TWF1
entrez
5756
canonical
uniprot
Q12792
canonical
ensembl
ENSG00000151239
resolver
ensp
ENSP00000378886
resolver
ensp
ENSP00000448750
resolver
ensp
ENSP00000449428
resolver
genesymbol
TWF1
resolver
genesymbol_syn
PTK9
resolver
hgnc
HGNC:9620
resolver
uniprot
A8K5A8
resolver
uniprot
B3KXS6
resolver
uniprot
B4DLX9
resolver
uniprot
Q59G07
resolver
uniprot
Q5U0B1
resolver
uniprot
Q6FHJ1
resolver
uniprot
Q6FHL6
resolver
uniprot
Q6NUK9
resolver
uniprot
Q86XL6
resolver
uniprot
Q8TCD3
resolver
uniprot_entry
TWF1_HUMAN
resolver
uniprot_sec
A8K5A8
resolver
uniprot_sec
B3KXS6
resolver
uniprot_sec
B4DLX9
resolver
uniprot_sec
Q59G07
resolver
uniprot_sec
Q5U0B1
resolver
uniprot_sec
Q6FHJ1
resolver
uniprot_sec
Q6FHL6
resolver
uniprot_sec
Q6NUK9
resolver
uniprot_sec
Q86XL6
resolver
uniprot_sec
Q8TCD3
resolver
amino_acid_sequence
MSHQTGIQASEDVKEIFARARNGKYRLLKISIENEQLVIGSYSQPSDSWDKDYDSFVLPLLEDKQPCYILFRLDSQNAQGYEWIFIAWSPDHSHVRQKMLYAATRATLKKEFGGGHIKDEVFGTVKEDVSLHGYKKYLLSQSSPAPLTAAEEELRQIKINEVQTDVGVDTKHQTLQGVAFPISREAFQALEKLNNRQLNYVQLEIDIKNEIIILANTTNTELKDLPKRIPKDSARYHFFLYKHSHEGDYLESIVFIYSMPGYTCSIRERMLYSSCKSRLLEIVERQLQMDVIRKIEIDNGDELTADFLYEEVHPKQHAHKQSFAKPKGPAGKRGIRRLIRGPAETEATTD
uniprot
proteins
disease_involvement
DISEASE: 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}.
uniprot
proteins
function
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). {ECO:0000250}.
uniprot
proteins
mass_dalton
40283
uniprot
proteins
post_translational_modification
PTM: Phosphorylated on serine and threonine residues. {ECO:0000269|PubMed:7507208}.
uniprot
proteins
protein_family
Actin-binding proteins ADF family
uniprot
proteins
protein_family
Twinfilin subfamily
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15592455
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
19690332
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
28493397
uniprot
proteins
pubmed
7507208
uniprot
proteins
sequence_length
350
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm. Cytoplasm, cytoskeleton {ECO:0000250}. 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}.
uniprot
proteins