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TWF1 (twinfilin actin binding protein 1)

Identity

Alias_namesPTK9
protein tyrosine kinase 9
PTK9 protein tyrosine kinase 9
twinfilin, actin-binding protein, homolog 1 (Drosophila)
Alias_symbol (synonym)A6
Other alias
HGNC (Hugo) TWF1
LocusID (NCBI) 5756
Atlas_Id 41902
Location 12q12  [Link to chromosome band 12q12]
Location_base_pair Starts at 43793723 and ends at 43806375 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)		Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 

External links

Nomenclature
HGNC (Hugo)TWF1   9620
Cards
Entrez_Gene (NCBI)TWF1  5756  twinfilin actin binding protein 1
AliasesA6; PTK9
GeneCards (Weizmann)TWF1
Ensembl hg19 (Hinxton)ENSG00000151239 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000151239 [Gene_View]  ENSG00000151239 [Sequence]  chr12:43793723-43806375 [Contig_View]  TWF1 [Vega]
ICGC DataPortalENSG00000151239
TCGA cBioPortalTWF1
AceView (NCBI)TWF1
Genatlas (Paris)TWF1
WikiGenes5756
SOURCE (Princeton)TWF1
Genetics Home Reference (NIH)TWF1
Genomic and cartography
GoldenPath hg38 (UCSC)TWF1  -     chr12:43793723-43806375 -  12q12   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)TWF1  -     12q12   [Description]    (hg19-Feb_2009)
GoldenPathTWF1 - 12q12 [CytoView hg19]  TWF1 - 12q12 [CytoView hg38]
ImmunoBaseENSG00000151239
Mapping of homologs : NCBITWF1 [Mapview hg19]  TWF1 [Mapview hg38]
OMIM610932   
Gene and transcription
Genbank (Entrez)AB209302 AK127868 AK291223 AK297206 BC022344
RefSeq transcript (Entrez)NM_001242397 NM_002822 NM_198974
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)TWF1
Cluster EST : UnigeneHs.313056 [ NCBI ]
CGAP (NCI)Hs.313056
Alternative Splicing GalleryENSG00000151239
Gene ExpressionTWF1 [ NCBI-GEO ]   TWF1 [ EBI - ARRAY_EXPRESS ]   TWF1 [ SEEK ]   TWF1 [ MEM ]
Gene Expression Viewer (FireBrowse)TWF1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)5756
GTEX Portal (Tissue expression)TWF1
Human Protein AtlasENSG00000151239-TWF1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ12792   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ12792  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ12792
Splice isoforms : SwissVarQ12792
PhosPhoSitePlusQ12792
Domaine pattern : Prosite (Expaxy)ADF_H (PS51263)   
Domains : Interpro (EBI)ADF-H    ADF-H/Gelsolin-like_dom_sf    Twinfilin   
Domain families : Pfam (Sanger)Cofilin_ADF (PF00241)   
Domain families : Pfam (NCBI)pfam00241   
Domain families : Smart (EMBL)ADF (SM00102)  
Conserved Domain (NCBI)TWF1
DMDM Disease mutations5756
Blocks (Seattle)TWF1
SuperfamilyQ12792
Human Protein Atlas [tissue]ENSG00000151239-TWF1 [tissue]
Peptide AtlasQ12792
HPRD10174
IPIIPI01022451   IPI00815767   IPI00816829   IPI01022319   IPI01022155   IPI01022921   IPI01022136   IPI01021741   IPI00183508   
Protein Interaction databases
DIP (DOE-UCLA)Q12792
IntAct (EBI)Q12792
FunCoupENSG00000151239
BioGRIDTWF1
STRING (EMBL)TWF1
ZODIACTWF1
Ontologies - Pathways
QuickGOQ12792
Ontology : AmiGOactin binding  actin monomer binding  actin monomer binding  protein tyrosine kinase activity  protein binding  ATP binding  phosphatidylinositol-4,5-bisphosphate binding  cytoplasm  cytosol  actin filament  cell-cell junction  focal adhesion  regulation of lamellipodium assembly  positive regulation of cardiac muscle hypertrophy  positive regulation of neuron projection development  actin cytoskeleton  peptidyl-tyrosine phosphorylation  myofibril  myofibril  actin filament depolymerization  filopodium  negative regulation of actin filament polymerization  ruffle membrane  sequestering of actin monomers  sequestering of actin monomers  regulation of actin phosphorylation  cadherin binding  perinuclear region of cytoplasm  actin filament binding  barbed-end actin filament capping  
Ontology : EGO-EBIactin binding  actin monomer binding  actin monomer binding  protein tyrosine kinase activity  protein binding  ATP binding  phosphatidylinositol-4,5-bisphosphate binding  cytoplasm  cytosol  actin filament  cell-cell junction  focal adhesion  regulation of lamellipodium assembly  positive regulation of cardiac muscle hypertrophy  positive regulation of neuron projection development  actin cytoskeleton  peptidyl-tyrosine phosphorylation  myofibril  myofibril  actin filament depolymerization  filopodium  negative regulation of actin filament polymerization  ruffle membrane  sequestering of actin monomers  sequestering of actin monomers  regulation of actin phosphorylation  cadherin binding  perinuclear region of cytoplasm  actin filament binding  barbed-end actin filament capping  
NDEx NetworkTWF1
Atlas of Cancer Signalling NetworkTWF1
Wikipedia pathwaysTWF1
Orthology - Evolution
OrthoDB5756
GeneTree (enSembl)ENSG00000151239
Phylogenetic Trees/Animal Genes : TreeFamTWF1
HOGENOMQ12792
Homologs : HomoloGeneTWF1
Homology/Alignments : Family Browser (UCSC)TWF1
Gene fusions - Rearrangements
Fusion : QuiverTWF1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerTWF1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)TWF1
dbVarTWF1
ClinVarTWF1
1000_GenomesTWF1 
Exome Variant ServerTWF1
ExAC (Exome Aggregation Consortium)ENSG00000151239
GNOMAD BrowserENSG00000151239
Varsome BrowserTWF1
Genetic variants : HAPMAP5756
Genomic Variants (DGV)TWF1 [DGVbeta]
DECIPHERTWF1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisTWF1 
Mutations
ICGC Data PortalTWF1 
TCGA Data PortalTWF1 
Broad Tumor PortalTWF1
OASIS PortalTWF1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICTWF1  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DTWF1
Mutations and Diseases : HGMDTWF1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch TWF1
DgiDB (Drug Gene Interaction Database)TWF1
DoCM (Curated mutations)TWF1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)TWF1 (select a term)
intoGenTWF1
Cancer3DTWF1(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM610932   
Orphanet
DisGeNETTWF1
MedgenTWF1
Genetic Testing Registry TWF1
NextProtQ12792 [Medical]
TSGene5756
GENETestsTWF1
Target ValidationTWF1
Huge Navigator TWF1 [HugePedia]
snp3D : Map Gene to Disease5756
BioCentury BCIQTWF1
ClinGenTWF1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD5756
Chemical/Pharm GKB GenePA162407406
Clinical trialTWF1
Miscellaneous
canSAR (ICR)TWF1 (select the gene name)
DataMed IndexTWF1
Probes
Litterature
PubMed46 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineTWF1
EVEXTWF1
GoPubMedTWF1
iHOPTWF1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Wed Nov 13 18:13:42 CET 2019
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