Details for: ADAMTS13
Associated with
Other Information
Genular Protein ID: 1060051062
Symbol: ATS13_HUMAN
Name: A disintegrin and metalloproteinase with thrombospondin motifs 13
UniProtKB Accession Codes:
Database IDs:
Citations:
PubMed ID: 11574066
Title: A novel human metalloprotease synthesized in the liver and secreted into the blood: possibly, the von Willebrand factor-cleaving protease?
PubMed ID: 11574066
PubMed ID: 11557746
Title: Structure of von Willebrand factor-cleaving protease (ADAMTS13), a metalloprotease involved in thrombotic thrombocytopenic purpura.
PubMed ID: 11557746
PubMed ID: 11586351
Title: Mutations in a member of the ADAMTS gene family cause thrombotic thrombocytopenic purpura.
PubMed ID: 11586351
DOI: 10.1038/35097008
PubMed ID: 11867212
Title: Cloning, expression analysis, and structural characterization of seven novel human ADAMTSs, a family of metalloproteinases with disintegrin and thrombospondin-1 domains.
PubMed ID: 11867212
PubMed ID: 15164053
Title: DNA sequence and analysis of human chromosome 9.
PubMed ID: 15164053
DOI: 10.1038/nature02465
PubMed ID: 12975309
Title: The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment.
PubMed ID: 12975309
DOI: 10.1101/gr.1293003
PubMed ID: 11230166
Title: Towards a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs.
PubMed ID: 11230166
DOI: 10.1101/gr.gr1547r
PubMed ID: 11535494
Title: Partial amino acid sequence of purified von Willebrand factor-cleaving protease.
PubMed ID: 11535494
PubMed ID: 11535495
Title: Purification of human von Willebrand factor-cleaving protease and its identification as a new member of the metalloproteinase family.
PubMed ID: 11535495
PubMed ID: 12791682
Title: Cleavage of von Willebrand factor requires the spacer domain of the metalloprotease ADAMTS13.
PubMed ID: 12791682
PubMed ID: 12975358
Title: Cleavage of the ADAMTS13 propeptide is not required for protease activity.
PubMed ID: 12975358
PubMed ID: 16335952
Title: Human plasma N-glycoproteome analysis by immunoaffinity subtraction, hydrazide chemistry, and mass spectrometry.
PubMed ID: 16335952
DOI: 10.1021/pr0502065
PubMed ID: 16286459
Title: Zinc and calcium ions cooperatively modulate ADAMTS13 activity.
PubMed ID: 16286459
PubMed ID: 17395589
Title: O-fucosylation is required for ADAMTS13 secretion.
PubMed ID: 17395589
PubMed ID: 19047683
Title: A functional calcium-binding site in the metalloprotease domain of ADAMTS13.
PubMed ID: 19047683
PubMed ID: 19139490
Title: A strategy for precise and large scale identification of core fucosylated glycoproteins.
PubMed ID: 19139490
PubMed ID: 19847791
Title: ADAMTS13 mutations and polymorphisms in congenital thrombotic thrombocytopenic purpura.
PubMed ID: 19847791
DOI: 10.1002/humu.21143
PubMed ID: 19880749
Title: Crystal structures of the noncatalytic domains of ADAMTS13 reveal multiple discontinuous exosites for von Willebrand factor.
PubMed ID: 19880749
PubMed ID: 12181489
Title: Mutations and common polymorphisms in ADAMTS13 gene responsible for von Willebrand factor-cleaving protease activity.
PubMed ID: 12181489
PubMed ID: 12393505
Title: von Willebrand factor cleaving protease and ADAMTS13 mutations in childhood TTP.
PubMed ID: 12393505
PubMed ID: 12614216
Title: ADAMTS13 gene defects in two brothers with constitutional thrombotic thrombocytopenic purpura and normalization of von Willebrand factor-cleaving protease activity by recombinant human ADAMTS13.
PubMed ID: 12614216
PubMed ID: 12753286
Title: Mutation analysis and clinical implications of von Willebrand factor-cleaving protease deficiency.
PubMed ID: 12753286
PubMed ID: 14512317
Title: Congenital thrombotic thrombocytopenic purpura in association with a mutation in the second CUB domain of ADAMTS13.
PubMed ID: 14512317
PubMed ID: 14563640
Title: Molecular characterization of ADAMTS13 gene mutations in Japanese patients with Upshaw-Schulman syndrome.
PubMed ID: 14563640
PubMed ID: 15126318
Title: Identification of novel mutations in ADAMTS13 in an adult patient with congenital thrombotic thrombocytopenic purpura.
PubMed ID: 15126318
PubMed ID: 15009458
Title: Ten candidate ADAMTS13 mutations in six French families with congenital thrombotic thrombocytopenic purpura (Upshaw-Schulman syndrome).
PubMed ID: 15009458
PubMed ID: 15327386
Title: Two novel ADAMTS13 gene mutations in thrombotic thrombocytopenic purpura/hemolytic-uremic syndrome (TTP/HUS).
PubMed ID: 15327386
PubMed ID: 16468327
Title: Identification of two novel mutations in ADAMTS13 gene in a patient with hereditary thrombotic thrombocytopenic purpura.
PubMed ID: 16468327
PubMed ID: 16160007
Title: Modulation of ADAMTS13 secretion and specific activity by a combination of common amino acid polymorphisms and a missense mutation.
PubMed ID: 16160007
PubMed ID: 16453338
Title: Mechanisms of the interaction between two ADAMTS13 gene mutations leading to severe deficiency of enzymatic activity.
PubMed ID: 16453338
DOI: 10.1002/humu.20267
PubMed ID: 16796708
Title: Novel ADAMTS-13 mutations in an adult with delayed onset thrombotic thrombocytopenic purpura.
PubMed ID: 16796708
PubMed ID: 16449289
Title: Novel compound heterozygote mutations (H234Q/R1206X) of the ADAMTS13 gene in an adult patient with Upshaw-Schulman syndrome showing predominant episodes of repeated acute renal failure.
PubMed ID: 16449289
DOI: 10.1093/ndt/gfk072
PubMed ID: 16807643
Title: A common origin of the 4143insA ADAMTS13 mutation.
PubMed ID: 16807643
DOI: 10.1160/th05-12-0817
PubMed ID: 17003922
Title: In-vitro and in-vivo consequences of mutations in the von Willebrand factor cleaving protease ADAMTS13 in thrombotic thrombocytopenic purpura.
PubMed ID: 17003922
DOI: 10.1160/th06-05-0236
PubMed ID: 18443791
Title: A first case of congenital TTP on the African continent due to a new homozygous mutation in the catalytic domain of ADAMTS13.
PubMed ID: 18443791
PubMed ID: 19055667
Title: Pregnancy-induced thrombocytopenia and TTP, and the risk of fetal death, in Upshaw-Schulman syndrome: a series of 15 pregnancies in 9 genotyped patients.
PubMed ID: 19055667
PubMed ID: 19116307
Title: The first deletion mutation in the TSP1-6 repeat domain of ADAMTS13 in a family with inherited thrombotic thrombocytopenic purpura.
PubMed ID: 19116307
PubMed ID: 22075512
Title: A novel homozygous missense ADAMTS13 mutation Y658C in a patient with recurrent thrombotic thrombocytopenic purpura.
PubMed ID: 22075512
PubMed ID: 21488199
Title: ADAMTS13 gene mutations in children with hemolytic uremic syndrome.
PubMed ID: 21488199
Sequence Information:
- Length: 1427
- Mass: 153604
- Checksum: A2103AFABC1A4445
- Sequence:
MHQRHPRARC PPLCVAGILA CGFLLGCWGP SHFQQSCLQA LEPQAVSSYL SPGAPLKGRP PSPGFQRQRQ RQRRAAGGIL HLELLVAVGP DVFQAHQEDT ERYVLTNLNI GAELLRDPSL GAQFRVHLVK MVILTEPEGA PNITANLTSS LLSVCGWSQT INPEDDTDPG HADLVLYITR FDLELPDGNR QVRGVTQLGG ACSPTWSCLI TEDTGFDLGV TIAHEIGHSF GLEHDGAPGS GCGPSGHVMA SDGAAPRAGL AWSPCSRRQL LSLLSAGRAR CVWDPPRPQP GSAGHPPDAQ PGLYYSANEQ CRVAFGPKAV ACTFAREHLD MCQALSCHTD PLDQSSCSRL LVPLLDGTEC GVEKWCSKGR CRSLVELTPI AAVHGRWSSW GPRSPCSRSC GGGVVTRRRQ CNNPRPAFGG RACVGADLQA EMCNTQACEK TQLEFMSQQC ARTDGQPLRS SPGGASFYHW GAAVPHSQGD ALCRHMCRAI GESFIMKRGD SFLDGTRCMP SGPREDGTLS LCVSGSCRTF GCDGRMDSQQ VWDRCQVCGG DNSTCSPRKG SFTAGRAREY VTFLTVTPNL TSVYIANHRP LFTHLAVRIG GRYVVAGKMS ISPNTTYPSL LEDGRVEYRV ALTEDRLPRL EEIRIWGPLQ EDADIQVYRR YGEEYGNLTR PDITFTYFQP KPRQAWVWAA VRGPCSVSCG AGLRWVNYSC LDQARKELVE TVQCQGSQQP PAWPEACVLE PCPPYWAVGD FGPCSASCGG GLRERPVRCV EAQGSLLKTL PPARCRAGAQ QPAVALETCN PQPCPARWEV SEPSSCTSAG GAGLALENET CVPGADGLEA PVTEGPGSVD EKLPAPEPCV GMSCPPGWGH LDATSAGEKA PSPWGSIRTG AQAAHVWTPA AGSCSVSCGR GLMELRFLCM DSALRVPVQE ELCGLASKPG SRREVCQAVP CPARWQYKLA ACSVSCGRGV VRRILYCARA HGEDDGEEIL LDTQCQGLPR PEPQEACSLE PCPPRWKVMS LGPCSASCGL GTARRSVACV QLDQGQDVEV DEAACAALVR PEASVPCLIA DCTYRWHVGT WMECSVSCGD GIQRRRDTCL GPQAQAPVPA DFCQHLPKPV TVRGCWAGPC VGQGTPSLVP HEEAAAPGRT TATPAGASLE WSQARGLLFS PAPQPRRLLP GPQENSVQSS ACGRQHLEPT GTIDMRGPGQ ADCAVAIGRP LGEVVTLRVL ESSLNCSAGD MLLLWGRLTW RKMCRKLLDM TFSSKTNTLV VRQRCGRPGG GVLLRYGSQL APETFYRECD MQLFGPWGEI VSPSLSPATS NAGGCRLFIN VAPHARIAIH ALATNMGAGT EGANASYILI RDTHSLRTTA FHGQQVLYWE SESSQAEMEF SEGFLKAQAS LRGQYWTLQS WVPEMQDPQS WKGKEGT
Database document:
This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.