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Aliases for ADAMTS17 Gene

Aliases for ADAMTS17 Gene

  • ADAM Metallopeptidase With Thrombospondin Type 1 Motif 17 2 3 5
  • A Disintegrin-Like And Metalloprotease (Reprolysin Type) With Thrombospondin Type 1 Motif, 17 2
  • EC 3.4.24.82 63
  • EC 3.4.24.80 63
  • EC 3.4.24.- 4
  • ADAM-TS 17 4
  • ADAM-TS17 4
  • ADAMTS-17 4
  • EC 3.4.24 63

External Ids for ADAMTS17 Gene

Previous GeneCards Identifiers for ADAMTS17 Gene

  • GC15M097199
  • GC15M094354
  • GC15M098105
  • GC15M098249
  • GC15M098332
  • GC15M100511
  • GC15M076635

Summaries for ADAMTS17 Gene

Entrez Gene Summary for ADAMTS17 Gene

  • 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 protein encoded by this gene has a high sequence similarity to the protein encoded by ADAMTS19, another family member. The function of this protein has not been determined. [provided by RefSeq, Jul 2008]

GeneCards Summary for ADAMTS17 Gene

ADAMTS17 (ADAM Metallopeptidase With Thrombospondin Type 1 Motif 17) is a Protein Coding gene. Diseases associated with ADAMTS17 include weill-marchesani-like syndrome and weill-marchesani syndrome. Among its related pathways are O-linked glycosylation and Transport to the Golgi and subsequent modification. GO annotations related to this gene include peptidase activity and metalloendopeptidase activity. An important paralog of this gene is ADAMTS20.

No data available for UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ADAMTS17 Gene

Genomics for ADAMTS17 Gene

Regulatory Elements for ADAMTS17 Gene

Promoters for ADAMTS17 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around ADAMTS17 on UCSC Golden Path with GeneCards custom track

Genomic Location for ADAMTS17 Gene

Chromosome:
15
Start:
99,971,438 bp from pter
End:
100,342,087 bp from pter
Size:
370,650 bases
Orientation:
Minus strand

Genomic View for ADAMTS17 Gene

Genes around ADAMTS17 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ADAMTS17 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ADAMTS17 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ADAMTS17 Gene

Proteins for ADAMTS17 Gene

  • Protein details for ADAMTS17 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8TE56-ATS17_HUMAN
    Recommended name:
    A disintegrin and metalloproteinase with thrombospondin motifs 17
    Protein Accession:
    Q8TE56
    Secondary Accessions:
    • Q2I7G4
    • Q6ZN75

    Protein attributes for ADAMTS17 Gene

    Size:
    1095 amino acids
    Molecular mass:
    121127 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for ADAMTS17 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ADAMTS17 Gene

Proteomics data for ADAMTS17 Gene at MOPED

Selected DME Specific Peptides for ADAMTS17 Gene

Post-translational modifications for ADAMTS17 Gene

  • Glycosylated. Can be O-fucosylated by POFUT2 on a serine or a threonine residue found within the consensus sequence C1-X(2)-(S/T)-C2-G of the TSP type-1 repeat domains where C1 and C2 are the first and second cysteine residue of the repeat, respectively. Fucosylated repeats can then be further glycosylated by the addition of a beta-1,3-glucose residue by the glucosyltransferase, B3GALTL. Fucosylation mediates the efficient secretion of ADAMTS family members. Also can be C-glycosylated with one or two mannose molecules on tryptophan residues within the consensus sequence W-X-X-W of the TPRs, and N-glycosylated. These other glycosylations can also facilitate secretion (By similarity).
  • The precursor is cleaved by a furin endopeptidase.
  • Glycosylation at Asn 167, Asn 483, Asn 785, Asn 790, Asn 832, Asn 839, and Asn 894
  • Modification sites at PhosphoSitePlus

Other Protein References for ADAMTS17 Gene

Domains & Families for ADAMTS17 Gene

Gene Families for ADAMTS17 Gene

Suggested Antigen Peptide Sequences for ADAMTS17 Gene

Graphical View of Domain Structure for InterPro Entry

Q8TE56

UniProtKB/Swiss-Prot:

ATS17_HUMAN :
  • The conserved cysteine present in the cysteine-switch motif binds the catalytic zinc ion, thus inhibiting the enzyme. The dissociation of the cysteine from the zinc ion upon the activation-peptide release activates the enzyme.
Domain:
  • The conserved cysteine present in the cysteine-switch motif binds the catalytic zinc ion, thus inhibiting the enzyme. The dissociation of the cysteine from the zinc ion upon the activation-peptide release activates the enzyme.
  • Contains 1 disintegrin domain.
  • Contains 1 peptidase M12B domain.
  • Contains 1 PLAC domain.
  • Contains 5 TSP type-1 domains.
genes like me logo Genes that share domains with ADAMTS17: view

Function for ADAMTS17 Gene

Enzyme Numbers (IUBMB) for ADAMTS17 Gene

Gene Ontology (GO) - Molecular Function for ADAMTS17 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008233 peptidase activity IEA --
genes like me logo Genes that share ontologies with ADAMTS17: view
genes like me logo Genes that share phenotypes with ADAMTS17: view

Human Phenotype Ontology for ADAMTS17 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

  • Taconic Biosciences Mouse Models for ADAMTS17

No data available for Molecular function , Animal Models , Transcription Factor Targets and HOMER Transcription for ADAMTS17 Gene

Localization for ADAMTS17 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ADAMTS17 Gene

Secreted, extracellular space, extracellular matrix.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ADAMTS17 Gene COMPARTMENTS Subcellular localization image for ADAMTS17 gene
Compartment Confidence
extracellular 4
plasma membrane 3
endoplasmic reticulum 1
nucleus 1

No data available for Gene Ontology (GO) - Cellular Components for ADAMTS17 Gene

Pathways & Interactions for ADAMTS17 Gene

genes like me logo Genes that share pathways with ADAMTS17: view

Pathways by source for ADAMTS17 Gene

Interacting Proteins for ADAMTS17 Gene

STRING Interaction Network Preview (showing 1 interactants - click image to see details)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000268070%0d%0a9606.ENSP00000268171%0d%0a
Selected Interacting proteins: ENSP00000268070 for ADAMTS17 Gene via STRING

Symbol External ID(s) Details
FURIN

Gene Ontology (GO) - Biological Process for ADAMTS17 Gene

None

No data available for SIGNOR curated interactions for ADAMTS17 Gene

Drugs & Compounds for ADAMTS17 Gene

No Compound Related Data Available

Transcripts for ADAMTS17 Gene

Unigene Clusters for ADAMTS17 Gene

ADAM metallopeptidase with thrombospondin type 1 motif, 17:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for ADAMTS17 Gene

No ASD Table

Relevant External Links for ADAMTS17 Gene

GeneLoc Exon Structure for
ADAMTS17
ECgene alternative splicing isoforms for
ADAMTS17

Expression for ADAMTS17 Gene

mRNA expression in normal human tissues for ADAMTS17 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ADAMTS17 Gene

This gene is overexpressed in Muscle - Skeletal (x5.6) and Liver (x5.3).

Protein differential expression in normal tissues from HIPED for ADAMTS17 Gene

This gene is overexpressed in Esophagus (37.1) and Plasma (31.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for ADAMTS17 Gene



SOURCE GeneReport for Unigene cluster for ADAMTS17 Gene Hs.513200

mRNA Expression by UniProt/SwissProt for ADAMTS17 Gene

Q8TE56-ATS17_HUMAN
Tissue specificity: Isoform 1 and isoform 2 are expressed at high levels in the lung, brain, whole eye and retina. Isoform 1 shows a weaker expression in the heart, kidney and skeletal muscle. Isoform 2 shows a weaker expression in the kidney, bone marrow and skeletal muscle. Isoform 1 and isoform 2 are expressed at high levels in the fetal heart, kidney, and whole eye, whereas a weak expression is seen in the fetal liver.
genes like me logo Genes that share expression patterns with ADAMTS17: view

Protein tissue co-expression partners for ADAMTS17 Gene

Primer Products

In Situ Assay Products

Orthologs for ADAMTS17 Gene

This gene was present in the common ancestor of chordates.

Orthologs for ADAMTS17 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ADAMTS17 35
  • 99 (n)
  • 98.9 (a)
ADAMTS17 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia ADAMTS17 36
  • 93 (a)
OneToOne
ADAMTS17 35
  • 90.42 (n)
  • 94.47 (a)
dog
(Canis familiaris)
Mammalia ADAMTS17 35
  • 89.91 (n)
  • 94.4 (a)
ADAMTS17 36
  • 94 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Adamts17 16
Adamts17 36
  • 88 (a)
OneToOne
Adamts17 35
  • 86.23 (n)
  • 90.21 (a)
oppossum
(Monodelphis domestica)
Mammalia ADAMTS17 36
  • 78 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ADAMTS17 36
  • 83 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Adamts17 35
  • 86.75 (n)
  • 90.3 (a)
chicken
(Gallus gallus)
Aves ADAMTS17 35
  • 76.54 (n)
  • 82.11 (a)
ADAMTS17 36
  • 81 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ADAMTS17 36
  • 78 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia adamts17 35
  • 72.18 (n)
  • 77.89 (a)
zebrafish
(Danio rerio)
Actinopterygii ADAMTS17 36
  • 72 (a)
OneToOne
LOC101884120 35
  • 69.37 (n)
  • 72.38 (a)
Species with no ortholog for ADAMTS17:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for ADAMTS17 Gene

ENSEMBL:
Gene Tree for ADAMTS17 (if available)
TreeFam:
Gene Tree for ADAMTS17 (if available)

Paralogs for ADAMTS17 Gene

(3) SIMAP similar genes for ADAMTS17 Gene using alignment to 4 proteins:

genes like me logo Genes that share paralogs with ADAMTS17: view

Variants for ADAMTS17 Gene

Sequence variations from dbSNP and Humsavar for ADAMTS17 Gene

SNP ID Clin Chr 15 pos Sequence Context AA Info Type
rs7496668 - 100,281,371(+) CCCGC(A/G)AAGGC reference, missense
rs28567966 - 100,152,640(+) CATTC(A/G)TGCCA reference, missense
VAR_060317 -
VAR_064041 -
rs16843 -- 100,054,967(+) ACTCT(A/G)CAGTG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for ADAMTS17 Gene

Variant ID Type Subtype PubMed ID
nsv428313 CNV Gain 18775914
nsv904564 CNV Gain 21882294
dgv784e1 CNV Complex 17122850
nsv522419 CNV Loss 19592680
dgv332n27 CNV Gain 19166990
dgv333n27 CNV Gain 19166990
nsv471263 CNV Gain 18288195
nsv522834 CNV Gain 19592680
esv34620 CNV Gain 17911159
essv12016 CNV CNV 17122850
nsv817711 CNV Gain 17921354
nsv904566 CNV Loss 21882294
dgv2445n71 CNV Gain 21882294
nsv904570 CNV Loss 21882294
esv29151 CNV Loss 19812545
esv2656457 CNV Deletion 23128226
nsv529040 CNV Loss 19592680
nsv904571 CNV Gain 21882294
esv2609224 CNV Insertion 19546169
nsv833106 CNV Gain 17160897
esv1002402 CNV Gain 20482838
esv2470581 CNV Insertion 19546169
esv2650135 CNV Deletion 19546169
esv2750126 CNV Deletion 23290073
esv2058680 CNV Deletion 18987734
esv2750127 CNV Deletion 23290073
esv1039633 CNV Deletion 17803354
esv2673162 CNV Deletion 23128226
nsv528540 CNV Loss 19592680
esv2042603 CNV Deletion 18987734
esv2750128 CNV Deletion 23290073
nsv904572 CNV Gain 21882294
nsv1689 CNV Loss 18451855
nsv507798 CNV Insertion 20534489
esv2664256 CNV Deletion 23128226
dgv349e201 CNV Deletion 23290073
esv2659830 CNV Deletion 23128226
esv32990 CNV Gain 17666407
dgv2446n71 CNV Gain 21882294
dgv2447n71 CNV Gain 21882294
nsv457284 CNV Gain 19166990
nsv9305 CNV Gain 18304495
nsv904578 CNV Gain 21882294
esv23977 CNV Loss 19812545
nsv904581 CNV Gain 21882294
esv21445 CNV Loss 19812545
nsv471264 CNV Loss 18288195
nsv457286 CNV Loss 19166990
esv269199 CNV Insertion 20981092
esv272800 CNV Insertion 20981092
esv1711191 CNV Insertion 17803354
esv271213 CNV Insertion 20981092
esv274161 CNV Insertion 20981092
esv1330314 CNV Insertion 17803354
nsv521725 CNV Loss 19592680
esv1009964 CNV Loss 20482838
nsv471265 CNV Gain 18288195
nsv457287 CNV Gain 19166990
esv2750131 CNV Deletion 23290073
esv2750132 CNV Deletion 23290073
esv2750133 CNV Deletion 23290073

Variation tolerance for ADAMTS17 Gene

Residual Variation Intolerance Score: 29.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 11.98; 93.65% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ADAMTS17 Gene

HapMap Linkage Disequilibrium report
ADAMTS17
Human Gene Mutation Database (HGMD)
ADAMTS17

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ADAMTS17 Gene

Disorders for ADAMTS17 Gene

MalaCards: The human disease database

(7) MalaCards diseases for ADAMTS17 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
weill-marchesani-like syndrome
  • wmls
weill-marchesani syndrome
  • congenital mesodermal dystrophy
ichthyosis-short stature-brachydactyly-microspherophakia syndrome
  • 15q26.3 microdeletion syndrome
myopia
  • near vision
tracheal stenosis
  • stenosis of trachea
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

ATS17_HUMAN
  • Weill-Marchesani-like syndrome (WMLS) [MIM:613195]: A disorder characterized by many of the key features of Weill-Marchesani syndrome, including lenticular myopia, ectopia lentis, glaucoma, spherophakia and short stature. However, the characteristic brachydactyly or decreased joint flexibility of Weill-Marchesani syndrome are absent. {ECO:0000269 PubMed:19836009}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for ADAMTS17

Genetic Association Database (GAD)
ADAMTS17
Human Genome Epidemiology (HuGE) Navigator
ADAMTS17
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ADAMTS17
genes like me logo Genes that share disorders with ADAMTS17: view

No data available for Genatlas for ADAMTS17 Gene

Publications for ADAMTS17 Gene

  1. Cloning, expression analysis, and structural characterization of seven novel human ADAMTSs, a family of metalloproteinases with disintegrin and thrombospondin-1 domains. (PMID: 11867212) Cal S. … Lopez-Otin C. (Gene 2002) 2 3 4 67
  2. Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci. (PMID: 25429064) He M. … Qi L. (Hum. Mol. Genet. 2015) 3
  3. Whole exome sequencing identifies a novel splice-site mutation in ADAMTS17 in an Indian family with Weill-Marchesani syndrome. (PMID: 24940034) Shah M.H. … Kumar A. (Mol. Vis. 2014) 3
  4. Sp1 is necessary for gene activation of Adamts17 by estrogen. (PMID: 24906090) Jia Z. … Zhang H. (J. Cell. Biochem. 2014) 3
  5. Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture. (PMID: 23563607) Berndt S.I. … Ingelsson E. (Nat. Genet. 2013) 3

Products for ADAMTS17 Gene

Sources for ADAMTS17 Gene

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