /db_xref="dbSNP:372553791" variation 1001 /gene="LEMD3" /gene_synonym="MAN1" /replace="c" /replace="g" /db_xref="dbSNP:375580551" variation 1026 /gene="LEMD3" /gene_synonym="MAN1" /replace="c" /replace="g" /db_xref="dbSNP:147262660" variation 1039 /gene="LEMD3" /gene_synonym="MAN1" /replace="c" /replace="t" /db_xref="dbSNP:150526974" variation 1089 /gene="LEMD3" /gene_synonym="MAN1" /replace="c" /replace="t" /db_xref="dbSNP:202161021" variation 1101 /gene="LEMD3" /gene_synonym="MAN1" /replace="a" /replace="g" /db_xref="dbSNP:376822761" variation 1123 /gene="LEMD3" /gene_synonym="MAN1" /replace="c" /replace="t" /db_xref="dbSNP:199884145" variation 1125 /gene="LEMD3" /gene_synonym="MAN1" /replace="c" /replace="t" /db_xref="dbSNP:139507581" variation 1129 /gene="LEMD3" /gene_synonym="MAN1" /replace="c" /replace="t" /db_xref="dbSNP:202245561" variation 1131 /gene="LEMD3" /gene_synonym="MAN1" /replace="c" /replace="t" /db_xref="dbSNP:371098833" variation 1134 /gene="LEMD3" /gene_synonym="MAN1" /replace="a" /replace="c" /db_xref="dbSNP:200288324" variation 1135 /gene="LEMD3" /gene_synonym="MAN1" /replace="c" /replace="t" /db_xref="dbSNP:201542546" variation 1161 /gene="LEMD3" /gene_synonym="MAN1" /replace="c" /replace="t" /db_xref="dbSNP:368502571" variation 1173 /gene="LEMD3" /gene_synonym="MAN1" /replace="a" /replace="g" /db_xref="dbSNP:143295477" variation 1180 /gene="LEMD3" /gene_synonym="MAN1" /replace="c" /replace="t" /db_xref="dbSNP:372588607" variation 1185 /gene="LEMD3" /gene_synonym="MAN1" /replace="c" /replace="t" /db_xref="dbSNP:146241425" variation 1204 /gene="LEMD3" /gene_synonym="MAN1" /replace="c" /replace="t" /db_xref="dbSNP:367612390" variation 1220 /gene="LEMD3" /gene_synonym="MAN1" /replace="a" /replace="c" /db_xref="dbSNP:372402033" variation 1231 /gene="LEMD3" /gene_synonym="MAN1" /replace="c" /replace="t" /db_xref="dbSNP:139346096" variation 1276 /gene="LEMD3" /gene_synonym="MAN1" /replace="c" /replace="t" /db_xref="dbSNP:199605857" variation 1296 /gene="LEMD3" /gene_synonym="MAN1" /replace="a" /replace="g" /db_xref="dbSNP:201129667" variation 1356 /gene="LEMD3" /gene_synonym="MAN1" /replace="c" /replace="g" /db_xref="dbSNP:144127577" variation 1371 /gene="LEMD3" /gene_synonym="MAN1" /replace="c" /replace="t" /db_xref="dbSNP:371748000" variation 1376 /gene="LEMD3" /gene_synonym="MAN1" /replace="a" /replace="g" /db_xref="dbSNP:145116568" variation 1419 /gene="LEMD3" /gene_synonym="MAN1" /replace="a" /replace="g" /db_xref="dbSNP:376067130" variation 1425 /gene="LEMD3" /gene_synonym="MAN1" /replace="a" /replace="g" /db_xref="dbSNP:199915804" variation 1453 /gene="LEMD3" /gene_synonym="MAN1" /replace="g" /replace="t" /db_xref="dbSNP:371901972" variation 1462 /gene="LEMD3" /gene_synonym="MAN1" /replace="c" /replace="t" /db_xref="dbSNP:200415494" variation 1463 /gene="LEMD3" /gene_synonym="MAN1" /replace="g" /replace="t" /db_xref="dbSNP:149129862" variation 1524 /gene="LEMD3" /gene_synonym="MAN1" /replace="g" /replace="t" /db_xref="dbSNP:142265837" variation 1540 /gene="LEMD3" /gene_synonym="MAN1" /replace="a" /replace="g" /db_xref="dbSNP:375079599" exon 1549..1583 /gene="LEMD3" /gene_synonym="MAN1" /inference="alignment:Splign:1.39.8" variation 1557 /gene="LEMD3" /gene_synonym="MAN1" /replace="g" /replace="t" /db_xref="dbSNP:369113542" exon 1584..1650 /gene="LEMD3" /gene_synonym="MAN1" /inference="alignment:Splign:1.39.8" variation 1609 /gene="LEMD3" /gene_synonym="MAN1" /replace="a" /replace="g" /db_xref="dbSNP:151256200" exon 1651..1718 /gene="LEMD3" /gene_synonym="MAN1" /inference="alignment:Splign:1.39.8" variation 1684 /gene="LEMD3" /gene_synonym="MAN1" /replace="c" /replace="t" /db_xref="dbSNP:188376092" variation 1711 /gene="LEMD3" /gene_synonym="MAN1" /replace="a" /replace="g" /db_xref="dbSNP:375964932" exon 1719..1798 /gene="LEMD3" /gene_synonym="MAN1" /inference="alignment:Splign:1.39.8" variation 1728 /gene="LEMD3" /gene_synonym="MAN1" /replace="c" /replace="t" /db_xref="dbSNP:374655981" variation 1743 /gene="LEMD3" /gene_synonym="MAN1" /replace="a" /replace="g" /db_xref="dbSNP:374107839" variation 1745 /gene="LEMD3" /gene_synonym="MAN1" /replace="a" /replace="g" /db_xref="dbSNP:368041039" variation 1767 /gene="LEMD3" /gene_synonym="MAN1" /replace="a" /replace="g" /db_xref="dbSNP:371485270" variation 1769 /gene="LEMD3" /gene_synonym="MAN1" /replace="c" /replace="t" /db_xref="dbSNP:140496862" variation 1786 /gene="LEMD3" /gene_synonym="MAN1" /replace="a" /replace="g" /db_xref="dbSNP:112859075" exon 1799..1944 /gene="LEMD3" /gene_synonym="MAN1" /inference="alignment:Splign:1.39.8" variation 1833 /gene="LEMD3" /gene_synonym="MAN1" /replace="a" /replace="g" /db_xref="dbSNP:185283829" variation 1847 /gene="LEMD3" /gene_synonym="MAN1" /replace="g" /replace="t" /db_xref="dbSNP:372338782" variation 1861 /gene="LEMD3" /gene_synonym="MAN1" /replace="a" /replace="c" /db_xref="dbSNP:368604047" variation 1890 /gene="LEMD3" /gene_synonym="MAN1" /replace="c" /replace="t" /db_xref="dbSNP:200189969" variation 1902 /gene="LEMD3" /gene_synonym="MAN1" /replace="a" /replace="g" /db_xref="dbSNP:376680164" variation 1922 /gene="LEMD3" /gene_synonym="MAN1" /replace="c" /replace="t" /db_xref="dbSNP:200578207" exon 1945..2046 /gene="LEMD3" /gene_synonym="MAN1" /inference="alignment:Splign:1.39.8" variation 1956 /gene="LEMD3" /gene_synonym="MAN1" /replace="a" /replace="g" /db_xref="dbSNP:369133002" variation 1964 /gene="LEMD3" /gene_synonym="MAN1" /replace="c" /replace="g" /db_xref="dbSNP:373040508" variation 1972 /gene="LEMD3" /gene_synonym="MAN1" /replace="a" /replace="g" /db_xref="dbSNP:202030550" variation 1986 /gene="LEMD3" /gene_synonym="MAN1" /replace="c" /replace="t" /db_xref="dbSNP:267607217" variation 2004 /gene="LEMD3" /gene_synonym="MAN1" /replace="a" /replace="g" /db_xref="dbSNP:374790398" exon 2047..2149 /gene="LEMD3" /gene_synonym="MAN1" /inference="alignment:Splign:1.39.8" variation 2050 /gene="LEMD3" /gene_synonym="MAN1" /replace="c" /replace="t" /db_xref="dbSNP:201433608" variation 2062 /gene="LEMD3" /gene_synonym="MAN1" /replace="a" /replace="g" /db_xref="dbSNP:200391612" variation 2079 /gene="LEMD3" /gene_synonym="MAN1" /replace="a" /replace="g" /db_xref="dbSNP:147072982" variation 2086 /gene="LEMD3" /gene_synonym="MAN1" /replace="a" /replace="g" /db_xref="dbSNP:199542833" variation 2115 /gene="LEMD3" /gene_synonym="MAN1" /replace="c" /replace="g" /db_xref="dbSNP:369198842" variation 2121 /gene="LEMD3" /gene_synonym="MAN1" /replace="c" /replace="t" /db_xref="dbSNP:373577886" variation 2122 /gene="LEMD3" /gene_synonym="MAN1" /replace="a" /replace="g" /db_xref="dbSNP:367618543" variation 2123 /gene="LEMD3" /gene_synonym="MAN1" /replace="c" /replace="t" /db_xref="dbSNP:199712960" variation 2125 /gene="LEMD3" /gene_synonym="MAN1" /replace="a" /replace="g" /db_xref="dbSNP:370494111" variation 2130 /gene="LEMD3" /gene_synonym="MAN1" /replace="c" /replace="t" /db_xref="dbSNP:373975270" exon 2150..2328 /gene="LEMD3" /gene_synonym="MAN1" /inference="alignment:Splign:1.39.8" variation 2180 /gene="LEMD3" /gene_synonym="MAN1" /replace="c" /replace="t" /db_xref="dbSNP:368699453" variation 2218 /gene="LEMD3" /gene_synonym="MAN1" /replace="c" /replace="t" /db_xref="dbSNP:376437712" variation 2219 /gene="LEMD3" /gene_synonym="MAN1" /replace="a" /replace="g" /db_xref="dbSNP:138445113" variation 2238 /gene="LEMD3" /gene_synonym="MAN1" /replace="a" /replace="g" /db_xref="dbSNP:180693560" variation 2265 /gene="LEMD3" /gene_synonym="MAN1" /replace="a" /replace="g" /db_xref="dbSNP:76293710" variation 2286 /gene="LEMD3" /gene_synonym="MAN1" /replace="a" /replace="g" /db_xref="dbSNP:142542896" exon 2329..2410 /gene="LEMD3" /gene_synonym="MAN1" /inference="alignment:Splign:1.39.8" variation 2354 /gene="LEMD3" /gene_synonym="MAN1" /replace="a" /replace="c" /db_xref="dbSNP:146896083" variation 2409 /gene="LEMD3" /gene_synonym="MAN1" /replace="a" /replace="t" /db_xref="dbSNP:200170180" exon 2411..2516 /gene="LEMD3" /gene_synonym="MAN1" /inference="alignment:Splign:1.39.8" variation 2420 /gene="LEMD3" /gene_synonym="MAN1" /replace="g" /replace="t" /db_xref="dbSNP:138951987" variation 2483 /gene="LEMD3" /gene_synonym="MAN1" /replace="g" /replace="t" /db_xref="dbSNP:199856827" exon 2517..2595 /gene="LEMD3" /gene_synonym="MAN1" /inference="alignment:Splign:1.39.8" variation 2519 /gene="LEMD3" /gene_synonym="MAN1" /replace="c" /replace="t" /db_xref="dbSNP:201325184" variation 2557 /gene="LEMD3" /gene_synonym="MAN1" /replace="a" /replace="g" /db_xref="dbSNP:200089211" variation 2577 /gene="LEMD3" /gene_synonym="MAN1" /replace="c" /replace="t" /db_xref="dbSNP:367781819" variation 2582 /gene="LEMD3" /gene_synonym="MAN1" /replace="c" /replace="t" /db_xref="dbSNP:371626791" variation 2587 /gene="LEMD3" /gene_synonym="MAN1" /replace="a" /replace="g" /db_xref="dbSNP:267607216" exon 2596..4795 /gene="LEMD3" /gene_synonym="MAN1" /inference="alignment:Splign:1.39.8" variation 2622 /gene="LEMD3" /gene_synonym="MAN1" /replace="c" /replace="t" /db_xref="dbSNP:376937981" variation 2641 /gene="LEMD3" /gene_synonym="MAN1" /replace="a" /replace="g" /db_xref="dbSNP:149439907" variation 2645 /gene="LEMD3" /gene_synonym="MAN1" /replace="c" /replace="g" /db_xref="dbSNP:143860838" variation 2660 /gene="LEMD3" /gene_synonym="MAN1" /replace="c" /replace="t" /db_xref="dbSNP:369210837" variation 2668 /gene="LEMD3" /gene_synonym="MAN1" /replace="a" /replace="g" /db_xref="dbSNP:201986205" variation 2676 /gene="LEMD3" /gene_synonym="MAN1" /replace="c" /replace="t" /db_xref="dbSNP:371624142" variation 2681 /gene="LEMD3" /gene_synonym="MAN1" /replace="a" /replace="g" /db_xref="dbSNP:17101179" variation 2684 /gene="LEMD3" /gene_synonym="MAN1" /replace="a" /replace="g" /db_xref="dbSNP:141624082" variation 2688 /gene="LEMD3" /gene_synonym="MAN1" /replace="a" /replace="g" /db_xref="dbSNP:146215492" variation 2718 /gene="LEMD3" /gene_synonym="MAN1" /replace="c" /replace="t" /db_xref="dbSNP:201280850" variation 2724 /gene="LEMD3" /gene_synonym="MAN1" /replace="c" /replace="t" /db_xref="dbSNP:201930700" variation 2725 /gene="LEMD3" /gene_synonym="MAN1" /replace="a" /replace="g" /db_xref="dbSNP:376532238" variation 2738 /gene="LEMD3" /gene_synonym="MAN1" /replace="c" /replace="t" /db_xref="dbSNP:139254649" variation 2772 /gene="LEMD3" /gene_synonym="MAN1" /replace="c" /replace="t" /db_xref="dbSNP:369548419" variation 2773 /gene="LEMD3" /gene_synonym="MAN1" /replace="c" /replace="t" /db_xref="dbSNP:373665363" variation 2796 /gene="LEMD3" /gene_synonym="MAN1" /replace="a" /replace="g" /db_xref="dbSNP:374013073" variation 2810 /gene="LEMD3" /gene_synonym="MAN1" /replace="a" /replace="g" /db_xref="dbSNP:376436071" variation 2929 /gene="LEMD3" /gene_synonym="MAN1" /replace="a" /replace="g" /db_xref="dbSNP:146145624" variation 2984 /gene="LEMD3" /gene_synonym="MAN1" /replace="a" /replace="g" /db_xref="dbSNP:139476203" variation 3006 /gene="LEMD3" /gene_synonym="MAN1" /replace="a" /replace="g" /db_xref="dbSNP:202237128" variation 3054 /gene="LEMD3" /gene_synonym="MAN1" /replace="a" /replace="c" /db_xref="dbSNP:200928805" variation 3099 /gene="LEMD3" /gene_synonym="MAN1" /replace="g" /replace="t" /db_xref="dbSNP:188694142" variation 3121 /gene="LEMD3" /gene_synonym="MAN1" /replace="c" /replace="t" /db_xref="dbSNP:181182810" variation 3235 /gene="LEMD3" /gene_synonym="MAN1" /replace="c" /replace="t" /db_xref="dbSNP:144515474" variation 3271 /gene="LEMD3" /gene_synonym="MAN1" /replace="a" /replace="g" /db_xref="dbSNP:375342655" variation 3312 /gene="LEMD3" /gene_synonym="MAN1" /replace="a" /replace="g" /db_xref="dbSNP:183716212" variation 3414 /gene="LEMD3" /gene_synonym="MAN1" /replace="c" /replace="t" /db_xref="dbSNP:12302249" variation 3447 /gene="LEMD3" /gene_synonym="MAN1" /replace="c" /replace="t" /db_xref="dbSNP:188087693" variation 3504 /gene="LEMD3" /gene_synonym="MAN1" /replace="a" /replace="t" /db_xref="dbSNP:148427854" variation 3524 /gene="LEMD3" /gene_synonym="MAN1" /replace="a" /replace="c" /db_xref="dbSNP:199619679" variation 3643 /gene="LEMD3" /gene_synonym="MAN1" /replace="a" /replace="g" /db_xref="dbSNP:117029005" variation 3654 /gene="LEMD3" /gene_synonym="MAN1" /replace="c" /replace="t" /db_xref="dbSNP:182177872" variation 3661 /gene="LEMD3" /gene_synonym="MAN1" /replace="a" /replace="g" /db_xref="dbSNP:145080926" variation 3674 /gene="LEMD3" /gene_synonym="MAN1" /replace="g" /replace="t" /db_xref="dbSNP:117013092" variation 3831 /gene="LEMD3" /gene_synonym="MAN1" /replace="a" /replace="g" /db_xref="dbSNP:147617140" variation 3905 /gene="LEMD3" /gene_synonym="MAN1" /replace="a" /replace="g" /db_xref="dbSNP:187260879" variation 3915 /gene="LEMD3" /gene_synonym="MAN1" /replace="a" /replace="g" /db_xref="dbSNP:11175698" variation 4097 /gene="LEMD3" /gene_synonym="MAN1" /replace="a" /replace="g" /db_xref="dbSNP:189997214" variation 4115 /gene="LEMD3" /gene_synonym="MAN1" /replace="g" /replace="t" /db_xref="dbSNP:182146635" variation 4153 /gene="LEMD3" /gene_synonym="MAN1" /replace="c" /replace="t" /db_xref="dbSNP:186082338" variation 4240 /gene="LEMD3" /gene_synonym="MAN1" /replace="c" /replace="t" /db_xref="dbSNP:113095916" variation 4394 /gene="LEMD3" /gene_synonym="MAN1" /replace="a" /replace="g" /db_xref="dbSNP:12304180" STS 4615..4739 /gene="LEMD3" /gene_synonym="MAN1" /standard_name="WI-14580" /db_xref="UniSTS:11587" variation 4639 /gene="LEMD3" /gene_synonym="MAN1" /replace="a" /replace="g" /db_xref="dbSNP:2888" variation 4660 /gene="LEMD3" /gene_synonym="MAN1" /replace="c" /replace="t" /db_xref="dbSNP:12071" variation 4684 /gene="LEMD3" /gene_synonym="MAN1" /replace="g" /replace="t" /db_xref="dbSNP:144538196" variation 4710 /gene="LEMD3" /gene_synonym="MAN1" /replace="c" /replace="t" /db_xref="dbSNP:11175699" polyA_signal 4741..4746 /gene="LEMD3" /gene_synonym="MAN1" variation 4752 /gene="LEMD3" /gene_synonym="MAN1" /replace="a" /replace="g" /db_xref="dbSNP:201552989" polyA_site 4761 /gene="LEMD3" /gene_synonym="MAN1" /note="The 3'-most polyA site has not been determined. This is an internal polyA site." variation 4766 /gene="LEMD3" /gene_synonym="MAN1" /replace="a" /replace="g" /db_xref="dbSNP:139957956" ORIGIN
agcttgtaaaacaccctggagagaaaatggcggcggcagcagcttcggcgcctcagcagctctcggatgaggagcttttctctcagctccgccgttacggcctgtctcccggaccagtgacggagagcacccgcccggtctacctcaagaagctgaagaagcttcgagaggaagagcagcaacagcaccggtcagggggccgcggcaacaagacgcggaacagtaataacaataacacggcagccgccacggtcgcagccgcgggaccagcggcggcggcggccgcggggatgggggtccggccggtctcgggcgacctctcctacttacggactcctgggggcctgtgccgaatctcggcctctggcccagagagcctcctgggagggcccgggggcgcctccgccgcccccgcggctggcagcaaagtgctgctgggcttcagctcggacgagtcggacgtggaggccagtccccgggaccaggccggcggcggcgggaggaaagaccgggcttcgctccagtaccgcgggctcaaagcgccgccggcgcccctggccgccagcgaggtgactaacagcaactctgcagagcgaaggaagccccactcgtggtggggggccaggaggccggcgggccccgagctgcagaccccgccggggaaagatggagcagtggaggacgaggaaggggagggagaggacggtgaggagagggacccggagaccgaggagccgctctgggcgagccggaccgtgaatggcagccggcttgtcccctacagctgccgggaaaactattcggactcagaggaagaggacgacgacgacgtggcctccagcagacaggtattaaaggacgactccctttcccggcatcggcccagacgaacccatagtaagcctctccccccgctgactgctaaatcggccggcggcaggctggagacttcagttcagggagggggaggactcgcgatgaatgacagggcggcggctgccgggagtctagacaggagccgaaacctcgaagaggcggcggccgcggagcagggaggagggtgtgatcaagtggactccagccccgttcctagataccgtgttaacgctaagaaactgacccctctcctgcccccgccacttactgacatggactcaaccttggattcgtcaacaggctcccttctgaaaaccaataatcatattggcggtggggccttcagtgtggactcccccaggatttattctaacagtctccctcccagtgcggcggtggccgcctctagttcactcaggatcaatcacgccaatcatacgggctccaatcatacctacctgaaaaacacatacaacaaaccgaagctttccgaacccgaagaggaacttctccagcaatttaaacgggaggaggtgtccccaacagggagtttcagtgcccactacttgtcgatgtttctcttaactgctgcctgcttatttttcctaatactgggactgacttacctaggaatgagagggacaggagtatctgaggatggagaactcagcaaaaacccctttggtgaaacatttggaaaaatacaagaaagtgaaaaaactcttatgatgaacacattatataagcttcatgatcgattggcacagcttgcaggagatcatgaatgtggcagttctagtcaaagaacgctttctgttcaagaggcagctgcgtatttaaaagatttaggtcctgaatatgaaggtatatttaacacttcattgcagtggatcttagaaaatggaaaagatgttggaataaggtgtgttggttttggccctgaggaagaattgacaaatataactgatgtgcagtttttacagtccacaagaccactgatgtctttttggtgtcgttttcgacgtgcttttgttactgtaactcacagattattgttgttatgcttaggtgtagtgatggtttgtgtcgttctgcgttacatgaaatatcgatggacaaaagaagaggaggaaacaaggcagatgtatgatatggtggtaaagattatagatgttttacgaagtcataatgaagcctgccaggaaaacaaagatttacaaccttacatgcctattccacatgtacgcgattccttaatacagcctcatgacaggaaaaaaatgaagaaagtctgggatagagctgttgacttccttgctgctaatgagtctagagttcgcacggaaacacgaagaataggtggtgcagattttctggtttggcggtggatccagccttctgcatcctgtgacaaaatattagttataccttctaaagtatggcaaggtcaagcatttcatttagatagaagaaattcaccaccaaatagtttgacaccgtgtctaaagattcggaatatgtttgatcccgttatggaaataggggatcagtggcatttggcaattcaagaagcaattttagaaaaatgcagtgataatgatggcattgttcacattgcagtagacaaaaattcacgtgagggttgtgtatatgttaaatgtctgtctccagaatatgctggaaaggcttttaaagcattgcatggctcttggtttgatgggaaattggttacagtaaaatatttacgactagatagataccaccatcgctttccccaggctctcacttccaacactccattgaagccatcaaataaacatatgaactccatgtctcatcttcgtcttcggactggcctaaccaattctcaaggaagttcctgaaaagattttcttccatttctaagactgttatttacaataggaaaattcctgtttggctttttgtcttcctttttaaatgctttttgtatgtaatatttttattgatgaatacatctctgaacgttccagaagtcttaaggttccaaagggatttagcagtgaggcagcaatgctgagtaggtaggataattatttcattcagtttttggagctcagttaagccaatacatttaaagttttgcatgaggaacactgactttattaagcattttcagatgtggtggttgtatttttgccccaagaagtgtttggataaccacacaaaagcatgatgaaaaggcttcttgtagtcccataatttcttgtgaactaatgttgtgaatttttgtatacagtcacctgcatagttcctacaggctaatgtggtaaaactgttgatttcccaatttaaccttaggtttctgttgcttataagcgattcatttgctacggctggaatatgggaaaattaatttgggcttagtggttacaaatatgtgtaagtggatgtatatgtacttaaactggctttgtatatatgtataaatgctggtggtggtgaaagtagtcttgttttatgaggatgtctgcattaaagcagtaaaataagctttccattttattcataatctaatgtgtgtgtatatatgtatgtgtgtatgtgtgtgtatatatagatgtatatatatacacacacagagatatatacatatggctgtacttttgcatagatcaaacagccaaacacctggaagtattagatacaagtttaaaatatcttttataggttttatataaaaatgtctgagtatgattttgtgtgaaagttctgataccagttgtaatagagtcaaatttatgtgagcaataaagaagaaattggcagatattggaaaaatattttgtgaaaagctgtatttattataaatactagggccatgacatagtaccattggggttaagtcattttcccaatctatttataatttaatgatatgttagtgcctctgttatatgtcaagtttaaagcagggcacattgttgcagcaaaatgtgtatttgacaaattatacttgcaattttgggtcatgaaagtttgcaatatagtaaatgcacgattgactgttgctttgtgcctcagtatttaatttgtttcagtaaacttactttattactgtttatgatttcagataaaaatagttgctgagtaaattttacttgtaatctacaattggctttttaaaaataacctgttgatatataattgtcagtccaaatgaatatgtgaaacagctggaattgtacaaattttggttgtatttaaagctcagtttcctttttgttttattgtatgcgttgggtttgcagcatgaacttgcacagataatgcacgttttctggttaagtaaacatgatgcacactattctgtaacagaaagccctattgtgccttacctgtgtgcttttgtgggcaccttgtttatgaagaataaaaaatgatttgttatctgaagagaataaattttaaattctcagtttatgtctcagatgctaacgtgtgaaaatataaatatatataatatataaagtaaccagtcttcctgtattttatgtgcatcatagtgatttatctgagcttagtgacccccatcttgtaacctgttgcaagagtgaatgtaaaaaatagttgtggcattttaaaaggtcgcctttgatgcagatgcatctttttcttgcttctaaaacatatttcatgtaaacattgtacatttattattgtaatatatactattatgcagcttattttacctgaaactgttaagccgaccaagatccctccctgcaagacagatgggaatgtgtataataactaggtatttgagaagttctgaagtttgatgtaatctgttacttgtcctgttaaaaaaaggaaaaaattctaattaaaaatttattagtttttttttatgtgtcttggctttttaaaaacattttaa
//
ANNOTATIONS from NCBI Entrez Gene (20130726): GeneID:23592 -> Molecular function: GO:0000166 [nucleotide binding] evidence: IEA GeneID:23592 -> Molecular function: GO:0003677 [DNA binding] evidence: IEA GeneID:23592 -> Molecular function: GO:0005515 [protein binding] evidence: IPI GeneID:23592 -> Biological process: GO:0030512 [negative regulation of transforming growth factor beta receptor signaling pathway] evidence: IDA GeneID:23592 -> Biological process: GO:0030514 [negative regulation of BMP signaling pathway] evidence: IDA GeneID:23592 -> Biological process: GO:0032926 [negative regulation of activin receptor signaling pathway] evidence: IDA GeneID:23592 -> Biological process: GO:0035914 [skeletal muscle cell differentiation] evidence: IEA GeneID:23592 -> Biological process: GO:0051726 [regulation of cell cycle] evidence: IEA GeneID:23592 -> Cellular component: GO:0005637 [nuclear inner membrane] evidence: IDA GeneID:23592 -> Cellular component: GO:0005639 [integral to nuclear inner membrane] evidence: IEA GeneID:23592 -> Cellular component: GO:0016020 [membrane] evidence: TAS GeneID:23592 -> Cellular component: GO:0016021 [integral to membrane] evidence: IDA
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