• Gene id: 5756

Gene Summary

• Gene Symbol: TWF1   Gene   UCSC   Ensembl
• Aliases: A6, PTK9
• Gene name: twinfilin actin binding protein 1
• Alternate names: twinfilin-1, A6 protein tyrosine kinase, PTK9 protein tyrosine kinase 9, protein A6, protein tyrosine kinase 9, twinfilin, actin-binding protein, homolog 1,
• Gene location: 12q12 (43806374: 43793722)     Exons: 11     NC_000012.12
• Gene summary(Entrez): 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
• OMIM: 610932

Protein Summary

• Protein general information: Q12792  
  • Name: Twinfilin 1 (Protein A6) (Protein tyrosine kinase 9)
  • Length: 350  
  • Mass: 40,283
• Sequence:

  MSHQTGIQASEDVKEIFARARNGKYRLLKISIENEQLVIGSYSQPSDSWDKDYDSFVLPLLEDKQPCYILFRLDS
  QNAQGYEWIFIAWSPDHSHVRQKMLYAATRATLKKEFGGGHIKDEVFGTVKEDVSLHGYKKYLLSQSSPAPLTAA
  EEELRQIKINEVQTDVGVDTKHQTLQGVAFPISREAFQALEKLNNRQLNYVQLEIDIKNEIIILANTTNTELKDL
  PKRIPKDSARYHFFLYKHSHEGDYLESIVFIYSMPGYTCSIRERMLYSSCKSRLLEIVERQLQMDVIRKIEIDNG
  DELTADFLYEEVHPKQHAHKQSFAKPKGPAGKRGIRRLIRGPAETEATTD

• Structural information:
  • Protein Domains: ADF-H (2-139)
    ADF-H (175-313)
  • Interpro: IPR002108  IPR029006  IPR028458  
  • Prosite: PS51263
  • STRING: ENSP00000449428
• Other Databases: GeneCards:  TWF1  Malacards:  TWF1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0003785	actin monomer binding	ISS	molecular function
GO:0003785	actin monomer binding	ISS	molecular function
GO:0005524	ATP binding	IDA	molecular function
GO:0005546	phosphatidylinositol-4,5-bisphosphate binding	ISS	molecular function
GO:0005737	cytoplasm	IDA	cellular component
GO:0005911	cell-cell junction	ISS	cellular component
GO:0005925	focal adhesion	IDA	cellular component
GO:0015629	actin cytoskeleton	ISS	cellular component
GO:0018108	peptidyl-tyrosine phosphorylation	IEA	biological process
GO:0030016	myofibril	ISS	cellular component
GO:0030175	filopodium	ISS	cellular component
GO:0030837	negative regulation of actin filament polymerization	ISS	biological process
GO:0032403	protein complex binding	IEA	molecular function
GO:0042989	sequestering of actin monomers	ISS	biological process
GO:0043538	regulation of actin phosphorylation	IDA	biological process
GO:0048471	perinuclear region of cytoplasm	ISS	cellular component
GO:0051016	barbed-end actin filament capping	IEA	biological process
GO:0004713	protein tyrosine kinase activity	IDA	molecular function
GO:0032587	ruffle membrane	ISS	cellular component
GO:0003779	actin binding	IEA	molecular function
GO:0003779	actin binding	IEA	molecular function
GO:0003785	actin monomer binding	IEA	molecular function
GO:0003785	actin monomer binding	ISS	molecular function
GO:0003785	actin monomer binding	ISS	molecular function
GO:0005524	ATP binding	IDA	molecular function
GO:0005546	phosphatidylinositol-4,5-bisphosphate binding	IEA	molecular function
GO:0005546	phosphatidylinositol-4,5-bisphosphate binding	ISS	molecular function
GO:0005622	intracellular	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005911	cell-cell junction	IEA	cellular component
GO:0005911	cell-cell junction	ISS	cellular component
GO:0005925	focal adhesion	IDA	cellular component
GO:0015629	actin cytoskeleton	IEA	cellular component
GO:0015629	actin cytoskeleton	ISS	cellular component
GO:0018108	peptidyl-tyrosine phosphorylation	IEA	biological process
GO:0030016	myofibril	IEA	cellular component
GO:0030016	myofibril	ISS	cellular component
GO:0030175	filopodium	IEA	cellular component
GO:0030175	filopodium	ISS	cellular component
GO:0030837	negative regulation of actin filament polymerization	IEA	biological process
GO:0030837	negative regulation of actin filament polymerization	IEA	biological process
GO:0030837	negative regulation of actin filament polymerization	ISS	biological process
GO:0032403	protein complex binding	IEA	molecular function
GO:0032587	ruffle membrane	IEA	cellular component
GO:0042989	sequestering of actin monomers	IEA	biological process
GO:0042989	sequestering of actin monomers	ISS	biological process
GO:0043538	regulation of actin phosphorylation	IDA	biological process
GO:0048471	perinuclear region of cytoplasm	IEA	cellular component
GO:0048471	perinuclear region of cytoplasm	ISS	cellular component
GO:0051016	barbed-end actin filament capping	IEA	biological process
GO:0004713	protein tyrosine kinase activity	IDA	molecular function
GO:0032587	ruffle membrane	ISS	cellular component
GO:0003785	actin monomer binding	ISS	molecular function
GO:0003785	actin monomer binding	ISS	molecular function
GO:0005524	ATP binding	IDA	molecular function
GO:0005546	phosphatidylinositol-4,5-bisphosphate binding	ISS	molecular function
GO:0005737	cytoplasm	IDA	cellular component
GO:0005911	cell-cell junction	ISS	cellular component
GO:0005925	focal adhesion	IDA	cellular component
GO:0015629	actin cytoskeleton	ISS	cellular component
GO:0030016	myofibril	ISS	cellular component
GO:0030175	filopodium	ISS	cellular component
GO:0030837	negative regulation of actin filament polymerization	ISS	biological process
GO:0042989	sequestering of actin monomers	ISS	biological process
GO:0043538	regulation of actin phosphorylation	IDA	biological process
GO:0048471	perinuclear region of cytoplasm	ISS	cellular component
GO:0004713	protein tyrosine kinase activity	IDA	molecular function
GO:0032587	ruffle membrane	ISS	cellular component

Diseases

Associated diseases	References
Cancer (meningeal)	GAD: 20406964
Unexplained azoospermia	MIK: 26662397
Spermatogenesis defects	MIK: 26662397
Spermatogenic defects	MIK: 31037746
Spermatogenic failure, unexplained azoospermia	MIK: 26662397
Teratozoospermia	MIK: 17327269
Unexplained azoospermia	MIK: 26662397

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
26662397	Unexplained azoospermia	Copy number variations		33 (11 patients with chromosome abnormalities, 16 males with azoospermia)	Male infertility
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R