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    ADAMTS13 ADAM metallopeptidase with thrombospondin type 1 motif 13 [ Homo sapiens (human) ]

    Gene ID: 11093, updated on 2-Nov-2024

    Summary

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    Official Symbol
    ADAMTS13provided by HGNC
    Official Full Name
    ADAM metallopeptidase with thrombospondin type 1 motif 13provided by HGNC
    Primary source
    HGNC:HGNC:1366
    See related
    Ensembl:ENSG00000160323 MIM:604134; AllianceGenome:HGNC:1366
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    VWFCP; C9orf8; vWF-CP; ADAM-TS13; ADAMTS-13
    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]
    Expression
    Broad expression in liver (RPKM 4.0), testis (RPKM 2.7) and 24 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See ADAMTS13 in Genome Data Viewer
    Location:
    9q34.2
    Exon count:
    32
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (133414337..133459386)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (145628765..145673828)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (136279457..136324508)

    Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20453 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29237 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:136234564-136235235 Neighboring gene surfeit 2 Neighboring gene surfeit 4 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20454 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20455 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20456 Neighboring gene serine/threonine kinase like domain containing 1 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr9:136257045-136257682 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:136265498-136266135 Neighboring gene ReSE screen-validated silencer GRCh37_chr9:136267839-136268006 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:136269742-136270242 Neighboring gene REX4 homolog, 3'-5' exonuclease Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20457 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29238 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29239 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29241 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29240 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20458 Neighboring gene ReSE screen-validated silencer GRCh37_chr9:136295843-136296052 Neighboring gene ReSE screen-validated silencer GRCh37_chr9:136321575-136321727 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:136322178-136323045 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20459 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20460 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20461 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:136327558-136328114 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29242 Neighboring gene uncharacterized LOC124902295 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29243 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29244 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29245 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20462 Neighboring gene calcium channel flower domain containing 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29246 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:136344231-136344732 Neighboring gene solute carrier family 2 member 6

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. ADAMTS13 gene mutations in children with hemolytic uremic syndrome. Choi HS, et al. Yonsei Med J, 2011 May. PMID 21488199, Free PMC Article
    2. Reduced ADAMTS13 in children with severe meningococcal sepsis is associated with severity and outcome. Bongers TN, et al. Thromb Haemost, 2010 Jun. PMID 20390223
    3. Proteolytic fragmentation and sugar chains of plasma ADAMTS13 purified by a conformation-dependent monoclonal antibody. Hiura H, et al. J Biochem, 2010 Oct. PMID 20624874
    4. The ADAMTS13 metalloprotease domain: roles of subsites in enzyme activity and specificity. de Groot R, et al. Blood, 2010 Oct 21. PMID 20647566, Free PMC Article
    5. A splice variant of ADAMTS13 is expressed in human hepatic stellate cells and cancerous tissues. Shomron N, et al. Thromb Haemost, 2010 Sep. PMID 20664912, Free PMC Article

    See all (539) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Improving our understanding on the clinical role of plasmin-mediated von Willebrand factor degradation.
      Title: Improving our understanding on the clinical role of plasmin-mediated von Willebrand factor degradation.
    2. Evaluating the potential mediating role of ADAMTS13 activity in the relationship between obesity and the severity of COVID-19: A retrospective cohort study.
      Title: Evaluating the potential mediating role of ADAMTS13 activity in the relationship between obesity and the severity of COVID-19: A retrospective cohort study.
    3. ADAMTS-13 conformation influences autoimmune recognition in immune thrombotic thrombocytopenic purpura.
      Title: ADAMTS-13 conformation influences autoimmune recognition in immune thrombotic thrombocytopenic purpura.
    4. Ischemic Stroke Thrombus Perviousness Is Associated with Distinguishable Proteomic Features and Susceptibility to ADAMTS13-Augmented Thrombolysis.
      Title: Ischemic Stroke Thrombus Perviousness Is Associated with Distinguishable Proteomic Features and Susceptibility to ADAMTS13-Augmented Thrombolysis.
    5. Persistently elevated sFlt-1 and recovery of reduced ADAMTS13 activity in malignant hypertension.
      Title: Persistently elevated sFlt-1 and recovery of reduced ADAMTS13 activity in malignant hypertension.
    6. ADAMTS13 inhibits H2O2-induced human venous endothelial cell injury to attenuate deep-vein thrombosis by blocking the p38/ERK signaling pathway.
      Title: ADAMTS13 inhibits H(2)O(2)-induced human venous endothelial cell injury to attenuate deep-vein thrombosis by blocking the p38/ERK signaling pathway.
    7. ADAMTS13 regulates angiogenic markers via Ephrin/Eph signaling in human mesenchymal stem cells under serum-deprivation stress.
      Title: ADAMTS13 regulates angiogenic markers via Ephrin/Eph signaling in human mesenchymal stem cells under serum-deprivation stress.
    8. A Moderate Decrease in ADAMTS13 Activity Correlates with the Severity of STEC-HUS.
      Title: A Moderate Decrease in ADAMTS13 Activity Correlates with the Severity of STEC-HUS.
    9. Identification of 8 Rare Deleterious Variants in ADAMTS13 by Next-generation Sequencing in a Chinese Population with Thrombotic Thrombocytopenic Purpura.
      Title: Identification of 8 Rare Deleterious Variants in ADAMTS13 by Next-generation Sequencing in a Chinese Population with Thrombotic Thrombocytopenic Purpura.
    10. Evaluating von Willebrand factor and ADAMTS13 levels in thalassemia major patients and assessing a possible association with Thrombospondin-1.
      Title: Evaluating von Willebrand factor and ADAMTS13 levels in thalassemia major patients and assessing a possible association with Thrombospondin-1.
    Submit: New GeneRIF Correction See all GeneRIFs (502)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Upshaw-Schulman syndrome
    MedGen: C1268935 OMIM: 274150 GeneReviews: Not available
    		Compare labs

    EBI GWAS Catalog

    Description
    Genetic associations for activated partial thromboplastin time and prothrombin time, their gene expression profiles, and risk of coronary artery disease.
    EBI GWAS Catalog
    Genome-wide association study identifies multiple susceptibility loci for pancreatic cancer.
    EBI GWAS Catalog
    Linkage analysis identifies a locus for plasma von Willebrand factor undetected by genome-wide association.
    EBI GWAS Catalog
    Population-based genome-wide association studies reveal six loci influencing plasma levels of liver enzymes.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ42993, MGC118899, MGC118900, DKFZp434C2322

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables calcium ion binding TAS
    Traceable Author Statement
    more info
    		 PubMed 
    enables integrin binding TAS
    Traceable Author Statement
    more info
    		 PubMed 
    enables metalloendopeptidase activity EXP
    Inferred from Experiment
    more info
    		 PubMed 
    enables metalloendopeptidase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables metalloendopeptidase activity TAS
    Traceable Author Statement
    more info
    		  
    enables metallopeptidase activity TAS
    Traceable Author Statement
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables zinc ion binding TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in blood coagulation TAS
    Traceable Author Statement
    more info
    		  
    involved_in cell-matrix adhesion NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in cellular response to interleukin-4 IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in cellular response to lipopolysaccharide IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in cellular response to tumor necrosis factor IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in cellular response to type II interferon IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in extracellular matrix organization IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in glycoprotein metabolic process NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in integrin-mediated signaling pathway NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in peptide catabolic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in platelet activation NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in protein catabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in protein processing TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in proteolysis IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in proteolysis IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in response to amine IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in response to potassium ion IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in response to toxic substance IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in cell surface NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    located_in endoplasmic reticulum lumen TAS
    Traceable Author Statement
    more info
    		  
    is_active_in extracellular matrix IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in extracellular matrix TAS
    Traceable Author Statement
    more info
    		 PubMed 
    located_in extracellular region TAS
    Traceable Author Statement
    more info
    		  
    located_in extracellular space IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    A disintegrin and metalloproteinase with thrombospondin motifs 13
    Names
    a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 13
    vWF-cleaving protease
    von Willebrand factor-cleaving protease
    NP_620594.1
    NP_620595.1
    NP_620596.2
    XP_011516478.1
    XP_011516480.1
    XP_011516481.1
    XP_016869721.1
    XP_016869722.1
    XP_016869723.1
    XP_016869724.1
    XP_047278655.1
    XP_047278656.1
    XP_054187537.1
    XP_054187538.1
    XP_054187539.1
    XP_054187540.1
    XP_054187541.1
    XP_054187542.1
    XP_054187543.1
    XP_054187544.1
    XP_054187545.1
    XP_054217833.1
    XP_054217834.1
    XP_054217835.1
    XP_054217836.1
    XP_054217837.1
    XP_054217838.1
    XP_054217839.1

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_011934.2 RefSeqGene

      Range
      12662..50065
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_544

    mRNA and Protein(s)

    1. NM_139025.5 → NP_620594.1  A disintegrin and metalloproteinase with thrombospondin motifs 13 isoform 1 preproprotein

      See identical proteins and their annotated locations for NP_620594.1

      Status: REVIEWED

      Source sequence(s)
      AL593848
      Consensus CDS
      CCDS6970.1
      UniProtKB/Swiss-Prot
      Q6UY16, Q710F6, Q711T8, Q76LX8, Q96L37, Q9H0G3, Q9UGQ1
      Related
      ENSP00000360997.3, ENST00000371929.7
      Conserved Domains (3) summary
      smart00209
      Location:387 → 439
      TSP1; Thrombospondin type 1 repeats
      cd04273
      Location:80 → 283
      ZnMc_ADAMTS_like; 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 ...
      pfam05986
      Location:559 → 680
      ADAM_spacer1; ADAM-TS Spacer 1

    2. NM_139026.6 → NP_620595.1  A disintegrin and metalloproteinase with thrombospondin motifs 13 isoform 3 preproprotein

      See identical proteins and their annotated locations for NP_620595.1

      Status: REVIEWED

      Source sequence(s)
      AL593848
      Consensus CDS
      CCDS6971.1
      UniProtKB/Swiss-Prot
      Q76LX8
      Related
      ENSP00000348997.2, ENST00000356589.6
      Conserved Domains (3) summary
      smart00209
      Location:356 → 408
      TSP1; Thrombospondin type 1 repeats
      cd04273
      Location:80 → 277
      ZnMc_ADAMTS_like; 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 ...
      pfam05986
      Location:528 → 649
      ADAM_spacer1; ADAM-TS Spacer 1

    3. NM_139027.6 → NP_620596.2  A disintegrin and metalloproteinase with thrombospondin motifs 13 isoform 2 preproprotein

      See identical proteins and their annotated locations for NP_620596.2

      Status: REVIEWED

      Source sequence(s)
      AL593848
      Consensus CDS
      CCDS6972.1
      UniProtKB/Swiss-Prot
      Q76LX8
      Related
      ENSP00000347927.2, ENST00000355699.7
      Conserved Domains (3) summary
      smart00209
      Location:387 → 439
      TSP1; Thrombospondin type 1 repeats
      cd04273
      Location:80 → 283
      ZnMc_ADAMTS_like; 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 ...
      pfam05986
      Location:559 → 680
      ADAM_spacer1; ADAM-TS Spacer 1

    RNA

    1. NR_024514.3 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AL593848
      Related
      ENST00000485925.5

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000009.12 Reference GRCh38.p14 Primary Assembly

      Range
      133414337..133459386
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017014233.2 → XP_016869722.1  A disintegrin and metalloproteinase with thrombospondin motifs 13 isoform X3

      Conserved Domains (3) summary
      smart00209
      Location:257 → 309
      TSP1; Thrombospondin type 1 repeats
      pfam05986
      Location:429 → 550
      ADAM_spacer1; ADAM-TS Spacer 1
      cl00064
      Location:1 → 153
      ZnMc; Zinc-dependent metalloprotease. This super-family of metalloproteases contains two major branches, the astacin-like proteases and the adamalysin/reprolysin-like proteases. Both branches have wide phylogenetic distribution, and contain sub-families, which ...

    2. XM_017014232.2 → XP_016869721.1  A disintegrin and metalloproteinase with thrombospondin motifs 13 isoform X1

    3. XM_047422699.1 → XP_047278655.1  A disintegrin and metalloproteinase with thrombospondin motifs 13 isoform X2

    4. XM_017014235.2 → XP_016869724.1  A disintegrin and metalloproteinase with thrombospondin motifs 13 isoform X8

    5. XM_047422700.1 → XP_047278656.1  A disintegrin and metalloproteinase with thrombospondin motifs 13 isoform X9

    6. XM_017014234.2 → XP_016869723.1  A disintegrin and metalloproteinase with thrombospondin motifs 13 isoform X5

      Conserved Domains (2) summary
      smart00209
      Location:57 → 109
      TSP1; Thrombospondin type 1 repeats
      pfam05986
      Location:229 → 350
      ADAM_spacer1; ADAM-TS Spacer 1

    7. XM_011518176.4 → XP_011516478.1  A disintegrin and metalloproteinase with thrombospondin motifs 13 isoform X4

      See identical proteins and their annotated locations for XP_011516478.1

      Conserved Domains (2) summary
      smart00209
      Location:59 → 111
      TSP1; Thrombospondin type 1 repeats
      pfam05986
      Location:231 → 352
      ADAM_spacer1; ADAM-TS Spacer 1

    8. XM_011518179.1 → XP_011516481.1  A disintegrin and metalloproteinase with thrombospondin motifs 13 isoform X7

      See identical proteins and their annotated locations for XP_011516481.1

      Conserved Domains (1) summary
      smart00209
      Location:301 → 360
      TSP1; Thrombospondin type 1 repeats

    9. XM_011518178.3 → XP_011516480.1  A disintegrin and metalloproteinase with thrombospondin motifs 13 isoform X6

      See identical proteins and their annotated locations for XP_011516480.1

      Conserved Domains (1) summary
      pfam05986
      Location:114 → 235
      ADAM_spacer1; ADAM-TS Spacer 1

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_009646201.1 Reference GRCh38.p14 PATCHES

      Range
      240431..285480
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054331564.1 → XP_054187539.1  A disintegrin and metalloproteinase with thrombospondin motifs 13 isoform X3

    2. XM_054331562.1 → XP_054187537.1  A disintegrin and metalloproteinase with thrombospondin motifs 13 isoform X1

    3. XM_054331563.1 → XP_054187538.1  A disintegrin and metalloproteinase with thrombospondin motifs 13 isoform X2

    4. XM_054331569.1 → XP_054187544.1  A disintegrin and metalloproteinase with thrombospondin motifs 13 isoform X8

    5. XM_054331570.1 → XP_054187545.1  A disintegrin and metalloproteinase with thrombospondin motifs 13 isoform X9

    6. XM_054331566.1 → XP_054187541.1  A disintegrin and metalloproteinase with thrombospondin motifs 13 isoform X5

    7. XM_054331565.1 → XP_054187540.1  A disintegrin and metalloproteinase with thrombospondin motifs 13 isoform X4

    8. XM_054331568.1 → XP_054187543.1  A disintegrin and metalloproteinase with thrombospondin motifs 13 isoform X7

    9. XM_054331567.1 → XP_054187542.1  A disintegrin and metalloproteinase with thrombospondin motifs 13 isoform X6

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060933.1 Alternate T2T-CHM13v2.0

      Range
      145628765..145673828
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054361858.1 → XP_054217833.1  A disintegrin and metalloproteinase with thrombospondin motifs 13 isoform X10

    2. XM_054361860.1 → XP_054217835.1  A disintegrin and metalloproteinase with thrombospondin motifs 13 isoform X3

    3. XM_054361859.1 → XP_054217834.1  A disintegrin and metalloproteinase with thrombospondin motifs 13 isoform X1

    4. XM_054361862.1 → XP_054217837.1  A disintegrin and metalloproteinase with thrombospondin motifs 13 isoform X5

    5. XM_054361861.1 → XP_054217836.1  A disintegrin and metalloproteinase with thrombospondin motifs 13 isoform X4

    6. XM_054361864.1 → XP_054217839.1  A disintegrin and metalloproteinase with thrombospondin motifs 13 isoform X7

    7. XM_054361863.1 → XP_054217838.1  A disintegrin and metalloproteinase with thrombospondin motifs 13 isoform X6

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_139028.2: Suppressed sequence

      Description
      NM_139028.2: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q76LX8.1 GenPept UniProtKB/Swiss-Prot:Q76LX8

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