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Aliases for TWF1 Gene

Aliases for TWF1 Gene

  • Twinfilin Actin Binding Protein 1 2 3 5
  • Protein Tyrosine Kinase 9 2 3 4
  • PTK9 Protein Tyrosine Kinase 9 2 3
  • Protein A6 3 4
  • PTK9 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 Baraitser-Winter Syndrome. Among its related pathways are Cytoskeletal Signaling and Sweet Taste Signaling. Gene Ontology (GO) annotations related to this gene include protein tyrosine kinase activity and phosphatidylinositol-4,5-bisphosphate 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

Additional gene information for TWF1 Gene

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

Genomics for TWF1 Gene

GeneHancer (GH) Regulatory Elements for TWF1 Gene

Promoters and enhancers for TWF1 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
GH12J043804 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 660 +0.2 158 2.8 SMAD1 ARID4B SIN3A DMAP1 ZNF2 YY1 POLR2B ZNF766 ZNF213 ZNF207 TWF1 IRAK4 PUS7L TMEM117
GH12J043757 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 10.8 +47.2 47155 3 PKNOX1 ARID4B SIN3A YY1 POLR2B ZNF213 ZNF143 DEK SP3 ZHX2 PUS7L IRAK4 TWF1 TMEM117
GH12J043835 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 5.2 -30.0 -30019 2 ATF1 FOXA2 SMAD1 SIN3A ZNF2 ZNF48 YY1 GLIS2 ZNF213 ZNF143 TMEM117 TWF1 GC12M044008
GH12J043829 Enhancer 0.6 ENCODE 12.7 -23.4 -23395 0.7 OSR2 ZFHX2 ZBTB21 ZNF366 ZNF629 CEBPB ZNF16 PRDM1 ATF2 ZNF18 TWF1 TMEM117 GC12M044008
GH12J043882 Enhancer 0.6 ENCODE 11.2 -76.4 -76378 0.2 CTCF IRF2 ZNF654 ZNF362 TRIM22 REST RAD21 ZNF664 ATF3 KLF16 TMEM117 TWF1 IRAK4 PUS7L GC12M044008
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around TWF1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the TWF1 gene promoter:
  • C/EBPalpha
  • ER-alpha
  • STAT5B
  • AML1a
  • POU6F1 (c2)
  • GR-alpha
  • GR
  • STAT5A
  • Nkx2-2

Genomic Locations for TWF1 Gene

Genomic Locations for TWF1 Gene
chr12:43,793,723-43,806,375
(GRCh38/hg38)
Size:
12,653 bases
Orientation:
Minus strand
chr12:44,187,526-44,200,178
(GRCh37/hg19)
Size:
12,653 bases
Orientation:
Minus strand

Genomic View for TWF1 Gene

Genes around TWF1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TWF1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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). Interacts with ACTG1 (PubMed:28493397).
    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

Post-translational modifications for TWF1 Gene

No data available for DME Specific Peptides for TWF1 Gene

Domains & Families for TWF1 Gene

Gene Families 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 :
  • Belongs to the actin-binding proteins ADF family. Twinfilin subfamily.
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).

Phenotypes From GWAS Catalog for TWF1 Gene

Gene Ontology (GO) - Molecular Function for TWF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003779 actin binding IDA 28493397
GO:0003785 actin monomer binding IEA,ISS 12807912
GO:0004713 NOT protein tyrosine kinase activity IDA 10406962
GO:0005515 protein binding IPI 28493397
GO:0005524 ATP binding IDA 10406962
genes like me logo Genes that share ontologies with TWF1: view
genes like me logo Genes that share phenotypes with TWF1: view

Animal Models for TWF1 Gene

MGI Knock Outs for TWF1:
  • Twf1 Twf1<tm1a(EUCOMM)Wtsi>

Animal Model Products

CRISPR Products

miRNA for TWF1 Gene

miRTarBase miRNAs that target TWF1

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TWF1

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets 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
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 TWF1 gene
Compartment Confidence
cytoskeleton 5
cytosol 5
mitochondrion 3
plasma membrane 2
nucleus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for TWF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular IEA --
GO:0005737 cytoplasm IBA,IEA --
GO:0005829 cytosol IDA --
GO:0005856 cytoskeleton IEA --
GO:0005884 actin filament IBA --
genes like me logo Genes that share ontologies with TWF1: view

Pathways & Interactions 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:0010591 regulation of lamellipodium assembly IBA --
GO:0010613 positive regulation of cardiac muscle hypertrophy IEA --
GO:0010976 positive regulation of neuron projection development IBA --
GO:0030042 actin filament depolymerization IBA --
GO:0030837 negative regulation of actin filament polymerization IEA,ISS 12807912
genes like me logo Genes that share ontologies with TWF1: view

No data available for SIGNOR curated interactions for TWF1 Gene

Drugs & Compounds for TWF1 Gene

No Compound Related Data Available

Transcripts for TWF1 Gene

mRNA/cDNA for TWF1 Gene

Unigene Clusters for TWF1 Gene

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

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TWF1

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 from GTEx, Illumina, BioGPS, and CGAP SAGE for TWF1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for TWF1 Gene



Protein tissue co-expression partners for TWF1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of TWF1 Gene:

TWF1

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.

Evidence on tissue expression from TISSUES for TWF1 Gene

  • Nervous system(4.8)
  • Liver(4.3)
  • Lung(4.3)
  • Kidney(2.6)
  • Skin(2)
genes like me logo Genes that share expression patterns with TWF1: view

No data available for mRNA differential expression in normal tissues , Protein differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer 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 34 33
  • 99.63 (n)
OneToOne
dog
(Canis familiaris)
Mammalia TWF1 34 33
  • 95.24 (n)
OneToOne
cow
(Bos Taurus)
Mammalia TWF1 34 33
  • 93.81 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia -- 34
  • 91 (a)
OneToMany
-- 34
  • 85 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Twf1 33
  • 90.29 (n)
mouse
(Mus musculus)
Mammalia Twf1 16 34 33
  • 88.95 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia TWF1 34
  • 86 (a)
OneToOne
chicken
(Gallus gallus)
Aves TWF1 34 33
  • 81.43 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TWF1 34
  • 83 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia twf1 33
  • 76.57 (n)
zebrafish
(Danio rerio)
Actinopterygii twf1b 34 33
  • 68.12 (n)
OneToMany
twf1a 34
  • 65 (a)
OneToMany
TWF1 (3 of 3) 34
  • 63 (a)
OneToMany
wufd02b03 33
African malaria mosquito
(Anopheles gambiae)
Insecta TWF_ANOGA 33
  • 55.72 (n)
fruit fly
(Drosophila melanogaster)
Insecta twf 34 33
  • 52.92 (n)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea F38E9.5 34 33
  • 46.02 (n)
OneToMany
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0C15719g 33
  • 45.49 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes TWF1 34 33
  • 43.53 (n)
OneToMany
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ABR105C 33
  • 41.63 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes twf1 33
  • 43.27 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.9828 34
  • 42 (a)
OneToMany
bread mold
(Neurospora crassa)
Ascomycetes NCU07512 33
  • 40.89 (n)
Species where no ortholog for TWF1 was found in the sources mined by GeneCards:
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for TWF1: view image

Paralogs for TWF1 Gene

Paralogs for TWF1 Gene

(1) SIMAP similar genes for TWF1 Gene using alignment to 6 proteins:

  • TWF1_HUMAN
  • F8VRG3_HUMAN
  • F8VS81_HUMAN
  • F8W1D0_HUMAN
  • F8W1Q9_HUMAN
  • F8W645_HUMAN

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 Variation AA Info Type
rs1000142159 -- 43,794,431(-) A/C 3_prime_UTR_variant, non_coding_transcript_variant
rs1000407122 -- 43,808,011(-) C/T upstream_transcript_variant
rs1000586723 -- 43,803,626(-) G/C intron_variant
rs1000747327 -- 43,796,078(-) C/T intron_variant
rs1000987648 -- 43,803,331(-) T/C intron_variant

Variation tolerance for TWF1 Gene

Residual Variation Intolerance Score: 50.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.30; 25.94% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for TWF1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
TWF1

SNP Genotyping and Copy Number Assay Products

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

(1) MalaCards diseases for TWF1 Gene - From: DISEASES

Disorder Aliases PubMed IDs
baraitser-winter syndrome
  • iris coloboma with ptosis, hypertelorism, and mental retardation
- elite association - COSMIC cancer census association via MalaCards
Search TWF1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

TWF1_HUMAN
  • Note=Defects in TWF1 has been found in a patient with isolated coloboma, a defect of the eye characterized by the absence of ocular structures due to abnormal morphogenesis of the optic cup and stalk, and the fusion of the fetal fissure (optic fissure). Isolated colobomas may be associated with an abnormally small eye (microphthalmia) or small cornea. {ECO:0000269 PubMed:28493397}.

Additional Disease Information for TWF1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with TWF1: view

No data available for Genatlas for TWF1 Gene

Publications for TWF1 Gene

  1. Prokaryotic expression cloning of a novel human tyrosine kinase. (PMID: 7507208) Beeler JF … Aaronson SA (Molecular and cellular biology 1994) 2 3 4 58
  2. A recurrent de novo mutation in ACTG1 causes isolated ocular coloboma. (PMID: 28493397) Rainger J … FitzPatrick DR (Human mutation 2017) 3 4 58
  3. Risk of meningioma and common variation in genes related to innate immunity. (PMID: 20406964) Rajaraman P … Inskip PD (Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology 2010) 3 44 58
  4. Polymorphisms in innate immunity genes and risk of childhood leukemia. (PMID: 20438785) Han S … Kang D (Human immunology 2010) 3 44 58
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58

Products for TWF1 Gene

Sources for TWF1 Gene

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