Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 
or upload a file of gene symbols


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

ADAMTSL1 Gene

protein-coding   GIFtS: 55
GCID: GC09P018464

ADAMTS-Like 1

(Previous name: chromosome 9 open reading frame 94)
(Previous symbol: C9orf94)
Microbiology & Infectious Diseases Congress
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
ADAMTS-Like 11 2     PUNCTIN2
C9orf941 2 3     ADAM-TS Related Protein 12
ADAMTSL-12 3     ADAMTS-Like Protein 12
ADAMTSR12 3     punctin-12
Chromosome 9 Open Reading Frame 941     Punctin-13
punctin1     

External Ids:    HGNC: 146321   Entrez Gene: 929492   Ensembl: ENSG000001780317   OMIM: 6091985   UniProtKB: Q8N6G63   

Export aliases for ADAMTSL1 gene to outside databases

Previous GC identifers: GC09P018952 GC09P018811


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

Entrez Gene summary for ADAMTSL1 Gene:
This gene encodes a secreted protein and member of the ADAMTS (a disintegrin and metalloproteinase with
thrombospondin motif) family. This protein lacks the metalloproteinase and disintegrin-like domains, which are
typical of the ADAMTS family, but contains other ADAMTS domains, including the thrombospondin type 1 motif. This
protein may have important functions in the extracellular matrix. Alternative splicing results in multiple
transcript variants encoding distinct proteins. (provided by RefSeq, Jul 2008)

GeneCards Summary for ADAMTSL1 Gene: 
ADAMTSL1 (ADAMTS-like 1) is a protein-coding gene. Diseases associated with ADAMTSL1 include quebec platelet disorder, and colonic disease. GO annotations related to this gene include metallopeptidase activity and zinc ion binding. An important paralog of this gene is ADAMTSL4.

Gene Wiki entry for ADAMTSL1 Gene


(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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000009.11  NC_018920.2  NT_008413.18  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the ADAMTSL1 gene promoter:
         COUP-TF1   USF1   COUP   HNF-4alpha2   HNF-4alpha1   RORalpha1   FAC1   COUP-TF   USF-1   IRF-7A   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidADAMTSL1 promoter sequence
   Search SABiosciences Chromatin IP Primers for ADAMTSL1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ADAMTSL1


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

Entrez Gene cytogenetic band: 9p21.3   Ensembl cytogenetic band:  9p22.2   HGNC cytogenetic band: 9p21.3

ADAMTSL1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ADAMTSL1 gene location

GeneLoc information about chromosome 9         GeneLoc Exon Structure

GeneLoc location for GC09P018464:  view genomic region     (about GC identifiers)

Start:
18,473,892 bp from pter      End:
18,910,948 bp from pter
Size:
437,057 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: ATL1_HUMAN, Q8N6G6 (See protein sequence)
Recommended Name: ADAMTS-like protein 1 precursor  
Size: 1762 amino acids; 193409 Da
Subunit: Monomer
Subcellular location: Secreted, extracellular space, extracellular matrix
Mass spectrometry: Mass=61935; Mass_error=595; Method=MALDI; Range=28-525 (Q8N6G6-1); Source=PubMed:11805097;
Caution: Although strongly similar to members of the ADAMTS family it lacks the metalloprotease and
disintegrin-like domains which are typical of that family
Sequence caution: Sequence=AAI00789.1; Type=Frameshift; Positions=1312; Sequence=AAI00791.1; Type=Frameshift;
Positions=1312; Sequence=AAK34948.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Secondary accessions: A6PVN1 A8K7E1 Q496M6 Q496M8 Q5T708 Q5VZT8 Q8NAI9 Q96RW4 Q9BXY3
Alternative splicing: 6 isoforms:  Q8N6G6-3   Q8N6G6-1   Q8N6G6-2   Q8N6G6-4   Q8N6G6-5   Q8N6G6-6   (May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay)

Explore the universe of human proteins at neXtProt for ADAMTSL1: NX_Q8N6G6

Explore proteomics data for ADAMTSL1 at MOPED 

Post-translational modifications:

  • UniProtKB: C-, N- and O-glycosylated. 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
    ADAMTSL1. 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
  • UniProtKB: Disulfide bonds are present
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q8N6G6

  • ADAMTSL1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    ADAMTSL1 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_001035362.3  NP_443098.3  

    ENSEMBL proteins: 
     ENSP00000369921   ENSP00000327887   ENSP00000401157   ENSP00000369944   ENSP00000369940  
     ENSP00000276935   ENSP00000369918   ENSP00000440472   ENSP00000373362   ENSP00000369911  

    Human Recombinant Protein Products for ADAMTSL1: 
    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    OriGene Protein Over-expression Lysate for ADAMTSL1
    OriGene Custom MassSpec 
    OriGene Custom Protein Services for ADAMTSL1
    GenScript Custom Purified and Recombinant Proteins Services for ADAMTSL1
    Novus Biologicals ADAMTSL1 Proteins
    Novus Biologicals ADAMTSL1 Lysate
    Sino Biological Recombinant Protein for ADAMTSL1
    Sino Biological Cell Lysate for ADAMTSL1 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for ADAMTSL1 

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

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

    ADAMTSL1 for ontologies           About GeneDecksing



    ADAMTSL1 Antibody Products: 
    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    R&D Systems Antibodies for ADAMTSL1 (ADAMTSL-1/Punctin)
    Browse OriGene Antibodies
    OriGene Custom Antibody Services for ADAMTSL1
    GenScript Custom Superior Antibodies Services for ADAMTSL1
    Novus Biologicals ADAMTSL1 Antibodies
    Abcam antibodies for ADAMTSL1
    Cloud-Clone Corp. Antibodies for ADAMTSL1 
    ThermoFisher Antibodies for ADAMTSL1
    LSBio Antibodies in human, mouse, rat for ADAMTSL1 

    Assay Products for ADAMTSL1: 
    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for ADAMTSL1
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for ADAMTSL1
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for ADAMTSL1 
    Cloud-Clone Corp. CLIAs for ADAMTSL1


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    ISET: Immunoglobulin superfamily / I-set domain containing

    5/7 InterPro protein domains (see all 7):
     IPR003598 Ig_sub2
     IPR000884 Thrombospondin_1_rpt
     IPR007110 Ig-like_dom
     IPR010909 PLAC
     IPR013098 Ig_I-set

    Graphical View of Domain Structure for InterPro Entry Q8N6G6

    ProtoNet protein and cluster: Q8N6G6

    UniProtKB/Swiss-Prot: ATL1_HUMAN, Q8N6G6
    Similarity: Contains 4 Ig-like C2-type (immunoglobulin-like) domains
    Similarity: Contains 1 PLAC domain
    Similarity: Contains 9 TSP type-1 domains


    ADAMTSL1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    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, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

         Gene Ontology (GO): 5 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004222metalloendopeptidase activity ----
    GO:0005515protein binding ----
    GO:0008233peptidase activity ----
    GO:0008237metallopeptidase activity IEA--
    GO:0008270zinc ion binding IEA--
         
    ADAMTSL1 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for ADAMTSL1:
     Decreased POU5F1-GFP protein e 

         1 MGI phenotypic allele for Adamtsl1 (no phenotypes)

    ADAMTSL1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Adamtsl1tm1Lex for ADAMTSL1

       inGenious Targeting Laboratory - Custom generated mouse model solutions for ADAMTSL1 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for ADAMTSL1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for ADAMTSL1 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for ADAMTSL1 

    miRNA
    Products:
        
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat ADAMTSL1
    8/44 QIAGEN miScript miRNA Assays for microRNAs that regulate ADAMTSL1 (see all 44):
    hsa-miR-21* hsa-miR-4328 hsa-miR-513a-5p hsa-miR-25 hsa-miR-3916 hsa-miR-4325 hsa-miR-3613-3p hsa-miR-889
    SwitchGear 3'UTR luciferase reporter plasmidADAMTSL1 3' UTR sequence
    Inhib. RNA
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for ADAMTSL1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat ADAMTSL1

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for ADAMTSL1
    Sirion Biotech Customized adenovirus for overexpression of ADAMTSL1

    Clone
    Products:
         
    Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene clones in human, mouse for ADAMTSL1 (see all 12)
    OriGene ORF clones in mouse, rat for ADAMTSL1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): ADAMTSL1 (NM_001040272)
    Sino Biological Human cDNA Clone for ADAMTSL1
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ADAMTSL1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ADAMTSL1

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for ADAMTSL1
    Search LifeMap BioReagents cell lines for ADAMTSL1
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ADAMTSL1


    (Pathways according to EMD Millipore, 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 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for ADAMTSL1 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Notch Signaling Pathway
    Notch Signaling Pathway


    1 Sino Biological Pathway for ADAMTSL1 
        Notch Signaling Pathway


    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for ADAMTSL1

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    ADAMTSL1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for ADAMTSL1 (ATL1)

    1 HMDB Compound for ADAMTSL1    About this table
    CompoundSynonyms CAS #PubMed Ids
    3-O-Sulfogalactosylceramide (d18:1/24:0)Sulfatide (d18:1/24:0) (see all 16)151122-71-31527055

    10/84 Novoseek inferred chemical compound relationships for ADAMTSL1 gene (see all 84)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    fibrinogen 67.5 89 12351391 (6), 11939312 (3), 8652809 (3), 12913789 (2) (see all 60)
    heparin 61.6 61 1497347 (5), 1557410 (5), 8490019 (2), 8227183 (2) (see all 39)
    grgds 60.7 2 9426405 (1), 10192429 (1)
    procollagen 59 4 7958919 (1), 15135140 (1), 18084737 (1), 18790648 (1)
    antistasin 49.8 1 2303431 (1)
    heparan sulfate 49.3 8 1279952 (2), 8891889 (1), 15748207 (1), 18219588 (1) (see all 6)
    vegf 48.8 19 14517432 (2), 9136993 (2), 12539174 (1), 18443598 (1) (see all 16)
    sulfatide 45.8 3 2393863 (2), 1557410 (1)
    fucoidan 40.5 2 1802722 (2)
    dextran sulfate 40.4 1 8939794 (1)

    Search CenterWatch for drugs/clinical trials and news about ADAMTSL1 / ATL1

    (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,
    Conferences by KenesGroup, 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, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for ADAMTSL1 gene (4 alternative transcripts): 
    NM_139238.1  NM_139264.1  NM_001040272.5  NM_052866.4  

    Unigene Cluster for ADAMTSL1:

    ADAMTS-like 1
    Hs.741483  [show with all ESTs]
    Unigene Representative Sequence: NM_001040272
    14 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000380548(uc003zne.4 uc003znf.4) ENST00000327883(uc003znc.4)
    ENST00000431052 ENST00000380570 ENST00000380566(uc003znb.3) ENST00000276935
    ENST00000546040 ENST00000380559 ENST00000496521 ENST00000380545 ENST00000542621
    ENST00000388710 ENST00000380538 ENST00000489062(uc003zng.1)
    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

    miRNA
    Products:
         
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat ADAMTSL1
    8/44 QIAGEN miScript miRNA Assays for microRNAs that regulate ADAMTSL1 (see all 44):
    hsa-miR-21* hsa-miR-4328 hsa-miR-513a-5p hsa-miR-25 hsa-miR-3916 hsa-miR-4325 hsa-miR-3613-3p hsa-miR-889
    SwitchGear 3'UTR luciferase reporter plasmidADAMTSL1 3' UTR sequence
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for ADAMTSL1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat ADAMTSL1
    Clone
    Products:
         
    OriGene clones in human, mouse for ADAMTSL1 (see all 12)
    OriGene ORF clones in mouse, rat for ADAMTSL1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): ADAMTSL1 (NM_001040272)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ADAMTSL1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ADAMTSL1
    Primer
    Products:
        
    OriGene qSTAR qPCR primer pairs in human, mouse for ADAMTSL1
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat ADAMTSL1
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat ADAMTSL1
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ADAMTSL1

    Additional mRNA sequence: 

    AF176313.1 AF251058.1 AK123028.1 AK290667.1 AK291956.1 AY358327.1 BC030262.1 BC100788.2 
    BC100790.2 BX640951.1 

    10 DOTS entries:

    DT.40304105  DT.75110188  DT.320167  DT.100020324  DT.121172678  DT.101964799  DT.301410  DT.95330495 
    DT.97824039  DT.75187197 

    24/41 AceView cDNA sequences (see all 41):

    AW137913 N44869 AI825646 BF932251 AI342006 NM_139238 BX113912 BC030262 
    NM_052866 AF251058 AY358327 BF058634 BQ007587 BM555663 BF445136 BM476141 
    BI523618 BF111214 BF510853 BQ005983 NM_139264 BE888902 N33407 BG196903 

    GeneLoc Exon Structure

    3 Alternative Splicing Database (ASD) splice patterns (SP) for ADAMTSL1    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6a · 6b ^ 7a · 7b
    SP1:                          -                                 
    SP2:                    -     -                                 
    SP3:                                                            


    ECgene alternative splicing isoforms for ADAMTSL1

    (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

    ADAMTSL1 expression in normal human tissues (normalized intensities)      ADAMTSL1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TAGTATTTAT
    ADAMTSL1 Expression
    About this image


    ADAMTSL1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/6 selected tissues (see all 6) fully expand
     
     Peripheral Nervous System (Nervous System)
             dorsal root ganglia   
     
     Ovary (Reproductive System)
             oocyte   
     
     Hair
             Human Hair Outer Root Sheath Cells (HHORSC)   
     
     Liver (Hepatobiliary System)
             Mature Mesothelial Cells Hepatic Mesenchyme
     
     Brain (Nervous System)
             Myelinating Oligodendrocyte Cells Forebrain White Matter

    See ADAMTSL1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for ADAMTSL1

    SOURCE GeneReport for Unigene cluster: Hs.741483

    UniProtKB/Swiss-Prot: ATL1_HUMAN, Q8N6G6
    Tissue specificity: Expressed primarily in adult skeletal muscle

        SABiosciences Custom PCR Arrays for ADAMTSL1
    Primer
    Products:
    OriGene qSTAR qPCR primer pairs in human, mouse for ADAMTSL1
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat ADAMTSL1
    QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat ADAMTSL1
    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ADAMTSL1
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ADAMTSL1

    (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 ADAMTSL1 gene from 6/12 species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Adamtsl11 , 5 ADAMTS-like 11, 5 86.68(n)1
    91.86(a)1
      4 (40.32 cM)5
    777391  NM_029967.31  NP_084243.31 
     860539155 
    chicken
    (Gallus gallus)
    Aves ADAMTSL11 ADAMTS-like 1 74.42(n)
    78.69(a)
      431603  XM_429157.3  XP_429157.3 
    lizard
    (Anolis carolinensis)
    Reptilia ADAMTSL16
    ADAMTS-like 1
    78(a)
    1 ↔ 1
    2(62724064-63050968)
    zebrafish
    (Danio rerio)
    Actinopterygii CABZ01112436.16
    Uncharacterized protein
    9(a)
    possible ortholog
    Zv9_NA786(408-22627)
    fruit fly
    (Drosophila melanogaster)
    Insecta stl6
    stall
    7(a)
    possible ortholog
    2R(18695365-18703498)
    worm
    (Caenorhabditis elegans)
    Secernentea adt-26
    adt-16
    (see all 3)
    Protein ADT-1
    (see all 3)
    11(a)
    11(a)
    (see all 3)
    possible ortholog
    possible ortholog
    (see all 3)
    X(7585587-7595489)
    X(12678832-12689279)


    ENSEMBL Gene Tree for ADAMTSL1 (if available)
    TreeFam Gene Tree for ADAMTSL1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for ADAMTSL1 gene
    ADAMTSL42  ADAMTS72  ADAMTS132  ADAMTS122  THSD42  ADAMTSL22  PAPLN2  ADAMTSL52  
    ENSG000002156162  ADAMTSL32  
    10 SIMAP similar genes for ADAMTSL1 using alignment to 5 protein entries:     ATL1_HUMAN (see all proteins):
    C9orf94    ADAMTSL3    ADAMTS3    ADAMTS5    ADAMTS9    ADAMTS16
    ADAMTS20    MUSK    PAPLN    ADAMTSL5

    ADAMTSL1 for paralogs           About GeneDecksing



    (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) 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

    10/11150 SNPs in ADAMTSL1 are shown (see all 11150)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 9 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1833667071,2
    --18472326(+) ATACGC/GTTTAG 2 -- us2k10--------
    rs1880606961,2
    --18472488(+) TTTGTA/GTGACC 2 -- us2k10--------
    rs760269431,2
    C,F--18472511(+) ACAGCA/TTGAAA 2 -- us2k14Minor allele frequency- T:0.10NA CSA WA 242
    rs105116381,2
    C,F,H--18472546(-) ATCAAT/CTAAAG 2 -- us2k116Minor allele frequency- C:0.07NS EA NA CSA WA 908
    rs1422207861,2
    --18472588(+) ACAACA/CTGCTT 2 -- us2k10--------
    rs1932640941,2
    --18472618(+) GCAACA/GCAGCA 2 -- us2k10--------
    rs1841255291,2
    --18472741(+) AAGAAC/TATTAA 2 -- us2k10--------
    rs1512337771,2
    --18472752(+) TTCTAA/CATGTC 2 -- us2k10--------
    rs1134042741,2
    C,F--18472846(+) AGGCCA/GGGGCT 2 -- us2k13Minor allele frequency- G:0.09CSA WA 122
    rs1879571611,2
    --18472986(+) GGTGGA/TTTAAG 2 -- us2k10--------

    HapMap Linkage Disequilibrium report for ADAMTSL1 (18473892 - 18723892 bp, first 250kb of ADAMTSL1)

    Structural Variations
         Database of Genomic Variants (DGV) 10/36 variations for ADAMTSL1 (see all 36):    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2738255CNV Deletion23290073
    esv2611468CNV Deletion19546169
    esv1945859CNV Deletion18987734
    esv1006882CNV Deletion20482838
    esv1386680CNV Deletion17803354
    esv2262298CNV Deletion18987734
    esv998276CNV Deletion20482838
    esv2678130CNV Deletion23128226
    esv4320CNV Deletion18987735
    esv2738253CNV Deletion23290073

    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing ADAMTSL1
    DNA2.0 Custom Variant and Variant Library Synthesis for ADAMTSL1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 609198    OMIM disorders: --

    20/82 diseases for ADAMTSL1 (see all 82):    About MalaCards
    quebec platelet disorder    colonic disease    coronary stenosis    von willebrand's disease
    malaria    osteogenesis imperfecta    pseudoachondroplasia    breast disease
    nephrosclerosis    purpura    megakaryocytic leukemia    breast cyst
    thrombotic thrombocytopenic purpura    thrombocytosis    protein c deficiency    proliferative diabetic retinopathy
    thrombophilia    sickle cell disease    crescentic glomerulonephritis    diabetic retinopathy


    ADAMTSL1 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    10/83 Novoseek inferred disease relationships for ADAMTSL1 gene (see all 83)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    psach 73.9 1 11691584 (1)
    quebec platelet disorder 69.6 2 8652809 (2)
    malaria cerebral 59.2 2 12563735 (1)
    purpura thrombotic thrombocytopenic 51 3 19786614 (1), 18828196 (1), 18957966 (1)
    sickle cell disease 43.5 1 8656036 (1)
    neovascularization 42.5 2 1697685 (1), 15250170 (1)
    malaria 40.9 7 10697897 (2), 2204833 (1), 15003842 (1), 17762778 (1) (see all 5)
    melanoma 39 26 2393863 (5), 1557410 (4), 8925881 (3), 7599038 (2) (see all 11)
    von willebrand disease 36.8 1 14525793 (1)
    malaria falciparum 34.1 2 8798390 (1), 8702026 (1)

    Genetic Association Database (GAD): ADAMTSL1
    Human Genome Epidemiology (HuGE) Navigator: ADAMTSL1 (5 documents)

    Export disorders for ADAMTSL1 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 ADAMTSL1 gene, integrated from 9 sources (see all 676):
    (articles sorted by number of sources associating them with ADAMTSL1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Punctin, a novel ADAMTS-like molecule, ADAMTSL-1, in extracellular matrix. (PubMed id 11805097)1, 2, 3, 9 Hirohata S.... Apte S.S. (2002)
    2. Post-translational modification of thrombospondin typ e-1 repeats in ADAMTS-like 1/punctin-1 by C-mannosylation of tryptophan. (PubMed id 19671700)1, 2, 9 Wang L.W....Apte S.S. (2009)
    3. O-fucosylation of thrombospondin type 1 repeats in ADAMTS-like-1/punctin-1 regulates secretion: implications for the ADAMTS superfamily. (PubMed id 17395588)1, 2, 9 Wang L.W....Apte S.S. (2007)
    4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (2010)
    5. Variation at the NFATC2 locus increases the risk of t hiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipr il and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (2010)
    6. Association and interaction analyses of eight genes u nder asthma linkage peaks. (PubMed id 19824886)1, 4 Ferreira M.A....Duffy D.L. (2009)
    7. DNA sequence and analysis of human chromosome 9. (PubMed id 15164053)1, 2 Humphray S.J.... Dunham I. (2004)
    8. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    9. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    10. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PubMed id 12975309)1, 2 Clark H.F.... Gray A.M. (2003)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 92949 HGNC: 14632 AceView: ADAMTSL1 Ensembl:ENSG00000178031 euGenes: HUgn92949
    ECgene: ADAMTSL1 H-InvDB: ADAMTSL1

    (According to HUGE)
    About This Section
      --

    (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 ADAMTSL1 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 ADAMTSL1 gene:
    Search GeneIP for patents involving ADAMTSL1

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
    About This Section

     
     EMD Millipore Custom Antibody & Bulk Services
     EMD Millipore Preclinical / Clinical Development Services
     EMD Millipore Immunoassay Services
     EMD Millipore Target Screening & Profiling Services

      
     Antibodies for ADAMTSL1 (ADAMTSL-1/Punctin)   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Kinase Activity Assays/Reagents  
     Browse ELISpot Kits/Development Modules   Browse TFB/Immunoprecipitation Assays  
     Browse Apoptosis Detection Kits/Reagents   Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents  
     Browse DNA Damage/Repair Kits/Reagents   Browse Multiplex/Array Assay Kits/Reagents  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Protease Activity Assays and Reagents   Browse Recombinant/Natural Proteins  
     Browse Stem Cell Products   Browse Tocris Biochemicals & Compounds  
     Browse cDNA Clones   Browse Proteome Profiler Antibody Arrays  
     Browse OriGene Antibodies   OriGene RNAi products in human, mouse, rat for ADAMTSL1  
     Browse OriGene qPCR primer pairs and template standards   OriGene Protein Over-expression Lysate for ADAMTSL1  
     OriGene Custom Mass Spec   OriGene clones in human, mouse for ADAMTSL1  
     OriGene qSTAR qPCR primer pairs in human, mouse for ADAMTSL1   Browse OriGene full length recombinant human proteins expressed in human HEK293 cells  
     OriGene ORF clones in mouse, rat for ADAMTSL1   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for ADAMTSL1   OriGene Custom Protein Services for ADAMTSL1  

     
     
     QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat ADAMTSL1
     QIAGEN SeqTarget long-range PCR primers for resequencing ADAMTSL1
     QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ADAMTSL1
     QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat ADAMTSL1
     QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ADAMTSL1
     QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat ADAMTSL1
     GenScript Custom Purified and Recombinant Proteins Services for ADAMTSL1 GenScript cDNA clones with any tag delivered in your preferred vector for ADAMTSL1
     GenScript Custom Assay Services for ADAMTSL1 GenScript Custom Superior Antibodies Services for ADAMTSL1
     GenScript Custom overexpressing Cell Line Services for ADAMTSL1 CloneReady with Over 120,000 Genes
     Gene Synthesis: Any Gene in Any Vector Vector-based siRNA and miRNA, Ready for Transfection
     Gene Mutant Library, Variants up to 10^11 Plasmid Preparation
     Custom Peptide Services
     Search for Antibodies & Assays

     Regulatory tfbs in ADAMTSL1 promoter
     Search Chromatin IP Primers for ADAMTSL1
     RT2 qPCR Primer Assay in human, mouse, rat ADAMTSL1
     Search GNC Networks for ADAMTSL1
     SABiosciences Custom PCR Arrays for ADAMTSL1
     Search Tocris compounds for ADAMTSL1 (ATL1)
     Proteins and Antibodies for ADAMTSL1
     Cell Lysates for ADAMTSL1
     cDNA Clones for ADAMTSL1
     4000+ Proteins
     Search Sino Biological for antibodies, proteins & pathways
     Protein Production Services
     Transfection Reagents
     Protein A/G/L resins
     Isotyping reagents
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies
     Novus Tissue Slides
     ADAMTSL1 antibodies
     ADAMTSL1 proteins
     ADAMTSL1 lysates
     Antibodies for ADAMTSL1
     See all of Abcam's Antibodies, Kits and Proteins for ADAMTSL1
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Browse ProSpec Recombinant Proteins




     Proteins for ADAMTSL1
     Antibodies for ADAMTSL1
     ELISAs for ADAMTSL1
     CLIAs for ADAMTSL1
     Search LifeMap BioReagents cell lines for ADAMTSL1
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ADAMTSL1
     SwitchGear 3'UTR luciferase reporter plasmids for ADAMTSL1
     SwitchGear Promoter luciferase reporter plasmids for ADAMTSL1
     ThermoFisher Antibodies for ADAMTSL1
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ADAMTSL1
     inGenious Targeting Laboratory - Custom generated mouse model solutions for ADAMTSL1
     inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for ADAMTSL1
    Customized:
     lentivirus for stable overexpression
     lentivirus expression plasmids for stable overexpression
     adenovirus for overexpression of ADAMTSL1
     LSBio Antibodies in human, mouse, rat for ADAMTSL1
    Customized transgenic rodents for:
     Humanization
     Biomarker expression
     Off-target effect monitoring
     Translational medicine
     Tissue-specific gene expresssion
     Time-controlled gene expresssion
           
    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

    View Random Gene

    Category
    (GIFtS: 73)
    transforming growth factor, beta 1
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


    Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

    Hot genes      Disease genes      ADAMTSL1 gene at Home site.
    hostname: 356980-web2.xennexinc.com index build: 106 solr: 1.4