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ADAMTS19 Gene

protein-coding   GIFtS: 50
GCID: GC05P128824

ADAM Metallopeptidase With Thrombospondin Type 1 Motif,...

(Previous names: a disintegrin-like and metalloprotease (reprolysin type)...)
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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
ADAM Metallopeptidase With Thrombospondin Type 1 Motif, 191 2     ADAM-TS 192 3
A Disintegrin-Like And Metalloprotease (Reprolysin Type) With
Thrombospondin Type 1 Motif, 191 2
     A Disintegrin And Metalloproteinase With Thrombospondin Motifs 192
ADAM-TS192 3     EC 3.4.24.-3
ADAMTS-192 3     

External Ids:    HGNC: 171111   Entrez Gene: 1710192   Ensembl: ENSG000001458087   OMIM: 6075135   UniProtKB: Q8TE593   

Export aliases for ADAMTS19 gene to outside databases

Previous GC identifers: GC05P128337 GC05P129231 GC05P128826 GC05P128872 GC05P123989


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for ADAMTS19 Gene:
This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motif) 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 protein
encoded by this gene has high sequence similarity to the protein encoded by ADAMTS16, another family member.
(provided by RefSeq, Jul 2008)

GeneCards Summary for ADAMTS19 Gene:
ADAMTS19 (ADAM metallopeptidase with thrombospondin type 1 motif, 19) is a protein-coding gene. GO annotations related to this gene include metalloendopeptidase activity. An important paralog of this gene is ADAMTS17.




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000005.9  NC_018916.2  NT_034772.7  
Regulatory elements:
   Regulatory transcription factor binding sites in the ADAMTS19 gene promoter:
         E2F-3a   E2F-4   E2F-5   AML1a   E2F-2   RORalpha1   FOXC1   E2F   E2F-1   HFH-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidADAMTS19 promoter sequence
   Search Chromatin IP Primers for ADAMTS19

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ADAMTS19


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 5q23.3   Ensembl cytogenetic band:  5q23.3   HGNC cytogenetic band: 5q23.3

ADAMTS19 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ADAMTS19 gene location

GeneLoc information about chromosome 5         GeneLoc Exon Structure

GeneLoc location for GC05P128824:  view genomic region     (about GC identifiers)

Start:
128,795,958 bp from pter      End:
129,074,376 bp from pter
Size:
278,419 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: ATS19_HUMAN, Q8TE59 (See protein sequence)
Recommended Name: A disintegrin and metalloproteinase with thrombospondin motifs 19 precursor  
Size: 1207 amino acids; 134048 Da
Cofactor: Binds 1 zinc ion per subunit (By similarity)

Explore the universe of human proteins at neXtProt for ADAMTS19: NX_Q8TE59

Explore proteomics data for ADAMTS19 at MOPED

Post-translational modifications: 

  • The precursor is cleaved by a furin endopeptidase (By similarity)1
  • 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)1
  • Glycosylation2 at Asn260, Asn797, Asn907, Asn949, Asn1009
  • Modification sites at PhosphoSitePlus

  • See ADAMTS19 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_598377.3  
    ENSEMBL proteins: 
     ENSP00000274487   ENSP00000423537   ENSP00000422491  
    Reactome Protein details: Q8TE59

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    antibodies-online peptides for ADAMTS19

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    ADAMTS: ADAM metallopeptidases with thrombospondin type 1 motif

    IUPHAR Guide to PHARMACOLOGY protein family classification: ADAMTS19
    ADAMTS family

    Selected InterPro protein domains (see all 7):
     IPR000884 Thrombospondin_1_rpt
     IPR024079 MetalloPept_cat_dom
     IPR010909 PLAC
     IPR013273 Peptidase_M12B_ADAM-TS
     IPR010294 ADAM_spacer1

    Graphical View of Domain Structure for InterPro Entry Q8TE59

    ProtoNet protein and cluster: Q8TE59

    4 Blocks protein domains:
    IPB000884 Thrombospondin
    IPB001762 Disintegrin
    IPB002870 Metalloendopeptidase M12B
    IPB010294 ADAM-TS Spacer 1


    UniProtKB/Swiss-Prot: ATS19_HUMAN, Q8TE59
    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
    Similarity: Contains 1 disintegrin domain
    Similarity: Contains 1 peptidase M12B domain
    Similarity: Contains 1 PLAC domain
    Similarity: Contains 5 TSP type-1 domains


    Find genes that share domains with ADAMTS19           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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         Enzyme Number (IUBMB): EC 3.4.24.-1

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004222metalloendopeptidase activity IEA--
    GO:0008233peptidase activity ----
    GO:0008270zinc ion binding IEA--
         
    Find genes that share ontologies with ADAMTS19           About GenesLikeMe


    Phenotypes:
         1 MGI phenotypic allele for Adamts19 (no phenotypes)

    Find genes that share phenotypes with ADAMTS19           About GenesLikeMe

    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for ADAMTS19

    miRNA
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    hsa-miR-411* hsa-miR-124* hsa-miR-3685 hsa-miR-3194-5p hsa-miR-379* hsa-miR-3146 hsa-miR-29a hsa-miR-301a
    SwitchGear 3'UTR luciferase reporter plasmidADAMTS19 3' UTR sequence
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    ATS19_HUMAN, Q8TE59: Secreted, extracellular space, extracellular matrix (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus3
    plasma membrane3
    cytosol2
    extracellular2

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005578proteinaceous extracellular matrix IEA--
    GO:0031012extracellular matrix ----

    Find genes that share ontologies with ADAMTS19           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    Find genes that share SuperPaths with ADAMTS19           About GenesLikeMe

    Pathways by sourceSee SuperPaths
    Show all pathways


    1 Reactome Pathway for ADAMTS19
        O-glycosylation of TSR domain-containing proteins


        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for ADAMTS19
    Interactions:

        Search GeneGlobe Interaction Network for ADAMTS19

    Gene Ontology (GO): 1 biological process term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006508proteolysis ----

    Find genes that share ontologies with ADAMTS19           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for ADAMTS19 (ATS19)



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for ADAMTS19 gene: 
    NM_133638.3  

    Unigene Cluster for ADAMTS19:

    ADAM metallopeptidase with thrombospondin type 1 motif, 19
    Hs.23751  [show with all ESTs]
    Unigene Representative Sequence: NM_133638
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000274487(uc003kvb.1 uc003kvc.1 uc010jdh.1) ENST00000505791
    ENST00000502709 ENST00000509467
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    hsa-miR-411* hsa-miR-124* hsa-miR-3685 hsa-miR-3194-5p hsa-miR-379* hsa-miR-3146 hsa-miR-29a hsa-miR-301a
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    Additional mRNA sequence: 

    AJ311904.1 AK122622.1 AK128729.1 

    2 DOTS entries:

    DT.75153159  DT.100674509 

    8 AceView cDNA sequences:

    BV174619 NM_133638 AJ311904 AL523577 AK122622 AK128729 CR597547 BX371368 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    ADAMTS19 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TCACCCTTTG
    ADAMTS19 Expression
    About this image


    ADAMTS19 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 3) fully expand
     
     Ovary (Reproductive System)
             Secondary follicles
     
     Heart (Cardiovascular System)
             Atrioventricular Canal Cells Atrioventricular Canal
     
     Gut Tube (Gastrointestinal Tract)
             Foregut
    ADAMTS19 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ADAMTS19 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.23751

    UniProtKB/Swiss-Prot: ATS19_HUMAN, Q8TE59
    Tissue specificity: Expressed in fetal lung, but not in any adult tissues examined. Expression was detected in an
    osteosarcoma cDNA library

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of chordates.

    Orthologs for ADAMTS19 gene from Selected species (see all 7)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Adamts191 , 5 a disintegrin-like and metallopeptidase (reprolysin more1, 5 86.64(n)1
    87.8(a)1
      18 (33.78 cM)5
    2403221  NM_175506.31  NP_780715.11 
     588367645 
    chicken
    (Gallus gallus)
    Aves ADAMTS191 ADAM metallopeptidase with thrombospondin type 1 motif, more 77.95(n)
    81.42(a)
      415600  XM_413968.4  XP_413968.4 
    lizard
    (Anolis carolinensis)
    Reptilia ADAMTS196
    ADAM metallopeptidase with thrombospondin type 1 m...
    77(a)
    1 ↔ 1
    2(30600349-30740610)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia adamts191 ADAM metallopeptidase with thrombospondin type 1 motif, more 69.99(n)
    72.9(a)
      100494209  XM_002931724.2  XP_002931770.2 


    ENSEMBL Gene Tree for ADAMTS19 (if available)
    TreeFam Gene Tree for ADAMTS19 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for ADAMTS19 gene
    ADAMTS172  ADAMTS12  ADAMTS182  ADAMTS62  ADAMTS142  ADAMTS22  ADAMTS202  ADAMTS52  
    ADAMTS152  ADAMTS42  ADAMTS92  ADAMTS82  ADAMTS162  ADAMTS32  ADAMTS102  
    3 SIMAP similar genes for ADAMTS19 using alignment to 3 protein entries:     ATS19_HUMAN (see all proteins):
    ADAMTS17    ADAMTS13    ADAMTS18

    Find genes that share paralogs with ADAMTS19           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for ADAMTS19 (see all 5582)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 5 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0361544
    A breast cancer sample4--see VAR_0361542 L I mis40--------
    rs615406291,2
    C--124032805(+) CACAC-/AC    
       
    /ACAC
    CATTT
    1 -- int10--------
    rs45417011,2
    C,F--128794283(+) TTACTC/ACAGCA 1 -- us2k16Minor allele frequency- A:0.26WA CSA NA 246
    rs1859442311,2
    --128794309(+) GACAGA/C/GGTTTA 1 -- us2k10--------
    rs38531281,2
    C,F,A,H--128794337(-) GGTGAC/GTTTGT 1 -- us2k115Minor allele frequency- G:0.41NS EA WA CSA NA 1204
    rs1907141451,2
    --128794448(+) TCTGCC/TTCCCT 1 -- us2k10--------
    rs772140281,2
    --128794537(+) GGAATA/TAAAAA 1 -- us2k10--------
    rs2014742831,2
    C--128794537(+) AAAAA-/ACTGAT 1 -- us2k10--------
    rs732404581,2
    C,F--128794538(+) GAATTA/TAAAAA 1 -- us2k11Minor allele frequency- T:0.08WA 118
    rs1833861461,2
    --128794607(+) GCAAAC/TGGCAG 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for ADAMTS19 (128795958 - 129045958 bp, first 250kb of ADAMTS19)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for ADAMTS19 (see all 19):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2730770CNV Deletion23290073
    esv2730769CNV Deletion23290073
    esv2730771CNV Deletion23290073
    esv2663219CNV Deletion23128226
    esv2675613CNV Deletion23128226
    esv2664922CNV Deletion23128226
    esv2671546CNV Deletion23128226
    dgv1002e201CNV Deletion23290073
    nsv5000CNV Insertion18451855
    nsv830487CNV Loss17160897

    3 Site Specific Mutation Identification with PCR Assays for ADAMTS19:
    Cosmic IdAA Change
    138506p.R969*
    27204p.L360I
    108171p.R969Q
    SeqTarget long-range PCR primers for resequencing ADAMTS19
    DNA2.0 Custom Variant and Variant Library Synthesis for ADAMTS19

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 607513    OMIM disorders: --

    1 disease from the University of Copenhagen DISEASES database for ADAMTS19:
    Premature ovarian failure

    Find genes that share disorders with ADAMTS19           About GenesLikeMe

    Genetic Association Database (GAD): ADAMTS19
    Human Genome Epidemiology (HuGE) Navigator: ADAMTS19 (1 document)

    Export disorders for ADAMTS19 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for ADAMTS19 gene integrated from 10 sources:
    (articles sorted by number of sources associating them with ADAMTS19)
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    world of online information

    1. Cloning, expression analysis, and structural characterization of seven novel human ADAMTSs, a family of metalloproteinases with disintegrin and thrombospondin-1 domains. (PubMed id 11867212)1, 2, 3 Cal S....Lopez-Otin C. (Gene 2002)
    2. Genome-wide association study of SSRI/SNRI-induced sexual dysfunction in a Japanese cohort with major depression. (PubMed id 22445761)1, 4 Kurose K....Saito Y. (Psychiatry Res 2012)
    3. Genome-wide association study in premature ovarian failure patients suggests ADAMTS19 as a possible candidate gene. (PubMed id 19508998)1, 4 Knauff E.A....Fauser B.C. (Hum. Reprod. 2009)
    4. Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. (PubMed id 23251661)1 Comuzzie A.G....Butte N.F. (PLoS ONE 2012)
    5. The consensus coding sequences of human breast and colorectal cancers. (PubMed id 16959974)2 Sjoeblom T.... Velculescu V.E. (Science 2006)
    6. The DNA sequence and comparative analysis of human chromosome 5. (PubMed id 15372022)2 Schmutz J.... Rubin E.M. (Nature 2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 171019 HGNC: 17111 AceView: ADAMTS19 Ensembl:ENSG00000145808 euGenes: HUgn171019
    ECgene: ADAMTS19 H-InvDB: ADAMTS19

    (According to HUGE)
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    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for ADAMTS19 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
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    IP news from LifeMap Sciences, Inc.)
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    Patent Information for ADAMTS19 gene:
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