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ADAMTSL4 Gene

protein-coding   GIFtS: 51
GCID: GC01P150522

ADAMTS-Like 4

(Previous name: thrombospondin repeat containing 1)
(Previous symbol: TSRC1)
  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)
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Aliases
ADAMTS-Like 41 2     ECTOL22 5
TSRC11 2 3 5     Thrombospondin Repeat Containing 11
Thrombospondin Repeat-Containing Protein 12 3     ADAMTS-Like Protein 42
ADAMTSL-42 3     

External Ids:    HGNC: 197061   Entrez Gene: 545072   Ensembl: ENSG000001433827   OMIM: 6101135   UniProtKB: Q6UY143   

Export aliases for ADAMTSL4 gene to outside databases

Previous GC identifers: GC01P147336 GC01P148788 GC01P121900


(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 ADAMTSL4 Gene:
This gene is a member of ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs)-like gene family
and encodes a protein with protein with seven thrombospondin type 1 repeats. The thrombospondin type 1 repeat
domain is found in many proteins with diverse biological functions including cellular adhesion, angiogenesis, and
patterning of the developing nervous system. Alternate transcriptional splice variants, encoding different
isoforms, have been characterized. (provided by RefSeq, Jul 2008)

GeneCards Summary for ADAMTSL4 Gene:
ADAMTSL4 (ADAMTS-like 4) is a protein-coding gene. Diseases associated with ADAMTSL4 include adamtsl4-related eye disorders, and ectopia lentis, isolated autosomal recessive. GO annotations related to this gene include metalloendopeptidase activity and protease binding. An important paralog of this gene is ADAMTS7.

UniProtKB/Swiss-Prot: ATL4_HUMAN, Q6UY14
Function: Positive regulation of apoptosis. May facilitate FBN1 microfibril biogenesis

Gene Wiki entry for ADAMTSL4 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000001.11  NT_004487.20  NC_018912.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the ADAMTSL4 gene promoter:
         HOXA9B   HOXA9   AhR   CREB   PPAR-gamma1   SEF-1 (1)   STAT3   Meis-1a   PPAR-gamma2   Meis-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidADAMTSL4 promoter sequence
   Search Chromatin IP Primers for ADAMTSL4

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ADAMTSL4


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

Entrez Gene cytogenetic band: 1q21.3   Ensembl cytogenetic band:  1q21.3   HGNC cytogenetic band: 1q21.2

ADAMTSL4 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ADAMTSL4 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01P150522:  view genomic region     (about GC identifiers)

Start:
150,521,884 bp from pter      End:
150,533,413 bp from pter
Size:
11,530 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, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: ATL4_HUMAN, Q6UY14 (See protein sequence)
Recommended Name: ADAMTS-like protein 4 precursor  
Size: 1074 amino acids; 116545 Da
Subunit: Interacts with CTSB. Interacts with FBN1
Caution: Although similar to members of the ADAMTS family, it lacks the metalloprotease and disintegrin-like
domains which are typical of that family
Sequence caution: Sequence=AAG17217.1; Type=Frameshift; Positions=719;
Secondary accessions: Q5T5F7 Q6IPM6 Q8N643 Q9HBS6
Alternative splicing: 2 isoforms:  Q6UY14-1   Q6UY14-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for ADAMTSL4: NX_Q6UY14

Explore proteomics data for ADAMTSL4 at MOPED

Post-translational modifications: 

  • N-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. N- and C-glycosylations can also facilitate secretion (By similarity)1
  • Glycosylation2 at Thr106, Ser107, Ser181, Thr260, Ser304, Thr319, Asn490, Asn773
  • Modification sites at PhosphoSitePlus

  • See ADAMTSL4 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (4 alternative transcripts): 
    NP_001275536.1  NP_001275537.1  NP_061905.2  NP_079284.2  

    ENSEMBL proteins: 
     ENSP00000358037   ENSP00000358034   ENSP00000271643   ENSP00000358035  
    Reactome Protein details: Q6UY14

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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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    3 InterPro protein domains:
     IPR000884 Thrombospondin_1_rpt
     IPR010909 PLAC
     IPR010294 ADAM_spacer1

    Graphical View of Domain Structure for InterPro Entry Q6UY14

    ProtoNet protein and cluster: Q6UY14

    1 Blocks protein domain: IPB000884 Thrombospondin

    UniProtKB/Swiss-Prot: ATL4_HUMAN, Q6UY14
    Similarity: Contains 1 PLAC domain
    Similarity: Contains 6 TSP type-1 domains


    ADAMTSL4 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,
    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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: ATL4_HUMAN, Q6UY14
    Function: Positive regulation of apoptosis. May facilitate FBN1 microfibril biogenesis

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0002020protease binding IPI16364318
    GO:0004222metalloendopeptidase activity IEA--
    GO:0005515protein binding IPI16189514
    GO:0008233peptidase activity ----
         
    ADAMTSL4 for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for ADAMTSL4:
     G0/1 arrest  Increased G1 DNA content 

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for ADAMTSL4
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    miRNA
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    miRTarBase miRNAs that target ADAMTSL4:
    hsa-mir-1 (MIRT023704)

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    8 qRT-PCR Assays for microRNAs that regulate ADAMTSL4:
    hsa-miR-148b* hsa-miR-34c-5p hsa-miR-449b hsa-miR-449a hsa-miR-4314 hsa-miR-34a hsa-miR-3168 hsa-miR-3714
    SwitchGear 3'UTR luciferase reporter plasmidADAMTSL4 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
    ATL4_HUMAN, Q6UY14: Secreted, extracellular space, extracellular matrix. Note=Colocalizes with FMN1 microfibrils
    in the eye ECM
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    extracellular5
    plasma membrane2
    cytosol1
    lysosome1

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005575cellular_component ND--
    GO:0005614interstitial matrix IEA--
    GO:0031012extracellular matrix ----

    ADAMTSL4 for ontologies           About GeneDecksing


    (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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    Pathways by sourceSee SuperPaths
    Show all pathways


    1 Reactome Pathway for ADAMTSL4
        O-glycosylation of TSR domain-containing proteins



    ADAMTSL4 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for ADAMTSL4
    Interactions:

        Search GeneGlobe Interaction Network for ADAMTSL4

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for ADAMTSL4 (Q6UY141, 3 ENSP000002716434) via UniProtKB, MINT, STRING, and/or I2D (see all 47)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    STK16O757161, 3, ENSP000003799644EBI-742002,EBI-749295 I2D: score=4 STRING: ENSP00000379964
    CTSBP078581, 3, ENSP000003420704EBI-742002,EBI-715062 I2D: score=2 STRING: ENSP00000342070
    SORBS3O605043, ENSP000002401234I2D: score=5 STRING: ENSP00000240123
    CATSPER1Q8NEC53, ENSP000003090524I2D: score=4 STRING: ENSP00000309052
    DNPEPQ9ULA03, ENSP000002730754I2D: score=4 STRING: ENSP00000273075
    About this table

    Gene Ontology (GO): 3 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006915apoptotic process IEA--
    GO:0030198extracellular matrix organization IEA--
    GO:0043065positive regulation of apoptotic process IDA16364318

    ADAMTSL4 for ontologies           About GeneDecksing



    (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 ADAMTSL4 (ATL4)



    (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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for ADAMTSL4 gene (4 alternative transcripts): 
    NM_001288607.1  NM_001288608.1  NM_019032.5  NM_025008.4  

    Unigene Cluster for ADAMTSL4:

    ADAMTS-like 4
    Hs.516243  [show with all ESTs]
    Unigene Representative Sequence: NM_019032
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000369041(uc001euw.3) ENST00000483335 ENST00000369038 ENST00000489159(uc009wlx.3)
    ENST00000271643(uc001eux.3 uc009wlw.3 uc010pcg.2) ENST00000369039

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    8 qRT-PCR Assays for microRNAs that regulate ADAMTSL4:
    hsa-miR-148b* hsa-miR-34c-5p hsa-miR-449b hsa-miR-449a hsa-miR-4314 hsa-miR-34a hsa-miR-3168 hsa-miR-3714
    SwitchGear 3'UTR luciferase reporter plasmidADAMTSL4 3' UTR sequence
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    Additional mRNA sequence: 

    AF217974.1 AF370411.1 AK092509.1 AK127688.1 AK293037.1 AL122085.1 AY358122.1 BC027478.1 
    BC071852.1 BC094811.1 BC140800.1 BC144581.1 BX647294.1 

    8 DOTS entries:

    DT.447629  DT.75124018  DT.95084213  DT.95371825  DT.100754489  DT.100760168  DT.121384248  DT.92030207 

    Selected AceView cDNA sequences (see all 155):

    AA379069 BQ933239 AV696229 BC027478 BM721520 AL122085 CA306103 CA306037 
    BC071852 AI359784 AA604342 BX282114 CB988088 BX099809 CR598356 NM_019032 
    CR599036 CR592841 BF870887 BX349010 AW015289 H94740 BX647294 CF131771 

    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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    ADAMTSL4 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    ADAMTSL4 Expression
    About this image


    ADAMTSL4 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 6) fully expand
     
     Skeletal Muscle (Muscoskeletal System)    fully expand to see all 2 entries
             Muscle Progenitor Cells Mandibular Arch Muscles
     
     Brain (Nervous System)    fully expand to see all 2 entries
             Myelinating Oligodendrocyte Cells Forebrain White Matter
     
     Ovary (Reproductive System)
             Granulosa Cells Primary Follicle
     
     Umbilical Cord (Extraembryonic Tissues)
             Umbilical Veins
     
     Endothelium (Cardiovascular System)
             Adult Endothelial Cells Blood Brain Barrier
    ADAMTSL4 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ADAMTSL4 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.516243

    UniProtKB/Swiss-Prot: ATL4_HUMAN, Q6UY14
    Tissue specificity: Expressed in colon, heart, leukocyte, liver, lung, skeletal muscle, spleen, testis and
    placenta. Weaker expression in bone marrow, brain tissue, kidney and pancreas. Expression studies in fetal
    tissues reveal strong expression in heart, kidney, liver, lung and skeletal muscle, but weaker expression in
    fetal brain and skin

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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 animals.

    Orthologs for ADAMTSL4 gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Adamtsl41 , 5 ADAMTS-like 41, 5 82.3(n)1
    80.04(a)1
      3 (40.74 cM)5
    2295951  NM_144899.21  NP_659148.21 
     956762015 
    chicken
    (Gallus gallus)
    Aves --
    Uncharacterized protein
    25(a)
    many ↔ many
    8(6070282-6084211)
    lizard
    (Anolis carolinensis)
    Reptilia ADAMTSL46
    ADAMTS-like 4
    50(a)
    1 ↔ 1
    GL343616.1(126064-185795)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia adamtsl41 ADAMTS-like 4 56.28(n)
    53.37(a)
      100488255  XM_002935457.2  XP_002935503.1 
    zebrafish
    (Danio rerio)
    Actinopterygii LOC1003339031 thrombospondin type-1 domain-containing protein 4-like 56.71(n)
    50.3(a)
      100333903  XM_002664765.3  XP_002664811.3 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG62326
    --
    25(a)
    1 → many
    2L(10442727-10450080)


    ENSEMBL Gene Tree for ADAMTSL4 (if available)
    TreeFam Gene Tree for ADAMTSL4 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for ADAMTSL4 gene
    ADAMTS72  ADAMTS132  ADAMTS122  THSD42  ADAMTSL22  PAPLN2  ADAMTSL52  ADAMTSL12  
    ENSG000002156162  ADAMTSL32  
    3 SIMAP similar genes for ADAMTSL4 using alignment to 4 protein entries:     ATL4_HUMAN (see all proteins):
    DKFZp434K1772    ADAMTS16    THSD4

    ADAMTSL4 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), 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 ADAMTSL4 (see all 418)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1182039851,2
    Cpathogenic1157030864(+) TTTTAG/TCAGTA 4 * Y stg10--------
    rs667036031,2
    C--150528091(+) ACAGA-/ACAC  
            
    CACAT
    2 -- int10--------
    rs679077551,2
    C--150528119(+) ATGTA-/ACAC  
            
    CACAC
    2 -- int10--------
    rs286306531,2
    --150528178(+) GCGCAC/GAGACA 2 -- int10--------
    rs591808381,2
    C--150528196(+) ACACG-/CACACAC 2 -- int10--------
    rs343790371,2
    C--150529322(+) CCTCTAA/-GGGCA 2 -- int14Minor allele frequency- -:0.10NA CSA 10
    rs677679891,2
    C--150529323(+) CTCTG-/AAGGCAG 2 -- int10--------
    rs1996350481,2
    C--157021474(+) CGAGG-/TCTCTCT 2 -- us2k10--------
    rs1384593991,2
    --157021660(+) CACGCC/TTATAA 2 -- us2k10--------
    rs727008221,2
    C,F--157026290(+) GGGAGG/AGGCAG 2 -- int12Minor allele frequency- A:0.10NA 122

    HapMap Linkage Disequilibrium report for ADAMTSL4 (150521884 - 150533413 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for ADAMTSL4:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv527379CNV Loss19592680

    Human Gene Mutation Database (HGMD): ADAMTSL4
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing ADAMTSL4
    DNA2.0 Custom Variant and Variant Library Synthesis for ADAMTSL4

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 610113   
    OMIM disorders: 225100  225200  
    UniProtKB/Swiss-Prot: ATL4_HUMAN, Q6UY14
  • Ectopia lentis 2, isolated, autosomal recessive (ECTOL2) [MIM:225200]: An ocular abnormality
    characterized by partial or complete displacement of the lens from its space resulting from defective zonule
    formation. Note=The disease is caused by mutations affecting the gene represented in this entry
  • Ectopia lentis et pupillae (ECTOLP) [MIM:225200]: An ocular abnormality characterized by displacement of
    the lenses and the pupils, associated with other ocular anomalies, but without systemic manifestations. The
    condition is usually bilateral, with the lenses and pupils displaced in opposite directions. Additional signs
    include enlarged corneal diameter, increased corneal astigmatism, increased anterior chamber depth, thinning and
    flattening of the iris with loss of crypts, angle malformation caused by enlarged iris processes, persistent
    pupillary membrane, loss of zonular fibers, tilted disk, and increased axial length. Secondary manifestations
    include refractive errors, glaucoma, early cataract development, and retinal detachment. Membrane formation on
    the posterior aspect of the iris has been observed both in histologic sections and on ultrasound biomicroscopy.
    Note=The disease is caused by mutations affecting the gene represented in this entry

  • 14 diseases for ADAMTSL4:    
    About MalaCards
    adamtsl4-related eye disorders    ectopia lentis, isolated autosomal recessive    ectopia lentis et pupillae    ectopia lentis, isolated
    ectopia lentis, familial    weill-marchesani syndrome    retinal detachment    craniosynostosis
    retinitis    ovarian cancer    multiple myeloma    myeloma
    neuronitis    endotheliitis

    1 disease from the University of Copenhagen DISEASES database for ADAMTSL4:
    Weill-Marchesani syndrome

    ADAMTSL4 for disorders           About GeneDecksing


    Export disorders for ADAMTSL4 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 ADAMTSL4 gene, integrated from 10 sources (see all 31):
    (articles sorted by number of sources associating them with ADAMTSL4)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. TSRC1, a widely expressed gene containing seven thrombospondin type I repeats. (PubMed id 12706885)1, 2, 3, 9 Buchner D.A. and Meisler M.H. (Gene 2003)
    2. ADAMTSL4, a secreted glycoprotein widely distributed in the eye, binds Fibrillin-1 microfibrils and accelerates microfibril biogenesis. (PubMed id 21989719)1, 2 Gabriel L.A.... Apte S.S. (Invest. Ophthalmol. Vis. Sci. 2012)
    3. A novel ADAMTSL4 mutation in autosomal recessive ectopia lentis et pupillae. (PubMed id 20702823)1, 2 Christensen A.E....dahl E. (amp 2010)
    4. A homozygous mutation in ADAMTSL4 causes autosomal-recessive isolated ectopia lentis. (PubMed id 19200529)1, 2 Ahram D.... El-Shanti H. (Am. J. Hum. Genet. 2009)
    5. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)1, 2 Gregory S.G.... Bentley D.R. (Nature 2006)
    6. Cathepsin B and its interacting proteins, bikunin and TSRC1, correlate with TNF-induced apoptosis of ovarian cancer cells OV-90. (PubMed id 16364318)1, 2 Liu J.... Li Y.-Y. (FEBS Lett. 2006)
    7. Human plasma N-glycoproteome analysis by immunoaffinity subtraction, hydrazide chemistry, and mass spectrometry. (PubMed id 16335952)1, 2 Liu T.... Smith R.D. (J. Proteome Res. 2005)
    8. Large-scale cDNA transfection screening for genes related to cancer development and progression. (PubMed id 15498874)1, 2 Wan D....Gu J. (Proc. Natl. Acad. Sci. U.S.A. 2004)
    9. 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)
    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. (Genome Res. 2003)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    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)
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    Entrez Gene: 54507 HGNC: 19706 AceView: TSRC1 Ensembl:ENSG00000143382 euGenes: HUgn54507
    ECgene: ADAMTSL4 H-InvDB: ADAMTSL4

    (According to HUGE)
    About This Section

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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)
    About This Section

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    NameDescription
    PharmGKB entry for ADAMTSL4 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

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    Patent Information for ADAMTSL4 gene:
    Search GeneIP for patents involving ADAMTSL4

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



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