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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
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Genomic context

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See ADAMTS17 in Genome Data Viewer
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

Expression

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  • Project title: 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. 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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