UniProtKB - Q12792 (TWF1_HUMAN)
Twinfilin-1
TWF1
Functioni
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).
By similarityCaution
GO - Molecular functioni
- actin binding Source: UniProtKB
- actin filament binding Source: GO_Central
- actin monomer binding Source: BHF-UCL
- ATP binding Source: BHF-UCL
- cadherin binding Source: BHF-UCL
- phosphatidylinositol-4,5-bisphosphate binding Source: BHF-UCL
GO - Biological processi
- actin filament depolymerization Source: GO_Central
- barbed-end actin filament capping Source: GO_Central
- negative regulation of actin filament polymerization Source: BHF-UCL
- positive regulation of cardiac muscle hypertrophy Source: Ensembl
- positive regulation of neuron projection development Source: GO_Central
- regulation of actin phosphorylation Source: BHF-UCL
- regulation of lamellipodium assembly Source: GO_Central
- sequestering of actin monomers Source: BHF-UCL
Keywordsi
Molecular function | Actin-binding |
Enzyme and pathway databases
PathwayCommonsi | Q12792 |
Reactomei | R-HSA-9013418, RHOBTB2 GTPase cycle R-HSA-9662360, Sensory processing of sound by inner hair cells of the cochlea R-HSA-9662361, Sensory processing of sound by outer hair cells of the cochlea |
SignaLinki | Q12792 |
Names & Taxonomyi
Protein namesi | Recommended name: Twinfilin-1Alternative name(s): Protein A6 Protein tyrosine kinase 9 |
Gene namesi | Name:TWF1 Synonyms:PTK9 |
Organismi | Homo sapiens (Human)Imported |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:9620, TWF1 |
MIMi | 610932, gene |
neXtProti | NX_Q12792 |
VEuPathDBi | HostDB:ENSG00000151239 |
Subcellular locationi
Cytoplasm and Cytosol
Cytoskeleton
- cytoskeleton By similarity
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).By similarity
Cytoskeleton
- actin cytoskeleton Source: UniProtKB
- actin filament Source: GO_Central
Cytosol
- cytosol Source: HPA
Plasma Membrane
- ruffle membrane Source: Ensembl
Other locations
- cell-cell junction Source: BHF-UCL
- cytoplasm Source: GO_Central
- filopodium Source: BHF-UCL
- focal adhesion Source: UniProtKB
- myofibril Source: BHF-UCL
- perinuclear region of cytoplasm Source: BHF-UCL
Keywords - Cellular componenti
Cytoplasm, CytoskeletonPathology & Biotechi
Involvement in diseasei
Keywords - Diseasei
Disease variantOrganism-specific databases
DisGeNETi | 5756 |
OpenTargetsi | ENSG00000151239 |
PharmGKBi | PA162407406 |
Miscellaneous databases
Pharosi | Q12792, Tbio |
Genetic variation databases
BioMutai | TWF1 |
DMDMi | 259016376 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Initiator methioninei | Removed1 Publication | |||
ChainiPRO_0000214950 | 2 – 350 | Twinfilin-1Add BLAST | 349 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 2 | N-acetylserine1 Publication | 1 | |
Modified residuei | 143 | PhosphoserineCombined sources | 1 | |
Modified residuei | 277 | PhosphoserineBy similarity | 1 | |
Modified residuei | 309 | PhosphotyrosineCombined sources | 1 | |
Modified residuei | 349 | PhosphothreonineCombined sources | 1 |
Post-translational modificationi
Keywords - PTMi
Acetylation, PhosphoproteinProteomic databases
EPDi | Q12792 |
jPOSTi | Q12792 |
MassIVEi | Q12792 |
MaxQBi | Q12792 |
PaxDbi | Q12792 |
PeptideAtlasi | Q12792 |
PRIDEi | Q12792 |
ProteomicsDBi | 58933 [Q12792-2] 58934 [Q12792-3] 58935 [Q12792-4] |
2D gel databases
OGPi | Q12792 |
PTM databases
GlyGeni | Q12792, 1 site, 1 O-linked glycan (1 site) |
iPTMneti | Q12792 |
PhosphoSitePlusi | Q12792 |
Expressioni
Tissue specificityi
Gene expression databases
Bgeei | ENSG00000151239, Expressed in palpebral conjunctiva and 246 other tissues |
ExpressionAtlasi | Q12792, baseline and differential |
Genevisiblei | Q12792, HS |
Organism-specific databases
HPAi | ENSG00000151239, Low tissue specificity |
Interactioni
Subunit structurei
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).
By similarity1 PublicationBinary interactionsi
Q12792
With | #Exp. | IntAct |
---|---|---|
CSNK2B [P67870] | 3 | EBI-1056675,EBI-348169 |
GO - Molecular functioni
- actin binding Source: UniProtKB
- actin filament binding Source: GO_Central
- actin monomer binding Source: BHF-UCL
- cadherin binding Source: BHF-UCL
Protein-protein interaction databases
BioGRIDi | 111723, 120 interactors |
IntActi | Q12792, 69 interactors |
MINTi | Q12792 |
STRINGi | 9606.ENSP00000449428 |
Miscellaneous databases
RNActi | Q12792, protein |
Structurei
Secondary structure
3D structure databases
AlphaFoldDBi | Q12792 |
SMRi | Q12792 |
ModBasei | Search... |
PDBe-KBi | Search... |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 2 – 139 | ADF-H 1PROSITE-ProRule annotationAdd BLAST | 138 | |
Domaini | 175 – 313 | ADF-H 2PROSITE-ProRule annotationAdd BLAST | 139 |
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 316 – 350 | DisorderedSequence analysisAdd BLAST | 35 |
Sequence similaritiesi
Keywords - Domaini
RepeatPhylogenomic databases
eggNOGi | KOG1747, Eukaryota |
GeneTreei | ENSGT00530000063868 |
InParanoidi | Q12792 |
OMAi | VKKDWER |
OrthoDBi | 1578109at2759 |
PhylomeDBi | Q12792 |
TreeFami | TF352598 |
Family and domain databases
Gene3Di | 3.40.20.10, 2 hits |
InterProi | View protein in InterPro IPR002108, ADF-H IPR029006, ADF-H/Gelsolin-like_dom_sf IPR028458, Twinfilin |
PANTHERi | PTHR13759, PTHR13759, 1 hit |
Pfami | View protein in Pfam PF00241, Cofilin_ADF, 2 hits |
SMARTi | View protein in SMART SM00102, ADF, 2 hits |
PROSITEi | View protein in PROSITE PS51263, ADF_H, 2 hits |
s (3+)i Sequence
Sequence statusi: Complete.
: The displayed sequence is further processed into a mature form. Sequence processingi
This entry describes 3 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 3 described isoforms and 5 potential isoforms that are computationally mapped.Show allAlign All
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MSHQTGIQAS EDVKEIFARA RNGKYRLLKI SIENEQLVIG SYSQPSDSWD
60 70 80 90 100
KDYDSFVLPL LEDKQPCYIL FRLDSQNAQG YEWIFIAWSP DHSHVRQKML
110 120 130 140 150
YAATRATLKK EFGGGHIKDE VFGTVKEDVS LHGYKKYLLS QSSPAPLTAA
160 170 180 190 200
EEELRQIKIN EVQTDVGVDT KHQTLQGVAF PISREAFQAL EKLNNRQLNY
210 220 230 240 250
VQLEIDIKNE IIILANTTNT ELKDLPKRIP KDSARYHFFL YKHSHEGDYL
260 270 280 290 300
ESIVFIYSMP GYTCSIRERM LYSSCKSRLL EIVERQLQMD VIRKIEIDNG
310 320 330 340 350
DELTADFLYE EVHPKQHAHK QSFAKPKGPA GKRGIRRLIR GPAETEATTD
Computationally mapped potential isoform sequencesi
There are 5 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketF8VS81 | F8VS81_HUMAN | Twinfilin-1 | TWF1 | 291 | Annotation score: | ||
F8W1Q9 | F8W1Q9_HUMAN | Twinfilin-1 | TWF1 | 113 | Annotation score: | ||
F8W1D0 | F8W1D0_HUMAN | Twinfilin-1 | TWF1 | 119 | Annotation score: | ||
F8VRG3 | F8VRG3_HUMAN | Twinfilin-1 | TWF1 | 59 | Annotation score: | ||
F8W645 | F8W645_HUMAN | Twinfilin-1 | TWF1 | 15 | Annotation score: |
Sequence cautioni
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 12 | D → Y in CAG46561 (Ref. 3) Curated | 1 | |
Sequence conflicti | 246 | E → V in BAG54588 (PubMed:14702039).Curated | 1 | |
Sequence conflicti | 269 | R → W in CAG46536 (Ref. 3) Curated | 1 | |
Sequence conflicti | 302 | E → G in BAF83912 (PubMed:14702039).Curated | 1 | |
Sequence conflicti | 329 | P → H in BAG59691 (PubMed:14702039).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length | |
---|---|---|---|---|---|
Isoform 3 (identifier: Q12792-3) | |||||
Natural variantiVAR_082792 | 349 | P → S Found in a patient with isolated coloboma, increases interaction with ACTG1. 1 Publication | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_038075 | 1 – 98 | Missing in isoform 4. 2 PublicationsAdd BLAST | 98 | |
Alternative sequenceiVSP_017899 | 161 | E → ESPEDHIG in isoform 3. 1 Publication | 1 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | U02680 mRNA Translation: AAC50062.1 AK127868 mRNA Translation: BAG54588.1 AK291223 mRNA Translation: BAF83912.1 AK297206 mRNA Translation: BAG59691.1 CR541736 mRNA Translation: CAG46536.1 CR541761 mRNA Translation: CAG46561.1 BT019691 mRNA Translation: AAV38497.1 AB209302 mRNA Translation: BAD92539.1 Different initiation. BC022344 mRNA Translation: AAH22344.1 BC043148 mRNA Translation: AAH43148.2 Different initiation. BC068548 mRNA Translation: AAH68548.1 Different initiation. |
CCDSi | CCDS31780.2 [Q12792-2] CCDS55818.1 [Q12792-3] |
PIRi | A55922 |
RefSeqi | NP_001229326.1, NM_001242397.1 [Q12792-3] NP_002813.3, NM_002822.4 [Q12792-2] |
Genome annotation databases
Ensembli | ENST00000395510.7; ENSP00000378886.2; ENSG00000151239.14 ENST00000548315.5; ENSP00000449428.1; ENSG00000151239.14 [Q12792-3] ENST00000552521.5; ENSP00000448750.1; ENSG00000151239.14 [Q12792-4] |
GeneIDi | 5756 |
KEGGi | hsa:5756 |
MANE-Selecti | ENST00000395510.7; ENSP00000378886.2; NM_002822.5; NP_002813.3 |
UCSCi | uc001roa.4, human [Q12792-2] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Cross-referencesi
Web resourcesi
Protein Spotlight Molecular embrace - Issue 73 of August 2006 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | U02680 mRNA Translation: AAC50062.1 AK127868 mRNA Translation: BAG54588.1 AK291223 mRNA Translation: BAF83912.1 AK297206 mRNA Translation: BAG59691.1 CR541736 mRNA Translation: CAG46536.1 CR541761 mRNA Translation: CAG46561.1 BT019691 mRNA Translation: AAV38497.1 AB209302 mRNA Translation: BAD92539.1 Different initiation. BC022344 mRNA Translation: AAH22344.1 BC043148 mRNA Translation: AAH43148.2 Different initiation. BC068548 mRNA Translation: AAH68548.1 Different initiation. |
CCDSi | CCDS31780.2 [Q12792-2] CCDS55818.1 [Q12792-3] |
PIRi | A55922 |
RefSeqi | NP_001229326.1, NM_001242397.1 [Q12792-3] NP_002813.3, NM_002822.4 [Q12792-2] |
3D structure databases
Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
7CCC | X-ray | 3.20 | B | 1-350 | [»] | |
AlphaFoldDBi | Q12792 | |||||
SMRi | Q12792 | |||||
ModBasei | Search... | |||||
PDBe-KBi | Search... |
Protein-protein interaction databases
BioGRIDi | 111723, 120 interactors |
IntActi | Q12792, 69 interactors |
MINTi | Q12792 |
STRINGi | 9606.ENSP00000449428 |
PTM databases
GlyGeni | Q12792, 1 site, 1 O-linked glycan (1 site) |
iPTMneti | Q12792 |
PhosphoSitePlusi | Q12792 |
Genetic variation databases
BioMutai | TWF1 |
DMDMi | 259016376 |
2D gel databases
OGPi | Q12792 |
Proteomic databases
EPDi | Q12792 |
jPOSTi | Q12792 |
MassIVEi | Q12792 |
MaxQBi | Q12792 |
PaxDbi | Q12792 |
PeptideAtlasi | Q12792 |
PRIDEi | Q12792 |
ProteomicsDBi | 58933 [Q12792-2] 58934 [Q12792-3] 58935 [Q12792-4] |
Protocols and materials databases
Antibodypediai | 13271, 357 antibodies from 30 providers |
DNASUi | 5756 |
Genome annotation databases
Ensembli | ENST00000395510.7; ENSP00000378886.2; ENSG00000151239.14 ENST00000548315.5; ENSP00000449428.1; ENSG00000151239.14 [Q12792-3] ENST00000552521.5; ENSP00000448750.1; ENSG00000151239.14 [Q12792-4] |
GeneIDi | 5756 |
KEGGi | hsa:5756 |
MANE-Selecti | ENST00000395510.7; ENSP00000378886.2; NM_002822.5; NP_002813.3 |
UCSCi | uc001roa.4, human [Q12792-2] |
Organism-specific databases
CTDi | 5756 |
DisGeNETi | 5756 |
GeneCardsi | TWF1 |
HGNCi | HGNC:9620, TWF1 |
HPAi | ENSG00000151239, Low tissue specificity |
MIMi | 610932, gene |
neXtProti | NX_Q12792 |
OpenTargetsi | ENSG00000151239 |
PharmGKBi | PA162407406 |
VEuPathDBi | HostDB:ENSG00000151239 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG1747, Eukaryota |
GeneTreei | ENSGT00530000063868 |
InParanoidi | Q12792 |
OMAi | VKKDWER |
OrthoDBi | 1578109at2759 |
PhylomeDBi | Q12792 |
TreeFami | TF352598 |
Enzyme and pathway databases
PathwayCommonsi | Q12792 |
Reactomei | R-HSA-9013418, RHOBTB2 GTPase cycle R-HSA-9662360, Sensory processing of sound by inner hair cells of the cochlea R-HSA-9662361, Sensory processing of sound by outer hair cells of the cochlea |
SignaLinki | Q12792 |
Miscellaneous databases
BioGRID-ORCSi | 5756, 101 hits in 1081 CRISPR screens |
ChiTaRSi | TWF1, human |
GeneWikii | TWF1 |
GenomeRNAii | 5756 |
Pharosi | Q12792, Tbio |
PROi | PR:Q12792 |
RNActi | Q12792, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000151239, Expressed in palpebral conjunctiva and 246 other tissues |
ExpressionAtlasi | Q12792, baseline and differential |
Genevisiblei | Q12792, HS |
Family and domain databases
Gene3Di | 3.40.20.10, 2 hits |
InterProi | View protein in InterPro IPR002108, ADF-H IPR029006, ADF-H/Gelsolin-like_dom_sf IPR028458, Twinfilin |
PANTHERi | PTHR13759, PTHR13759, 1 hit |
Pfami | View protein in Pfam PF00241, Cofilin_ADF, 2 hits |
SMARTi | View protein in SMART SM00102, ADF, 2 hits |
PROSITEi | View protein in PROSITE PS51263, ADF_H, 2 hits |
MobiDBi | Search... |
Entry informationi
Entry namei | TWF1_HUMAN | |
Accessioni | Q12792Primary (citable) accession number: Q12792 Secondary accession number(s): A8K5A8 Q8TCD3 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | February 2, 2004 |
Last sequence update: | September 22, 2009 | |
Last modified: | May 25, 2022 | |
This is version 192 of the entry and version 3 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
3D-structure, Direct protein sequencing, Reference proteomeDocuments
- Human chromosome 12
Human chromosome 12: entries, gene names and cross-references to MIM - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - PDB cross-references
Index of Protein Data Bank (PDB) cross-references - SIMILARITY comments
Index of protein domains and families - Protein Spotlight
Protein Spotlight articles and cited UniProtKB/Swiss-Prot entries