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TLL1 Gene

protein-coding   GIFtS: 65
GCID: GC04P166794

Tolloid-Like 1

  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
Tolloid-Like 11 2     EC 3.4.24.-3
TLL2 3 5     EC 3.4.248
ASD62 5     EC 3.4.24.198
Tolloid-Like Protein 12     

External Ids:    HGNC: 118431   Entrez Gene: 70922   Ensembl: ENSG000000382957   OMIM: 6067425   UniProtKB: O438973   

Export aliases for TLL1 gene to outside databases

Previous GC identifers: GC04P167646 GC04P167222 GC04P167372 GC04P167152 GC04P167013 GC04P162546


(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 TLL1 Gene:
This gene encodes an astacin-like, zinc-dependent, metalloprotease that belongs to the peptidase M12A family. This
protease processes procollagen C-propeptides, such as chordin, pro-biglycan and pro-lysyl oxidase. Studies in
mice suggest that this gene plays multiple roles in the development of mammalian heart, and is essential for the
formation of the interventricular septum. Allelic variants of this gene are associated with atrial septal defect
type 6. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.
(provided by RefSeq, Mar 2011)

GeneCards Summary for TLL1 Gene:
TLL1 (tolloid-like 1) is a protein-coding gene. Diseases associated with TLL1 include atrial septal defect 6, and heart septal defect. GO annotations related to this gene include collagen binding and calcium ion binding. An important paralog of this gene is TLL2.

UniProtKB/Swiss-Prot: TLL1_HUMAN, O43897
Function: Protease which processes procollagen C-propeptides, such as chordin, pro-biglycan and pro-lysyl oxidase.
Required for the embryonic development. Predominant protease, which in the development, influences dorsal-ventral
patterning and skeletogenesis

Gene Wiki entry for TLL1 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_000004.12  NT_016354.20  NC_018915.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the TLL1 gene promoter:
         GR   AML1a   HNF-3beta   AREB6   MEF-2A   FOXO4   COMP1   GR-alpha   aMEF-2   Pax-4a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidTLL1 promoter sequence
   Search Chromatin IP Primers for TLL1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat TLL1


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

Entrez Gene cytogenetic band: 4q32-q33   Ensembl cytogenetic band:  4q32.3   HGNC cytogenetic band: 4q32-q33

TLL1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TLL1 gene location

GeneLoc information about chromosome 4         GeneLoc Exon Structure

GeneLoc location for GC04P166794:  view genomic region     (about GC identifiers)

Start:
166,794,410 bp from pter      End:
167,025,609 bp from pter
Size:
231,200 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: TLL1_HUMAN, O43897 (See protein sequence)
Recommended Name: Tolloid-like protein 1 precursor  
Size: 1013 amino acids; 114709 Da
Cofactor: Binds 1 zinc ion per subunit (By similarity)
1 PDB 3D structure from and Proteopedia for TLL1:
3EDI (3D)    
Secondary accessions: B2RMU2 Q96AN3 Q9NQS4
Alternative splicing: 2 isoforms:  O43897-1   O43897-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for TLL1: NX_O43897

Explore proteomics data for TLL1 at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn169, Asn359, Asn390, Asn626
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for TLL1 (O43897) (see all 41)
     YLEVRDG  WEKHTCV  KDNGGCQ  YEAICGG 


    See TLL1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001191689.1  NP_036596.3  

    ENSEMBL proteins: 
     ENSP00000061240   ENSP00000422692   ENSP00000426082   ENSP00000421732   ENSP00000422937  
     ENSP00000423748  
    Reactome Protein details: O43897

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    Novus Biologicals TLL1 Lysates
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    Cloud-Clone Corp. CLIAs for TLL1


    (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 10):
     IPR000859 CUB_dom
     IPR015446 BMP_1/tolloid-like
     IPR024079 MetalloPept_cat_dom
     IPR001881 EGF-like_Ca-bd_dom
     IPR000742 EG-like_dom

    Graphical View of Domain Structure for InterPro Entry O43897

    ProtoNet protein and cluster: O43897

    2 Blocks protein domains:
    IPB000859 CUB domain
    IPB001506 Astacin family signature


    UniProtKB/Swiss-Prot: TLL1_HUMAN, O43897
    Similarity: Belongs to the peptidase M12A family
    Similarity: Contains 5 CUB domains
    Similarity: Contains 2 EGF-like domains


    TLL1 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: TLL1_HUMAN, O43897
    Function: Protease which processes procollagen C-propeptides, such as chordin, pro-biglycan and pro-lysyl oxidase.
    Required for the embryonic development. Predominant protease, which in the development, influences dorsal-ventral
    patterning and skeletogenesis

         Genatlas biochemistry entry for TLL1:
    tolloid-like gene 1,astacin-like matalloprotease necessary for normal septation and positioning of the heart

         Enzyme Numbers (IUBMB): EC 3.4.24.-1 EC 3.4.24.192 EC 3.4.242

         Gene Ontology (GO): Selected molecular function terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004222metalloendopeptidase activity IEA--
    GO:0005509calcium ion binding IEA--
    GO:0005515protein binding ----
    GO:0005518collagen binding IEA--
    GO:0008237metallopeptidase activity ----
         
    TLL1 for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for TLL1:
     Increased G1 DNA content  Increased HPV18 LCR reporter a 

         5 MGI mutant phenotypes (inferred from 1 allele(MGI details for Tll1):
     cardiovascular system  homeostasis/metabolism  integument  liver/biliary system  mortality/aging 

    TLL1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Tll1tm1Dgr for TLL1

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for TLL1
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for TLL1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for TLL1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for TLL1

    miRNA
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    miRTarBase miRNAs that target TLL1:
    hsa-mir-335-5p (MIRT017300)

    Block miRNA regulation of human, mouse, rat TLL1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate TLL1 (see all 64):
    hsa-miR-579 hsa-miR-4328 hsa-miR-15a hsa-miR-29a hsa-miR-503 hsa-miR-29b-1* hsa-miR-105 hsa-miR-183*
    SwitchGear 3'UTR luciferase reporter plasmidTLL1 3' UTR sequence
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for TLL1
    Predesigned siRNA for gene silencing in human, mouse, rat TLL1

    Gene Editing
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    GenScript: all cDNA clones in your preferred vector (see all 2): TLL1 (NM_012464)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for TLL1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TLL1

    Cell Line
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    Browse ESI BIO Cell Lines and PureStem Progenitors for TLL1 
    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TLL1


    (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
    TLL1_HUMAN, O43897: Secreted (Probable)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    extracellular4
    cytosol1
    lysosome1
    peroxisome1
    plasma membrane1

    Gene Ontology (GO): 1 cellular component term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region TAS--

    TLL1 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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    SuperPaths for TLL1 About    
    See pathways by source

    SuperPathContained pathways About
    1Collagen biosynthesis and modifying enzymes
    Collagen biosynthesis and modifying enzymes0.75
    Anchoring fibril formation0.00
    Collagen formation0.75
    Crosslinking of collagen fibrils0.00
    Assembly of collagen fibrils and other multimeric structures0.62
    2Degradation of the extracellular matrix
    Degradation of the extracellular matrix0.43
    Extracellular matrix organization0.34

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    4 Reactome Pathways for TLL1
        Anchoring fibril formation
    Collagen biosynthesis and modifying enzymes
    Crosslinking of collagen fibrils
    Degradation of the extracellular matrix



    TLL1 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for TLL1
    Interactions:

        Search GeneGlobe Interaction Network for TLL1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 9)

    Selected Interacting proteins for TLL1 (O438973 ENSP000000612404) via UniProtKB, MINT, STRING, and/or I2D (see all 11)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CHRDQ9H2X03, ENSP000002046044I2D: score=4 STRING: ENSP00000204604
    BMP4P126443, ENSP000002454514I2D: score=2 STRING: ENSP00000245451
    SFRP2Q96HF13, ENSP000002740634I2D: score=1 STRING: ENSP00000274063
    LIMK1P536673I2D: score=5 
    PRKAR1AP106443I2D: score=1 
    About this table

    Gene Ontology (GO): 5 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001501skeletal system development TAS8661043
    GO:0006508proteolysis ----
    GO:0022617extracellular matrix disassembly TAS--
    GO:0030154cell differentiation IEA--
    GO:0030198extracellular matrix organization TAS--

    TLL1 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 TLL1



    (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 TLL1 gene (2 alternative transcripts): 
    NM_001204760.1  NM_012464.4  

    Unigene Cluster for TLL1:

    Tolloid-like 1
    Hs.106513  [show with all ESTs]
    Unigene Representative Sequence: NM_012464
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000061240(uc003irh.2 uc011cjn.2 uc011cjo.2) ENST00000509505
    ENST00000507499 ENST00000504560 ENST00000513213(uc021xud.1) ENST00000506144

    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat TLL1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate TLL1 (see all 64):
    hsa-miR-579 hsa-miR-4328 hsa-miR-15a hsa-miR-29a hsa-miR-503 hsa-miR-29b-1* hsa-miR-105 hsa-miR-183*
    SwitchGear 3'UTR luciferase reporter plasmidTLL1 3' UTR sequence
    Inhib. RNA
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    Clone
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    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): TLL1 (NM_012464)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for TLL1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TLL1
    Primer
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat TLL1
      QuantiTect SYBR Green Assays in human, mouse, rat TLL1
      QuantiFast Probe-based Assays in human, mouse, rat TLL1

    Additional mRNA sequence: 

    AF282732.1 AK021908.1 BC016922.2 BC136429.1 BC136430.1 BC144084.1 BC144085.1 U91963.1 

    5 DOTS entries:

    DT.92055166  DT.100736121  DT.91963620  DT.121255495  DT.91750919 

    Selected AceView cDNA sequences (see all 28):

    BX953475 NM_012464 U91963 BF514090 BU607435 BC016922 BF116025 BM955943 
    BF197128 BG036199 BG679354 AK021908 AU119801 BQ883634 AF282732 BI603023 
    BI669329 BG497965 AI769310 AI659084 AI823951 BU753788 H10689 R33954 

    GeneLoc Exon Structure

    3 Alternative Splicing Database (ASD) splice patterns (SP) for TLL1    About this scheme

    ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^ 23
    SP1:                    -                                                     -                                                                           
    SP2:                    -                                                                                                                                 
    SP3:                                                                                                                                                      


    ECgene alternative splicing isoforms for TLL1

    (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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    TLL1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AATTTATAAA
    TLL1 Expression
    About this image


    TLL1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 4) fully expand
     
     Heart (Cardiovascular System)    fully expand to see all 9 entries
             Ventricular Septum Cells Interventricular Septum
             Coronary Vessels
             heart/atrium/left atrium   
     
     Neural Tube (Nervous System)
             Neural rosettes
     
     Neural Ectoderm (Nervous System)
             N2-induced embryoid bodies
     
     Brain (Nervous System)
             Cerebellum
    TLL1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    TLL1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.106513
        Custom PCR Arrays for TLL1
    Primer
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TLL1

    (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 TLL1 gene from Selected species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Tll11 , 5 tolloid-like1, 5 88.7(n)1
    93.77(a)1
      8 (32.19 cM)5
    218921  NM_009390.21  NP_033416.21 
     640147705 
    chicken
    (Gallus gallus)
    Aves TLL11 tolloid-like 1 82.9(n)
    88.39(a)
      395441  NM_204703.1  NP_990034.1 
    lizard
    (Anolis carolinensis)
    Reptilia TLL16
    tolloid-like 1
    88(a)
    1 ↔ 1
    GL343317.1(508013-643221)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.165982 Xenopus laevis xolloid-like metalloprotease mRNA, complete more 79.72(n)    AF393242.1 
    zebrafish
    (Danio rerio)
    Actinopterygii bmp12 bone morphogenetic protein 1 77.59(n)   30204  AF027596.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta tok1 , 3 procollagen C-endopeptidase3
    tolkin1
    51(a)
    (best of 2)3
    54.88(n)1
    53.6(a)1
      429441  NM_170168.11  NP_733035.11 
    worm
    (Caenorhabditis elegans)
    Secernentea F38E9.23
    nas-391
    nas-391 41(a)
    (best of 7)3
    51.94(n)1
    47.71(a)1
      X(16488260-16501950)3
    35659861  NM_078271.41  NP_510672.21 


    ENSEMBL Gene Tree for TLL1 (if available)
    TreeFam Gene Tree for TLL1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for TLL1 gene
    TLL22  CUBN2  CDCP22  PCOLCE2  BMP12  PCOLCE22  NETO22  MFRP2  
    NETO12  
    12 SIMAP similar genes for TLL1 using alignment to 6 protein entries:     TLL1_HUMAN (see all proteins):
    TLL2    BMP1    DKFZp781F1053    C1S    MASP1    CUBN
    NRP2    DCBLD2    NRP1    C1R    DKFZp686L21135    PCOLCE2

    TLL1 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for TLL1
    PGOHUM00000250987


    (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 TLL1 (see all 5303)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 4 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0625194
    Atrial septal defect 6 (ASD6)4--see VAR_0625192 M L mis40--------
    VAR_0625214
    Atrial septal defect 6 (ASD6)4--see VAR_0625212 I V mis40--------
    VAR_0625204
    Atrial septal defect 6 (ASD6)4--see VAR_0625202 V A mis40--------
    VAR_0361424
    A breast cancer sample4--see VAR_0361422 L V mis40--------
    rs1378529511,2
    Cpathogenic1166705945(+) AGGCCA/C/GTGAGG 4 M L mis11NA 4550
    rs1378529521,2
    C,Fpathogenic1166714326(+) GATTGT/CTGTTC 4 /A /V mis12Minor allele frequency- C:0.00NA EU 5873
    rs346738531,2
    C--162549677(+) GAGTC-/AAAAAA 2 -- int12Minor allele frequency- A:0.00NA CSA 4
    rs342486571,2
    C--162568009(+) GATGA-/GTGTGTG 2 -- int10--------
    rs1384431131,2
    C--162572301(+) AGTGG-/TCTA  
            
    TCTAT
    2 -- int10--------
    rs355995541,2
    C--162574169(+) TGATAT/-TTTTT 2 -- int12Minor allele frequency- -:0.25NA 4

    HapMap Linkage Disequilibrium report for TLL1 (166794410 - 167025609 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for TLL1 (see all 14):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2673253CNV Deletion23128226
    nsv821532CNV Deletion20802225
    esv4074CNV Deletion18987735
    esv2728689CNV Deletion23290073
    esv1005389CNV Insertion20482838
    nsv4590CNV Insertion18451855
    nsv291079CNV Insertion16902084
    esv22616CNV Loss19812545
    nsv830142CNV Loss17160897
    nsv292670CNV Loss16902084

    Human Gene Mutation Database (HGMD): TLL1
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing TLL1
    DNA2.0 Custom Variant and Variant Library Synthesis for TLL1

    (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: 606742   
    OMIM disorders: 613087  
    UniProtKB/Swiss-Prot: TLL1_HUMAN, O43897
  • Atrial septal defect 6 (ASD6) [MIM:613087]: A congenital heart malformation characterized by incomplete
    closure of the wall between the atria resulting in blood flow from the left to the right atria. Note=The disease
    is caused by mutations affecting the gene represented in this entry

  • 18 diseases for TLL1:    
    About MalaCards
    atrial septal defect 6    heart septal defect    atrial heart septal defect    atrial septal defect 8
    patent ductus arteriosus    pulmonary function    sinusitis    coronary artery disease
    breast and colorectal cancer    multiple sclerosis    neuroblastoma    hypoxia
    retinitis    obesity    colorectal cancer    multiple myeloma
    myeloma    malaria

    2 diseases from the University of Copenhagen DISEASES database for TLL1:
    Atrial heart septal defect     Patent ductus arteriosus

    TLL1 for disorders           About GeneDecksing

    Genetic Association Database (GAD): TLL1
    Human Genome Epidemiology (HuGE) Navigator: TLL1 (1 document)

    Export disorders for TLL1 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 TLL1 gene, integrated from 10 sources (see all 25):
    (articles sorted by number of sources associating them with TLL1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Mutations in mammalian tolloid-like 1 gene detected in adult patients with ASD. (PubMed id 18830233)1, 2, 9 Stanczak P.... Sieron A.L. (Eur. J. Hum. Genet. 2009)
    2. Structural basis for the substrate specificity of bone morphogenetic protein 1/tolloid-like metalloproteases. (PubMed id 18824173)1, 2, 9 Mac Sweeney A.... Gerhartz B. (J. Mol. Biol. 2008)
    3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (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. Multiple bone morphogenetic protein 1-related mammalian metalloproteinases process pro-lysyl oxidase at the correct physiological site and control lysyl oxidase activation in mouse embryo fibroblast cultures. (PubMed id 11313359)1, 2 Uzel M.I.... Trackman P.C. (J. Biol. Chem. 2001)
    6. Bone morphogenetic protein-1 processes probiglycan. (PubMed id 10896944)1, 2 Scott I.C.... Greenspan D.S. (J. Biol. Chem. 2000)
    7. Mammalian BMP-1/Tolloid-related metalloproteinases, including novel family member mammalian Tolloid-like 2, have differential enzymatic activities and distributions of expression relevant to patterning and skeletogenesis. (PubMed id 10479448)1, 2 Scott I.C....Greenspan D.S. (Dev. Biol. 1999)
    8. Assignment of TLL1 and TLL2, which encode human BMP-1/Tolloid-related metalloproteases, to chromosomes 4q32--&gt;q33 and 10q23--&gt;q24 and assignment of murine Tll2 to chromosome 19. (PubMed id 10516436)1, 3 Scott I.C....Greenspan D.S. (Cytogenet. Cell Genet. 1999)
    9. A genome-wide association study of brain lesion distribution in multiple sclerosis. (PubMed id 23412934)1 Gourraud P.A....Baranzini S.E. (Brain 2013)
    10. Genome-wide association study identifies new susceptibility loci for posttraumatic stress disorder. (PubMed id 23726511)1 Xie P....Gelernter J. (Biol. Psychiatry 2013)

    (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: 7092 HGNC: 11843 AceView: TLL1 Ensembl:ENSG00000038295 euGenes: HUgn7092
    ECgene: TLL1 H-InvDB: TLL1

    (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 TLL1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for TLL1 gene:
    Search GeneIP for patents involving TLL1

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



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