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    ADAMTS16 ADAM metallopeptidase with thrombospondin type 1 motif 16 [ Homo sapiens (human) ]

    Gene ID: 170690, updated on 10-Dec-2024

    Summary

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    Official Symbol
    ADAMTS16provided by HGNC
    Official Full Name
    ADAM metallopeptidase with thrombospondin type 1 motif 16provided by HGNC
    Primary source
    HGNC:HGNC:17108
    See related
    Ensembl:ENSG00000145536 MIM:607510; AllianceGenome:HGNC:17108
    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
    ADAMTS16s
    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 inhibit chondrosarcoma cell proliferation and migration. This gene may regulate blood pressure. [provided by RefSeq, May 2016]
    Expression
    Biased expression in ovary (RPKM 5.4), gall bladder (RPKM 4.3) and 8 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See ADAMTS16 in Genome Data Viewer
    Location:
    5p15.32
    Exon count:
    22
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (5140330..5320304)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (5067964..5247892)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (5140443..5320417)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene ADAMTS16 divergent transcript Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:5139649-5140215 Neighboring gene RN7SK pseudogene 73 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr5:5145575-5146774 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:5175316-5175816 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:5175817-5176317 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancers GRCh37_chr5:5179213-5179956 and GRCh37_chr5:5179957-5180699 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:5182558-5183381 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:5183382-5184206 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr5:5199611-5200127 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:5241793-5242294 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:5242295-5242794 Neighboring gene uncharacterized LOC101929200 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:5271408-5272068 Neighboring gene Sharpr-MPRA regulatory region 1512 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:5325702-5326669 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:5341091-5341592 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:5341593-5342092 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:5352015-5352515 Neighboring gene ALG3 pseudogene 1 Neighboring gene MT-CO1 pseudogene 30

    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. [Photochemotherapy of experimental tumors in animals using various photosensitizers]. König K, et al. Z Urol Nephrol, 1989 Nov. PMID 2618185
    2. Aberrant DNA methylation of ADAMTS16 in colorectal and other epithelial cancers. Kordowski F, et al. BMC Cancer, 2018 Aug 6. PMID 30081852, Free PMC Article
    3. The Investigation of a Disintegrin and Metalloproteinase with ThromboSpondin Motifs (ADAMTS) 1, 5 and 16 in Thoracic Aortic Aneurysms and Dissections. Güneş MF, et al. Clin Lab, 2016. PMID 27156333
    4. FSH stimulates the expression of the ADAMTS-16 protease in mature human ovarian follicles. Gao S, et al. Mol Hum Reprod, 2007 Jul. PMID 17519324
    5. Characterization and regulation of ADAMTS-16. Surridge AK, et al. Matrix Biol, 2009 Sep. PMID 19635554, Free PMC Article

    See all (22) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Extracellular Matrix Disorganization Caused by ADAMTS16 Deficiency Leads to Bicuspid Aortic Valve With Raphe Formation.
      Title: Extracellular Matrix Disorganization Caused by ADAMTS16 Deficiency Leads to Bicuspid Aortic Valve With Raphe Formation.
    2. Through a combination of sequencing studies on eighteen North Carolina macular dystrophy families, two novel overlapping duplications at the MCDR3 locus, in a gene desert downstream of IRX1 and upstream of ADAMTS16, have been reported.
      Title: Duplication events downstream of IRX1 cause North Carolina macular dystrophy at the MCDR3 locus.
    3. ADAMTS16 is novel gene with cancer-specific promoter hypermethylation in colorectal cancer, lung cancer and oral squamous cell carcinoma patients implicating ADAMTS16 as potential biomarker for these tumors.
      Title: Aberrant DNA methylation of ADAMTS16 in colorectal and other epithelial cancers.
    4. The pregnancy loss rate seems to be affected by both ADAMTS-3 and ADAMTS-16.
      Title: ADAMTS-3, -13, -16, and -19 levels in patients with habitual abortion.
    5. Epistasis between single nucleotide polymorphisms within the TSHB and ADAMTS16 genes may increase the risk of premature ovarian failure in Korean women.
      Title: Epistasis between polymorphisms in TSHB and ADAMTS16 is associated with premature ovarian failure.
    6. Data show that the expression of ADAMTS4, 9, 16 and was up-regulated during chondrogenesis, ADAMTS1 and 5 were down-regulated.
      Title: Regulation of aggrecanases from the ADAMTS family and aggrecan neoepitope formation during in vitro chondrogenesis of human mesenchymal stem cells.
    7. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    8. Results describe the distribution, regulation and function of human ADAMTS-16.
      Title: Characterization and regulation of ADAMTS-16.
    9. Blood pressure is associated with SNPs of ADAMTS16 in human.
      Title: Positional identification of variants of Adamts16 linked to inherited hypertension.
    10. These studies provide the first evidence that ADAMTS-16 is an active protease and suggest a physiological role of ADAMTS-16 in ovarian follicles, at least during the pre-ovulatory phase.
      Title: FSH stimulates the expression of the ADAMTS-16 protease in mature human ovarian follicles.
    Submit: New GeneRIF Correction See all GeneRIFs (11)

    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

    EBI GWAS Catalog

    Description
    A genome-wide scan for breast cancer risk haplotypes among African American women.
    EBI GWAS Catalog
    Genetic predictors of risk and resilience in psychiatric disorders: a cross-disorder genome-wide association study of functional impairment in major depressive disorder, bipolar disorder, and schizophrenia.
    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)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ16731

    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 branching involved in ureteric bud morphogenesis IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in extracellular matrix organization IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in male gamete generation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in proteolysis IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in proteolysis IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of cilium assembly IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of systemic arterial blood pressure 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 16
    Names
    ADAM-TS 16
    ADAM-TS16
    ADAMTS-16
    a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 16

    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.

    mRNA and Protein(s)

    1. NM_139056.4 → NP_620687.2  A disintegrin and metalloproteinase with thrombospondin motifs 16 preproprotein

      See identical proteins and their annotated locations for NP_620687.2

      Status: REVIEWED

      Source sequence(s)
      AB095949, AC091978, BQ774377, DQ266047
      Consensus CDS
      CCDS43299.1
      UniProtKB/Swiss-Prot
      C6G490, Q8IVE2, Q8TE57
      Related
      ENSP00000274181.7, ENST00000274181.7
      Conserved Domains (6) summary
      smart00209
      Location:589 → 641
      TSP1; Thrombospondin type 1 repeats
      cd04273
      Location:290 → 491
      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 ...
      pfam01421
      Location:292 → 495
      Reprolysin; Reprolysin (M12B) family zinc metalloprotease
      pfam01562
      Location:83 → 204
      Pep_M12B_propep; Reprolysin family propeptide
      pfam05986
      Location:746 → 858
      ADAM_spacer1; ADAM-TS Spacer 1
      pfam08686
      Location:1190 → 1220
      PLAC; PLAC (protease and lacunin) domain

    RNA

    1. NR_136935.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC091978, BQ774377, DQ266047

    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_000005.10 Reference GRCh38.p14 Primary Assembly

      Range
      5140330..5320304
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047416874.1 → XP_047272830.1  A disintegrin and metalloproteinase with thrombospondin motifs 16 isoform X1

    2. XM_047416875.1 → XP_047272831.1  A disintegrin and metalloproteinase with thrombospondin motifs 16 isoform X2

      UniProtKB/TrEMBL
      B3KXQ2
      Related
      ENST00000433402.2

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060929.1 Alternate T2T-CHM13v2.0

      Range
      5067964..5247892
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054351924.1 → XP_054207899.1  A disintegrin and metalloproteinase with thrombospondin motifs 16 isoform X1

    2. XM_054351925.1 → XP_054207900.1  A disintegrin and metalloproteinase with thrombospondin motifs 16 isoform X2

      UniProtKB/TrEMBL
      B3KXQ2
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8TE57.3 GenPept UniProtKB/Swiss-Prot:Q8TE57

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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