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TLN1 Gene

protein-coding   GIFtS: 64
GCID: GC09M035687

Talin 1


(Previous symbol: TLN)
  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
Talin 11 2
TLN1 2 3
ILWEQ2
talin-12
KIAA10273

External Ids:    HGNC: 118451   Entrez Gene: 70942   Ensembl: ENSG000001370767   OMIM: 1867455   UniProtKB: Q9Y4903   

Export aliases for TLN1 gene to outside databases

Previous GC identifers: GC09M036009 GC09M035866


(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 TLN1 Gene:
This gene encodes a cytoskeletal protein that is concentrated in areas of cell-substratum and cell-cell contacts.
The encoded protein plays a significant role in the assembly of actin filaments and in spreading and migration of
various cell types, including fibroblasts and osteoclasts. It codistributes with integrins in the cell surface
membrane in order to assist in the attachment of adherent cells to extracellular matrices and of lymphocytes to
other cells. The N-terminus of this protein contains elements for localization to cell-extracellular matrix
junctions. The C-terminus contains binding sites for proteins such as beta-1-integrin, actin, and vinculin.
(provided by RefSeq, Feb 2009)

GeneCards Summary for TLN1 Gene:
TLN1 (talin 1) is a protein-coding gene. Diseases associated with TLN1 include embryonal rhabdomyosarcoma, and rhabdomyosarcoma. GO annotations related to this gene include actin binding and insulin receptor binding. An important paralog of this gene is TLN2.

UniProtKB/Swiss-Prot: TLN1_HUMAN, Q9Y490
Function: Probably involved in connections of major cytoskeletal structures to the plasma membrane. High molecular
weight cytoskeletal protein concentrated at regions of cell-substratum contact and, in lymphocytes, at cell-cell
contacts (By similarity)

Gene Wiki entry for TLN1 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_000009.12  NT_008413.19  NC_018920.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the TLN1 gene promoter:
         AP-2alpha isoform 3   AP-1   STAT5A   Nkx2-5   AP-2alpha isoform 2   c-Ets-1   C/EBPalpha   AP-2alpha isoform 4   AP-2alpha   AP-2alphaA   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidTLN1 promoter sequence
   Search Chromatin IP Primers for TLN1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat TLN1


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

Entrez Gene cytogenetic band: 9p13   Ensembl cytogenetic band:  9p13.3   HGNC cytogenetic band: 9p23-p21

TLN1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TLN1 gene location

GeneLoc information about chromosome 9         GeneLoc Exon Structure

GeneLoc location for GC09M035687:  view genomic region     (about GC identifiers)

Start:
35,696,945 bp from pter      End:
35,732,392 bp from pter
Size:
35,448 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, 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, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: TLN1_HUMAN, Q9Y490 (See protein sequence)
Recommended Name: Talin-1  
Size: 2541 amino acids; 269767 Da
Subunit: Binds with high affinity to VCL and with low affinity to integrins. Interacts with APBB1IP; this inhibits
VCL binding. Interacts with PTK2/FAK1 (By similarity). Interacts with PIP5K1C and NRAP. Interacts with LAYN.
Interacts with SYNM. Interacts with ITGB1; the interaction is prevented by competitive binding of ITGB1BP1
Sequence caution: Sequence=BAA82979.2; Type=Erroneous initiation;
2 PDB 3D structures from and Proteopedia for TLN1:
1SYQ (3D)        4DJ9 (3D)    
Secondary accessions: A6NMY0 Q86YD0 Q9NZQ2 Q9UHH8 Q9UPX3

Explore the universe of human proteins at neXtProt for TLN1: NX_Q9Y490

Explore proteomics data for TLN1 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys334, Lys357, Lys428, Lys869, Lys1541
  • Modification sites at PhosphoSitePlus

  • See TLN1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_006280.3  
    ENSEMBL proteins: 
     ENSP00000316029   ENSP00000442981  
    Reactome Protein details: Q9Y490

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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 13):
     IPR019748 FERM_central
     IPR006077 Vinculin/catenin
     IPR002558 ILWEQ_dom
     IPR015710 Talin-1
     IPR015224 Talin_cent

    Graphical View of Domain Structure for InterPro Entry Q9Y490

    ProtoNet protein and cluster: Q9Y490

    2 Blocks protein domains:
    IPB000299 Band 4.1 domain
    IPB002558 I/LWEQ domain


    UniProtKB/Swiss-Prot: TLN1_HUMAN, Q9Y490
    Similarity: Contains 1 FERM domain
    Similarity: Contains 1 I/LWEQ domain


    TLN1 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: TLN1_HUMAN, Q9Y490
    Function: Probably involved in connections of major cytoskeletal structures to the plasma membrane. High molecular
    weight cytoskeletal protein concentrated at regions of cell-substratum contact and, in lymphocytes, at cell-cell
    contacts (By similarity)

         Gene Ontology (GO): Selected molecular function terms (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003779actin binding IEA--
    GO:0005158insulin receptor binding IEA--
    GO:0005178integrin binding IPI12473654
    GO:0005198structural molecule activity ----
    GO:0005200structural constituent of cytoskeleton NAS10610730
         
    TLN1 for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for TLN1:
     Increased focal adhesion (FA)   Weaker migration 

         10 MGI mutant phenotypes (inferred from 5 alleles(MGI details for Tln1):
     behavior/neurological  cardiovascular system  digestive/alimentary  embryogenesis  growth/size/body 
     hematopoietic system  homeostasis/metabolism  immune system  mortality/aging  muscle 

    TLN1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for TLN1: Tln1tm3Crit Tln1tm1Crit

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for TLN1
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for TLN1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for TLN1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for TLN1

    miRNA
    Products:
        
    miRTarBase miRNAs that target TLN1:
    hsa-mir-92b-3p (MIRT040638), hsa-mir-484 (MIRT042279), hsa-mir-222-3p (MIRT046642), hsa-mir-760 (MIRT036748), hsa-mir-92a-3p (MIRT049677), hsa-mir-186-5p (MIRT045248), hsa-let-7b-5p (MIRT052208), hsa-mir-124-3p (MIRT002693), hsa-mir-25-3p (MIRT050319)

    Block miRNA regulation of human, mouse, rat TLN1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate TLN1 (see all 18):
    hsa-miR-429 hsa-miR-3664-5p hsa-miR-330-5p hsa-miR-503 hsa-miR-3150a-3p hsa-miR-374c hsa-miR-9 hsa-miR-124
    SwitchGear 3'UTR luciferase reporter plasmidTLN1 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for TLN1
    Predesigned siRNA for gene silencing in human, mouse, rat TLN1

    Gene Editing
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    GenScript: all cDNA clones in your preferred vector: TLN1 (NM_006289)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for TLN1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TLN1

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TLN1


    (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
    TLN1_HUMAN, Q9Y490: Cell projection, ruffle membrane; Peripheral membrane protein; Cytoplasmic side (By
    similarity). Cytoplasm, cytoskeleton (By similarity). Cell surface (By similarity). Cell junction, focal adhesion
    (By similarity). Note=Colocalizes with LAYN at the membrane ruffles. Localized preferentially in focal adhesions
    than fibrillar adhesions (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    extracellular5
    plasma membrane5
    cytoskeleton4
    cytosol4
    nucleus2

    Gene Ontology (GO): Selected cellular component terms (see all 15):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001726ruffle ISS--
    GO:0005576extracellular region TAS--
    GO:0005737cytoplasm IDA--
    GO:0005813centrosome ----
    GO:0005815microtubule organizing center IDA--

    TLN1 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 TLN1 About   (see all 29)  
    See pathways by source

    SuperPathContained pathways About
    1Focal adhesion
    Focal adhesion0.65
    Integrin-mediated cell adhesion0.38
    Focal Adhesion0.65
    2Integrin alphaIIb beta3 signaling
    Integrin alphaIIb beta3 signaling0.73
    GRB2-SOS provides linkage to MAPK signaling for Intergrins0.00
    Platelet Aggregation (Plug Formation)0.73
    p130Cas linkage to MAPK signaling for integrins0.00
    3Unfolded Protein Response
    Unfolded Protein Response0.61
    Activation of Chaperone Genes by XBP1(S)0.59
    Activation of Chaperones by IRE1alpha0.61
    4Cell adhesion Integrin mediated cell adhesion and migration
    Cell adhesion Integrin mediated cell adhesion and migration0.49
    Cytoskeleton remodeling Fibronectin binding integrins in cell motility0.32
    Cytoskeleton remodeling Integrin outside in signaling0.37
    5Response to elevated platelet cytosolic Ca2+
    Response to elevated platelet cytosolic Ca2+0.94
    Platelet degranulation0.94

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    Selected Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for TLN1 (see all 6)
        MAPK Signaling
    RhoA Pathway
    Paxillin Interactions
    Integrin Pathway
    Calpain Protease Regulates Cellular Mechanics

    1 Cell Signaling Technology (CST) Pathway for TLN1
        Cytoskeletal Signaling

    Selected GeneGo (Thomson Reuters) Pathways for TLN1 (see all 6)
        Cytoskeleton remodeling Integrin outside-in signaling
    Cell adhesion Integrin-mediated cell adhesion and migration
    Cell adhesion Integrin inside-out signaling
    Inhibitory action of Lipoxins on neutrophil migration
    Cytoskeleton remodeling FAK signaling

    Selected BioSystems Pathways for TLN1 (see all 9)
        Focal Adhesion
    Integrin-mediated cell adhesion
    EGF receptor (ErbB1) signaling pathway
    amb2 Integrin signaling
    Integrins in angiogenesis

    Selected Reactome Pathways for TLN1 (see all 7)
        Smooth Muscle Contraction
    XBP1(S) activates chaperone genes
    Platelet degranulation
    Integrin alphaIIb beta3 signaling
    SEMA3A-Plexin repulsion signaling by inhibiting Integrin adhesion


    3 Kegg Pathways  (Kegg details for TLN1):
        Rap1 signaling pathway
    Focal adhesion
    HTLV-I infection


    TLN1 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Arrays including TLN1: 
              Adherens Junctions in human mouse rat
              Focal Adhesions in human mouse rat
              Cell Motility in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for TLN1

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

    Selected Interacting proteins for TLN1 (Q9Y4901, 2, 3 ENSP000003160294) via UniProtKB, MINT, STRING, and/or I2D (see all 932)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ITGB3P051061, 2, 3EBI-2462036,EBI-702847 MINT-1795071 MINT-1795026 MINT-2793444 MINT-1795056 I2D: score=4 
    ERBB2P046261, 2, 3, ENSP000002695714EBI-2462036,EBI-641062 MINT-74792 MINT-74793 MINT-74791 I2D: score=1 STRING: ENSP00000269571
    BCLAF1Q9NYF82, 3MINT-7945693 MINT-7947479 I2D: score=1 
    FUSP356372, 3MINT-7945693 MINT-7947479 I2D: score=1 
    HNRNPH1P319432, 3MINT-7945693 MINT-7947479 I2D: score=1 
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    Gene Ontology (GO): Selected biological process terms (see all 14):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0002576platelet degranulation TAS--
    GO:0006928cellular component movement NAS10610730
    GO:0006936muscle contraction TAS--
    GO:0006987activation of signaling protein activity involved in unfolded protein response TAS--
    GO:0007016cytoskeletal anchoring at plasma membrane NAS10610730

    TLN1 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 Tocris compounds for TLN1



    (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, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for TLN1 gene: 
    NM_006289.3  

    Unigene Cluster for TLN1:

    Talin 1
    Hs.471014  [show with all ESTs]
    Unigene Representative Sequence: NM_006289
    9 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000314888(uc003zxt.2) ENST00000489255 ENST00000464379 ENST00000466916
    ENST00000465002 ENST00000486788 ENST00000495712 ENST00000378192(uc003zxu.4)
    ENST00000540444
    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate TLN1 (see all 18):
    hsa-miR-429 hsa-miR-3664-5p hsa-miR-330-5p hsa-miR-503 hsa-miR-3150a-3p hsa-miR-374c hsa-miR-9 hsa-miR-124
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    Primer
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      QuantiFast Probe-based Assays in human, mouse, rat TLN1

    Additional mRNA sequence: 

    AB028950.2 AF001392.1 AF078828.1 AF113217.1 AF177198.1 AK001026.1 BC020881.1 BC042923.1 
    Z50170.1 

    Selected DOTS entries (see all 29):

    DT.92451593  DT.92451583  DT.315829  DT.100825199  DT.91770045  DT.95130790  DT.121191152  DT.91655792 
    DT.97860687  DT.121191075  DT.100825193  DT.95149204  DT.310205  DT.95149200  DT.91732564  DT.95149192 
    DT.99977584  DT.100825197  DT.100825201  DT.100825202  DT.121191034  DT.121191135  DT.121191161  DT.91738345 

    Selected AceView cDNA sequences (see all 835):

    BQ417082 BI916838 BQ710316 BF725093 BM696620 BG748469 BF195530 BG752928 
    BI063682 BU178399 BU149396 CF131236 BU164022 T27372 BQ064951 CD622337 
    BU527200 BU145903 AA367335 AI972900 AW451582 BG768215 BF360434 BG753483 

    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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    TLN1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CTCCAATAAA
    TLN1 Expression
    About this image


    TLN1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 16) fully expand
     
     Brain (Nervous System)    fully expand to see all 5 entries
             Myelinating Oligodendrocyte Cells Forebrain White Matter
             Cerebral Cortex
     
     Ovary (Reproductive System)    fully expand to see all 2 entries
             Ovarian Mesenchymal Stroma Cells Ovary Interstitium
             Oviduct
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
     
     Bone (Muscoskeletal System)
             Bone Marrow
     
     Pancreas (Endocrine System)
             Islets of Langerhans
    TLN1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    TLN1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.471014
        Pathway & Disease-focused RT2 Profiler PCR Arrays including TLN1: 
              Adherens Junctions in human mouse rat
              Focal Adhesions in human mouse rat
              Cell Motility in human mouse rat

    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for TLN1
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TLN1

    (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 and fungi.

    Orthologs for TLN1 gene from Selected species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Tln11 , 5 talin 11, 5 90.73(n)1
    98.74(a)1
      4 (23.05 cM)5
    218941  NM_011602.51  NP_035732.21 
     435315195 
    chicken
    (Gallus gallus)
    Aves TLN11 talin 1 80.37(n)
    89.16(a)
      395194  NM_204523.1  NP_989854.1 
    lizard
    (Anolis carolinensis)
    Reptilia TLN16
    talin 1
    88(a)
    1 ↔ 1
    GL343746.1(7339-64060)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.184672 Xenopus laevis transcribed sequence with strong similarity more 87.15(n)    BI347878.1 
    zebrafish
    (Danio rerio)
    Actinopterygii sbcb8542 sbcb854 77.8(n)   378871  CK028724.1 
    worm
    (Caenorhabditis elegans)
    Secernentea Y71G12B.11b3   -- 41(a)
    (best of 2)
      I(1721598-1732876)   --
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes SLA26
    Transmembrane actin-binding protein involved in me...
    19(a)
    1 → many
    XIV(188051-190957) YNL243W


    ENSEMBL Gene Tree for TLN1 (if available)
    TreeFam Gene Tree for TLN1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for TLN1 gene
    TLN22  HIP12  HIP1R2  MESDC12  
    1 SIMAP similar gene for TLN1 using alignment to 2 protein entries:     TLN1_HUMAN (see all proteins):
    TLN2

    TLN1 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 TLN1 (see all 930)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 9 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1482643591,2
    --35697000(+) ATTTGC/TTGACA 1 -- ds50010--------
    rs18853741,2
    C,F,O,A,H--35697081(+) AGCAGA/CAGAAC 1 -- ds500129Minor allele frequency- C:0.09NS EA NA WA CSA 3581
    rs1413736501,2
    --35697091(+) CGACAC/TTTTGT 1 -- ds50010--------
    rs1503448941,2
    --35697277(+) CCCCAC/GTGTCT 1 -- ds50010--------
    rs1380614801,2
    --35697362(+) GGAGCA/CTGACC 1 -- ut310--------
    rs22957931,2
    C,H--35697436(+) AAAACG/AGTGAA 1 -- ut31 ese32Minor allele frequency- A:0.01EA NS 1616
    rs559052511,2
    C--35697453(+) TGATGA/GGGCTG 1 -- ut310--------
    rs114961,2
    C,F,A,H--35697470(+) CTGGCT/CGGAAG 1 -- ut31 ese315Minor allele frequency- C:0.06MN NA WA CSA EA 562
    rs115419111,2
    --35697585(+) CTTGGA/GGGGCC 1 -- ut310--------
    rs1905024671,2
    --35697640(+) TACTGC/TGGGAC 1 -- ut310--------

    HapMap Linkage Disequilibrium report for TLN1 (35696945 - 35732392 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 5 variations for TLN1:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv6528CNV Insertion18451855
    esv25437CNV Loss19812545
    nsv819330CNV Loss19587683
    nsv466385CNV Loss19166990
    dgv8168n71CNV Gain21882294

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing TLN1
    DNA2.0 Custom Variant and Variant Library Synthesis for TLN1

    (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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    OMIM gene information: 186745    OMIM disorders: --

    10 diseases for TLN1:    
    About MalaCards
    embryonal rhabdomyosarcoma    rhabdomyosarcoma    dilated cardiomyopathy    psoriasis
    thyroid cancer    hiv-1    hepatocellular carcinoma    prostate cancer
    thyroiditis    prostatitis


    TLN1 for disorders           About GeneDecksing


    Export disorders for TLN1 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 TLN1 gene, integrated from 10 sources (see all 130):
    (articles sorted by number of sources associating them with TLN1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Characterization of the human talin (TLN) gene: genomic structure, chromosomal localization, and expression pattern. (PubMed id 10610730)1, 2, 3, 9 Ben-Yosef T. and Francomano C.A. (Genomics 1999)
    2. Identification of a repeated domain within mammalian alpha-synemin that interacts directly with talin. (PubMed id 18342854)1, 2 Sun N.... Robson R.M. (Exp. Cell Res. 2008)
    3. Structural basis for amplifying vinculin activation by talin. (PubMed id 15070891)1, 2 Izard T. and Vonrhein C. (J. Biol. Chem. 2004)
    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. Disruption of focal adhesions by integrin cytoplasmic domain- associated protein-1 alpha. (PubMed id 12473654)1, 2 Bouvard D.... Block M.R. (J. Biol. Chem. 2003)
    6. Type I gamma phosphatidylinositol phosphate kinase targets and regulates focal adhesions. (PubMed id 12422220)1, 2 Ling K.... Anderson R.A. (Nature 2002)
    7. Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones. (PubMed id 12168954)1, 2 Nakajima D.... Nagase T. (DNA Res. 2002)
    8. Prediction of the coding sequences of unidentified human genes. XIV. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PubMed id 10470851)1, 2 Kikuno R.... Ohara O. (DNA Res. 1999)
    9. Molecular interactions of N-RAP, a nebulin-related protein of striated muscle myotendon junctions and intercalated disks. (PubMed id 10320340)1, 2 Luo G.... Horowits R. (Biochemistry 1999)
    10. Localisation of the human gene encoding the cytoskeletal protein talin to chromosome 9p. (PubMed id 7635475)1, 3 Gilmore A.P....Critchley D.R. (Hum. Genet. 1995)

    (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: 7094 HGNC: 11845 AceView: TLN1 Ensembl:ENSG00000137076 euGenes: HUgn7094
    ECgene: TLN1 Kegg: 7094 H-InvDB: TLN1

    (According to HUGE)
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    HUGE: KIAA1027

    (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 TLN1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for TLN1 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for TLN1 gene:
    Search GeneIP for patents involving TLN1

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



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