Human Gene TWF1 (ENST00000395510.7) from GENCODE V44
  Description: Homo sapiens twinfilin actin binding protein 1 (TWF1), transcript variant 2, mRNA. (from RefSeq NM_002822)
RefSeq Summary (NM_002822): 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].
Gencode Transcript: ENST00000395510.7
Gencode Gene: ENSG00000151239.14
Transcript (Including UTRs)
   Position: hg38 chr12:43,793,723-43,806,317 Size: 12,595 Total Exon Count: 9 Strand: -
Coding Region
   Position: hg38 chr12:43,795,585-43,806,245 Size: 10,661 Coding Exon Count: 9 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsOther NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr12:43,793,723-43,806,317)mRNA (may differ from genome)Protein (350 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
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HGNCHPRDLynxMGIneXtProtOMIM
PubMedUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: TWF1_HUMAN
DESCRIPTION: RecName: Full=Twinfilin-1; AltName: Full=Protein A6; AltName: Full=Protein tyrosine kinase 9;
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).
SUBUNIT: 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).
SUBCELLULAR LOCATION: Cytoplasm. Cytoplasm, 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).
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.
PTM: Phosphorylated on serine and threonine residues.
SIMILARITY: Belongs to the actin-binding proteins ADF family. Twinfilin subfamily.
SIMILARITY: Contains 2 ADF-H domains.
CAUTION: Was originally (PubMed:7507208) thought to have protein tyrosine kinase activity.
SEQUENCE CAUTION: Sequence=AAH43148.2; Type=Erroneous initiation; Sequence=AAH68548.1; Type=Erroneous initiation; Sequence=BAD92539.1; Type=Erroneous initiation;
WEB RESOURCE: Name=Protein Spotlight; Note=Molecular embrace - Issue 73 of August 2006; URL="http://web.expasy.org/spotlight/back_issues/sptlt073.shtml";

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: TWF1
Diseases sorted by gene-association score: baraitser-winter syndrome (2)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 35.27 RPKM in Esophagus - Mucosa
Total median expression: 768.96 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -36.7072-0.510 Picture PostScript Text
3' UTR -414.401862-0.223 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR002108 - Actin-bd_cofilin/tropomyosin

Pfam Domains:
PF00241 - Cofilin/tropomyosin-type actin-binding protein

ModBase Predicted Comparative 3D Structure on Q12792
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-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserGenome BrowserGenome BrowserNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGDEnsemblEnsembl  
Protein SequenceProtein SequenceProtein SequenceProtein Sequence  
AlignmentAlignmentAlignmentAlignment  

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003779 actin binding
GO:0003785 actin monomer binding
GO:0005515 protein binding
GO:0005524 ATP binding
GO:0005546 phosphatidylinositol-4,5-bisphosphate binding
GO:0044877 macromolecular complex binding
GO:0045296 cadherin binding
GO:0004713 protein tyrosine kinase activity

Biological Process:
GO:0010613 positive regulation of cardiac muscle hypertrophy
GO:0030837 negative regulation of actin filament polymerization
GO:0042989 sequestering of actin monomers
GO:0043538 regulation of actin phosphorylation
GO:0051016 barbed-end actin filament capping

Cellular Component:
GO:0005622 intracellular
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0005856 cytoskeleton
GO:0005911 cell-cell junction
GO:0005925 focal adhesion
GO:0015629 actin cytoskeleton
GO:0030016 myofibril
GO:0030175 filopodium
GO:0032587 ruffle membrane
GO:0048471 perinuclear region of cytoplasm


-  Descriptions from all associated GenBank mRNAs
  BC022491 - Homo sapiens cDNA clone IMAGE:4816518, containing frame-shift errors.
BC022344 - Homo sapiens twinfilin, actin-binding protein, homolog 1 (Drosophila), mRNA (cDNA clone MGC:23788 IMAGE:4249251), complete cds.
U02680 - Human protein tyrosine kinase mRNA, complete cds.
BC068548 - Homo sapiens twinfilin, actin-binding protein, homolog 1 (Drosophila), mRNA (cDNA clone IMAGE:30346906), partial cds.
BC043148 - Homo sapiens twinfilin, actin-binding protein, homolog 1 (Drosophila), mRNA (cDNA clone MGC:41876 IMAGE:5297068), complete cds.
AK127868 - Homo sapiens cDNA FLJ45971 fis, clone PLACE7017565, highly similar to Twinfilin-1.
JD350394 - Sequence 331418 from Patent EP1572962.
JD531018 - Sequence 512042 from Patent EP1572962.
JD484226 - Sequence 465250 from Patent EP1572962.
JD423901 - Sequence 404925 from Patent EP1572962.
JD284073 - Sequence 265097 from Patent EP1572962.
JD184559 - Sequence 165583 from Patent EP1572962.
JD109423 - Sequence 90447 from Patent EP1572962.
JD262654 - Sequence 243678 from Patent EP1572962.
JD490775 - Sequence 471799 from Patent EP1572962.
JD434602 - Sequence 415626 from Patent EP1572962.
AK297206 - Homo sapiens cDNA FLJ52233 complete cds, highly similar to Twinfilin-1.
JD216431 - Sequence 197455 from Patent EP1572962.
AK291223 - Homo sapiens cDNA FLJ77129 complete cds, highly similar to Homo sapiens PTK9 protein tyrosine kinase 9 mRNA.
JD349035 - Sequence 330059 from Patent EP1572962.
AB209302 - Homo sapiens mRNA for twinfilin isoform 1 variant protein.
JD284812 - Sequence 265836 from Patent EP1572962.
CR541736 - Homo sapiens full open reading frame cDNA clone RZPDo834F0129D for gene PTK9, PTK9 protein tyrosine kinase 9; complete cds, incl. stopcodon.
CU692574 - Synthetic construct Homo sapiens gateway clone IMAGE:100021860 5' read TWF1 mRNA.
KJ901677 - Synthetic construct Homo sapiens clone ccsbBroadEn_11071 TWF1 gene, encodes complete protein.
KJ905302 - Synthetic construct Homo sapiens clone ccsbBroadEn_14821 TWF1 gene, encodes complete protein.
BT019691 - Homo sapiens PTK9 protein tyrosine kinase 9 mRNA, complete cds.
EU832120 - Synthetic construct Homo sapiens clone HAIB:100067149; DKFZo008C1025 twinfilin, actin-binding protein, homolog 1 (Drosophila) protein (TWF1) gene, encodes complete protein.
EU832214 - Synthetic construct Homo sapiens clone HAIB:100067243; DKFZo004C1026 twinfilin, actin-binding protein, homolog 1 (Drosophila) protein (TWF1) gene, encodes complete protein.
CR541761 - Homo sapiens full open reading frame cDNA clone RZPDo834D0130D for gene PTK9, PTK9 protein tyrosine kinase 9; complete cds, without stopcodon.
AB384914 - Synthetic construct DNA, clone: pF1KB4188, Homo sapiens TWF1 gene for twinfilin-1, complete cds, without stop codon, in Flexi system.
JD026264 - Sequence 7288 from Patent EP1572962.
JD032154 - Sequence 13178 from Patent EP1572962.
JD069368 - Sequence 50392 from Patent EP1572962.
JD177001 - Sequence 158025 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: A8K5A8, B3KXS6, B4DLX9, ENST00000395510.1, ENST00000395510.2, ENST00000395510.3, ENST00000395510.4, ENST00000395510.5, ENST00000395510.6, NM_002822, PTK9, Q12792, Q59G07, Q5U0B1, Q6FHJ1, Q6FHL6, Q6NUK9, Q86XL6, Q8TCD3, TWF1_HUMAN, uc001roa.1, uc001roa.2, uc001roa.3, uc001roa.4, uc001roa.5
UCSC ID: ENST00000395510.7
RefSeq Accession: NM_002822
Protein: Q12792 (aka TWF1_HUMAN)
CCDS: CCDS31780.2, CCDS55818.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.