2024-03-29 18:42:03, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_139026 4705 bp mRNA linear PRI 18-JUL-2013 DEFINITION Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 13 (ADAMTS13), transcript variant 3, mRNA. ACCESSION NM_139026 VERSION NM_139026.4 GI:525313726 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 4705) AUTHORS Bhattacharyya S, Kumar P, Tsuchiya M, Bhattacharyya A and Biswas R. TITLE Regulation of miR-155 biogenesis in cystic fibrosis lung epithelial cells: antagonistic role of two mRNA-destabilizing proteins, KSRP and TTP JOURNAL Biochem. Biophys. Res. Commun. 433 (4), 484-488 (2013) PUBMED 23524258 REMARK GeneRIF: KSRP and TTP have an antagonistic role in miR-155 biogenesis. REFERENCE 2 (bases 1 to 4705) AUTHORS Plaimauer B, Zimmermann K, Volkel D, Antoine G, Kerschbaumer R, Jenab P, Furlan M, Gerritsen H, Lammle B, Schwarz HP and Scheiflinger F. TITLE Cloning, expression, and functional characterization of the von Willebrand factor-cleaving protease (ADAMTS13) JOURNAL Blood 100 (10), 3626-3632 (2002) PUBMED 12393399 REMARK GeneRIF: Cloning, expression, and functional characterization of the von Willebrand factor-cleaving protease (ADAMTS13). REFERENCE 3 (bases 1 to 4705) AUTHORS Cal S, Obaya AJ, Llamazares M, Garabaya C, Quesada V and Lopez-Otin C. TITLE Cloning, expression analysis, and structural characterization of seven novel human ADAMTSs, a family of metalloproteinases with disintegrin and thrombospondin-1 domains JOURNAL Gene 283 (1-2), 49-62 (2002) PUBMED 11867212 REFERENCE 4 (bases 1 to 4705) AUTHORS Fujimura Y, Matsumoto M, Yagi H, Yoshioka A, Matsui T and Titani K. TITLE Von Willebrand factor-cleaving protease and Upshaw-Schulman syndrome JOURNAL Int. J. Hematol. 75 (1), 25-34 (2002) PUBMED 11843286 REMARK GeneRIF: VWF-CPis composed of a single polypeptide with a molecular mass of approx. 190 kD,and cDNA cloning indicated it is uniquely produced in the liver. Its gene is on chromosome 9q34. Review article REFERENCE 5 (bases 1 to 4705) AUTHORS Zheng X, Chung D, Takayama TK, Majerus EM, Sadler JE and Fujikawa K. TITLE Structure of von Willebrand factor-cleaving protease (ADAMTS13), a metalloprotease involved in thrombotic thrombocytopenic purpura JOURNAL J. Biol. Chem. 276 (44), 41059-41063 (2001) PUBMED 11557746 REFERENCE 6 (bases 1 to 4705) AUTHORS Levy GG, Nichols WC, Lian EC, Foroud T, McClintick JN, McGee BM, Yang AY, Siemieniak DR, Stark KR, Gruppo R, Sarode R, Shurin SB, Chandrasekaran V, Stabler SP, Sabio H, Bouhassira EE, Upshaw JD Jr, Ginsburg D and Tsai HM. TITLE Mutations in a member of the ADAMTS gene family cause thrombotic thrombocytopenic purpura JOURNAL Nature 413 (6855), 488-494 (2001) PUBMED 11586351 REMARK GeneRIF: mutation of gene causes thrombotic thrombocytopenic purpura REFERENCE 7 (bases 1 to 4705) AUTHORS Soejima K, Mimura N, Hirashima M, Maeda H, Hamamoto T, Nakagaki T and Nozaki C. TITLE A novel human metalloprotease synthesized in the liver and secreted into the blood: possibly, the von Willebrand factor-cleaving protease? JOURNAL J. Biochem. 130 (4), 475-480 (2001) PUBMED 11574066 REMARK Erratum:[J Biochem (Tokyo) 2001 Nov;130(5):719] REFERENCE 8 (bases 1 to 4705) AUTHORS Fujikawa K, Suzuki H, McMullen B and Chung D. TITLE Purification of human von Willebrand factor-cleaving protease and its identification as a new member of the metalloproteinase family JOURNAL Blood 98 (6), 1662-1666 (2001) PUBMED 11535495 REFERENCE 9 (bases 1 to 4705) AUTHORS Gerritsen HE, Robles R, Lammle B and Furlan M. TITLE Partial amino acid sequence of purified von Willebrand factor-cleaving protease JOURNAL Blood 98 (6), 1654-1661 (2001) PUBMED 11535494 REFERENCE 10 (bases 1 to 4705) AUTHORS Furlan M, Robles R and Lammle B. TITLE Partial purification and characterization of a protease from human plasma cleaving von Willebrand factor to fragments produced by in vivo proteolysis JOURNAL Blood 87 (10), 4223-4234 (1996) PUBMED 8639781 COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from AB069698.2, AJ305314.1, AF414401.1 and AV655072.1. On Jul 18, 2013 this sequence version replaced gi:190881476. Summary: This gene encodes a member of a family of proteins containing several distinct regions, including a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. The enzyme encoded by this gene specifically cleaves von Willebrand Factor (vWF). Defects in this gene are associated with thrombotic thrombocytopenic purpura. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]. Transcript Variant: This variant (3) uses alternate in-frame splice sites at two exons, compared to variant 1. The encoded isoform (3) is shorter than 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 :: AJ305314.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support ERS025082, ERS025083 [ECO:0000350] ##Evidence-Data-END## COMPLETENESS: full length. PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP 1-864 AB069698.2 1-864 865-2066 AJ305314.1 541-1742 2067-2630 AB069698.2 2160-2723 2631-3751 AF414401.1 2341-3461 3752-4672 AF414401.1 3630-4550 4673-4705 AV655072.1 516-548 FEATURES Location/Qualifiers source 1..4705 /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /chromosome="9" /map="9q34" gene 1..4705 /gene="ADAMTS13" /gene_synonym="ADAM-TS13; ADAMTS-13; C9orf8; vWF-CP; VWFCP" /note="ADAM metallopeptidase with thrombospondin type 1 motif, 13" /db_xref="GeneID:11093" /db_xref="HGNC:1366" /db_xref="HPRD:04994" /db_xref="MIM:604134" misc_feature 352..354 /gene="ADAMTS13" /gene_synonym="ADAM-TS13; ADAMTS-13; C9orf8; vWF-CP; VWFCP" /note="upstream in-frame stop codon" misc_feature 365 /gene="ADAMTS13" /gene_synonym="ADAM-TS13; ADAMTS-13; C9orf8; vWF-CP; VWFCP" /note="transcription initiation site determined in PMID:12393399" CDS 445..4467 /gene="ADAMTS13" /gene_synonym="ADAM-TS13; ADAMTS-13; C9orf8; vWF-CP; VWFCP" /EC_number="3.4.24.87" /note="isoform 3 preproprotein is encoded by transcript variant 3; von Willebrand factor-cleaving protease; a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 13; a disintegrin and metalloproteinase with thrombospondin motifs 13; vWF-cleaving protease" /codon_start=1 /product="A disintegrin and metalloproteinase with thrombospondin motifs 13 isoform 3 preproprotein" /protein_id="NP_620595.1" /db_xref="GI:21265043" /db_xref="CCDS:CCDS6971.1" /db_xref="GeneID:11093" /db_xref="HGNC:1366" /db_xref="HPRD:04994" /db_xref="MIM:604134" /translation="
MHQRHPRARCPPLCVAGILACGFLLGCWGPSHFQQSCLQALEPQAVSSYLSPGAPLKGRPPSPGFQRQRQRQRRAAGGILHLELLVAVGPDVFQAHQEDTERYVLTNLNIGAELLRDPSLGAQFRVHLVKMVILTEPEGAPNITANLTSSLLSVCGWSQTINPEDDTDPGHADLVLYITRFDLELPDGNRQVRGVTQLGGACSPTWSCLITEDTGFDLGVTIAHEIGHSFGLEHDGAPGSGCGPSGHVMASDGAAPRAGLAWSPCSRRQLLSLLSANEQCRVAFGPKAVACTFAREHLDMCQALSCHTDPLDQSSCSRLLVPLLDGTECGVEKWCSKGRCRSLVELTPIAAVHGRWSSWGPRSPCSRSCGGGVVTRRRQCNNPRPAFGGRACVGADLQAEMCNTQACEKTQLEFMSQQCARTDGQPLRSSPGGASFYHWGAAVPHSQGDALCRHMCRAIGESFIMKRGDSFLDGTRCMPSGPREDGTLSLCVSGSCRTFGCDGRMDSQQVWDRCQVCGGDNSTCSPRKGSFTAGRAREYVTFLTVTPNLTSVYIANHRPLFTHLAVRIGGRYVVAGKMSISPNTTYPSLLEDGRVEYRVALTEDRLPRLEEIRIWGPLQEDADIQVYRRYGEEYGNLTRPDITFTYFQPKPRQAWVWAAVRGPCSVSCGAGLRWVNYSCLDQARKELVETVQCQGSQQPPAWPEACVLEPCPPYWAVGDFGPCSASCGGGLRERPVRCVEAQGSLLKTLPPARCRAGAQQPAVALETCNPQPCPARWEVSEPSSCTSAGGAGLALENETCVPGADGLEAPVTEGPGSVDEKLPAPEPCVGMSCPPGWGHLDATSAGEKAPSPWGSIRTGAQAAHVWTPAAGSCSVSCGRGLMELRFLCMDSALRVPVQEELCGLASKPGSRREVCQAVPCPARWQYKLAACSVSCGRGVVRRILYCARAHGEDDGEEILLDTQCQGLPRPEPQEACSLEPCPPRWKVMSLGPCSASCGLGTARRSVACVQLDQGQDVEVDEAACAALVRPEASVPCLIADCTYRWHVGTWMECSVSCGDGIQRRRDTCLGPQAQAPVPADFCQHLPKPVTVRGCWAGPCVGQGACGRQHLEPTGTIDMRGPGQADCAVAIGRPLGEVVTLRVLESSLNCSAGDMLLLWGRLTWRKMCRKLLDMTFSSKTNTLVVRQRCGRPGGGVLLRYGSQLAPETFYRECDMQLFGPWGEIVSPSLSPATSNAGGCRLFINVAPHARIAIHALATNMGAGTEGANASYILIRDTHSLRTTAFHGQQVLYWESESSQAEMEFSEGFLKAQASLRGQYWTLQSWVPEMQDPQSWKGKEGT
" mat_peptide 667..4464 /gene="ADAMTS13" /gene_synonym="ADAM-TS13; ADAMTS-13; C9orf8; vWF-CP; VWFCP" /product="A disintegrin and metalloproteinase with thrombospondin motifs 13 isoform 3" misc_feature 682..1275 /gene="ADAMTS13" /gene_synonym="ADAM-TS13; ADAMTS-13; C9orf8; vWF-CP; VWFCP" /note="Zinc-dependent metalloprotease, ADAMTS_like subgroup. ADAMs (A Disintegrin And Metalloprotease) are glycoproteins, which play roles in cell signaling, cell fusion, and cell-cell interactions. This particular subfamily represents domain architectures that...; Region: ZnMc_ADAMTS_like; cd04273" /db_xref="CDD:58574" misc_feature order(1114..1119,1126..1128,1144..1146) /gene="ADAMTS13" /gene_synonym="ADAM-TS13; ADAMTS-13; C9orf8; vWF-CP; VWFCP" /note="active site" /db_xref="CDD:58574" misc_feature 1510..1668 /gene="ADAMTS13" /gene_synonym="ADAM-TS13; ADAMTS-13; C9orf8; vWF-CP; VWFCP" /note="Thrombospondin type 1 repeats; Region: TSP1; smart00209" /db_xref="CDD:197574" polyA_signal 4651..4656 /gene="ADAMTS13" /gene_synonym="ADAM-TS13; ADAMTS-13; C9orf8; vWF-CP; VWFCP" polyA_signal 4655..4660 /gene="ADAMTS13" /gene_synonym="ADAM-TS13; ADAMTS-13; C9orf8; vWF-CP; VWFCP" polyA_site 4689 /gene="ADAMTS13" /gene_synonym="ADAM-TS13; ADAMTS-13; C9orf8; vWF-CP; VWFCP" ORIGIN
aaccacgatgtctttggcacagcctctcatctgtcagatgggagcggggaccccggagagggagtcagccgaggtcctggcattccttgtgaacccccgtctgtgggtttctggtccagtgtcccttctccagattagatggcttaggcctcctctaagggggtgggcgtgcacatccggagagctgtctggtgtgcaggactgggctgcaggttaccctgaactgcaaccatcttagagcaaggcccagcttgcagcaggaggagctgcaggccgcccaccctagccacggcccctgccctggcaggaagcttccaagagtaaacactgcctaatcgtcccgcccagtagtgagcaggcctgtcccattccatactgaccagattcccagtcaccaaggccccctctcactccgctccactcctcgggctggctctcctgaggatgcaccagcgtcacccccgggcaagatgccctcccctctgtgtggccggaatccttgcctgtggctttctcctgggctgctggggaccctcccatttccagcagagttgtcttcaggctttggagccacaggccgtgtcttcttacttgagccctggtgctcccttaaaaggccgccctccttcccctggcttccagaggcagaggcagaggcagaggcgggctgcaggcggcatcctacacctggagctgctggtggccgtgggccccgatgtcttccaggctcaccaggaggacacagagcgctatgtgctcaccaacctcaacatcggggcagaactgcttcgggacccgtccctgggggctcagtttcgggtgcacctggtgaagatggtcattctgacagagcctgagggtgctccaaatatcacagccaacctcacctcgtccctgctgagcgtctgtgggtggagccagaccatcaaccctgaggacgacacggatcctggccatgctgacctggtcctctatatcactaggtttgacctggagttgcctgatggtaaccggcaggtgcggggcgtcacccagctgggcggtgcctgctccccaacctggagctgcctcattaccgaggacactggcttcgacctgggagtcaccattgcccatgagattgggcacagcttcggcctggagcacgacggcgcgcccggcagcggctgcggccccagcggacacgtgatggcttcggacggcgccgcgccccgcgccggcctcgcctggtccccctgcagccgccggcagctgctgagcctgctcagcgccaacgagcagtgccgcgtggccttcggccccaaggctgtcgcctgcaccttcgccagggagcacctggatatgtgccaggccctctcctgccacacagacccgctggaccaaagcagctgcagccgcctcctcgttcctctcctggatgggacagaatgtggcgtggagaagtggtgctccaagggtcgctgccgctccctggtggagctgacccccatagcagcagtgcatgggcgctggtctagctggggtccccgaagtccttgctcccgctcctgcggaggaggtgtggtcaccaggaggcggcagtgcaacaaccccagacctgcctttggggggcgtgcatgtgttggtgctgacctccaggccgagatgtgcaacactcaggcctgcgagaagacccagctggagttcatgtcgcaacagtgcgccaggaccgacggccagccgctgcgctcctcccctggcggcgcctccttctaccactggggtgctgctgtaccacacagccaaggggatgctctgtgcagacacatgtgccgggccattggcgagagcttcatcatgaagcgtggagacagcttcctcgatgggacccggtgtatgccaagtggcccccgggaggacgggaccctgagcctgtgtgtgtcgggcagctgcaggacatttggctgtgatggtaggatggactcccagcaggtatgggacaggtgccaggtgtgtggtggggacaacagcacgtgcagcccacggaagggctctttcacagctggcagagcgagagaatatgtcacgtttctgacagttacccccaacctgaccagtgtctacattgccaaccacaggcctctcttcacacacttggcggtgaggatcggagggcgctatgtcgtggctgggaagatgagcatctcccctaacaccacctacccctccctcctggaggatggtcgtgtcgagtacagagtggccctcaccgaggaccggctgccccgcctggaggagatccgcatctggggacccctccaggaagatgctgacatccaggtttacaggcggtatggcgaggagtatggcaacctcacccgcccagacatcaccttcacctacttccagcctaagccacggcaggcctgggtgtgggccgctgtgcgtgggccctgctcggtgagctgtggggcagggctgcgctgggtaaactacagctgcctggaccaggccaggaaggagttggtggagactgtccagtgccaagggagccagcagccaccagcgtggccagaggcctgcgtgctcgaaccctgccctccctactgggcggtgggagacttcggcccatgcagcgcctcctgtgggggtggcctgcgggagcggccagtgcgctgcgtggaggcccagggcagcctcctgaagacattgcccccagcccggtgcagagcaggggcccagcagccagctgtggcgctggaaacctgcaacccccagccctgccctgccaggtgggaggtgtcagagcccagctcatgcacatcagctggtggagcaggcctggccttggagaacgagacctgtgtgccaggggcagatggcctggaggctccagtgactgaggggcctggctccgtagatgagaagctgcctgcccctgagccctgtgtcgggatgtcatgtcctccaggctggggccatctggatgccacctctgcaggggagaaggctccctccccatggggcagcatcaggacgggggctcaagctgcacacgtgtggacccctgcggcagggtcgtgctccgtctcctgcgggcgaggtctgatggagctgcgtttcctgtgcatggactctgccctcagggtgcctgtccaggaagagctgtgtggcctggcaagcaagcctgggagccggcgggaggtctgccaggctgtcccgtgccctgctcggtggcagtacaagctggcggcctgcagcgtgagctgtgggagaggggtcgtgcggaggatcctgtattgtgcccgggcccatggggaggacgatggtgaggagatcctgttggacacccagtgccaggggctgcctcgcccggaaccccaggaggcctgcagcctggagccctgcccacctaggtggaaagtcatgtcccttggcccatgttcggccagctgtggccttggcactgctagacgctcggtggcctgtgtgcagctcgaccaaggccaggacgtggaggtggacgaggcggcctgtgcggcgctggtgcggcccgaggccagtgtcccctgtctcattgccgactgcacctaccgctggcatgttggcacctggatggagtgctctgtttcctgtggggatggcatccagcgccggcgtgacacctgcctcggaccccaggcccaggcgcctgtgccagctgatttctgccagcacttgcccaagccggtgactgtgcgtggctgctgggctgggccctgtgtgggacagggtgcctgtggcaggcagcaccttgagccaacaggaaccattgacatgcgaggcccagggcaggcagactgtgcagtggccattgggcggcccctcggggaggtggtgaccctccgcgtccttgagagttctctcaactgcagtgcgggggacatgttgctgctttggggccggctcacctggaggaagatgtgcaggaagctgttggacatgactttcagctccaagaccaacacgctggtggtgaggcagcgctgcgggcggccaggaggtggggtgctgctgcggtatgggagccagcttgctcctgaaaccttctacagagaatgtgacatgcagctctttgggccctggggtgaaatcgtgagcccctcgctgagtccagccacgagtaatgcagggggctgccggctcttcattaatgtggctccgcacgcacggattgccatccatgccctggccaccaacatgggcgctgggaccgagggagccaatgccagctacatcttgatccgggacacccacagcttgaggaccacagcgttccatgggcagcaggtgctctactgggagtcagagagcagccaggctgagatggagttcagcgagggcttcctgaaggctcaggccagcctgcggggccagtactggaccctccaatcatgggtaccggagatgcaggaccctcagtcctggaagggaaaggaaggaacctgagggtcattgaacatttgttccgtgtctggccagccctggagggttgacccctggtctcagtgctttccaattcgaactttttccaatcttaggtatctactttagagtcttctccaatgtccaaaaggctagggggttggaggtggggactctggaaaagcagcccccatttcctcgggtaccaataaataaaacatgcaggctgaccggcgtttttttcttaaaaaaaaaaaaaaaa
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ANNOTATIONS from NCBI Entrez Gene (20130726): GeneID:11093 -> Molecular function: GO:0004222 [metalloendopeptidase activity] evidence: IEA GeneID:11093 -> Molecular function: GO:0005178 [integrin binding] evidence: TAS GeneID:11093 -> Molecular function: GO:0005509 [calcium ion binding] evidence: TAS GeneID:11093 -> Molecular function: GO:0005515 [protein binding] evidence: IPI GeneID:11093 -> Molecular function: GO:0008237 [metallopeptidase activity] evidence: TAS GeneID:11093 -> Molecular function: GO:0008270 [zinc ion binding] evidence: TAS GeneID:11093 -> Biological process: GO:0006508 [proteolysis] evidence: IDA GeneID:11093 -> Biological process: GO:0007160 [cell-matrix adhesion] evidence: NAS GeneID:11093 -> Biological process: GO:0007229 [integrin-mediated signaling pathway] evidence: NAS GeneID:11093 -> Biological process: GO:0009100 [glycoprotein metabolic process] evidence: NAS GeneID:11093 -> Biological process: GO:0016485 [protein processing] evidence: TAS GeneID:11093 -> Biological process: GO:0030168 [platelet activation] evidence: NAS GeneID:11093 -> Biological process: GO:0043171 [peptide catabolic process] evidence: IDA GeneID:11093 -> Cellular component: GO:0005578 [proteinaceous extracellular matrix] evidence: TAS GeneID:11093 -> Cellular component: GO:0005615 [extracellular space] evidence: IEA GeneID:11093 -> Cellular component: GO:0009986 [cell surface] evidence: NAS ANNOTATIONS from NCBI Entrez Gene (20130726): NP_620595 -> EC 3.4.24.87
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