2024-04-27 04:17:48, GGRNA : RefSeq release 60 (20130726)
LOCUS NR_024514 3004 bp RNA linear PRI 18-JUL-2013 DEFINITION Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 13 (ADAMTS13), transcript variant 4, non-coding RNA. ACCESSION NR_024514 VERSION NR_024514.2 GI:525314516 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 3004) 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 3004) 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 3004) 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 3004) 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 3004) 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 3004) 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 3004) 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 3004) 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 3004) 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 3004) 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 DB069518.1, BC034404.1, AF414401.1 and AV655072.1. On Jul 18, 2013 this sequence version replaced gi:214010159. 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 (4) contains an alternate 5' exon and lacks multiple internal exons, compared to variant 1. This variant is represented as non-coding because it lacks a large portion of the coding region, including the translational start codon, found in variant 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. COMPLETENESS: complete on the 3' end. PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP 1-19 DB069518.1 4-22 20-1415 BC034404.1 1-1396 1416-1416 AF414401.1 2642-2642 1417-2948 BC034404.1 1398-2929 2949-3004 AV655072.1 493-548 FEATURES Location/Qualifiers source 1..3004 /organism="Homo sapiens" /mol_type="transcribed RNA" /db_xref="taxon:9606" /chromosome="9" /map="9q34" gene 1..3004 /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="MIM:604134" misc_RNA 1..3004 /gene="ADAMTS13" /gene_synonym="ADAM-TS13; ADAMTS-13; C9orf8; vWF-CP; VWFCP" /product="ADAM metallopeptidase with thrombospondin type 1 motif, 13, transcript variant 4" /db_xref="GeneID:11093" /db_xref="HGNC:1366" /db_xref="MIM:604134" misc_feature 1155..2642 /gene="ADAMTS13" /gene_synonym="ADAM-TS13; ADAMTS-13; C9orf8; vWF-CP; VWFCP" /inference="COORDINATES: alignment:Blast2seq::RefSeq|NM_139025.4" /note="predicted longest ORF does not meet quality criteria for protein coding locus with longer protein data" polyA_signal 2950..2955 /gene="ADAMTS13" /gene_synonym="ADAM-TS13; ADAMTS-13; C9orf8; vWF-CP; VWFCP" polyA_signal 2954..2959 /gene="ADAMTS13" /gene_synonym="ADAM-TS13; ADAMTS-13; C9orf8; vWF-CP; VWFCP" polyA_site 2988 /gene="ADAMTS13" /gene_synonym="ADAM-TS13; ADAMTS-13; C9orf8; vWF-CP; VWFCP" ORIGIN
aaacttgccccaaaccacccaactggcgagaagcagggacaggcctcatacttgggtctttctggcttcagcacgctttccttccacacacgtgtactggcacccactaaatgctgagctctgctcaacgctcggaagaagcaggccctgccttatcatgcgcacactctaggggaaaacaagtaacagcgagtaaacaaaggaacagacgacatcagggtaaagtgatggagagactgcggtgaggccaccagcctccataaggagacaggccttggtgaagtcgctgtgcctcggttctcagtgagttgtcttcaggctttggagccacaggccgtgtcttcttacttgagccctggtgctcccttaaaaggccgccctccttcccctggcttccagaggcagaggcagaggcagaggcgggctgcaggcggcatcctacacctggagctgctggtggccgtgggccccgatgtcttccaggctcaccaggaggacacagagcgctatgtgctcaccaacctcaacatcggggcagaactgcttcgggacccgtccctgggggctcagtttcgggtgcacctggtgaagatggtcattctgacagagcctgagggtgctccaaatatcacagccaacctcacctcgtccctgctgagcgtctgtgggtggagccagaccatcaaccctgaggacgacacggatcctggccatgctgacctggtcctctatatcactaggtttgacctggagttgcctgatggtaaccggcaggtgcggggcgtcacccagctgggcggtgcctgctccccaacctggagctgcctcattaccgaggacactggcttcgacctgggagtcaccattgcccatgagattgggcacaggatatgtgccaggccctctcctgccacacagacccgctggaccaaagcagctgcagccgcctcctcgttcctctcctggatgggacagaatgtggcgtggagaagaatatgtcacgtttctgacagttacccccaacctgaccagtgtctacattgccaaccacaggcctctcttcacacacttggcggtgaggatcggagggcgctatgtcgtggctgggaagatgagcatctcccctaacaccacctacccctccctcctggaggatggtcgtgtcgagtacagagtggccctcaccgaggaccggctgccccgcctggaggagatccgcatctggggacccctccaggaagatgctgacatccaggtgggaggtgtcagagcccagctcatgcacatcagctggtggagcaggcctggccttggagaacgagacctgtgtgccaggggcagatggcctggaggctccagtgactgaggggcctggctccgtagatgagaagctgcctgcccctgagccctgtgtcgggatgtcatgtcctccaggctggggccatctggatgccacctctgcaggggagaaggctccctccccatggggcagcatcaggacgggggctcaagctgcacacgtgtggacccctgcggcagggtcgtgctccgtctcctgcgggcgaggtctgatggagctgcgtttcctgtgcatggactctgccctcagggtgcctgtccaggaagagctgtgtggcctggcaagcaagcctgggagccggcgggaggtctgccaggctgtcccgtgccctgctcggtggcagtacaagctggcggcctgcagcgtgagctgtgggagaggggtcgtgcggaggatcctgtattgtgcccgggcccatggggaggacgatggtgaggagatcctgttggacacccagtgccaggggctgcctcgcccggaaccccaggaggcctgcagcctggagccctgcccacctaggtggaaagtcatgtcccttggcccatgttcggccagctgtggccttggcactgctagacgctcggtggcctgtgtgcagctcgaccaaggccaggacgtggaggtggacgaggcggcctgtgcggcgctggtgcggcccgaggccagtgtcccctgtctcattgccgactgcacctaccgctggcatgttggcacctggatggagtgctctgtttcctgtggggatggcatccagcgccggcgtgacacctgcctcggaccccaggcccaggcgcctgtgccagctgatttctgccagcacttgcccaagccggtgactgtgcgtggctgctgggctgggccctgtgtgggacagggtgcctgtggcaggcagcaccttgagccaacaggaaccattgacatgcgaggcccagggcaggcagactgtgcagtggccattgggcggcccctcggggaggtggtgaccctccgcgtccttgagagttctctcaactgcagtgcgggggacatgttgctgctttggggccggctcacctggaggaagatgtgcaggaagctgttggacatgactttcagctccaagaccaacacgctggtggtgaggcagcgctgcgggcggccaggaggtggggtgctgctgcggtatgggagccagcttgctcctgaaaccttctacagagatccgggacacccacagcttgaggaccacagcgttccatgggcagcaggtgctctactgggagtcagagagcagccaggctgagatggagttcagcgagggcttcctgaaggctcaggccagcctgcggggccagtactggaccctccaatcatgggtaccggagatgcaggaccctcagtcctggaagggaaaggaaggaacctgagggtcattgaacatttgttccgtgtctggccagccctggagggttgacccctggtctcagtgctttccaattcgaactttttccaatcttaggtatctactttagagtcttctccaatgtccaaaaggctagggggttggaggtggggactctggaaaagcagcccccatttcctcgggtaccaataaataaaacatgcaggctgaccggcgtttttttcttaaaaaaaaaaaaaaaa
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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
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