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ADAMTSL5 Gene

protein-coding   GIFtS: 48
GCID: GC19M001510

ADAMTS-Like 5

(Previous names: thrombospondin, type I, domain containing 6)
(Previous symbol: THSD6)
  Search for ADAMTSL5
at  

(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
ADAMTS-Like 51 2
THSD61 2 3
Thrombospondin, Type I, Domain Containing 61 2
Thrombospondin Type-1 Domain-Containing Protein 62 3
ADAMTSL-52 3
ADAMTS-Like Protein 52

External Ids:    HGNC: 279121   Entrez Gene: 3393662   Ensembl: ENSG000001857617   UniProtKB: Q6ZMM23   

Export aliases for ADAMTSL5 gene to outside databases

Previous GC identifers: GC19M001460 GC19M001279


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for ADAMTSL5 Gene:
ADAMTSL5 (ADAMTS-like 5) is a protein-coding gene. GO annotations related to this gene include heparin binding and metalloendopeptidase activity. An important paralog of this gene is ADAMTSL4.

UniProtKB/Swiss-Prot: ATL5_HUMAN, Q6ZMM2
Function: May play a role in modulation of fibrillin microfibrils in the extracellular matrix (ECM)




(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_000019.9  NT_011295.12  NC_018930.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the ADAMTSL5 gene promoter:
         AhR   AML1a   Pax-5   Cdc5   AP-2gamma   C/EBPalpha   Arnt   ARP-1   Msx-1   ATF6   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidADAMTSL5 promoter sequence
   Search Chromatin IP Primers for ADAMTSL5

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ADAMTSL5


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

Entrez Gene cytogenetic band: 19p13.3   Ensembl cytogenetic band:  19p13.3   HGNC cytogenetic band: 19p13.3

ADAMTSL5 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ADAMTSL5 gene location

GeneLoc information about chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19M001510:  view genomic region     (about GC identifiers)

Start:
1,505,017 bp from pter      End:
1,513,603 bp from pter
Size:
8,587 bases      Orientation:
minus 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., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: ATL5_HUMAN, Q6ZMM2 (See protein sequence)
Recommended Name: ADAMTS-like protein 5 precursor  
Size: 481 amino acids; 53193 Da
Subunit: Interacts with heparin, FBN1 and FBN2
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: B4DXK7 Q8IW95
Alternative splicing: 2 isoforms:  Q6ZMM2-1   Q6ZMM2-2   (Minor)

Explore the universe of human proteins at neXtProt for ADAMTSL5: NX_Q6ZMM2

Explore proteomics data for ADAMTSL5 at MOPED

Post-translational modifications: 

  • Proteolytically cleaved to release a C-terminal fragment containing the NTR domain1
  • Contains at least one additional N-linked glycosylation site1
  • Glycosylation2 at Asn218

  • See ADAMTSL5 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_998769.2  
    ENSEMBL proteins: 
     ENSP00000327608   ENSP00000466151   ENSP00000466231   ENSP00000465064   ENSP00000399364  
     ENSP00000378850  
    Reactome Protein details: Q6ZMM2

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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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    Selected InterPro protein domains (see all 6):
     IPR000884 Thrombospondin_1_rpt
     IPR008993 TIMP-like_OB-fold
     IPR013273 Peptidase_M12B_ADAM-TS
     IPR010294 ADAM_spacer1
     IPR001134 Netrin_domain

    Graphical View of Domain Structure for InterPro Entry Q6ZMM2

    ProtoNet protein and cluster: Q6ZMM2

    UniProtKB/Swiss-Prot: ATL5_HUMAN, Q6ZMM2
    Similarity: Contains 1 NTR domain
    Similarity: Contains 1 TSP type-1 domain


    Find genes that share domains with ADAMTSL5           About GenesLikeMe


    (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,
    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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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: ATL5_HUMAN, Q6ZMM2
    Function: May play a role in modulation of fibrillin microfibrils in the extracellular matrix (ECM)

         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004222metalloendopeptidase activity IEA--
    GO:0005515protein binding ----
    GO:0008201heparin binding IDA--
    GO:0008270zinc ion binding IEA--
         
    Find genes that share ontologies with ADAMTSL5           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for ADAMTSL5:
     Synthetic lethal with Ras 

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for ADAMTSL5
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    miRNA
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    miRTarBase miRNAs that target ADAMTSL5:
    hsa-mir-124-3p (MIRT022758)

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    3 qRT-PCR Assays for microRNAs that regulate ADAMTSL5:
    hsa-miR-221* hsa-miR-593 hsa-miR-758
    SwitchGear 3'UTR luciferase reporter plasmidADAMTSL5 3' UTR sequence
    Inhib. RNA
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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
    ATL5_HUMAN, Q6ZMM2: Secreted. Secreted, extracellular space, extracellular matrix. Note=Colocalized with
    fibrillin microfibrils. Predominantly distributed in baso-lateral regions of fibroblast extracellular matrix
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    extracellular3
    nucleus3
    cytosol2
    lysosome2

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001527microfibril IDA--
    GO:0005578proteinaceous extracellular matrix IDA--
    GO:0031012extracellular matrix ----

    Find genes that share ontologies with ADAMTSL5           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 ADAMTSL5           About GenesLikeMe

    Pathways by sourceSee SuperPaths
    Show all pathways


    1 Reactome Pathway for ADAMTSL5
        O-glycosylation of TSR domain-containing proteins


        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for ADAMTSL5
    Interactions:

        Search GeneGlobe Interaction Network for ADAMTSL5

    STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

    1 Interacting protein for ADAMTSL5 (ENSP000003276084) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ELAVL1ENSP000003852694STRING: ENSP00000385269
    About this table

    (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 ADAMTSL5 (ATL5)



    (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 ADAMTSL5 gene: 
    NM_213604.2  

    Unigene Cluster for ADAMTSL5:

    ADAMTS-like 5
    Hs.371674  [show with all ESTs]
    Unigene Representative Sequence: NM_213604
    13 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000330475(uc010dsl.2 uc002ltd.2 uc010xgq.1) ENST00000591077
    ENST00000585700 ENST00000590440 ENST00000590562 ENST00000590682 ENST00000590090
    ENST00000587828 ENST00000586272 ENST00000589839 ENST00000585804 ENST00000413997
    ENST00000395467
    miRNA
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    3 qRT-PCR Assays for microRNAs that regulate ADAMTSL5:
    hsa-miR-221* hsa-miR-593 hsa-miR-758
    SwitchGear 3'UTR luciferase reporter plasmidADAMTSL5 3' UTR sequence
    Inhib. RNA
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      QuantiTect SYBR Green Assays in human, mouse, rat ADAMTSL5
      QuantiFast Probe-based Assays in human, mouse, rat ADAMTSL5

    Additional mRNA sequence: 

    AK131571.1 AK302020.1 BC040620.1 BC119796.1 BC139833.1 

    5 DOTS entries:

    DT.97788062  DT.91639539  DT.100728369  DT.95297433  DT.100679094 

    Selected AceView cDNA sequences (see all 33):

    N42597 NM_213604 AW517025 BC040620 BM547593 AI027207 AW294332 AI197889 
    BX114196 N46028 AI452941 AI347345 AK131571 BX951496 BV191083 AI866924 
    N36811 BX390004 N68535 BX384083 CD359004 AA640724 AI039820 N31586 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for ADAMTSL5    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15
    SP1:              -                                   -                                             
    SP2:                    -                             -                                             
    SP3:        -           -                                                                           
    SP4:                                                                                                


    ECgene alternative splicing isoforms for ADAMTSL5

    (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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    ADAMTSL5 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: ACCTGCTCCT
    ADAMTSL5 Expression
    About this image

    ADAMTSL5 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ADAMTSL5 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.371674
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    In Situ
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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 ADAMTSL5 gene from Selected species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Adamtsl51 , 5 ADAMTS-like 51, 5 79.37(n)1
    80.52(a)1
      10 (39.72 cM)5
    665481  NM_001285435.11  NP_001272364.11 
     803391105 
    chicken
    (Gallus gallus)
    Aves ADAMTSL51 ADAMTS-like 5 63.88(n)
    53.72(a)
      427264  XM_004948884.1  XP_004948941.1 
    lizard
    (Anolis carolinensis)
    Reptilia --
    Uncharacterized protein
    6(a)
    many ↔ many
    2(10517409-10628193)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia LOC1004876331 ADAMTS-like protein 5-like 49.47(n)
    43.64(a)
      100487633  XM_002941121.2  XP_002941167.2 
    zebrafish
    (Danio rerio)
    Actinopterygii CR382298.36
    Uncharacterized protein
    33(a)
    1 ↔ 1
    7(51934357-51973041) ENSDARG00000052118


    ENSEMBL Gene Tree for ADAMTSL5 (if available)
    TreeFam Gene Tree for ADAMTSL5 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for ADAMTSL5 gene
    ADAMTSL42  ADAMTS72  ADAMTS132  ADAMTS122  THSD42  ADAMTSL22  PAPLN2  ADAMTSL12  
    ENSG000002156162  ADAMTSL32  
    2 SIMAP similar genes for ADAMTSL5 using alignment to 6 protein entries:     ATL5_HUMAN (see all proteins):
    PAPLN    ADAMTSL1

    Find genes that share paralogs with ADAMTSL5           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 ADAMTSL5 (see all 310)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 19 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs791499121,2
    F--1504542(+) GGCTGG/TACCAG 1 -- int11Minor allele frequency- T:0.08NA 120
    rs1492012741,2
    --1504585(+) CCTACC/GCATGA 1 -- int10--------
    rs593620731,2
    C,F--1504595(+) AGCAAG/AGTCGA 1 -- int12Minor allele frequency- A:0.18CSA WA 120
    rs2653011,2
    C,F,H--1504618(+) CCAGCG/ATGTCC 1 -- int126Minor allele frequency- A:0.45NS EA NA WA CSA 2623
    rs1142197181,2
    C--1504858(+) ACACCA/GGGTCC 1 -- int10--------
    rs1902559721,2
    --1504868(+) CTTTGC/TGGGGT 1 -- int10--------
    rs1394014721,2
    --1504894(+) GGAGAA/GCATTA 1 -- int10--------
    rs1433083281,2
    --1504979(+) GTGTAA/TACTAA 1 -- int10--------
    rs795267361,2
    C--1505100(+) GATAGT/CGCATG 1 -- ut312Minor allele frequency- C:0.09WA 120
    rs1475258681,2
    --1505137(+) CGAGGC/GAGGAG 1 -- ut310--------

    HapMap Linkage Disequilibrium report for ADAMTSL5 (1505017 - 1513603 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for ADAMTSL5 (see all 25):    About this table    
    Variant IDTypeSubtypePubMed ID
    dgv3589n71CNV Loss21882294
    nsv470106CNV Loss18288195
    nsv910292CNV Loss21882294
    nsv910499CNV Loss21882294
    dgv3609n71CNV Loss21882294
    dgv3606n71CNV Loss21882294
    dgv3596n71CNV Loss21882294
    dgv3608n71CNV Loss21882294
    dgv3607n71CNV Loss21882294
    dgv3601n71CNV Loss21882294

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing ADAMTSL5
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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.)
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    Find genes that share disorders with ADAMTSL5           About GenesLikeMe

    Genetic Association Database (GAD): ADAMTSL5
    Human Genome Epidemiology (HuGE) Navigator: ADAMTSL5 (2 documents)

    Export disorders for ADAMTSL5 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 ADAMTSL5 gene integrated from 10 sources:
    (articles sorted by number of sources associating them with ADAMTSL5)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A disintegrin-like and metalloprotease domain containing thrombospondin type 1 motif-like 5 (ADAMTSL5) is a novel fibrillin-1-, fibrillin-2-, and heparin-binding member of the ADAMTS superfamily containing a netrin-like module. (PubMed id 23010571)1, 2 Bader H.L....Apte S.S. (Matrix Biol. 2012)
    2. Assessment of a polymorphism of SDK1 with hypertension in Japanese Individuals. (PubMed id 19851296)1, 4 Oguri M....Yamada Y. (Am. J. Hypertens. 2010)
    3. Association of genetic variants with hemorrhagic stroke in Japanese individuals. (PubMed id 20198315)1, 4 Yoshida T....Yamada Y. (Int. J. Mol. Med. 2010)
    4. 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. (Genome Res. 2004)
    5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    6. Ubiquitin-mediated proteolysis of HuR by heat shock. (PubMed id 19322201)1 Abdelmohsen K....Gorospe M. (EMBO J. 2009)
    7. Pan-genome isolation of low abundance transcripts using SAGE tag. (PubMed id 17113583)1 Kim Y.C....Wang S.M. (FEBS Lett. 2006)
    8. The DNA sequence and biology of human chromosome 19. (PubMed id 15057824)2 Grimwood J.... Lucas S.M. (Nature 2004)
    9. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002)

    (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: 339366 HGNC: 27912 AceView: THSD6 Ensembl:ENSG00000185761 euGenes: HUgn339366
    ECgene: ADAMTSL5 H-InvDB: ADAMTSL5

    (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 ADAMTSL5 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
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    IP news from LifeMap Sciences, Inc.)
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    Patent Information for ADAMTSL5 gene:
    Search GeneIP for patents involving ADAMTSL5

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