2024-05-04 21:12:36, GGRNA.v2 : RefSeq release 222 (Jan, 2024)
LOCUS NR_176353 2987 bp RNA linear PRI 23-JAN-2023 DEFINITION Homo sapiens tropomyosin 1 (TPM1), transcript variant 22, non-coding RNA. ACCESSION NR_176353 VERSION NR_176353.1 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 2987) AUTHORS Nefedova VV, Kopylova GV, Shchepkin DV, Kochurova AM, Kechko OI, Borzova VA, Ryabkova NS, Katrukha IA, Mitkevich VA, Bershitsky SY, Levitsky DI and Matyushenko AM. TITLE Impact of Troponin in Cardiomyopathy Development Caused by Mutations in Tropomyosin JOURNAL Int J Mol Sci 23 (24), 15723 (2022) PUBMED 36555368 REMARK GeneRIF: Impact of Troponin in Cardiomyopathy Development Caused by Mutations in Tropomyosin. Publication Status: Online-Only REFERENCE 2 (bases 1 to 2987) AUTHORS Li C, Hong S, Hu H, Liu T, Yan G and Sun D. TITLE MYC-Induced Upregulation of Lncrna ELFN1-AS1 Contributes to Tumor Growth in Colorectal Cancer via Epigenetically Silencing TPM1 JOURNAL Mol Cancer Res 20 (11), 1697-1708 (2022) PUBMED 35857351 REMARK GeneRIF: MYC-Induced Upregulation of Lncrna ELFN1-AS1 Contributes to Tumor Growth in Colorectal Cancer via Epigenetically Silencing TPM1. REFERENCE 3 (bases 1 to 2987) AUTHORS Teekakirikul P, Zhu W, Xu X, Young CB, Tan T, Smith AM, Wang C, Peterson KA, Gabriel GC, Ho S, Sheng Y, Moreau de Bellaing A, Sonnenberg DA, Lin JH, Fotiou E, Tenin G, Wang MX, Wu YL, Feinstein T, Devine W, Gou H, Bais AS, Glennon BJ, Zahid M, Wong TC, Ahmad F, Rynkiewicz MJ, Lehman WJ, Keavney B, Alastalo TP, Freckmann ML, Orwig K, Murray S, Ware SM, Zhao H, Feingold B and Lo CW. TITLE Genetic resiliency associated with dominant lethal TPM1 mutation causing atrial septal defect with high heritability JOURNAL Cell Rep Med 3 (2), 100501 (2022) PUBMED 35243414 REMARK GeneRIF: Genetic resiliency associated with dominant lethal TPM1 mutation causing atrial septal defect with high heritability. Publication Status: Online-Only REFERENCE 4 (bases 1 to 2987) AUTHORS Man Y, Yi C, Fan M, Yang T, Liu P, Liu S and Wang G. TITLE Identification of a novel missense mutation in the TPM1 gene via exome sequencing in a Chinese family with dilated cardiomyopathy: A case report and literature review JOURNAL Medicine (Baltimore) 101 (2), e28551 (2022) PUBMED 35029218 REMARK GeneRIF: Identification of a novel missense mutation in the TPM1 gene via exome sequencing in a Chinese family with dilated cardiomyopathy: A case report and literature review. Review article REFERENCE 5 (bases 1 to 2987) AUTHORS Geeves MA, Hitchcock-DeGregori SE and Gunning PW. TITLE A systematic nomenclature for mammalian tropomyosin isoforms JOURNAL J Muscle Res Cell Motil 36 (2), 147-153 (2015) PUBMED 25369766 REMARK Review article REFERENCE 6 (bases 1 to 2987) AUTHORS Cirino,A.L. and Ho,C. TITLE Hypertrophic Cardiomyopathy Overview JOURNAL (in) Adam MP, Everman DB, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW and Amemiya A (Eds.); GENEREVIEWS(R); (1993) PUBMED 20301725 REFERENCE 7 (bases 1 to 2987) AUTHORS Hershberger,R.E. and Jordan,E. TITLE Dilated Cardiomyopathy Overview JOURNAL (in) Adam MP, Everman DB, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW and Amemiya A (Eds.); GENEREVIEWS(R); (1993) PUBMED 20301486 REFERENCE 8 (bases 1 to 2987) AUTHORS Chevray PM and Nathans D. TITLE Protein interaction cloning in yeast: identification of mammalian proteins that react with the leucine zipper of Jun JOURNAL Proc Natl Acad Sci U S A 89 (13), 5789-5793 (1992) PUBMED 1631061 REFERENCE 9 (bases 1 to 2987) AUTHORS Lees-Miller JP and Helfman DM. TITLE The molecular basis for tropomyosin isoform diversity JOURNAL Bioessays 13 (9), 429-437 (1991) PUBMED 1796905 REMARK Review article REFERENCE 10 (bases 1 to 2987) AUTHORS Mak,A., Smillie,L.B. and Barany,M. TITLE Specific phosphorylation at serine-283 of alpha tropomyosin from frog skeletal and rabbit skeletal and cardiac muscle JOURNAL Proc Natl Acad Sci U S A 75 (8), 3588-3592 (1978) PUBMED 278975 COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from AC079328.11. Summary: This gene is a member of the tropomyosin family of highly conserved, widely distributed actin-binding proteins involved in the contractile system of striated and smooth muscles and the cytoskeleton of non-muscle cells. Tropomyosin is composed of two alpha-helical chains arranged as a coiled-coil. It is polymerized end to end along the two grooves of actin filaments and provides stability to the filaments. The encoded protein is one type of alpha helical chain that forms the predominant tropomyosin of striated muscle, where it also functions in association with the troponin complex to regulate the calcium-dependent interaction of actin and myosin during muscle contraction. In smooth muscle and non-muscle cells, alternatively spliced transcript variants encoding a range of isoforms have been described. Mutations in this gene are associated with type 3 familial hypertrophic cardiomyopathy and dilated cardiomyopathy 1Y. [provided by RefSeq, Jun 2022]. 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 :: SRR1803614.358155.1, SRR1803611.392955.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2154665, SAMN03465402 [ECO:0000348] ##Evidence-Data-END## PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP 1-219 AC079328.11 141008-141226 220-353 AC079328.11 149504-149637 354-471 AC079328.11 152082-152199 472-542 AC079328.11 153388-153458 543-618 AC079328.11 154232-154307 619-681 AC079328.11 154734-154796 682-751 AC079328.11 155095-155164 752-941 AC079328.11 158415-158604 942-2987 AC079328.11 162389-164434 FEATURES Location/Qualifiers source 1..2987 /organism="Homo sapiens" /mol_type="transcribed RNA" /db_xref="taxon:9606" /chromosome="15" /map="15q22.2" gene 1..2987 /gene="TPM1" /gene_synonym="C15orf13; CMD1Y; CMH3; HEL-S-265; HTM-alpha; LVNC9; TMSA" /note="tropomyosin 1" /db_xref="GeneID:7168" /db_xref="HGNC:HGNC:12010" /db_xref="MIM:191010" misc_RNA 1..2987 /gene="TPM1" /gene_synonym="C15orf13; CMD1Y; CMH3; HEL-S-265; HTM-alpha; LVNC9; TMSA" /product="tropomyosin 1, transcript variant 22" /db_xref="GeneID:7168" /db_xref="HGNC:HGNC:12010" /db_xref="MIM:191010" exon 1..219 /gene="TPM1" /gene_synonym="C15orf13; CMD1Y; CMH3; HEL-S-265; HTM-alpha; LVNC9; TMSA" /inference="alignment:Splign:2.1.0" misc_feature 88..843 /gene="TPM1" /gene_synonym="C15orf13; CMD1Y; CMH3; HEL-S-265; HTM-alpha; LVNC9; TMSA" /inference="COORDINATES: ab initio prediction:ORF Finder" /note="primary ORF has stop codon >50 nucleotides from the terminal splice site; nonsense-mediated mRNA decay (NMD) candidate" /db_xref="GeneID:7168" exon 220..353 /gene="TPM1" /gene_synonym="C15orf13; CMD1Y; CMH3; HEL-S-265; HTM-alpha; LVNC9; TMSA" /inference="alignment:Splign:2.1.0" exon 354..471 /gene="TPM1" /gene_synonym="C15orf13; CMD1Y; CMH3; HEL-S-265; HTM-alpha; LVNC9; TMSA" /inference="alignment:Splign:2.1.0" exon 472..542 /gene="TPM1" /gene_synonym="C15orf13; CMD1Y; CMH3; HEL-S-265; HTM-alpha; LVNC9; TMSA" /inference="alignment:Splign:2.1.0" exon 543..618 /gene="TPM1" /gene_synonym="C15orf13; CMD1Y; CMH3; HEL-S-265; HTM-alpha; LVNC9; TMSA" /inference="alignment:Splign:2.1.0" exon 619..681 /gene="TPM1" /gene_synonym="C15orf13; CMD1Y; CMH3; HEL-S-265; HTM-alpha; LVNC9; TMSA" /inference="alignment:Splign:2.1.0" exon 682..751 /gene="TPM1" /gene_synonym="C15orf13; CMD1Y; CMH3; HEL-S-265; HTM-alpha; LVNC9; TMSA" /inference="alignment:Splign:2.1.0" exon 752..941 /gene="TPM1" /gene_synonym="C15orf13; CMD1Y; CMH3; HEL-S-265; HTM-alpha; LVNC9; TMSA" /inference="alignment:Splign:2.1.0" exon 942..2987 /gene="TPM1" /gene_synonym="C15orf13; CMD1Y; CMH3; HEL-S-265; HTM-alpha; LVNC9; TMSA" /inference="alignment:Splign:2.1.0" regulatory 2956..2961 /regulatory_class="polyA_signal_sequence" /gene="TPM1" /gene_synonym="C15orf13; CMD1Y; CMH3; HEL-S-265; HTM-alpha; LVNC9; TMSA" /note="hexamer: AATAAA" polyA_site 2987 /gene="TPM1" /gene_synonym="C15orf13; CMD1Y; CMH3; HEL-S-265; HTM-alpha; LVNC9; TMSA" /note="major polyA site" ORIGIN
agccaggacagccgcggcagccgggtccgcagggcagcagccggcctctcccactgcagccctcccgcccgcctaccgtccggcgcgatggcggggagtagctcgctggaggcggtgcgcaggaagatccggagcctgcaggagcaggcggacgccgctgaggagcgcgcgggcaccctgcagcgcgagctggaccacgagaggaagctgagggagaccgctgaagccgacgtagcttctctgaacagacgcatccagctggttgaggaagagttggatcgtgcccaggagcgtctggcaacagctttgcagaagctggaggaagctgagaaggcagcagatgagagtgagagaggcatgaaagtcattgagagtcgagcccaaaaagatgaagaaaaaatggaaattcaggagatccaactgaaagaggccaagcacattgctgaagatgccgaccgcaaatatgaagaggtggcccgtaagctggtcatcattgagagcgacctggaacgtgcagaggagcgggctgagctctcagaaggcaaatgtgccgagcttgaagaagaattgaaaactgtgacgaacaacttgaagtcactggaggctcaggctgagaagtactcgcagaaggaagacagatatgaggaagagatcaaggtcctttccgacaagctgaaggaggctgagactcgggctgagtttgcggagaggtcagtaactaaattggagaaaagcattgatgacttagaagataagtttctttgcttcacttctcccaagactccctcgtcgagctggatgtcccacctctctgagctctgcatttgtctattctccagctgaccctggttctctctcttagcatcctgccttagagccaggcacacactgtgctttctattgtacagaagctcttcgtttcagtgtcaaataaacactgtatcaactctaccagcaacttgagcaaaatcgccgcctcactaatgaactaaagctggccctgaatgaggattaaacttaagagtgaaaaaacttgggctgaattctaggcgtggagcccatgtgcagaaaatctaagactgtcctaccttcaactaatagagttgaaaacagttgctttctgcagaaatgcaaatgcaaggaattggctgaaaggctggccttgcctgcttgtttctctatatggctggaataattacgttctctttaatcacaaaacagcttttatggtagaatacttatatcaattcagcactgctccttgaaatagcaggtcctcttgtttgaactgataaataatgaggagcccccccaaaaaatgttttctatttcctgacagccatgagtcctactttaagtatgtatatatatatatatatgtgtgtgtgtgtgtgtgtgtatatattcctatcagatactcatattcctaacttctaaatatctggtatagtgtttgaaatatgattaaatgtacctatgcttgggcaaaatagcttttgaaaacaggaactcatgccagaagcccctggttgtctgaaaggtatgctttactcagtctaatggtgctgttggagtctggggagaatgtcatgctaataaatagaacactataaaaatattaagagaatgtcctaatgaagtgtgcatgaaacatgttgacaattttttatgagcaacagaaataaatcattttaaaagttctcagaaaacctatttatgtcatctttgcttttgtgagtttgtgttaccgcacaactcccagacttttaactgcctgtaccttggaaatgtctgctgttcgtaacttcttcagtttgtataacagtgctgcagctgtatttggtttttacctctccctgttcccacggcacaccgtcagtgaaccttcaccaaaccccacgtgcattttatcctcagtgaattgttggtggaggtgcacctgactgctctgtgagaatccgtgccatggctcctttgggtcaaagatgccctcccctccgtcttaggttcttgtctagaaatgagtaatgtcttacaagcatgcctagttctaatcatctcatcctgtgtttgtgattgatgtttgcctgcctaaatgtacaaaccaccattgtgtccaaagcacagctattcatgacttaattttctaatctcaccacagagaaagtggctcatgccaaagaagaaaaccttagtatgcatcagatgctggatcagactttactggagttaaacaacatgtgaaaacctccttagctgcgaccacattctttcgttttgttttgttttgtttttaaacacctgcttaccccttaaatgcaatttatttacttttaccactgtcacagaaacatccacaagataccagctaggtcagggggtggggaaaacacatacaaaaaggcaagcccatgtcagggcgatcctggttcaaatgtgccatttcccgggttgatgctgccacactttgtagagagtttagcaacacagtgtgcttagtcagcgtaggaatcctcactaaagcagaagaagttccattcaaagtgccaatgatagagtcaacaggaaggttaatgttggaaacacaatcaggtgtggattggtgctactttgaacaaaaggtccccctgtggtcttttgttcaacattgtacaatgtagaactctgtccaacactaatttattttgtcttgagttttactacaagatgagactatggatcccgcatgcctgaattcactaaagccaagggtctgtaagccacgctgctcttccgagacttccattcctttctgattggcacacgtgcagctcatgacaatctgtaggataacaatcagtgtggatttccactcttttcagtccttcatgttaaagatttagacaccacatacaactggtaaaggacgttttcttgagagttttaactatatgtaaacattgtataatgatatggaataaaatgcacattgtaggacattttctaaa
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If you use GGRNA in your work, please cite:
Naito Y, Bono H. (2012)
GGRNA: an ultrafast, transcript-oriented search engine for genes and transcripts.
Nucleic Acids Res., 40, W592-W596.
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