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    ADAMTS6 ADAM metallopeptidase with thrombospondin type 1 motif 6 [ Homo sapiens (human) ]

    Gene ID: 11174, updated on 27-Nov-2024

    Summary

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    Official Symbol
    ADAMTS6provided by HGNC
    Official Full Name
    ADAM metallopeptidase with thrombospondin type 1 motif 6provided by HGNC
    Primary source
    HGNC:HGNC:222
    See related
    Ensembl:ENSG00000049192 MIM:605008; AllianceGenome:HGNC:222
    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
    ADAM-TS6; ADAMTS-6; ADAM-TS 6
    Summary
    This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. Members of the family 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 enzyme. Expression of this gene may be regulated by the cytokine TNF-alpha. [provided by RefSeq, Mar 2016]
    Expression
    Broad expression in placenta (RPKM 1.3), gall bladder (RPKM 1.1) and 19 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See ADAMTS6 in Genome Data Viewer
    Location:
    5q12.3
    Exon count:
    31
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (65148738..65481920, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (65968856..66303685, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (64444565..64777747, complement)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene MED14-independent group 3 enhancer GRCh37_chr5:64063900-64065099 Neighboring gene MPRA-validated peak5266 silencer Neighboring gene CWC27 spliceosome associated cyclophilin Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:64235623-64236166 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:64236167-64236709 Neighboring gene MPRA-validated peak5267 silencer Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr5:64327460-64328659 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:64331341-64331857 Neighboring gene Sharpr-MPRA regulatory region 13369 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22601 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22602 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22603 Neighboring gene uncharacterized LOC107986419 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:64398817-64399317 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:64398316-64398816 Neighboring gene ribosomal protein L5 pseudogene Neighboring gene ribulose-5-phosphate-3-epimerase pseudogene 1 Neighboring gene ribosomal protein S2 pseudogene 23 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:64777627-64778126 Neighboring gene uncharacterized LOC124900986 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:64780998-64781506 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:64781507-64782013 Neighboring gene MPRA-validated peak5269 silencer Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:64855281-64855780 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:64858250-64858911 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:64858912-64859572 Neighboring gene centromere protein K

    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. Analysis of full length ADAMTS6 transcript reveals alternative splicing and a role for the 5' untranslated region in translational control. Bevitt DJ, et al. Gene, 2005 Oct 10. PMID 16129570
    2. Identified a disintegrin and metalloproteinase with thrombospondin motifs 6 serve as a novel gastric cancer prognostic biomarker by bioinformatics analysis. Zhu YZ, et al. Biosci Rep, 2021 Apr 30. PMID 33851708, Free PMC Article
    3. Exome-chip meta-analysis identifies novel loci associated with cardiac conduction, including ADAMTS6. Prins BP, et al. Genome Biol, 2018 Jul 17. PMID 30012220, Free PMC Article
    4. ADAMTS-6 is a predictor of poor prognosis in patients with esophageal squamous cell carcinoma. Liu L, et al. Exp Mol Pathol, 2018 Apr. PMID 29475036
    5. The role of ADAMTS6 and ADAMTS17 polymorphisms in susceptibility to lumbar disc herniation in Chinese Han population. Han P, et al. Eur Spine J, 2023 Apr. PMID 36810712

    See all (30) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. 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.
    2. Identified a disintegrin and metalloproteinase with thrombospondin motifs 6 serve as a novel gastric cancer prognostic biomarker by bioinformatics analysis.
      Title: Identified a disintegrin and metalloproteinase with thrombospondin motifs 6 serve as a novel gastric cancer prognostic biomarker by bioinformatics analysis.
    3. Exome-chip meta-analysis identifies novel loci associated with cardiac conduction, including ADAMTS6.
      Title: Exome-chip meta-analysis identifies novel loci associated with cardiac conduction, including ADAMTS6.
    4. High ADAMTS-6 expression is a marker of poor prognosis in patients with esophageal squamous cell carcinoma.
      Title: ADAMTS-6 is a predictor of poor prognosis in patients with esophageal squamous cell carcinoma.
    5. Using siRNA, over-expression and mutagenesis, it was found ADAMTS6 inhibits and ADAMTS10 is required for focal adhesions, epithelial cell-cell junction formation, and microfibril deposition.
      Title: ADAMTS-10 and -6 differentially regulate cell-cell junctions and focal adhesions.
    6. ADAMTS6 inhibits breast tumor development by regulating the ERK pathway via binding of miR-221-3p
      Title: ADAMTS6 suppresses tumor progression via the ERK signaling pathway and serves as a prognostic marker in human breast cancer.
    7. Novel inguinal hernia susceptibility genes are identified as EFEMP1, WT1, EBF2 and ADAMTS6.
      Title: A genome-wide association study identifies four novel susceptibility loci underlying inguinal hernia.
    8. 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.
    9. The gain of function studies indicated that ADAM metallopeptidase with thrombospondin type 1 motif 6 activate NR5A1 gene expression.
      Title: Identification of NR5A1 (SF-1/AD4BP) gene expression modulators by large-scale gain and loss of function studies.
    10. Study shows that the ADAMTS6 transcript contains unusually large untranslated regions (UTRs) at both the 5' and 3'end, and the 5'UTR contains 11 AUG codons upstream of the predicted ADAMTS6 start codon.
      Title: Analysis of full length ADAMTS6 transcript reveals alternative splicing and a role for the 5' untranslated region in translational control.
    Submit: New GeneRIF Correction

    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 meta-analysis identifies novel loci associated with schizophrenia and bipolar disorder.
    EBI GWAS Catalog
    Genome-wide association analyses identify multiple loci associated with central corneal thickness and keratoconus.
    EBI GWAS Catalog
    Genome-wide association study identifies two susceptibility loci for osteosarcoma.
    EBI GWAS Catalog
    Genome-wide association study of clinical dimensions of schizophrenia: polygenic effect on disorganized symptoms.
    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

    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
    		  
    enables metallopeptidase activity TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in aorta development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in cardiac septum development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in coronary vasculature development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in extracellular matrix organization IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in kidney development 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
    		  
    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 6
    Names
    a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 6

    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_197941.4 → NP_922932.2  A disintegrin and metalloproteinase with thrombospondin motifs 6 preproprotein

      See identical proteins and their annotated locations for NP_922932.2

      Status: REVIEWED

      Source sequence(s)
      AY692422, AY692423, AY692424, AY692426
      Consensus CDS
      CCDS3983.2
      UniProtKB/Swiss-Prot
      Q59EX6, Q5IR87, Q5IR88, Q5IR89, Q68DL1, Q9UKP5
      Related
      ENSP00000370443.3, ENST00000381055.8
      Conserved Domains (6) summary
      smart00209
      Location:561 → 613
      TSP1; Thrombospondin type 1 repeats
      cd04273
      Location:250 → 465
      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:250 → 468
      Reprolysin; Reprolysin (M12B) family zinc metalloprotease
      pfam01562
      Location:69 → 190
      Pep_M12B_propep; Reprolysin family propeptide
      pfam05986
      Location:719 → 829
      ADAM_spacer1; ADAM-TS Spacer 1
      pfam08686
      Location:1083 → 1115
      PLAC; PLAC (protease and lacunin) domain

    RNA

    1. NR_135689.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AB209685, AY692422, AY692423, AY692424
      Related
      ENST00000381052.8

    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
      65148738..65481920 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011543117.3 → XP_011541419.1  A disintegrin and metalloproteinase with thrombospondin motifs 6 isoform X3

      Conserved Domains (6) summary
      smart00209
      Location:410 → 462
      TSP1; Thrombospondin type 1 repeats
      cd04273
      Location:99 → 314
      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:99 → 317
      Reprolysin; Reprolysin (M12B) family zinc metalloprotease
      pfam01562
      Location:4 → 39
      Pep_M12B_propep; Reprolysin family propeptide
      pfam05986
      Location:568 → 678
      ADAM_spacer1; ADAM-TS Spacer 1
      pfam08686
      Location:932 → 964
      PLAC; PLAC (protease and lacunin) domain

    2. XM_011543113.4 → XP_011541415.1  A disintegrin and metalloproteinase with thrombospondin motifs 6 isoform X1

      See identical proteins and their annotated locations for XP_011541415.1

      UniProtKB/Swiss-Prot
      Q59EX6, Q5IR87, Q5IR88, Q5IR89, Q68DL1, Q9UKP5
      Conserved Domains (6) summary
      smart00209
      Location:561 → 613
      TSP1; Thrombospondin type 1 repeats
      cd04273
      Location:250 → 465
      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:250 → 468
      Reprolysin; Reprolysin (M12B) family zinc metalloprotease
      pfam01562
      Location:69 → 190
      Pep_M12B_propep; Reprolysin family propeptide
      pfam05986
      Location:719 → 829
      ADAM_spacer1; ADAM-TS Spacer 1
      pfam08686
      Location:1083 → 1115
      PLAC; PLAC (protease and lacunin) domain

    3. XM_047416675.1 → XP_047272631.1  A disintegrin and metalloproteinase with thrombospondin motifs 6 isoform X2

    4. XM_011543114.4 → XP_011541416.1  A disintegrin and metalloproteinase with thrombospondin motifs 6 isoform X1

      See identical proteins and their annotated locations for XP_011541416.1

      UniProtKB/Swiss-Prot
      Q59EX6, Q5IR87, Q5IR88, Q5IR89, Q68DL1, Q9UKP5
      Conserved Domains (6) summary
      smart00209
      Location:561 → 613
      TSP1; Thrombospondin type 1 repeats
      cd04273
      Location:250 → 465
      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:250 → 468
      Reprolysin; Reprolysin (M12B) family zinc metalloprotease
      pfam01562
      Location:69 → 190
      Pep_M12B_propep; Reprolysin family propeptide
      pfam05986
      Location:719 → 829
      ADAM_spacer1; ADAM-TS Spacer 1
      pfam08686
      Location:1083 → 1115
      PLAC; PLAC (protease and lacunin) domain

    5. XM_011543121.3 → XP_011541423.3  A disintegrin and metalloproteinase with thrombospondin motifs 6 isoform X5

    6. XM_011543123.3 → XP_011541425.1  A disintegrin and metalloproteinase with thrombospondin motifs 6 isoform X7

      Conserved Domains (4) summary
      smart00209
      Location:182 → 234
      TSP1; Thrombospondin type 1 repeats
      pfam05986
      Location:340 → 450
      ADAM_spacer1; ADAM-TS Spacer 1
      pfam08686
      Location:704 → 736
      PLAC; PLAC (protease and lacunin) domain
      cl00064
      Location:1 → 86
      ZnMc; Zinc-dependent metalloprotease. This super-family of metalloproteases contains two major branches, the astacin-like proteases and the adamalysin/reprolysin-like proteases. Both branches have wide phylogenetic distribution, and contain sub-families, which ...

    7. XM_011543125.2 → XP_011541427.1  A disintegrin and metalloproteinase with thrombospondin motifs 6 isoform X9

      Conserved Domains (3) summary
      smart00209
      Location:417 → 471
      TSP1; Thrombospondin type 1 repeats
      pfam05986
      Location:230 → 340
      ADAM_spacer1; ADAM-TS Spacer 1
      pfam08686
      Location:594 → 626
      PLAC; PLAC (protease and lacunin) domain

    8. XM_011543124.3 → XP_011541426.1  A disintegrin and metalloproteinase with thrombospondin motifs 6 isoform X8

      Conserved Domains (3) summary
      smart00209
      Location:117 → 169
      TSP1; Thrombospondin type 1 repeats
      pfam05986
      Location:275 → 385
      ADAM_spacer1; ADAM-TS Spacer 1
      pfam08686
      Location:639 → 671
      PLAC; PLAC (protease and lacunin) domain

    9. XM_047416676.1 → XP_047272632.1  A disintegrin and metalloproteinase with thrombospondin motifs 6 isoform X4

    10. XM_047416677.1 → XP_047272633.1  A disintegrin and metalloproteinase with thrombospondin motifs 6 isoform X6

      Related
      ENST00000464680.6

    11. XM_047416678.1 → XP_047272634.1  A disintegrin and metalloproteinase with thrombospondin motifs 6 isoform X10

    RNA

    1. XR_007058575.1 RNA Sequence

    2. XR_007058576.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060929.1 Alternate T2T-CHM13v2.0

      Range
      65968856..66303685 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054351520.1 → XP_054207495.1  A disintegrin and metalloproteinase with thrombospondin motifs 6 isoform X1

      UniProtKB/Swiss-Prot
      Q59EX6, Q5IR87, Q5IR88, Q5IR89, Q68DL1, Q9UKP5

    2. XM_054351521.1 → XP_054207496.1  A disintegrin and metalloproteinase with thrombospondin motifs 6 isoform X2

    3. XM_054351519.1 → XP_054207494.1  A disintegrin and metalloproteinase with thrombospondin motifs 6 isoform X1

      UniProtKB/Swiss-Prot
      Q59EX6, Q5IR87, Q5IR88, Q5IR89, Q68DL1, Q9UKP5

    4. XM_054351523.1 → XP_054207498.1  A disintegrin and metalloproteinase with thrombospondin motifs 6 isoform X5

    5. XM_054351525.1 → XP_054207500.1  A disintegrin and metalloproteinase with thrombospondin motifs 6 isoform X7

    6. XM_054351527.1 → XP_054207502.1  A disintegrin and metalloproteinase with thrombospondin motifs 6 isoform X9

    7. XM_054351526.1 → XP_054207501.1  A disintegrin and metalloproteinase with thrombospondin motifs 6 isoform X8

    8. XM_054351522.1 → XP_054207497.1  A disintegrin and metalloproteinase with thrombospondin motifs 6 isoform X4

    9. XM_054351524.1 → XP_054207499.1  A disintegrin and metalloproteinase with thrombospondin motifs 6 isoform X6

    10. XM_054351528.1 → XP_054207503.1  A disintegrin and metalloproteinase with thrombospondin motifs 6 isoform X10

    RNA

    1. XR_008487076.1 RNA Sequence

    2. XR_008487077.1 RNA Sequence

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_014273.2: Suppressed sequence

      Description
      NM_014273.2: This RefSeq record was removed by NCBI staff. Contact [email protected] for further information.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9UKP5.2 GenPept UniProtKB/Swiss-Prot:Q9UKP5

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