2024-04-25 23:17:28, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_003809 1407 bp mRNA linear PRI 16-JUN-2013 DEFINITION Homo sapiens tumor necrosis factor (ligand) superfamily, member 12 (TNFSF12), transcript variant 1, mRNA. ACCESSION NM_003809 VERSION NM_003809.2 GI:23510442 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 1407) AUTHORS Pellegrini,M., Willen,L., Perroud,M., Krushinskie,D., Strauch,K., Cuervo,H., Day,E.S., Schneider,P. and Zheng,T.S. TITLE Structure of the extracellular domains of human and Xenopus Fn14: implications in the evolution of TWEAK and Fn14 interactions JOURNAL FEBS J. 280 (8), 1818-1829 (2013) PUBMED 23438059 REMARK GeneRIF: TWEAK binds to hFn14 by surface plasmon resonance (View interaction) xeFn14 binds to TWEAK by enzyme linked immunosorbent assay REFERENCE 2 (bases 1 to 1407) AUTHORS Wang,H.Y., Ma,C.A., Zhao,Y., Fan,X., Zhou,Q., Edmonds,P., Uzel,G., Oliveira,J.B., Orange,J. and Jain,A. TITLE Antibody deficiency associated with an inherited autosomal dominant mutation in TWEAK JOURNAL Proc. Natl. Acad. Sci. U.S.A. 110 (13), 5127-5132 (2013) PUBMED 23493554 REMARK GeneRIF: data implicate TWEAK as a disease-susceptibility gene for a humoral immunodeficiency. REFERENCE 3 (bases 1 to 1407) AUTHORS Moreno,J.A., Sastre,C., Madrigal-Matute,J., Munoz-Garcia,B., Ortega,L., Burkly,L.C., Egido,J., Martin-Ventura,J.L. and Blanco-Colio,L.M. TITLE HMGB1 expression and secretion are increased via TWEAK-Fn14 interaction in atherosclerotic plaques and cultured monocytes JOURNAL Arterioscler. Thromb. Vasc. Biol. 33 (3), 612-620 (2013) PUBMED 23288170 REMARK GeneRIF: TWEAK/Fn14 can regulate expression and secretion of HMGB1 in monocytes/macrophages, participating in the inflammatory response associated with atherosclerotic plaque development. REFERENCE 4 (bases 1 to 1407) AUTHORS Llaurado,G., Gonzalez-Clemente,J.M., Maymo-Masip,E., Subias,D., Vendrell,J. and Chacon,M.R. TITLE Serum levels of TWEAK and scavenger receptor CD163 in type 1 diabetes mellitus: relationship with cardiovascular risk factors. a case-control study JOURNAL PLoS ONE 7 (8), E43919 (2012) PUBMED 22937125 REMARK GeneRIF: sTWEAK is decreased in type 1 diabetes mellitus patients compared with age and sex-matched healthy subjects REFERENCE 5 (bases 1 to 1407) AUTHORS Roos,C., Wicovsky,A., Muller,N., Salzmann,S., Rosenthal,T., Kalthoff,H., Trauzold,A., Seher,A., Henkler,F., Kneitz,C. and Wajant,H. TITLE Soluble and transmembrane TNF-like weak inducer of apoptosis differentially activate the classical and noncanonical NF-kappa B pathway JOURNAL J. Immunol. 185 (3), 1593-1605 (2010) PUBMED 20610643 REMARK GeneRIF: Membrane TWEAK is superior to soluble TWEAK with respect to activation of the classical NF-kappa B pathway, whereas both TWEAK variants are potent inducers of TNFR-associated factor-2 depletion, NF-kappaB-inducing kinase accumulation and p100 processing. REFERENCE 6 (bases 1 to 1407) AUTHORS Brown,S.A., Ghosh,A. and Winkles,J.A. TITLE Full-length, membrane-anchored TWEAK can function as a juxtacrine signaling molecule and activate the NF-kappaB pathway JOURNAL J. Biol. Chem. 285 (23), 17432-17441 (2010) PUBMED 20385556 REMARK GeneRIF: Full-length, membrane-anchored TWEAK can function as a juxtacrine signaling molecule and activate the NF-kappaB pathway REFERENCE 7 (bases 1 to 1407) AUTHORS Kaplan,M.J., Ray,D., Mo,R.R., Yung,R.L. and Richardson,B.C. TITLE TRAIL (Apo2 ligand) and TWEAK (Apo3 ligand) mediate CD4+ T cell killing of antigen-presenting macrophages JOURNAL J. Immunol. 164 (6), 2897-2904 (2000) PUBMED 10706675 REFERENCE 8 (bases 1 to 1407) AUTHORS Lynch,C.N., Wang,Y.C., Lund,J.K., Chen,Y.W., Leal,J.A. and Wiley,S.R. TITLE TWEAK induces angiogenesis and proliferation of endothelial cells JOURNAL J. Biol. Chem. 274 (13), 8455-8459 (1999) PUBMED 10085077 REFERENCE 9 (bases 1 to 1407) AUTHORS Marsters,S.A., Sheridan,J.P., Pitti,R.M., Brush,J., Goddard,A. and Ashkenazi,A. TITLE Identification of a ligand for the death-domain-containing receptor Apo3 JOURNAL Curr. Biol. 8 (9), 525-528 (1998) PUBMED 9560343 REFERENCE 10 (bases 1 to 1407) AUTHORS Chicheportiche,Y., Bourdon,P.R., Xu,H., Hsu,Y.M., Scott,H., Hession,C., Garcia,I. and Browning,J.L. TITLE TWEAK, a new secreted ligand in the tumor necrosis factor family that weakly induces apoptosis JOURNAL J. Biol. Chem. 272 (51), 32401-32410 (1997) PUBMED 9405449 COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from AI091441.1, BC104420.1, AF030099.1 and AF055872.1. On Oct 7, 2002 this sequence version replaced gi:4507596. Summary: The protein encoded by this gene is a cytokine that belongs to the tumor necrosis factor (TNF) ligand family. This protein is a ligand for the FN14/TWEAKR receptor. This cytokine has overlapping signaling functions with TNF, but displays a much wider tissue distribution. This cytokine, which exists in both membrane-bound and secreted forms, can induce apoptosis via multiple pathways of cell death in a cell type-specific manner. This cytokine is also found to promote proliferation and migration of endothelial cells, and thus acts as a regulator of angiogenesis. Alternative splicing results in multiple transcript variants. Some transcripts skip the last exon of this gene and continue into the second exon of the neighboring TNFSF13 gene; such read-through transcripts are contained in GeneID 407977, TNFSF12-TNFSF13. [provided by RefSeq, Oct 2010]. Transcript Variant: This variant (1) represents the shorter transcript but encodes the functional 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 :: AF055872.1, AF030099.1 [ECO:0000332] RNAseq introns :: single sample supports all introns ERS025081, ERS025082 [ECO:0000348] ##Evidence-Data-END## COMPLETENESS: complete on the 3' end. PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP 1-64 AI091441.1 168-231 65-1062 BC104420.1 1-998 1063-1384 AF030099.1 984-1305 1385-1407 AF055872.1 1346-1368 FEATURES Location/Qualifiers source 1..1407 /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /chromosome="17" /map="17p13" gene 1..1407 /gene="TNFSF12" /gene_synonym="APO3L; DR3LG; TWEAK" /note="tumor necrosis factor (ligand) superfamily, member 12" /db_xref="GeneID:8742" /db_xref="HGNC:11927" /db_xref="HPRD:04074" /db_xref="MIM:602695" exon 1..255 /gene="TNFSF12" /gene_synonym="APO3L; DR3LG; TWEAK" /inference="alignment:Splign:1.39.8" variation 9 /gene="TNFSF12" /gene_synonym="APO3L; DR3LG; TWEAK" /replace="a" /replace="g" /db_xref="dbSNP:8074608" STS 65..1062 /gene="TNFSF12" /gene_synonym="APO3L; DR3LG; TWEAK" /db_xref="UniSTS:484141" variation 69 /gene="TNFSF12" /gene_synonym="APO3L; DR3LG; TWEAK" /replace="a" /replace="g" /db_xref="dbSNP:369618628" CDS 97..846 /gene="TNFSF12" /gene_synonym="APO3L; DR3LG; TWEAK" /note="proprotein is encoded by transcript variant 1; APO3/DR3 ligand; TNF-related WEAK inducer of apoptosis; APO3 ligand" /codon_start=1 /product="tumor necrosis factor ligand superfamily member 12 proprotein" /protein_id="NP_003800.1" /db_xref="GI:4507597" /db_xref="CCDS:CCDS11109.1" /db_xref="GeneID:8742" /db_xref="HGNC:11927" /db_xref="HPRD:04074" /db_xref="MIM:602695" /translation="
MAARRSQRRRGRRGEPGTALLVPLALGLGLALACLGLLLAVVSLGSRASLSAQEPAQEELVAEEDQDPSELNPQTEESQDPAPFLNRLVRPRRSAPKGRKTRARRAIAAHYEVHPRPGQDGAQAGVDGTVSGWEEARINSSSPLRYNRQIGEFIVTRAGLYYLYCQVHFDEGKAVYLKLDLLVDGVLALRCLEEFSATAASSLGPQLRLCQVSGLLALRPGSSLRIRTLPWAHLKAAPFLTYFGLFQVH
" proprotein 97..843 /gene="TNFSF12" /gene_synonym="APO3L; DR3LG; TWEAK" /product="tumor necrosis factor ligand superfamily member 12, membrane form" misc_feature 160..222 /gene="TNFSF12" /gene_synonym="APO3L; DR3LG; TWEAK" /inference="non-experimental evidence, no additional details recorded" /note="propagated from UniProtKB/Swiss-Prot (O43508.1); transmembrane region" misc_feature 373..378 /gene="TNFSF12" /gene_synonym="APO3L; DR3LG; TWEAK" /experiment="experimental evidence, no additional details recorded" /note="Cleavage; propagated from UniProtKB/Swiss-Prot (O43508.1); cleavage site" mat_peptide 376..843 /gene="TNFSF12" /gene_synonym="APO3L; DR3LG; TWEAK" /product="tumor necrosis factor ligand superfamily member 12, secreted form" misc_feature 415..834 /gene="TNFSF12" /gene_synonym="APO3L; DR3LG; TWEAK" /note="Tumor Necrosis Factor; TNF superfamily members include the cytokines: TNF (TNF-alpha), LT (lymphotoxin-alpha, TNF-beta), CD40 ligand, Apo2L (TRAIL), Fas ligand, and osteoprotegerin (OPG) ligand. These proteins generally have an intracellular N-terminal...; Region: TNF; cd00184" /db_xref="CDD:29146" misc_feature order(424..426,580..582,586..588,727..729,742..744, 820..822,832..834) /gene="TNFSF12" /gene_synonym="APO3L; DR3LG; TWEAK" /note="trimer interface [polypeptide binding]; other site" /db_xref="CDD:29146" misc_feature order(496..501,514..516,622..624,643..645,658..660) /gene="TNFSF12" /gene_synonym="APO3L; DR3LG; TWEAK" /note="receptor binding sites; other site" /db_xref="CDD:29146" misc_feature 763..765 /gene="TNFSF12" /gene_synonym="APO3L; DR3LG; TWEAK" /experiment="experimental evidence, no additional details recorded" /note="phosphorylation site" variation 163 /gene="TNFSF12" /gene_synonym="APO3L; DR3LG; TWEAK" /replace="c" /replace="t" /db_xref="dbSNP:112774414" variation 168 /gene="TNFSF12" /gene_synonym="APO3L; DR3LG; TWEAK" /replace="c" /replace="t" /db_xref="dbSNP:77711855" exon 256..303 /gene="TNFSF12" /gene_synonym="APO3L; DR3LG; TWEAK" /inference="alignment:Splign:1.39.8" exon 304..379 /gene="TNFSF12" /gene_synonym="APO3L; DR3LG; TWEAK" /inference="alignment:Splign:1.39.8" variation 341 /gene="TNFSF12" /gene_synonym="APO3L; DR3LG; TWEAK" /replace="c" /replace="t" /db_xref="dbSNP:370085069" variation 372 /gene="TNFSF12" /gene_synonym="APO3L; DR3LG; TWEAK" /replace="a" /replace="c" /db_xref="dbSNP:62059804" exon 380..433 /gene="TNFSF12" /gene_synonym="APO3L; DR3LG; TWEAK" /inference="alignment:Splign:1.39.8" variation 400 /gene="TNFSF12" /gene_synonym="APO3L; DR3LG; TWEAK" /replace="c" /replace="t" /db_xref="dbSNP:150816164" variation 413 /gene="TNFSF12" /gene_synonym="APO3L; DR3LG; TWEAK" /replace="c" /replace="t" /db_xref="dbSNP:369851985" variation 417 /gene="TNFSF12" /gene_synonym="APO3L; DR3LG; TWEAK" /replace="c" /replace="t" /db_xref="dbSNP:139642600" exon 434..469 /gene="TNFSF12" /gene_synonym="APO3L; DR3LG; TWEAK" /inference="alignment:Splign:1.39.8" variation 449 /gene="TNFSF12" /gene_synonym="APO3L; DR3LG; TWEAK" /replace="a" /replace="g" /db_xref="dbSNP:144468031" variation 453 /gene="TNFSF12" /gene_synonym="APO3L; DR3LG; TWEAK" /replace="a" /replace="g" /db_xref="dbSNP:147826685" variation 456 /gene="TNFSF12" /gene_synonym="APO3L; DR3LG; TWEAK" /replace="c" /replace="t" /db_xref="dbSNP:141377098" variation 457 /gene="TNFSF12" /gene_synonym="APO3L; DR3LG; TWEAK" /replace="a" /replace="g" /db_xref="dbSNP:200558366" variation 461 /gene="TNFSF12" /gene_synonym="APO3L; DR3LG; TWEAK" /replace="c" /replace="t" /db_xref="dbSNP:145233196" exon 470..594 /gene="TNFSF12" /gene_synonym="APO3L; DR3LG; TWEAK" /inference="alignment:Splign:1.39.8" variation 497 /gene="TNFSF12" /gene_synonym="APO3L; DR3LG; TWEAK" /replace="a" /replace="g" /db_xref="dbSNP:201582547" variation 523 /gene="TNFSF12" /gene_synonym="APO3L; DR3LG; TWEAK" /replace="a" /replace="c" /db_xref="dbSNP:199718449" variation 536 /gene="TNFSF12" /gene_synonym="APO3L; DR3LG; TWEAK" /replace="a" /replace="t" /db_xref="dbSNP:371762842" variation 539 /gene="TNFSF12" /gene_synonym="APO3L; DR3LG; TWEAK" /replace="a" /replace="g" /db_xref="dbSNP:200059075" variation 546 /gene="TNFSF12" /gene_synonym="APO3L; DR3LG; TWEAK" /replace="c" /replace="t" /db_xref="dbSNP:147597489" variation 566 /gene="TNFSF12" /gene_synonym="APO3L; DR3LG; TWEAK" /replace="a" /replace="g" /db_xref="dbSNP:371341735" exon 595..1386 /gene="TNFSF12" /gene_synonym="APO3L; DR3LG; TWEAK" /inference="alignment:Splign:1.39.8" variation 595 /gene="TNFSF12" /gene_synonym="APO3L; DR3LG; TWEAK" /replace="" /replace="g" /db_xref="dbSNP:35844756" variation 650 /gene="TNFSF12" /gene_synonym="APO3L; DR3LG; TWEAK" /replace="a" /replace="g" /db_xref="dbSNP:149050050" variation 692..693 /gene="TNFSF12" /gene_synonym="APO3L; DR3LG; TWEAK" /replace="" /replace="a" /db_xref="dbSNP:35826004" variation 693 /gene="TNFSF12" /gene_synonym="APO3L; DR3LG; TWEAK" /replace="a" /replace="g" /db_xref="dbSNP:143039184" variation 696 /gene="TNFSF12" /gene_synonym="APO3L; DR3LG; TWEAK" /replace="c" /replace="g" /db_xref="dbSNP:3803798" variation 705 /gene="TNFSF12" /gene_synonym="APO3L; DR3LG; TWEAK" /replace="c" /replace="t" /db_xref="dbSNP:140608168" variation 719 /gene="TNFSF12" /gene_synonym="APO3L; DR3LG; TWEAK" /replace="a" /replace="g" /db_xref="dbSNP:376560567" variation 720 /gene="TNFSF12" /gene_synonym="APO3L; DR3LG; TWEAK" /replace="a" /replace="c" /db_xref="dbSNP:61761339" variation 738 /gene="TNFSF12" /gene_synonym="APO3L; DR3LG; TWEAK" /replace="g" /replace="t" /db_xref="dbSNP:4968189" variation 752 /gene="TNFSF12" /gene_synonym="APO3L; DR3LG; TWEAK" /replace="a" /replace="g" /db_xref="dbSNP:3803799" variation 802 /gene="TNFSF12" /gene_synonym="APO3L; DR3LG; TWEAK" /replace="c" /replace="g" /db_xref="dbSNP:376444597" variation 825 /gene="TNFSF12" /gene_synonym="APO3L; DR3LG; TWEAK" /replace="c" /replace="t" /db_xref="dbSNP:200770110" variation 864 /gene="TNFSF12" /gene_synonym="APO3L; DR3LG; TWEAK" /replace="a" /replace="g" /db_xref="dbSNP:1128963" variation 866 /gene="TNFSF12" /gene_synonym="APO3L; DR3LG; TWEAK" /replace="a" /replace="g" /db_xref="dbSNP:374296703" variation 922 /gene="TNFSF12" /gene_synonym="APO3L; DR3LG; TWEAK" /replace="a" /replace="g" /db_xref="dbSNP:113147008" variation 937 /gene="TNFSF12" /gene_synonym="APO3L; DR3LG; TWEAK" /replace="a" /replace="g" /db_xref="dbSNP:28362665" variation 1085 /gene="TNFSF12" /gene_synonym="APO3L; DR3LG; TWEAK" /replace="c" /replace="g" /db_xref="dbSNP:75016989" variation 1136 /gene="TNFSF12" /gene_synonym="APO3L; DR3LG; TWEAK" /replace="g" /replace="t" /db_xref="dbSNP:9907657" STS 1171..1305 /gene="TNFSF12" /gene_synonym="APO3L; DR3LG; TWEAK" /standard_name="RH98958" /db_xref="UniSTS:85338" variation 1212 /gene="TNFSF12" /gene_synonym="APO3L; DR3LG; TWEAK" /replace="c" /replace="t" /db_xref="dbSNP:112438437" variation 1293 /gene="TNFSF12" /gene_synonym="APO3L; DR3LG; TWEAK" /replace="c" /replace="t" /db_xref="dbSNP:28362666" polyA_signal 1367..1372 /gene="TNFSF12" /gene_synonym="APO3L; DR3LG; TWEAK" polyA_site 1377 /gene="TNFSF12" /gene_synonym="APO3L; DR3LG; TWEAK" polyA_site 1386 /gene="TNFSF12" /gene_synonym="APO3L; DR3LG; TWEAK" ORIGIN
ctctccccggcccgatccgcccgccggctccccctcccccgatccctcgggtcccgggatgggggggcggtgaggcaggcacagccccccgcccccatggccgcccgtcggagccagaggcggagggggcgccggggggagccgggcaccgccctgctggtcccgctcgcgctgggcctgggcctggcgctggcctgcctcggcctcctgctggccgtggtcagtttggggagccgggcatcgctgtccgcccaggagcctgcccaggaggagctggtggcagaggaggaccaggacccgtcggaactgaatccccagacagaagaaagccaggatcctgcgcctttcctgaaccgactagttcggcctcgcagaagtgcacctaaaggccggaaaacacgggctcgaagagcgatcgcagcccattatgaagttcatccacgacctggacaggacggagcgcaggcaggtgtggacgggacagtgagtggctgggaggaagccagaatcaacagctccagccctctgcgctacaaccgccagatcggggagtttatagtcacccgggctgggctctactacctgtactgtcaggtgcactttgatgaggggaaggctgtctacctgaagctggacttgctggtggatggtgtgctggccctgcgctgcctggaggaattctcagccactgcggcgagttccctcgggccccagctccgcctctgccaggtgtctgggctgttggccctgcggccagggtcctccctgcggatccgcaccctcccctgggcccatctcaaggctgcccccttcctcacctacttcggactcttccaggttcactgaggggccctggtctccccgcagtcgtcccaggctgccggctcccctcgacagctctctgggcacccggtcccctctgccccaccctcagccgctctttgctccagacctgcccctccctctagaggctgcctgggcctgttcacgtgttttccatcccacataaatacagtattcccactcttatcttacaactcccccaccgcccactctccacctcactagctccccaatccctgaccctttgaggcccccagtgatctcgactcccccctggccacagacccccagggcattgtgttcactgtactctgtgggcaaggatgggtccagaagaccccacttcaggcactaagaggggctggacctggcggcaggaagccaaagagactgggcctaggccaggagttcccaaatgtgaggggcgagaaacaagacaagctcctcccttgagaattccctgtggatttttaaaacagatattatttttattattattgtgacaaaatgttgataaatggatattaaatagaataagtcataaaaaaaaaaaaaaaaaaaaaa
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ANNOTATIONS from NCBI Entrez Gene (20130726): GeneID:8742 -> Molecular function: GO:0005102 [receptor binding] evidence: TAS GeneID:8742 -> Molecular function: GO:0005125 [cytokine activity] evidence: IEA GeneID:8742 -> Molecular function: GO:0005125 [cytokine activity] evidence: TAS GeneID:8742 -> Molecular function: GO:0005164 [tumor necrosis factor receptor binding] evidence: IEA GeneID:8742 -> Molecular function: GO:0005515 [protein binding] evidence: IPI GeneID:8742 -> Biological process: GO:0001525 [angiogenesis] evidence: IEA GeneID:8742 -> Biological process: GO:0001938 [positive regulation of endothelial cell proliferation] evidence: TAS GeneID:8742 -> Biological process: GO:0006915 [apoptotic process] evidence: IEA GeneID:8742 -> Biological process: GO:0006917 [induction of apoptosis] evidence: TAS GeneID:8742 -> Biological process: GO:0006955 [immune response] evidence: IEA GeneID:8742 -> Biological process: GO:0007165 [signal transduction] evidence: TAS GeneID:8742 -> Biological process: GO:0030154 [cell differentiation] evidence: IEA GeneID:8742 -> Biological process: GO:0043542 [endothelial cell migration] evidence: TAS GeneID:8742 -> Biological process: GO:0045766 [positive regulation of angiogenesis] evidence: TAS GeneID:8742 -> Biological process: GO:0097190 [apoptotic signaling pathway] evidence: TAS GeneID:8742 -> Biological process: GO:2001238 [positive regulation of extrinsic apoptotic signaling pathway] evidence: IDA GeneID:8742 -> Cellular component: GO:0005615 [extracellular space] evidence: IEA GeneID:8742 -> Cellular component: GO:0005615 [extracellular space] evidence: TAS GeneID:8742 -> Cellular component: GO:0005887 [integral to plasma membrane] evidence: TAS GeneID:8742 -> Cellular component: GO:0048471 [perinuclear region of cytoplasm] evidence: IDA
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