Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Protein

Twinfilin-1

Gene

TWF1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

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 similarity

Caution

Was originally thought to have protein tyrosine kinase activity.1 Publication

GO - Molecular functioni

  • actin binding Source: UniProtKB
  • 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

  • barbed-end actin filament capping Source: Ensembl
  • negative regulation of actin filament polymerization Source: BHF-UCL
  • positive regulation of cardiac muscle hypertrophy Source: Ensembl
  • regulation of actin phosphorylation Source: BHF-UCL
  • sequestering of actin monomers Source: BHF-UCL

Keywordsi

Molecular functionActin-binding

Names & Taxonomyi

Protein namesi
Recommended name:
Twinfilin-1
Alternative name(s):
Protein A6
Protein tyrosine kinase 9
Gene namesi
Name:TWF1
Synonyms:PTK9
OrganismiHomo sapiens (Human)Imported
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 12

Organism-specific databases

EuPathDBiHostDB:ENSG00000151239.13
HGNCiHGNC:9620 TWF1
MIMi610932 gene
neXtProtiNX_Q12792

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm, Cytoskeleton

Pathology & Biotechi

Involvement in diseasei

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.1 Publication

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi5756
OpenTargetsiENSG00000151239
PharmGKBiPA162407406

Polymorphism and mutation databases

BioMutaiTWF1
DMDMi259016376

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Initiator methionineiRemoved1 Publication
ChainiPRO_00002149502 – 350Twinfilin-1Add BLAST349

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei2N-acetylserine1 Publication1
Modified residuei143PhosphoserineCombined sources1
Modified residuei277PhosphoserineBy similarity1
Modified residuei309PhosphotyrosineCombined sources1
Modified residuei349PhosphothreonineCombined sources1

Post-translational modificationi

Phosphorylated on serine and threonine residues.1 Publication

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

EPDiQ12792
PaxDbiQ12792
PeptideAtlasiQ12792
PRIDEiQ12792

2D gel databases

OGPiQ12792

PTM databases

iPTMnetiQ12792
PhosphoSitePlusiQ12792

Expressioni

Tissue specificityi

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.1 Publication

Gene expression databases

BgeeiENSG00000151239
ExpressionAtlasiQ12792 baseline and differential
GenevisibleiQ12792 HS

Organism-specific databases

HPAiHPA018116

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 Publication

GO - Molecular functioni

  • actin binding Source: UniProtKB
  • actin monomer binding Source: BHF-UCL
  • cadherin binding Source: BHF-UCL

Protein-protein interaction databases

BioGridi111723, 62 interactors
IntActiQ12792, 30 interactors
MINTiQ12792
STRINGi9606.ENSP00000449428

Structurei

3D structure databases

ProteinModelPortaliQ12792
SMRiQ12792
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini2 – 139ADF-H 1PROSITE-ProRule annotationAdd BLAST138
Domaini175 – 313ADF-H 2PROSITE-ProRule annotationAdd BLAST139

Sequence similaritiesi

Keywords - Domaini

Repeat

Phylogenomic databases

eggNOGiKOG1747 Eukaryota
ENOG410XS1J LUCA
GeneTreeiENSGT00530000063868
HOVERGENiHBG000848
InParanoidiQ12792
KOiK08870
OMAiYDYLQFR
OrthoDBiEOG091G0BWK
PhylomeDBiQ12792
TreeFamiTF352598

Family and domain databases

Gene3Di3.40.20.10, 2 hits
InterProiView protein in InterPro
IPR002108 ADF-H
IPR029006 ADF-H/Gelsolin-like_dom_sf
IPR028458 Twinfilin
PANTHERiPTHR13759 PTHR13759, 1 hit
PfamiView protein in Pfam
PF00241 Cofilin_ADF, 2 hits
SMARTiView protein in SMART
SM00102 ADF, 2 hits
PROSITEiView protein in PROSITE
PS51263 ADF_H, 2 hits

Sequences (3)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1Curated (identifier: Q12792-2) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        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
Length:350
Mass (Da):40,283
Last modified:September 22, 2009 - v3
Checksum:i5F68A6946E969A80
GO
Isoform 3 (identifier: Q12792-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     161-161: E → ESPEDHIG

Show »
Length:357
Mass (Da):41,018
Checksum:i826E95A7D995033B
GO
Isoform 4 (identifier: Q12792-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-98: Missing.

Show »
Length:252
Mass (Da):28,823
Checksum:iCCE0A5A82BBE109D
GO

Sequence cautioni

The sequence AAH43148 differs from that shown. Reason: Erroneous initiation.Curated
The sequence AAH68548 differs from that shown. Reason: Erroneous initiation.Curated
The sequence BAD92539 differs from that shown. Reason: Erroneous initiation.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti12D → Y in CAG46561 (Ref. 3) Curated1
Sequence conflicti246E → V in BAG54588 (PubMed:14702039).Curated1
Sequence conflicti269R → W in CAG46536 (Ref. 3) Curated1
Sequence conflicti302E → G in BAF83912 (PubMed:14702039).Curated1
Sequence conflicti329P → H in BAG59691 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Isoform 3 (identifier: Q12792-3)
Natural varianti349P → S Found in a patient with isolated coloboma, increases interaction with ACTG1. 1 Publication1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0380751 – 98Missing in isoform 4. 2 PublicationsAdd BLAST98
Alternative sequenceiVSP_017899161E → ESPEDHIG in isoform 3. 1 Publication1

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.
CCDSiCCDS31780.2 [Q12792-2]
CCDS55818.1 [Q12792-3]
PIRiA55922
RefSeqiNP_001229326.1, NM_001242397.1 [Q12792-3]
NP_002813.3, NM_002822.4 [Q12792-2]
UniGeneiHs.189075
Hs.313056

Genome annotation databases

EnsembliENST00000395510; ENSP00000378886; ENSG00000151239 [Q12792-2]
ENST00000548315; ENSP00000449428; ENSG00000151239 [Q12792-3]
ENST00000552521; ENSP00000448750; ENSG00000151239 [Q12792-4]
GeneIDi5756
KEGGihsa:5756
UCSCiuc001roa.4 human [Q12792-2]

Keywords - Coding sequence diversityi

Alternative splicing

Similar proteinsi

Entry informationi

Entry nameiTWF1_HUMAN
AccessioniPrimary (citable) accession number: Q12792
Secondary accession number(s): A8K5A8
, B3KXS6, B4DLX9, Q59G07, Q5U0B1, Q6FHJ1, Q6FHL6, Q6NUK9, Q86XL6, Q8TCD3
Entry historyiIntegrated into UniProtKB/Swiss-Prot: February 2, 2004
Last sequence update: September 22, 2009
Last modified: April 25, 2018
This is version 164 of the entry and version 3 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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

Complete proteome, Direct protein sequencing, Reference proteome
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health