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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
//

Annotations:

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

by @meso_cacase at DBCLS
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