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 attach... See more...

Aliases for TLN1 Gene

Aliases for TLN1 Gene

  • Talin 1 2 3 5
  • Talin-1 3 4
  • TLN 3 4
  • KIAA1027 4
  • ILWEQ 3

External Ids for TLN1 Gene

Previous HGNC Symbols for TLN1 Gene

  • TLN

Previous GeneCards Identifiers for TLN1 Gene

  • GC09M036009
  • GC09M035866

Summaries for TLN1 Gene

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 Leukocyte Adhesion Deficiency, Type I and Leukocyte Adhesion Deficiency, Type Iii. Among its related pathways are RET signaling and Signaling events mediated by focal adhesion kinase. Gene Ontology (GO) annotations related to this gene include actin binding and actin filament binding. An important paralog of this gene is TLN2.

UniProtKB/Swiss-Prot Summary for TLN1 Gene

  • 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

Additional gene information for TLN1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for TLN1 Gene

Genomics for TLN1 Gene

GeneHancer (GH) Regulatory Elements for TLN1 Gene

Promoters and enhancers for TLN1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH09J035726 Promoter/Enhancer 2.4 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 511.7 +2.0 1980 8.6 FOXK2 ZBTB40 ZNF217 EP300 CTCF NRF1 TCF12 MYC POLR2G SP1 TLN1 CREB3 TMEM8B GBA2 TPM2 ARHGEF39 RN7SL22P ENSG00000228843 MSMP CCDC107
GH09J035679 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 21.6 +46.3 46278 12.8 MYC TCF12 POLR2G PHF8 JUND FOS ZIC2 POLR2A ZBTB26 SAP30 TPM2 GBA2 TMEM8B TLN1 NPR2 CCDC107 SIT1 CREB3 RGP1 ENSG00000228843
GH09J035913 Promoter/Enhancer 1.5 Ensembl ENCODE dbSUPER 19.8 -185.2 -185219 6.9 NRF1 NCOR1 BCLAF1 PHB2 ZBTB5 ZBTB11 REST TSC22D4 TOE1 MYC TLN1 GBA2 SPAAR ARHGEF39 RECK PIGO NDUFA5P4 OR13J1 FAM221B TMEM8B
GH09J035025 Enhancer 1 Ensembl ENCODE 23 +705.1 705123 4.1 GTF2E2 REST NCOR1 ZNF585B RELA NFIC FOS FOSL2 ZNF592 GTF2A2 ENSG00000287868 TLN1 FANCG CCDC107 PIGO TPM2 ARHGEF39 DNAJB5 PHF24 STOML2
GH09J035616 Promoter/Enhancer 1.7 EPDnew Ensembl ENCODE dbSUPER 10.9 +113.1 113141 6.4 ZBTB40 JUND ZIC2 POLR2A GABPA RCOR1 NFYB HDAC2 EZH2 BCL11A CD72 CCDC107 RN7SL22P ARHGEF39 SIT1 CA9 FAM166B CREB3 TLN1 GBA2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around TLN1 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for TLN1

Top Transcription factor binding sites by QIAGEN in the TLN1 gene promoter:
  • AP-1
  • AP-2alpha
  • AP-2alpha isoform 2
  • AP-2alpha isoform 3
  • AP-2alpha isoform 4
  • AP-2alphaA
  • c-Ets-1
  • C/EBPalpha
  • Nkx2-5
  • STAT5A

Genomic Locations for TLN1 Gene

Genomic Locations for TLN1 Gene
chr9:35,696,948-35,732,395
(GRCh38/hg38)
Size:
35,448 bases
Orientation:
Minus strand
chr9:35,696,945-35,732,392
(GRCh37/hg19)
Size:
35,448 bases
Orientation:
Minus strand

Genomic View for TLN1 Gene

Genes around TLN1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TLN1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TLN1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TLN1 Gene

Proteins for TLN1 Gene

  • Protein details for TLN1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y490-TLN1_HUMAN
    Recommended name:
    Talin-1
    Protein Accession:
    Q9Y490
    Secondary Accessions:
    • A6NMY0
    • Q86YD0
    • Q9NZQ2
    • Q9UHH8
    • Q9UPX3

    Protein attributes for TLN1 Gene

    Size:
    2541 amino acids
    Molecular mass:
    269767 Da
    Quaternary structure:
    • Binds with high affinity to VCL and with low affinity to integrins (PubMed:15070891). Interacts with APBB1IP; this inhibits VCL binding. Interacts with PTK2/FAK1 (By similarity). Interacts with PIP5K1C and NRAP (PubMed:10320340, PubMed:12422220). Interacts with LAYN (By similarity). Interacts with SYNM (PubMed:18342854). Interacts with ITGB1; the interaction is prevented by competitive binding of ITGB1BP1 (PubMed:21768292, PubMed:12473654).
    • (Microbial infection) Interacts with human cytomegalovirus protein UL135.
    SequenceCaution:
    • Sequence=BAA82979.2; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for TLN1 Gene

neXtProt entry for TLN1 Gene

Post-translational modifications for TLN1 Gene

  • Ubiquitination at Lys334, Lys357, Lys428, and Lys869
  • Modification sites at PhosphoSitePlus

Other Protein References for TLN1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for TLN1 Gene

Domains & Families for TLN1 Gene

Gene Families for TLN1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for TLN1 Gene

GenScript: Design optimal peptide antigens:
  • Talin 1 (Q5TCU5_HUMAN)
  • Talin-1 (TLN1_HUMAN)
genes like me logo Genes that share domains with TLN1: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for TLN1 Gene

Function for TLN1 Gene

Molecular function for TLN1 Gene

UniProtKB/Swiss-Prot 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).

Phenotypes From GWAS Catalog for TLN1 Gene

Gene Ontology (GO) - Molecular Function for TLN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001786 phosphatidylserine binding IEA --
GO:0003779 actin binding IEA --
GO:0005178 integrin binding IPI,IEA 12473654
GO:0005200 structural constituent of cytoskeleton NAS 10610730
GO:0005515 protein binding IPI 11279249
genes like me logo Genes that share ontologies with TLN1: view
genes like me logo Genes that share phenotypes with TLN1: view

Animal Models for TLN1 Gene

MGI Knock Outs for TLN1:

Animal Model Products

CRISPR Products

miRNA for TLN1 Gene

miRTarBase miRNAs that target TLN1

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TLN1

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for TLN1 Gene

Localization for TLN1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TLN1 Gene

Cell projection, ruffle membrane; Peripheral membrane protein; Cytoplasmic side. Cytoplasm, cytoskeleton. Cell surface. Cell junction, focal adhesion. Note=Colocalizes with LAYN at the membrane ruffles. Localized preferentially in focal adhesions than fibrillar adhesions (By similarity). {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for TLN1 gene
Compartment Confidence
cytosol 5
plasma membrane 4
extracellular 4
cytoskeleton 4
nucleus 3
mitochondrion 1
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Centriolar satellite (3)
  • Cytosol (3)
  • Focal adhesion sites (3)
  • Plasma membrane (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for TLN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001726 ruffle ISS --
GO:0005576 extracellular region TAS --
GO:0005623 cell IEA --
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with TLN1: view

Pathways & Interactions for TLN1 Gene

PathCards logo

SuperPathways for TLN1 Gene

SuperPathway Contained pathways
1 RET signaling
2 Paradoxical activation of RAF signaling by kinase inactive BRAF
3 Integrin alphaIIb beta3 signaling
4 Response to elevated platelet cytosolic Ca2+
5 Focal Adhesion
genes like me logo Genes that share pathways with TLN1: view

Pathways by source for TLN1 Gene

6 GeneGo (Thomson Reuters) pathways for TLN1 Gene
  • Cell adhesion Integrin inside-out signaling
  • Cell adhesion Integrin-mediated cell adhesion and migration
  • Cytoskeleton remodeling FAK signaling
  • Cytoskeleton remodeling Fibronectin-binding integrins in cell motility
  • Cytoskeleton remodeling Integrin outside-in signaling
6 Qiagen pathways for TLN1 Gene
  • Calpain Protease Regulates Cellular Mechanics
  • FAK1 Signaling
  • Integrin Pathway
  • MAPK Signaling
  • Paxillin Interactions
2 Cell Signaling Technology pathways for TLN1 Gene

SIGNOR curated interactions for TLN1 Gene

Activates:
Is activated by:

Gene Ontology (GO) - Biological Process for TLN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002576 platelet degranulation TAS --
GO:0006936 muscle contraction TAS --
GO:0007016 cytoskeletal anchoring at plasma membrane NAS 10610730
GO:0007043 cell-cell junction assembly TAS 15494027
GO:0007044 cell-substrate junction assembly IEA --
genes like me logo Genes that share ontologies with TLN1: view

Drugs & Compounds for TLN1 Gene

No Compound Related Data Available

Transcripts for TLN1 Gene

mRNA/cDNA for TLN1 Gene

1 REFSEQ mRNAs :
8 NCBI additional mRNA sequence :
8 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TLN1

Alternative Splicing Database (ASD) splice patterns (SP) for TLN1 Gene

No ASD Table

Relevant External Links for TLN1 Gene

GeneLoc Exon Structure for
TLN1

Expression for TLN1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for TLN1 Gene

mRNA differential expression in normal tissues according to GTEx for TLN1 Gene

This gene is overexpressed in Artery - Tibial (x4.1).

Protein differential expression in normal tissues from HIPED for TLN1 Gene

This gene is overexpressed in Platelet (17.9) and Peripheral blood mononuclear cells (6.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for TLN1 Gene



Protein tissue co-expression partners for TLN1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for TLN1

SOURCE GeneReport for Unigene cluster for TLN1 Gene:

Hs.471014

Evidence on tissue expression from TISSUES for TLN1 Gene

  • Blood(4.7)
  • Nervous system(4.7)
  • Liver(4.6)
  • Intestine(4.2)
  • Skin(3.8)
  • Lung(3.7)
  • Heart(3.2)
  • Eye(2.9)
  • Pancreas(2.9)
  • Gall bladder(2.8)
  • Muscle(2.6)
  • Kidney(2.5)
  • Lymph node(2.4)
  • Thyroid gland(2.2)
  • Stomach(2.1)
  • Adrenal gland(2)
  • Spleen(2)
genes like me logo Genes that share expression patterns with TLN1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for TLN1 Gene

Orthologs for TLN1 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for TLN1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TLN1 31 30
  • 98.99 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia TLN1 31
  • 97 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TLN1 31
  • 93 (a)
OneToOne
dog
(Canis familiaris)
Mammalia TLN1 31 30
  • 92.56 (n)
OneToOne
cow
(Bos Taurus)
Mammalia TLN1 31 30
  • 91.85 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Tln1 17 31 30
  • 90.73 (n)
rat
(Rattus norvegicus)
Mammalia Tln1 30
  • 90.61 (n)
chicken
(Gallus gallus)
Aves TLN1 31 30
  • 80.37 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TLN1 31
  • 88 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.18467 30
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.15058 30
zebrafish
(Danio rerio)
Actinopterygii tln1 31 30
  • 75.43 (n)
ManyToMany
sbcb854 30
fruit fly
(Drosophila melanogaster)
Insecta Talin 32
  • 46 (a)
worm
(Caenorhabditis elegans)
Secernentea Y71G12B.11b 32
  • 41 (a)
Y71G12B.11a 32
  • 37 (a)
hipr-1 31
  • 18 (a)
ManyToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SLA2 31
  • 19 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea Cin.9312 30
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.9312 30
Species where no ortholog for TLN1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for TLN1 Gene

ENSEMBL:
Gene Tree for TLN1 (if available)
TreeFam:
Gene Tree for TLN1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for TLN1: view image

Paralogs for TLN1 Gene

Paralogs for TLN1 Gene

(1) SIMAP similar genes for TLN1 Gene using alignment to 2 proteins:

  • TLN1_HUMAN
  • Q5TCU6_HUMAN
genes like me logo Genes that share paralogs with TLN1: view

Variants for TLN1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for TLN1 Gene

SNP ID Clinical significance and condition Chr 09 pos Variation AA Info Type
709446 Benign: not provided 35,716,561(-) G/A INTRON_VARIANT
714623 Benign: not provided 35,707,486(-) C/T SYNONYMOUS_VARIANT
715343 Benign: not provided 35,724,948(-) C/T SYNONYMOUS_VARIANT
718564 Benign: not provided 35,706,010(-) A/G SYNONYMOUS_VARIANT
730124 Likely Benign: not provided 35,720,805(-) T/C INTRON_VARIANT

Additional dbSNP identifiers (rs#s) for TLN1 Gene

Structural Variations from Database of Genomic Variants (DGV) for TLN1 Gene

Variant ID Type Subtype PubMed ID
esv25437 CNV loss 19812545
nsv1125318 OTHER inversion 24896259
nsv466385 CNV loss 19166990
nsv614166 CNV loss 21841781
nsv6528 CNV insertion 18451855
nsv819330 CNV loss 19587683

Variation tolerance for TLN1 Gene

Residual Variation Intolerance Score: 0.301% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.66; 82.86% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for TLN1 Gene

Human Gene Mutation Database (HGMD)
TLN1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
TLN1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TLN1 Gene

Disorders for TLN1 Gene

MalaCards: The human disease database

(3) MalaCards diseases for TLN1 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
leukocyte adhesion deficiency, type i
  • lad
leukocyte adhesion deficiency, type iii
  • lad3
dilated cardiomyopathy
  • cardiomyopathy, familial idiopathic
- elite association - COSMIC cancer census association via MalaCards
Search TLN1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for TLN1

genes like me logo Genes that share disorders with TLN1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for TLN1 Gene

Publications for TLN1 Gene

  1. Characterization of the human talin (TLN) gene: genomic structure, chromosomal localization, and expression pattern. (PMID: 10610730) Ben-Yosef T … Francomano CA (Genomics 1999) 2 3 4 23 54
  2. ANKRD1, the gene encoding cardiac ankyrin repeat protein, is a novel dilated cardiomyopathy gene. (PMID: 19608030) Moulik M … Towbin JA (Journal of the American College of Cardiology 2009) 3 23 54
  3. Identification of a repeated domain within mammalian alpha-synemin that interacts directly with talin. (PMID: 18342854) Sun N … Robson RM (Experimental cell research 2008) 3 4 54
  4. Talin 1 and paxillin facilitate distinct steps in rapid VLA-4-mediated adhesion strengthening to vascular cell adhesion molecule 1. (PMID: 17597073) Manevich E … Alon R (The Journal of biological chemistry 2007) 3 23 54
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 54

Products for TLN1 Gene

Sources for TLN1 Gene