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    ADAMTS17 ADAM metallopeptidase with thrombospondin type 1 motif 17 [ Homo sapiens (human) ]

    Gene ID: 170691, updated on 5-Mar-2024

    Summary

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    Official Symbol
    ADAMTS17provided by HGNC
    Official Full Name
    ADAM metallopeptidase with thrombospondin type 1 motif 17provided by HGNC
    Primary source
    HGNC:HGNC:17109
    See related
    Ensembl:ENSG00000140470 MIM:607511; AllianceGenome:HGNC:17109
    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
    WMS4
    Summary
    This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. ADAMTS family members share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The encoded preproprotein is proteolytically processed to generate the mature protein, which may promote breast cancer cell growth and survival. Mutations in this gene are associated with a Weill-Marchesani-like syndrome, which is characterized by lenticular myopia, ectopia lentis, glaucoma, spherophakia, and short stature. [provided by RefSeq, May 2016]
    Expression
    Low expression observed in reference dataset See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    15q26.3
    Exon count:
    33
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (99971437..100341975, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (97727466..98099930, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (100511642..100882180, complement)

    Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124903563 Neighboring gene ReSE screen-validated silencer GRCh37_chr15:100346147-100346518 Neighboring gene ubiquitin conjugating enzyme E2 Q2 pseudogene Neighboring gene dynamin 1 pseudogene 46 Neighboring gene Sharpr-MPRA regulatory region 11003 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10164 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:100456801-100457665 Neighboring gene Sharpr-MPRA regulatory region 10020 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:100515897-100516492 Neighboring gene uncharacterized LOC105371022 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:100516493-100517088 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:100521898-100522876 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:100523855-100524832 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:100532449-100532963 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:100532964-100533477 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:100537785-100538412 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:100538413-100539040 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:100539041-100539668 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:100542118-100542966 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr15:100556815-100558014 Neighboring gene Sharpr-MPRA regulatory region 8829 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:100624491-100624991 Neighboring gene RNA, 5S ribosomal pseudogene 402 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:100648765-100649612 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr15:100651166-100652365 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr15:100663469-100664668 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10165 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10166 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6876 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:100739855-100740621 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:100740622-100741387 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:100742159-100742696 Neighboring gene Sharpr-MPRA regulatory region 9518 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr15:100781303-100782502 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:100805303-100805804 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:100819145-100819835 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:100849823-100850322 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:100880514-100881032 Neighboring gene uncharacterized LOC105371021 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10167 Neighboring gene spermatogenesis associated 41 Neighboring gene CERS3 antisense RNA 1 Neighboring gene ceramide synthase 3

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. A novel pathogenic missense ADAMTS17 variant that impairs secretion causes Weill-Marchesani Syndrome with variably dysmorphic hand features. Evans DR, et al. Sci Rep, 2020 Jul 2. PMID 32616716, Free PMC Article
    2. A novel nonsense mutation in ADAMTS17 caused autosomal recessive inheritance Weill-Marchesani syndrome from a Chinese family. Yi H, et al. J Hum Genet, 2019 Jul. PMID 31019231
    3. Unusual life cycle and impact on microfibril assembly of ADAMTS17, a secreted metalloprotease mutated in genetic eye disease. Hubmacher D, et al. Sci Rep, 2017 Feb 8. PMID 28176809, Free PMC Article
    4. Whole exome sequencing identifies a novel splice-site mutation in ADAMTS17 in an Indian family with Weill-Marchesani syndrome. Shah MH, et al. Mol Vis, 2014. PMID 24940034, Free PMC Article
    5. Familial spherophakia with short stature caused by a novel homozygous ADAMTS17 mutation. Khan AO, et al. Ophthalmic Genet, 2012 Dec. PMID 22486325

    See all (29) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Characteristics and genotype-phenotype correlations in ADAMTS17 mutation-related Weill-Marchesani syndrome.
      Title: Characteristics and genotype-phenotype correlations in ADAMTS17 mutation-related Weill-Marchesani syndrome.
    2. A common variant rs2054564 in ADAMST17 is associated with susceptibility to lumbar spondylosis.
      Title: A common variant rs2054564 in ADAMST17 is associated with susceptibility to lumbar spondylosis.
    3. The role of ADAMTS6 and ADAMTS17 polymorphisms in susceptibility to lumbar disc herniation in Chinese Han population.
      Title: The role of ADAMTS6 and ADAMTS17 polymorphisms in susceptibility to lumbar disc herniation in Chinese Han population.
    4. A novel ADAMTS17 variant that causes Weill-Marchesani syndrome 4 alters fibrillin-1 and collagen type I deposition in the extracellular matrix.
      Title: A novel ADAMTS17 variant that causes Weill-Marchesani syndrome 4 alters fibrillin-1 and collagen type I deposition in the extracellular matrix.
    5. A novel pathogenic missense ADAMTS17 variant that impairs secretion causes Weill-Marchesani Syndrome with variably dysmorphic hand features.
      Title: A novel pathogenic missense ADAMTS17 variant that impairs secretion causes Weill-Marchesani Syndrome with variably dysmorphic hand features.
    6. A novel nonsense mutation c.1051 A > T in ADAMTS17 had been identified caused autosomal recessive WMS in the Chinese family.
      Title: A novel nonsense mutation in ADAMTS17 caused autosomal recessive inheritance Weill-Marchesani syndrome from a Chinese family.
    7. Secretion of ADAMTS17 requires O-fucosylation. ADAMTS17 binds fibrillin-2 but not fibrillin-1 and does not cleave either. ADAMTS17 regulates fibrillin isoform composition of microfibrils in the eye.
      Title: Unusual life cycle and impact on microfibril assembly of ADAMTS17, a secreted metalloprotease mutated in genetic eye disease.
    8. higher Adamts17 expression is found in several human cancer cell subtypes, especially in breast ductal carcinoma and there is an inverse correlation between higher Adamts17 expression and patients' survival.
      Title: Sp1 is necessary for gene activation of Adamts17 by estrogen.
    9. The mutation in the Weill-Marchesani syndrome (WMS)- gene ADAMTS17 also causes WMS in an Indian family.
      Title: Whole exome sequencing identifies a novel splice-site mutation in ADAMTS17 in an Indian family with Weill-Marchesani syndrome.
    10. A mutation in WMS-like gene ADAMTS17 also causes WMS.
      Title: Whole exome sequencing identifies a novel splice-site mutation in ADAMTS17 in an Indian family with Weill-Marchesani syndrome.
    Submit: New GeneRIF Correction See all GeneRIFs (16)

    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
    Weill-Marchesani 4 syndrome, recessive
    MedGen: C2750787 OMIM: 613195 GeneReviews: Weill-Marchesani Syndrome
    		Compare labs

    EBI GWAS Catalog

    Description
    Genome-wide association study identifies two susceptibility loci for osteosarcoma.
    EBI GWAS Catalog
    Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.
    EBI GWAS Catalog
    Hundreds of variants clustered in genomic loci and biological pathways affect human height.
    EBI GWAS Catalog
    Many sequence variants affecting diversity of adult human height.
    EBI GWAS Catalog
    Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.
    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

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ16363, FLJ32769

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables metalloendopeptidase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in extracellular matrix organization IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in proteolysis IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in proteolysis IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    is_active_in extracellular matrix IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in extracellular region IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    A disintegrin and metalloproteinase with thrombospondin motifs 17
    Names
    a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 17

    NCBI Reference Sequences (RefSeq)

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    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_016287.2 RefSeqGene

      Range
      5004..375542
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_139057.4 → NP_620688.2  A disintegrin and metalloproteinase with thrombospondin motifs 17 preproprotein

      See identical proteins and their annotated locations for NP_620688.2

      Status: REVIEWED

      Source sequence(s)
      AC084855, AC113187, AJ315735, DB279404
      Consensus CDS
      CCDS10383.1
      UniProtKB/Swiss-Prot
      Q2I7G4, Q6ZN75, Q8TE56
      Related
      ENSP00000268070.4, ENST00000268070.9
      Conserved Domains (7) summary
      smart00209
      Location:546 → 598
      TSP1; Thrombospondin type 1 repeats
      cd04273
      Location:232 → 449
      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 ...
      pfam00090
      Location:868 → 921
      TSP_1; Thrombospondin type 1 domain
      pfam01421
      Location:232 → 449
      Reprolysin; Reprolysin (M12B) family zinc metalloprotease
      pfam01562
      Location:81 → 180
      Pep_M12B_propep; Reprolysin family propeptide
      pfam05986
      Location:713 → 783
      ADAM_spacer1; ADAM-TS Spacer 1
      pfam08686
      Location:1055 → 1081
      PLAC; PLAC (protease and lacunin) domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000015.10 Reference GRCh38.p14 Primary Assembly

      Range
      99971437..100341975 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005254872.4 → XP_005254929.1  A disintegrin and metalloproteinase with thrombospondin motifs 17 isoform X5

      UniProtKB/TrEMBL
      H3BRA9
      Related
      ENSP00000456161.2, ENST00000568565.2
      Conserved Domains (7) summary
      smart00209
      Location:546 → 598
      TSP1; Thrombospondin type 1 repeats
      cd04273
      Location:232 → 449
      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 ...
      pfam00090
      Location:895 → 948
      TSP_1; Thrombospondin type 1 domain
      pfam01421
      Location:232 → 449
      Reprolysin; Reprolysin (M12B) family zinc metalloprotease
      pfam01562
      Location:81 → 180
      Pep_M12B_propep; Reprolysin family propeptide
      pfam05986
      Location:702 → 810
      ADAM_spacer1; ADAM-TS Spacer 1
      pfam08686
      Location:1082 → 1108
      PLAC; PLAC (protease and lacunin) domain

    2. XM_011521312.3 → XP_011519614.1  A disintegrin and metalloproteinase with thrombospondin motifs 17 isoform X4

      Conserved Domains (7) summary
      smart00209
      Location:546 → 598
      TSP1; Thrombospondin type 1 repeats
      cd04273
      Location:232 → 449
      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 ...
      pfam00090
      Location:918 → 971
      TSP_1; Thrombospondin type 1 domain
      pfam01421
      Location:232 → 449
      Reprolysin; Reprolysin (M12B) family zinc metalloprotease
      pfam01562
      Location:81 → 180
      Pep_M12B_propep; Reprolysin family propeptide
      pfam05986
      Location:737 → 833
      ADAM_spacer1; ADAM-TS Spacer 1
      pfam08686
      Location:1105 → 1131
      PLAC; PLAC (protease and lacunin) domain

    3. XM_017021975.2 → XP_016877464.1  A disintegrin and metalloproteinase with thrombospondin motifs 17 isoform X3

    4. XM_017021973.3 → XP_016877462.1  A disintegrin and metalloproteinase with thrombospondin motifs 17 isoform X1

    5. XM_017021979.2 → XP_016877468.1  A disintegrin and metalloproteinase with thrombospondin motifs 17 isoform X8

    6. XM_017021978.2 → XP_016877467.1  A disintegrin and metalloproteinase with thrombospondin motifs 17 isoform X7

    7. XM_017021980.2 → XP_016877469.1  A disintegrin and metalloproteinase with thrombospondin motifs 17 isoform X8

    8. XM_017021983.2 → XP_016877472.1  A disintegrin and metalloproteinase with thrombospondin motifs 17 isoform X12

    9. XM_017021982.2 → XP_016877471.1  A disintegrin and metalloproteinase with thrombospondin motifs 17 isoform X11

    10. XM_017021974.2 → XP_016877463.1  A disintegrin and metalloproteinase with thrombospondin motifs 17 isoform X2

    11. XM_017021977.2 → XP_016877466.1  A disintegrin and metalloproteinase with thrombospondin motifs 17 isoform X6

    12. XM_017021984.2 → XP_016877473.1  A disintegrin and metalloproteinase with thrombospondin motifs 17 isoform X13

      UniProtKB/Swiss-Prot
      Q8TE56

    13. XM_017021981.2 → XP_016877470.1  A disintegrin and metalloproteinase with thrombospondin motifs 17 isoform X9

    14. XM_047432213.1 → XP_047288169.1  A disintegrin and metalloproteinase with thrombospondin motifs 17 isoform X10

    RNA

    1. XR_001751118.2 RNA Sequence

    2. XR_001751120.2 RNA Sequence

    3. XR_001751119.2 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060939.1 Alternate T2T-CHM13v2.0

      Range
      97727466..98099930 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054377416.1 → XP_054233391.1  A disintegrin and metalloproteinase with thrombospondin motifs 17 isoform X3

    2. XM_054377414.1 → XP_054233389.1  A disintegrin and metalloproteinase with thrombospondin motifs 17 isoform X1

    3. XM_054377418.1 → XP_054233393.1  A disintegrin and metalloproteinase with thrombospondin motifs 17 isoform X5

    4. XM_054377417.1 → XP_054233392.1  A disintegrin and metalloproteinase with thrombospondin motifs 17 isoform X4

    5. XM_054377420.1 → XP_054233395.1  A disintegrin and metalloproteinase with thrombospondin motifs 17 isoform X14

    6. XM_054377424.1 → XP_054233399.1  A disintegrin and metalloproteinase with thrombospondin motifs 17 isoform X16

    7. XM_054377422.1 → XP_054233397.1  A disintegrin and metalloproteinase with thrombospondin motifs 17 isoform X15

    8. XM_054377419.1 → XP_054233394.1  A disintegrin and metalloproteinase with thrombospondin motifs 17 isoform X14

    9. XM_054377423.1 → XP_054233398.1  A disintegrin and metalloproteinase with thrombospondin motifs 17 isoform X16

    10. XM_054377421.1 → XP_054233396.1  A disintegrin and metalloproteinase with thrombospondin motifs 17 isoform X15

    11. XM_054377425.1 → XP_054233400.1  A disintegrin and metalloproteinase with thrombospondin motifs 17 isoform X16

    12. XM_054377428.1 → XP_054233403.1  A disintegrin and metalloproteinase with thrombospondin motifs 17 isoform X8

    13. XM_054377427.1 → XP_054233402.1  A disintegrin and metalloproteinase with thrombospondin motifs 17 isoform X7

    14. XM_054377429.1 → XP_054233404.1  A disintegrin and metalloproteinase with thrombospondin motifs 17 isoform X8

    15. XM_054377432.1 → XP_054233407.1  A disintegrin and metalloproteinase with thrombospondin motifs 17 isoform X11

    16. XM_054377433.1 → XP_054233408.1  A disintegrin and metalloproteinase with thrombospondin motifs 17 isoform X12

    17. XM_054377415.1 → XP_054233390.1  A disintegrin and metalloproteinase with thrombospondin motifs 17 isoform X2

    18. XM_054377426.1 → XP_054233401.1  A disintegrin and metalloproteinase with thrombospondin motifs 17 isoform X6

    19. XM_054377430.1 → XP_054233405.1  A disintegrin and metalloproteinase with thrombospondin motifs 17 isoform X9

    20. XM_054377431.1 → XP_054233406.1  A disintegrin and metalloproteinase with thrombospondin motifs 17 isoform X10

    RNA

    1. XR_008488926.1 RNA Sequence

    2. XR_008488928.1 RNA Sequence

    3. XR_008488927.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8TE56.2 GenPept UniProtKB/Swiss-Prot:Q8TE56

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