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

TLL1 Gene

protein-coding   GIFtS: 64
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)
About This Section

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

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, and among its related super-pathways are Collagen formation. 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000004.11  NT_016354.19  NC_018915.2  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for TLL1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 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: 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)
Subcellular location: Secreted (Probable)
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:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_O43897

  • 4/41 DME Specific Peptides for TLL1 (O43897) (see all 41)
     YLEVRDG  WEKHTCV  KDNGGCQ  YEAICGG 

    TLL1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    TLL1 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_001191689.1  NP_036596.3  

    ENSEMBL proteins: 
     ENSP00000061240   ENSP00000422692   ENSP00000426082   ENSP00000421732   ENSP00000422937  
     ENSP00000423748  
    Reactome Protein details: O43897
    Human Recombinant Protein Products for TLL1: 
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    Cloud-Clone Corp. Proteins for TLL1 

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

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

    TLL1 for ontologies           About GeneDecksing



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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)
    About This Section
    5/10 InterPro protein domains (see all 10):
     IPR000859 CUB_dom
     IPR015446 BMP_1/tolloid-like
     IPR024079 MetalloPept_cat_dom
     IPR001881 EGF-like_Ca-bd
     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,
    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

    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): 5/6 molecular function terms (GO ID links to tree view) (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 - Custom generated mouse model solutions for TLL1 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions 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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    8/64 QIAGEN miScript miRNA 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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    (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 TLL1 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Collagen biosynthesis and modifying enzymes
    Collagen biosynthesis and modifying enzymes0.74
    Assembly of collagen fibrils and other multimeric structures0.65
    Collagen formation0.74
    Extracellular matrix organization0.39
    2Crosslinking of collagen fibrils
    Crosslinking of collagen fibrils
    3Anchoring fibril formation
    Anchoring fibril formation

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    5/6        Reactome Pathways for TLL1 (see all 6)
        Anchoring fibril formation
    Extracellular matrix organization
    Collagen biosynthesis and modifying enzymes
    Assembly of collagen fibrils and other multimeric structures
    Crosslinking of collagen fibrils



    TLL1 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for TLL1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 6)

    5/10 Interacting proteins for TLL1 (O438973 ENSP000000612404) via UniProtKB, MINT, STRING, and/or I2D (see all 10)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CHRDQ9H2X03, ENSP000002046044I2D: score=4 STRING: ENSP00000204604
    LIMK1P536673I2D: score=5 
    BMP4P126443I2D: score=2 
    PRKAR1AP106443I2D: score=1 
    SFRP2Q96HF13I2D: score=1 
    About this table

    Gene Ontology (GO): 4 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001501skeletal system development TAS8661043
    GO:0006508proteolysis IEA--
    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 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
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for TLL1

    Search CenterWatch for drugs/clinical trials and news about 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,
    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 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

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    8/64 QIAGEN miScript miRNA 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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      QIAGEN 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 

    24/28 AceView cDNA sequences (see all 28):

    NM_012464 BU607435 BF116025 U91963 BC016922 BX953475 BF514090 BG036199 
    BQ883634 AF282732 BG679354 BM955943 BF197128 AK021908 AU119801 BI603023 
    BG497965 AI659084 AI823951 AI769310 BI669329 H10689 R21925 BU753788 

    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™, 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

    TLL1 expression in normal human tissues (normalized intensities)      TLL1 embryonic expression: see
    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 
     5/3 selected tissues (see all 3) fully expand
     
     Heart (Cardiovascular System)    fully expand to see all 9 entries
             Ventricular Septum Cells Interventricular Septum
             Coronary Vessels
             heart/atrium/left atrium   
     
     Pancreas (Endocrine System)
             Posterior foregut-like cells ( A scalable, suspension protocol for derivation of...
     
     Brain (Nervous System)
             Cerebellum

    See TLL1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for TLL1

    SOURCE GeneReport for Unigene cluster: Hs.106513
        SABiosciences Custom PCR Arrays for TLL1
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    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat TLL1
    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)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for TLL1 gene from 7/15 species (see all 15)    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 83.07(n)
    88.82(a)
      395441  NM_204703.1  NP_990034.1 
    lizard
    (Anolis carolinensis)
    Reptilia TLL16
    Uncharacterized protein
    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
    54.74(n)1
    53.43(a)1
      429441  NM_057531.31  NP_476879.11 
    worm
    (Caenorhabditis elegans)
    Secernentea F38E9.23
    nas-391
    Protein NAS-391 41(a)
    (best of 7)3
    51.86(n)1
    47.59(a)1
      X(16488260-16501950)3
    35659861  NM_078271.31  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)
    About This Section
    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) 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

    10/5303 SNPs in TLL1 are shown (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) 10/14 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
    SABiosciences Cancer Mutation 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.)
    About This Section
    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

  • 6 diseases for TLL1:    About MalaCards
    atrial septal defect 6    heart septal defect    atrial heart septal defect    patent ductus arteriosus
    neuroblastoma    hypoxia

    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)
    About This Section

    PubMed articles for TLL1 gene, integrated from 9 sources (see all 24):
    (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. (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. (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. (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. (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. (2001)
    6. Bone morphogenetic protein-1 processes probiglycan. (PubMed id 10896944)1, 2 Scott I.C.... Greenspan D.S. (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. (1999)
    8. Assignment of TLL1 and TLL2, which encode human BMP-1/Tolloid-related metalloproteases, to chromosomes 4q32-->q33 and 10q23-->q24 and assignment of murine Tll2 to chromosome 19. (PubMed id 10516436)1, 3 Scott I.C....Greenspan D.S. (1999)
    9. A genome-wide association study of brain lesion distri bution in multiple sclerosis. (PubMed id 23412934)1 Gourraud P.A....Baranzini S.E. (2013)
    10. [Metalloproteinase Tolloid-like 1 gene mutation in Chi nese patients with sporadic congenital heart diseases]. (PubMed id 22883091)1 Li J....Ma G.S. (2012)

    (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)
    About This Section
    Entrez Gene: 7092 HGNC: 11843 AceView: TLL1 Ensembl:ENSG00000038295 euGenes: HUgn7092
    ECgene: TLL1 H-InvDB: TLL1

    (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 TLL1 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 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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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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