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Aliases for TWF1 Gene

Aliases for TWF1 Gene

  • Twinfilin Actin-Binding Protein 1 2 3
  • Protein Tyrosine Kinase 9 2 3 4
  • PTK9 3 4 6
  • PTK9 Protein Tyrosine Kinase 9 2 3
  • Protein A6 3 4
  • Twinfilin, Actin-Binding Protein, Homolog 1 (Drosophila) 2
  • Twinfilin, Actin-Binding Protein, Homolog 1 3
  • A6 Protein Tyrosine Kinase 3
  • Twinfilin-1 3
  • A6 3

External Ids for TWF1 Gene

Previous HGNC Symbols for TWF1 Gene

  • PTK9

Previous GeneCards Identifiers for TWF1 Gene

  • GC12M042474
  • GC12M044187
  • GC12M041215

Summaries for TWF1 Gene

Entrez Gene Summary for TWF1 Gene

  • This gene encodes twinfilin, an actin monomer-binding protein conserved from yeast to mammals. Studies of the mouse counterpart suggest that this protein may be an actin monomer-binding protein, and its localization to cortical G-actin-rich structures may be regulated by the small GTPase RAC1. [provided by RefSeq, Jul 2008]

GeneCards Summary for TWF1 Gene

TWF1 (Twinfilin Actin-Binding Protein 1) is a Protein Coding gene. Diseases associated with TWF1 include sleeping sickness. Among its related pathways are Cytoskeletal Signaling and Sweet Taste Signaling. GO annotations related to this gene include protein tyrosine kinase activity and actin monomer binding. An important paralog of this gene is TWF2.

UniProtKB/Swiss-Prot for TWF1 Gene

  • Actin-binding protein involved in motile and morphological processes. Inhibits actin polymerization, likely by sequestering G-actin. By capping the barbed ends of filaments, it also regulates motility. Seems to play an important role in clathrin-mediated endocytosis and distribution of endocytic organelles (By similarity).

Gene Wiki entry for TWF1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TWF1 Gene

Genomics for TWF1 Gene

Regulatory Elements for TWF1 Gene

Genomic Location for TWF1 Gene

Start:
43,793,723 bp from pter
End:
43,806,375 bp from pter
Size:
12,653 bases
Orientation:
Minus strand

Genomic View for TWF1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for TWF1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TWF1 Gene

Proteins for TWF1 Gene

  • Protein details for TWF1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q12792-TWF1_HUMAN
    Recommended name:
    Twinfilin-1
    Protein Accession:
    Q12792
    Secondary Accessions:
    • A8K5A8
    • B3KXS6
    • B4DLX9
    • Q59G07
    • Q5U0B1
    • Q6FHJ1
    • Q6FHL6
    • Q6NUK9
    • Q86XL6
    • Q8TCD3

    Protein attributes for TWF1 Gene

    Size:
    350 amino acids
    Molecular mass:
    40283 Da
    Quaternary structure:
    • Interacts with G-actin; ADP-actin form and capping protein (CP). May also be able to interact with TWF2 and phosphoinositides, PI(4,5)P2. When bound to PI(4,5)P2, it is down-regulated (By similarity).
    SequenceCaution:
    • Sequence=AAH43148.2; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=AAH68548.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAD92539.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for TWF1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TWF1 Gene

Proteomics data for TWF1 Gene at MOPED

Post-translational modifications for TWF1 Gene

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for TWF1 (A6)

No data available for DME Specific Peptides for TWF1 Gene

Domains for TWF1 Gene

Protein Domains for TWF1 Gene

Suggested Antigen Peptide Sequences for TWF1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q12792

UniProtKB/Swiss-Prot:

TWF1_HUMAN :
  • Q12792
Domain:
  • Contains 2 ADF-H domains.
Family:
  • Belongs to the actin-binding proteins ADF family. Twinfilin subfamily.
genes like me logo Genes that share domains with TWF1: view

Function for TWF1 Gene

Molecular function for TWF1 Gene

UniProtKB/Swiss-Prot Function: Actin-binding protein involved in motile and morphological processes. Inhibits actin polymerization, likely by sequestering G-actin. By capping the barbed ends of filaments, it also regulates motility. Seems to play an important role in clathrin-mediated endocytosis and distribution of endocytic organelles (By similarity).

Gene Ontology (GO) - Molecular Function for TWF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003779 actin binding --
GO:0003785 actin monomer binding ISS 12807912
GO:0004713 NOT protein tyrosine kinase activity IDA 10406962
GO:0005524 ATP binding IDA 10406962
GO:0005546 phosphatidylinositol-4,5-bisphosphate binding ISS 12807912
genes like me logo Genes that share ontologies with TWF1: view

Phenotypes for TWF1 Gene

genes like me logo Genes that share phenotypes with TWF1: view

Animal Model Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for TWF1

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting and HOMER Transcription for TWF1 Gene

Localization for TWF1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TWF1 Gene

Cytoplasm. Cytoplasm, cytoskeleton. Note=Diffuse cytoplasmic localization with perinuclear and G-actin-rich cortical actin structures sublocalization. Also found at membrane ruffles and cell-cell contacts (By similarity). {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for TWF1 Gene COMPARTMENTS Subcellular localization image for TWF1 gene
Compartment Confidence
cytoskeleton 4
cytosol 3
mitochondrion 3
plasma membrane 2
nucleus 1

Gene Ontology (GO) - Cellular Components for TWF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular --
GO:0005737 cytoplasm IDA --
GO:0005911 cell-cell junction ISS 12807912
GO:0005925 focal adhesion IDA 21423176
GO:0015629 actin cytoskeleton ISS --
genes like me logo Genes that share ontologies with TWF1: view

Pathways for TWF1 Gene

genes like me logo Genes that share pathways with TWF1: view

Pathways by source for TWF1 Gene

1 Qiagen pathway for TWF1 Gene
1 Cell Signaling Technology pathway for TWF1 Gene

Gene Ontology (GO) - Biological Process for TWF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0018108 peptidyl-tyrosine phosphorylation --
GO:0030837 negative regulation of actin filament polymerization ISS 12807912
GO:0042989 sequestering of actin monomers ISS 18837697
GO:0043538 regulation of actin phosphorylation IDA 10406962
GO:0051016 barbed-end actin filament capping --
genes like me logo Genes that share ontologies with TWF1: view

Transcripts for TWF1 Gene

Unigene Clusters for TWF1 Gene

Twinfilin, actin-binding protein, homolog 1 (Drosophila):
Representative Sequences:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for TWF1

Primer Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for TWF1 Gene

ExUns: 1a · 1b · 1c · 1d · 1e · 1f ^ 2a · 2b ^ 3a · 3b ^ 4a · 4b ^ 5 ^ 6 ^ 7a · 7b · 7c · 7d ^ 8a · 8b · 8c ^ 9 ^ 10 ^ 11a · 11b ^ 12 ^
SP1: - - - - - -
SP2: - - - - - - -
SP3: - - - - -
SP4: - - -
SP5: - - - -
SP6: -
SP7: - - - - -
SP8: - - - -
SP9: - -
SP10: -
SP11: - - -

ExUns: 13
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:

Relevant External Links for TWF1 Gene

GeneLoc Exon Structure for
TWF1
ECgene alternative splicing isoforms for
TWF1

Expression for TWF1 Gene

mRNA expression in normal human tissues for TWF1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for TWF1 Gene

SOURCE GeneReport for Unigene cluster for TWF1 Gene Hs.189075

mRNA Expression by UniProt/SwissProt for TWF1 Gene

Q12792-TWF1_HUMAN
Tissue specificity: Expressed at high levels in the colon, testis, ovary, prostate and lung. Expressed at lower levels in the brain, bladder and heart. Not detected in liver.
genes like me logo Genes that share expressions with TWF1: view

In Situ Assay Products

No data available for mRNA differential expression in normal tissues for TWF1 Gene

Orthologs for TWF1 Gene

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

Orthologs for TWF1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TWF1 35
  • 99.63 (n)
  • 99.72 (a)
TWF1 36
  • 91 (a)
OneToOne
cow
(Bos Taurus)
Mammalia TWF1 35
  • 93.81 (n)
  • 94.86 (a)
TWF1 36
  • 95 (a)
OneToOne
dog
(Canis familiaris)
Mammalia TWF1 35
  • 95.24 (n)
  • 97.48 (a)
TWF1 36
  • 97 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Twf1 35
  • 88.95 (n)
  • 94.86 (a)
Twf1 16
Twf1 36
  • 95 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 85 (a)
OneToMany
-- 36
  • 91 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia TWF1 36
  • 86 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Twf1 35
  • 90.29 (n)
  • 94.57 (a)
chicken
(Gallus gallus)
Aves TWF1 35
  • 81.43 (n)
  • 88.57 (a)
TWF1 36
  • 79 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TWF1 36
  • 83 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia twf1 35
  • 76.57 (n)
  • 80.29 (a)
zebrafish
(Danio rerio)
Actinopterygii TWF1 (3 of 3) 36
  • 63 (a)
OneToMany
twf1a 36
  • 65 (a)
OneToMany
twf1b 35
  • 68.12 (n)
  • 72.97 (a)
twf1b 36
  • 72 (a)
OneToMany
wufd02b03 35
African malaria mosquito
(Anopheles gambiae)
Insecta TWF_ANOGA 35
  • 55.72 (n)
  • 51.32 (a)
fruit fly
(Drosophila melanogaster)
Insecta twf 35
  • 52.92 (n)
  • 49.12 (a)
twf 36
  • 49 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea F38E9.5 35
  • 46.02 (n)
  • 35.35 (a)
F38E9.5 36
  • 34 (a)
OneToMany
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ABR105C 35
  • 41.63 (n)
  • 30.2 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes TWF1 35
  • 43.53 (n)
  • 30.59 (a)
TWF1 36
  • 24 (a)
OneToMany
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0C15719g 35
  • 45.49 (n)
  • 31.15 (a)
bread mold
(Neurospora crassa)
Ascomycetes NCU07512 35
  • 40.89 (n)
  • 31.99 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes twf1 35
  • 43.27 (n)
  • 28.53 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.9828 36
  • 42 (a)
OneToMany
Species with no ortholog for TWF1:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • 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 TWF1 Gene

ENSEMBL:
Gene Tree for TWF1 (if available)
TreeFam:
Gene Tree for TWF1 (if available)

Paralogs for TWF1 Gene

Paralogs for TWF1 Gene

Selected SIMAP similar genes for TWF1 Gene using alignment to 6 proteins:

Pseudogenes.org Pseudogenes for TWF1 Gene

genes like me logo Genes that share paralogs with TWF1: view

Variants for TWF1 Gene

Sequence variations from dbSNP and Humsavar for TWF1 Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type MAF
rs1373423 -- 43,799,281(+) ACGGA(A/T)TAAAC intron-variant
rs1802561 -- 43,795,326(-) CACTT(C/G)AAATA utr-variant-3-prime, nc-transcript-variant
rs1992604 -- 43,803,150(+) TTCTG(C/T)TCAGA intron-variant
rs3217536 -- 43,806,183(+) CCCGG(-/CTCTCCCGG)AAGCC intron-variant, nc-transcript-variant
rs3764004 -- 43,807,648(-) CAACT(A/G)TACTT upstream-variant-2KB

Relevant External Links for TWF1 Gene

HapMap Linkage Disequilibrium report
TWF1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for TWF1 Gene

Disorders for TWF1 Gene

MalaCards: The human disease database

MalaCards: The human disease database. (1) Diseases for TWF1 Gene including...

Search for TWF1 Gene in MalaCards »

(1) University of Copenhagen DISEASES for TWF1 Gene

Relevant External Links for TWF1

Genetic Association Database (GAD)
TWF1
Human Genome Epidemiology (HuGE) Navigator
TWF1
genes like me logo Genes that share disorders with TWF1: view

No data available for UniProtKB/Swiss-Prot for TWF1 Gene

Publications for TWF1 Gene

  1. Prokaryotic expression cloning of a novel human tyrosine kinase. (PMID: 7507208) Beeler J.F. … Aaronson S.A. (Mol. Cell. Biol. 1994) 2 3 4
  2. Risk of meningioma and common variation in genes related to innate immunity. (PMID: 20406964) Rajaraman P. … Inskip P.D. (Cancer Epidemiol. Biomarkers Prev. 2010) 3 48
  3. Polymorphisms in innate immunity genes and risk of childhood leukemia. (PMID: 20438785) Han S. … Kang D. (Hum. Immunol. 2010) 3 48
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4
  5. Proteins associated with type II bone morphogenetic protein receptor (BMPR-II) and identified by two-dimensional gel electrophoresis and mass spectrometry. (PMID: 15188402) Hassel S. … Souchelnytskyi S. (Proteomics 2004) 3

Products for TWF1 Gene

  • Addgene plasmids for TWF1

Sources for TWF1 Gene

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