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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

ADAMTSL3 Gene

protein-coding   GIFtS: 49
GCID: GC15P084322

ADAMTS-like 3

 Explore 8 diseases affiliated with
ADAMTSL3 via our new
 Human Malady Compendium 
Biological research products
for ADAMTSL3
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

Aliases
ADAMTS-Like 31 2     A Disintegrin-Like And Metalloprotease Domain With Thrombospondin Type I
Motifs-Like 32
KIAA12331 3 5     ADAMTS-Like Protein 32
Punctin-23     Punctin-23
ADAMTSL-32 3     

External Ids:    HGNC: 146331   Entrez Gene: 571882   Ensembl: ENSG000001562187   OMIM: 6091995   UniProtKB: P829873   
ORGUL members:         
NONCODE:n338085    

Export aliases for ADAMTSL3 gene to outside databases

Previous GC identifers: GC15P082043 GC15P082113 GC15P060587


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

  --

(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000015.9  NC_018926.1  NT_077661.3  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the ADAMTSL3 gene promoter:
         HFH-3   GR   AhR   Sp1   Nkx2-5   LCR-F1   Egr-4   C/EBPalpha   FOXI1   GR-alpha   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidADAMTSL3 promoter sequence
   Search SABiosciences Chromatin IP Primers for ADAMTSL3

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ADAMTSL3


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

Entrez Gene cytogenetic band: 15q25.2   Ensembl cytogenetic band:  15q25.2   HGNC cytogenetic band: 15q25.2

ADAMTSL3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ADAMTSL3 gene location

GeneLoc information about chromosome 15         GeneLoc Exon Structure

GeneLoc location for GC15P084322:  view genomic region     (about GC identifiers)

Start:
84,322,838 bp from pter      End:
84,708,594 bp from pter
Size:
385,757 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: ATL3_HUMAN, P82987 (See protein sequence)
Recommended Name: ADAMTS-like protein 3 precursor  
Size: 1691 amino acids; 188692 Da
Subcellular location: Secreted, extracellular space, extracellular matrix
Caution: Although strongly similar to members of the ADAMTS family it lacks the metalloprotease and disintegrin-like
domains which are typical of that family
Secondary accessions: A1A566 A1A567 Q9ULI7
Alternative splicing: 2 isoforms:  P82987-1   P82987-2   

Explore the universe of human proteins at neXtProt for ADAMTSL3: NX_P82987

Post-translational modifications:

  • Glycosylated (By similarity). 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
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P82987

  • ADAMTSL3 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_997400.2  
    ENSEMBL proteins: 
     ENSP00000286744   ENSP00000456313  

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    Uscn Proteins for ADAMTSL3

    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

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


    ADAMTSL3 for ontologies           About GeneDecksing



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    Uscn ELISAs and CLIAs for ADAMTSL3


    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    ADAMTSL3 for domains           About GeneDecksing

    5/8 InterPro domains/families (see all 8):
     IPR003598 Ig_sub2
     IPR000884 Thrombospondin_1_rpt
     IPR007110 Ig-like_dom
     IPR003599 Ig_sub
     IPR010909 PLAC

    Graphical View of Domain Structure for InterPro Entry P82987

    ProtoNet protein and cluster: P82987

    2 Blocks protein families:
    IPB003598 Immunoglobulin C-2 type
    IPB013098 Immunoglobulin I-set


    UniProtKB/Swiss-Prot: ATL3_HUMAN, P82987
    Similarity: Contains 3 Ig-like C2-type (immunoglobulin-like) domains
    Similarity: Contains 1 PLAC domain
    Similarity: Contains 10 TSP type-1 domains


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    miRNA
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    hsa-miR-520f hsa-miR-642a hsa-miR-193a-3p hsa-miR-300 hsa-miR-513a-5p hsa-miR-199a-3p hsa-miR-15a hsa-miR-25
    SwitchGear 3'UTR luciferase reporter plasmidADAMTSL3 3' UTR sequence
    Inhib. RNA
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    Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008237metallopeptidase activity IEA--
    GO:0008270zinc ion binding IEA--


    ADAMTSL3 for ontologies           About GeneDecksing


    1 GenomeRNAi human phenotype for ADAMTSL3:
     Increased gamma-H2AX phosphory 


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, 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 Mar 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for ADAMTSL3

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for ADAMTSL3
    Search CenterWatch for drugs/clinical trials and news about ADAMTSL3 / ATL3 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for ADAMTSL3 gene: 
    NM_207517.2  

    Unigene Cluster for ADAMTSL3:

    ADAMTS-like 3
    Hs.459162  [show with all ESTs]
    Unigene Representative Sequence: NM_207517
    8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000286744(uc002bjz.4) ENST00000567476 ENST00000569510(uc002bjy.1)
    ENST00000561483(uc010bmt.1) ENST00000565653 ENST00000567663 ENST00000562296
    ENST00000567716

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    8/57 QIAGEN miScript miRNA Assays for microRNAs that regulate ADAMTSL3 (see all 57):
    hsa-miR-520f hsa-miR-642a hsa-miR-193a-3p hsa-miR-300 hsa-miR-513a-5p hsa-miR-199a-3p hsa-miR-15a hsa-miR-25
    SwitchGear 3'UTR luciferase reporter plasmidADAMTSL3 3' UTR sequence
    Inhib. RNA
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    Additional cDNA sequence: 

    AB033059.1 AF237652.1 AK092324.1 AK308845.1 AL109723.1 AL109724.1 BC128389.1 BC128390.1 

    4 DOTS entries:

    DT.410933  DT.121015571  DT.100017164  DT.121015569 

    24/44 AceView cDNA sequences (see all 44):

    AB033059 AA029682 CR621245 BX481817 NM_207517 AL109724 AI174440 AA723257 
    CD673150 AI611758 BG750735 AX747482 CD515059 BX506348 W90396 BX455128 
    AW029535 W88505 AL109723 AA707140 BE646238 AK092324 N98222 AF237652 

    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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    ADAMTSL3 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: --

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image
    See ADAMTSL3 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for ADAMTSL3

    SOURCE GeneReport for Unigene cluster: Hs.459162

    UniProtKB/Swiss-Prot: ATL3_HUMAN, P82987
    Tissue specificity: Expressed in epithelial cells of the colon, fallopian tube, skin, breast, prostate, epididymis,
    liver, pancreatic islets and bile ducts, as well as by vascular endothelial cells, smooth muscle cells, fibroblasts,
    cortical and ganglionic neurons and cardiac myocytes. Also expressed by malignant epithelial cells in colon cancer, as
    well as breast, prostate, renal and skin tumors. Expression is significantly reduced in colon cancer compared to
    normal colon

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ADAMTSL3

    (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)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for ADAMTSL3 gene from 5/17 species (see all 17)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves ADAMTSL31 ADAMTS-like 3 67.75(n)
    65.87(a)
      415465  XM_413844.3  XP_413844.3 
    lizard
    (Anolis carolinensis)
    Reptilia ADAMTSL36
    --
    58(a)
    1 ↔ 1
    GL343740.1(66375-185596)
    zebrafish
    (Danio rerio)
    Actinopterygii adamtsl31 ADAMTS-like 3 57.1(n)
    52.23(a)
      100534944  XM_003198899.1  XP_003198947.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG316191 CG31619 48.26(n)
    40.89(a)
      35424  NM_001169569.2  NP_001163040.1 
    worm
    (Caenorhabditis elegans)
    Secernentea madd-41 Protein MADD-4 42.04(n)
    29.66(a)
      172706  NM_060004.3  NP_492405.3 


    ENSEMBL Gene Tree for ADAMTSL3 (if available)
    TreeFam Gene Tree for ADAMTSL3 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for ADAMTSL3 gene
    ADAMTSL42  ADAMTS132  ADAMTSL12  ENSG000002156162  THSD42  ADAMTSL22  PAPLN2  ADAMTSL52  
    1 SIMAP similar gene for ADAMTSL3 using alignment to 1 protein entry:     ATL3_HUMAN:
    ADAMTSL1

    ADAMTSL3 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/6218 NCBI SNPs in ADAMTSL3 are shown (see all 6218    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 15 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1129916311,2
    --84320839(+) TAAGGC/TCCAAC 1 -- us2k11Minor allele frequency- T:0.50CSA 2
    rs11170971,2
    C,F,H,--84321048(+) AATACG/ATAAGT 1 -- us2k19Minor allele frequency- A:0.01NS EA NA WA 928
    rs1482899281,2
    --84321195(+) CAAAAA/GTATTG 1 -- us2k10--------
    rs27300781,2
    C,F,A,H,--84321429(+) GTCCAA/GTCATT 1 -- us2k124Minor allele frequency- G:0.13NS EA NA CSA 2544
    rs1926218221,2
    --84321607(+) TTTAGG/TGGTGA 1 -- us2k10--------
    rs1422798931,2
    --84321832(+) TAATGC/TAGCCT 1 -- us2k10--------
    rs1847875701,2
    --84321996(+) CCAGGC/TCTGGA 1 -- us2k10--------
    rs1144852871,2
    F,--84322148(+) TGAGCG/ACTCCA 1 -- us2k11Minor allele frequency- A:0.05WA 118
    rs1463863211,2
    --84322164(+) CCTTGC/TGTGGC 1 -- us2k10--------
    rs1123469221,2
    C,--84322325(+) TGGCGC/TCCGGG 1 -- us2k12Minor allele frequency- T:0.27NA 122

    HapMap Linkage Disequilibrium report for ADAMTSL3 (84322838 - 84572838 bp, first 250kb of ADAMTSL3)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 20 variations for ADAMTSL3
         12 CNVs: 87787 66856 87786 38089 102150 66855 77036 87789 3089 87790 77038 77035
         8 Indels: 87793 87792 87791 33607 77037 102149 77039 87788
    Human Gene Mutation Database (HGMD): ADAMTSL3

    SABiosciences Cancer Mutation PCR Assays
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    (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.)
    About This Section

    ADAMTSL3 for disorders           About GeneDecksing

    OMIM gene information: 609199    OMIM disorders: --

    8 diseases for ADAMTSL3:    About MalaCards
    familial colorectal cancer    colorectal cancer    twinning    colon cancer
    schizophrenia    pancreatitis    prostatitis    neuronitis

    Human Genome Epidemiology (HuGE) Navigator: ADAMTSL3 (8 documents)

    Export disorders for ADAMTSL3 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)
    About This Section

    PubMed articles for ADAMTSL3 gene, integrated from 9 sources (see all 20):
    (articles sorted by number of sources associating them with ADAMTSL3)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Prediction of the coding sequences of unidentified human genes. XV. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PubMed id 10574462)1, 2, 3 Nagase T.... Ohara O. (1999)
    2. ADAMTSL3/punctin-2, a gene frequently mutated in colorectal tumors, is widely expressed in normal and malignant epithelial cells, vascular endothelial cells and other cell types, and its mRNA is reduced in colon cancer. (PubMed id 17597111)1, 2, 9 Koo B.H....Apte S.S. (2007)
    3. ADAMTSL-3/punctin-2, a novel glycoprotein in extracellular matrix related to the ADAMTS family of metalloproteases. (PubMed id 14667842)1, 2, 9 Hall N.G....Apte S.S. (2003)
    4. The DNA sequence and analysis of human chromosome 14. (PubMed id 12508121)1, 2 Heilig R.... Weissenbach J. (2003)
    5. Prediction of the coding sequences of unidentified human genes. IX. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro. (PubMed id 9628581)1, 3 Nagase T....Ohara O. (1998)
    6. ADAMTSL3 as a candidate gene for schizophrenia: gene sequencing and ultra-high density association analysis by imputation. (PubMed id 21239144)1 Dow D.J....Barnes M.R. (2011)
    7. Identification, replication, and fine-mapping of Loci associated with adult height in individuals of african ancestry. (PubMed id 21998595)1 N'Diaye A....Haiman C.A. (2011)
    8. The role of height-associated loci identified in geno me wide association studies in the determination of pediatric stature. (PubMed id 20546612)1 Zhao J....Grant S.F. (2010)
    9. A genome-wide association study in 19 633 Japanese su bjects identified LHX3-QSOX2 and IGF1 as adult height loci. (PubMed id 20189936)1 Okada Y....Kamatani N. (2010)
    10. Genome-wide association study of height and body mass index in Australian twin families. (PubMed id 20397748)1 Liu J.Z....McRae A.F. (2010)

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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 57188 HGNC: 14633 AceView: ADAMTSL3 Ensembl:ENSG00000156218 euGenes: HUgn57188
    ECgene: ADAMTSL3 H-InvDB: ADAMTSL3

    (According to HUGE)
    About This Section
    HUGE: KIAA1233

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for ADAMTSL3 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for ADAMTSL3 gene:
    Search GeneIP for patents involving ADAMTSL3

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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