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

Gene ID: 170691, updated on 11-Jun-2021

Summary

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
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

See ADAMTS17 in Genome Data Viewer
Location:
15q26.3
Exon count:
32
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 15 NC_000015.10 (99971437..100342924, complement)
105.20201022 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 RNA, 7SL, cytoplasmic 484, pseudogene Neighboring gene ubiquitin conjugating enzyme E2 Q2 pseudogene Neighboring gene dynamin 1 pseudogene 46 Neighboring gene uncharacterized LOC105371022 Neighboring gene Sharpr-MPRA regulatory region 8829 Neighboring gene RNA, 5S ribosomal pseudogene 402 Neighboring gene uncharacterized LOC107984740 Neighboring gene uncharacterized LOC105371021 Neighboring gene spermatogenesis associated 41 Neighboring gene CERS3 antisense RNA 1 Neighboring gene ceramide synthase 3

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Genome-wide association study identifies two susceptibility loci for osteosarcoma.
GeneReviews: Not available
Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.
GeneReviews: Not available
Hundreds of variants clustered in genomic loci and biological pathways affect human height.
GeneReviews: Not available
Many sequence variants affecting diversity of adult human height.
GeneReviews: Not available
Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.
GeneReviews: Not available
Weill-Marchesani syndrome 4
MedGen: C2750787 OMIM: 613195 GeneReviews: Weill-Marchesani Syndrome
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Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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
PubMed 
Process Evidence Code Pubs
involved_in extracellular matrix organization IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
PubMed 
located_in extracellular region IEA
Inferred from Electronic Annotation
more info
 

General protein information

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_139057.4NP_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
    Q8TE56
    Related
    ENSP00000268070.4, ENST00000268070.9
    Conserved Domains (7) summary
    smart00209
    Location:546598
    TSP1; Thrombospondin type 1 repeats
    cd04273
    Location:232449
    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:868921
    TSP_1; Thrombospondin type 1 domain
    pfam01421
    Location:232449
    Reprolysin; Reprolysin (M12B) family zinc metalloprotease
    pfam01562
    Location:81180
    Pep_M12B_propep; Reprolysin family propeptide
    pfam05986
    Location:713783
    ADAM_spacer1; ADAM-TS Spacer 1
    pfam08686
    Location:10551081
    PLAC; PLAC (protease and lacunin) domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000015.10 Reference GRCh38.p13 Primary Assembly

    Range
    99971437..100342924 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017021973.2XP_016877462.1  A disintegrin and metalloproteinase with thrombospondin motifs 17 isoform X1

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

  3. XM_005254872.3XP_005254929.1  A disintegrin and metalloproteinase with thrombospondin motifs 17 isoform X5

    Related
    ENSP00000456161.2, ENST00000568565.2
    Conserved Domains (7) summary
    smart00209
    Location:546598
    TSP1; Thrombospondin type 1 repeats
    cd04273
    Location:232449
    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:895948
    TSP_1; Thrombospondin type 1 domain
    pfam01421
    Location:232449
    Reprolysin; Reprolysin (M12B) family zinc metalloprotease
    pfam01562
    Location:81180
    Pep_M12B_propep; Reprolysin family propeptide
    pfam05986
    Location:702810
    ADAM_spacer1; ADAM-TS Spacer 1
    pfam08686
    Location:10821108
    PLAC; PLAC (protease and lacunin) domain
  4. XM_011521312.2XP_011519614.1  A disintegrin and metalloproteinase with thrombospondin motifs 17 isoform X4

    Conserved Domains (7) summary
    smart00209
    Location:546598
    TSP1; Thrombospondin type 1 repeats
    cd04273
    Location:232449
    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:918971
    TSP_1; Thrombospondin type 1 domain
    pfam01421
    Location:232449
    Reprolysin; Reprolysin (M12B) family zinc metalloprotease
    pfam01562
    Location:81180
    Pep_M12B_propep; Reprolysin family propeptide
    pfam05986
    Location:737833
    ADAM_spacer1; ADAM-TS Spacer 1
    pfam08686
    Location:11051131
    PLAC; PLAC (protease and lacunin) domain
  5. XM_017021976.1XP_016877465.1  A disintegrin and metalloproteinase with thrombospondin motifs 17 isoform X6

  6. XM_017021979.1XP_016877468.1  A disintegrin and metalloproteinase with thrombospondin motifs 17 isoform X9

  7. XM_017021978.1XP_016877467.1  A disintegrin and metalloproteinase with thrombospondin motifs 17 isoform X8

  8. XM_017021980.1XP_016877469.1  A disintegrin and metalloproteinase with thrombospondin motifs 17 isoform X9

  9. XM_017021983.1XP_016877472.1  A disintegrin and metalloproteinase with thrombospondin motifs 17 isoform X12

  10. XM_017021982.1XP_016877471.1  A disintegrin and metalloproteinase with thrombospondin motifs 17 isoform X11

  11. XM_017021974.1XP_016877463.1  A disintegrin and metalloproteinase with thrombospondin motifs 17 isoform X2

  12. XM_017021977.1XP_016877466.1  A disintegrin and metalloproteinase with thrombospondin motifs 17 isoform X7

  13. XM_017021984.1XP_016877473.1  A disintegrin and metalloproteinase with thrombospondin motifs 17 isoform X13

    UniProtKB/Swiss-Prot
    Q8TE56
  14. XM_017021981.1XP_016877470.1  A disintegrin and metalloproteinase with thrombospondin motifs 17 isoform X10

RNA

  1. XR_001751118.1 RNA Sequence

  2. XR_001751119.1 RNA Sequence

  3. XR_001751120.1 RNA Sequence

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