Log in to bookmark this gene

Bookmark This Gene

Gene Gene information from NCBI Gene database.
Entrez ID 7094
Gene name Talin 1
Gene symbol TLN1
Synonyms (NCBI Gene)
ILWEQTLNtalin-1
Chromosome 9
Chromosome location 9p13.3
Summary 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, includi
miRNA miRNA information provided by mirtarbase database.
756 Show/Hide all (756)
miRTarBase ID miRNA Experiments Reference
MIRT002693 hsa-miR-124-3p Microarray 15685193
MIRT002693 hsa-miR-124-3p Proteomics;Microarray 18668037
MIRT002693 hsa-miR-124-3p Microarray 15685193
MIRT052208 hsa-let-7b-5p CLASH 23622248
MIRT050319 hsa-miR-25-3p CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
46 Show/Hide all (46)
GO ID Ontology Definition Evidence Reference
GO:0001726 Component Ruffle IEA
GO:0001726 Component Ruffle ISS
GO:0001786 Function Phosphatidylserine binding IEA
GO:0003779 Function Actin binding IEA
GO:0005178 Function Integrin binding IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
186745 11845 ENSG00000137076
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9Y490
Protein name Talin-1
Protein function High molecular weight cytoskeletal protein concentrated at regions of cell-matrix and cell-cell contacts. Involved in connections of major cytoskeletal structures to the plasma membrane. With KANK1 co-organize the assembly of cortical microtubul
PDB 1SYQ , 2MWN , 4DJ9 , 6R9T
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00373 FERM_M 201 → 313 FERM central domain Domain
PF01608 I_LWEQ 2384 → 2531 I/LWEQ domain Family
PF08913 VBS 1849 → 1973 Vinculin Binding Site Domain
PF09141 Talin_middle 491 → 652 Talin, middle domain Domain
PF16511 FERM_f0 4 → 83 N-terminal or F0 domain of Talin-head FERM Domain
Tissue specificity TISSUE SPECIFICITY: [Isoform 2]: Expressed at low to non-detectable levels in many tissues but highly expressed in skin and pancreas with other tissues including kidney cortex, endocervix, testis, pituitary, liver, and spleen also showing robust expressio
Sequence
MVALSLKISIGNVVKTMQFEPSTMVYDACRIIRERIPEAPAGPPSDFGLFLSDDDPKKGI
WLEAGKALDYYMLRNGDTMEYRK
KQRPLKIRMLDGTVKTIMVDDSKTVTDMLMTICARIG
ITNHDEYSLVRELMEEKKEEITGTLRKDKTLLRDEKKMEKLKQKLHTDDELNWLDHGRTL
REQGVEEHETLLLRRKFFYSDQNVDSRDPVQLNLLYVQARDDILNGSHPVSFDKACEFAG
FQCQIQFGPHNEQKHKAGFLDLKDFLPKEYVKQKGERKIFQAHKNCGQMSEIEAKVRYVK
LARSLKTYGVSFF
LVKEKMKGKNKLVPRLLGITKECVMRVDEKTKEVIQEWNLTNIKRWA
ASPKSFTLDFGDYQDGYYSVQTTEGEQIAQLIAGYIDIILKKKKSKDHFGLEGDEESTML
EDSVSPKKSTVLQQQYNRVGKVEHGSVALPAIMRSGASGPENFQVGSMPPAQQQITSGQM
HRGHMPPLTSAQQALTGTINSSMQAVQAAQATLDDFDTLPPLGQDAASKAWRKNKMDESK
HEIHSQVDAITAGTASVVNLTAGDPAETDYTAVGCAVTTISSNLTEMSRGVKLLAALLED
EGGSGRPLLQAAKGLAGAVSELLRSAQPASAEPRQNLLQAAGNVGQASGELL
QQIGESDT
DPHFQDALMQLAKAVASAAAALVLKAKSVAQRTEDSGLQTQVIAAATQCALSTSQLVACT
KVVAPTISSPVCQEQLVEAGRLVAKAVEGCVSASQAATEDGQLLRGVGAAATAVTQALNE
LLQHVKAHATGAGPAGRYDQATDTILTVTENIFSSMGDAGEMVRQARILAQATSDLVNAI
KADAEGESDLENSRKLLSAAKILADATAKMVEAAKGAAAHPDSEEQQQRLREAAEGLRMA
TNAAAQNAIKKKLVQRLEHAAKQAAASATQTIAAAQHAASTPKASAGPQPLLVQSCKAVA
EQIPLLVQGVRGSQAQPDSPSAQLALIAASQSFLQPGGKMVAAAKASVPTIQDQASAMQL
SQCAKNLGTALAELRTAAQKAQEACGPLEMDSALSVVQNLEKDLQEVKAAARDGKLKPLP
GETMEKCTQDLGNSTKAVSSAIAQLLGEVAQGNENYAGIAARDVAGGLRSLAQAARGVAA
LTSDPAVQAIVLDTASDVLDKASSLIEEAKKAAGHPGDPESQQRLAQVAKAVTQALNRCV
SCLPGQRDVDNALRAVGDASKRLLSDSLPPSTGTFQEAQSRLNEAAAGLNQAATELVQAS
RGTPQDLARASGRFGQDFSTFLEAGVEMAGQAPSQEDRAQVVSNLKGISMSSSKLLLAAK
ALSTDPAAPNLKSQLAAAARAVTDSINQLITMCTQQAPGQKECDNALRELETVRELLENP
VQPINDMSYFGCLDSVMENSKVLGEAMTGISQNAKNGNLPEFGDAISTASKALCGFTEAA
AQAAYLVGVSDPNSQAGQQGLVEPTQFARANQAIQMACQSLGEPGCTQAQVLSAATIVAK
HTSALCNSCRLASARTTNPTAKRQFVQSAKEVANSTANLVKTIKALDGAFTEENRAQCRA
ATAPLLEAVDNLSAFASNPEFSSIPAQISPEGRAAMEPIVISAKTMLESAGGLIQTARAL
AVNPRDPPSWSVLAGHSRTVSDSIKKLITSMRDKAPGQLECETAIAALNSCLRDLDQASL
AAVSQQLAPREGISQEALHTQMLTAVQEISHLIEPLANAARAEASQLGHKVSQMAQYFEP
LTLAAVGAASKTLSHPQQMALLDQTKTLAESALQLLYTAKEAGGNPKQAAHTQEALEEAV
QMMTEAVEDLTTTLNEAASAAGVVGGMVDSITQAINQLDEGPMGEPEGSFVDYQTTMVRT
AKAIAVTVQEMVTKSNTSPEELGPLANQLTSDYGRLASEAKPAAVAAENEEIGSHIKHRV
QELGHGCAALVTKAGALQCSPSDAYTKKELIECARRVSEKVSHVLAALQAGNR
GTQACIT
AASAVSGIIADLDTTIMFATAGTLNREGTETFADHREGILKTAKVLVEDTKVLVQNAAGS
QEKLAQAAQSSVATITRLADVVKLGAASLGAEDPETQVVLINAVKDVAKALGDLISATKA
AAGKVGDDPAVWQLKNSAKVMVTNVTSLLKTVKAVEDEATKGTRALEATTEHIRQELAVF
CSPEPPAKTSTPEDFIRMTKGITMATAKAVAAGNSCRQEDVIATANLSRRAIADMLRACK
EAAYHPEVAPDVRLRALHYGRECANGYLELLDHVLLTLQKPSPELKQQLTGHSKRVAGSV
TELIQAAEAMKGTEWVDPEDPTVIAENELLGAAAAIEAAAKKLEQLKPRAKPKEADESLN
FEEQILEAAKSIAAATSALVKAASAAQRELVAQGKVGAIPANALDDGQWSQGLISAARMV
AAATNNLCEAANAAVQGHASQEKLISSAKQVAASTAQLLVACKVKADQDSEAMKRLQAAG
NAVKRASDNLVKAAQKAAAFEEQENETVVVKEKMVGGIAQIIAAQEEMLRKERELEEARK
KLAQIRQQQYK
FLPSELRDEH
Sequence length 2541
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
KEGG Pathway Reactome Pathway
Rap1 signaling pathway Platelet degranulation
Focal adhesion Integrin signaling
Platelet activation GRB2:SOS provides linkage to MAPK signaling for Integrins
Cytoskeleton in muscle cells p130Cas linkage to MAPK signaling for integrins
Shigellosis XBP1(S) activates chaperone genes
Human T-cell leukemia virus 1 infection SEMA3A-Plexin repulsion signaling by inhibiting Integrin adhesion
  Smooth Muscle Contraction
  MAP2K and MAPK activation
  Signaling by moderate kinase activity BRAF mutants
  Signaling by high-kinase activity BRAF mutants
  Signaling by BRAF and RAF fusions
  Paradoxical activation of RAF signaling by kinase inactive BRAF
  Signaling downstream of RAS mutants
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
4
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Capillary leak syndrome Likely pathogenic rs2131878320 RCV002254540
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Reference Evidence Score
OSTEOPOROSIS — CTD, Disgenet
CTD, Disgenet
18924182
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
THROMBOCYTOPENIA — GWAS catalog 30888838, 35861643
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
TLN1-related disorder Likely benign ClinVar —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Show/Hide Text Mining Associations (76)
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Anaplasia Anaplasia BEFREE 21846996
★★★★★
★☆☆☆☆
Found in Text Mining only
Aortic Dissection Aortic dissection Pubtator 28637452 Inhibit
★★★★★
★☆☆☆☆
Found in Text Mining only
Asthma Asthma BEFREE 23967269
★★★★★
★☆☆☆☆
Found in Text Mining only
Benign Prostatic Hyperplasia Benign Prostatic Hyperplasia BEFREE 27442684
★★★★★
★☆☆☆☆
Found in Text Mining only
Bladder Neoplasm Bladder Neoplasm BEFREE 31053526
★★★★★
★☆☆☆☆
Found in Text Mining only
Blood Platelet Disorders Platelet disorder Pubtator 23382103 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 23479679
★★★★★
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 33267867, 37460470 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Carcinogenesis Carcinogenesis Pubtator 22471464, 27442684, 28099903 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Carcinoma Carcinoma BEFREE 31068760
★★★★★
★☆☆☆☆
Found in Text Mining only