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UniProtKB - Q12792 (TWF1_HUMAN)

Entry version 188 (07 Apr 2021)
Sequence version 3 (22 Sep 2009)
Previous versions | rss
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Protein

Twinfilin-1

Gene

TWF1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>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

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionActin-binding

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		Q12792

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Twinfilin-1
Alternative name(s):
Protein A6
Protein tyrosine kinase 9
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:TWF1
Synonyms:PTK9
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)Imported
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes%5Fmanual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 12

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:9620, TWF1

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		610932, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q12792

Eukaryotic Pathogen, Vector and Host Database Resources

More...VEuPathDBi		HostDB:ENSG00000151239.13

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Keywords - Cellular componenti

Cytoplasm, Cytoskeleton

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the 'Pathology and Biotech' section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>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 variant

Organism-specific databases

DisGeNET

More...DisGeNETi		5756

Open Targets

More...OpenTargetsi		ENSG00000151239

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA162407406

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q12792, Tbio

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		TWF1

Domain mapping of disease mutations (DMDM)

More...DMDMi		259016376

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM / Processing</a> section indicates that the initiator methionine is cleaved from the mature protein.<p><a href='/help/init_met' target='_top'>More...</a></p>Initiator methionineiRemoved1 Publication
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00002149502 – 350Twinfilin-1Add BLAST349

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei2N-acetylserine1 Publication1
Modified residuei143PhosphoserineCombined sources1
Modified residuei277PhosphoserineBy similarity1
Modified residuei309PhosphotyrosineCombined sources1
Modified residuei349PhosphothreonineCombined sources1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

Phosphorylated on serine and threonine residues.1 Publication

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		Q12792

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q12792

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q12792

PaxDb, a database of protein abundance averages across all three domains of life

More...PaxDbi		Q12792

PeptideAtlas

More...PeptideAtlasi		Q12792

PRoteomics IDEntifications database

More...PRIDEi		Q12792

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		58933 [Q12792-2]
58934 [Q12792-3]
58935 [Q12792-4]

2D gel databases

USC-OGP 2-DE database

More...OGPi		Q12792

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q12792

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...PhosphoSitePlusi		Q12792

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the 'Expression' section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified 'at protein level'.<br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>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

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000151239, Expressed in palpebral conjunctiva and 245 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q12792, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q12792, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000151239, Low tissue specificity

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction%5Fsection">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>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

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection">Interaction</a>' section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

GO - Molecular functioni

Complete GO annotation on QuickGO ...

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		111723, 84 interactors

Protein interaction database and analysis system

More...IntActi		Q12792, 42 interactors

Molecular INTeraction database

More...MINTi		Q12792

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000449428

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q12792, protein

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...SMRi		Q12792

Database of comparative protein structure models

More...ModBasei		Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family%5Fand%5Fdomains%5Fsection">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini2 – 139ADF-H 1PROSITE-ProRule annotationAdd BLAST138
Domaini175 – 313ADF-H 2PROSITE-ProRule annotationAdd BLAST139

<p>This subsection of the 'Family and domains' section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the actin-binding proteins ADF family. Twinfilin subfamily.Curated

Keywords - Domaini

Repeat

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG1747, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00530000063868

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q12792

Identification of Orthologs from Complete Genome Data

More...OMAi		LFIYTCP

Database of Orthologous Groups

More...OrthoDBi		1578109at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q12792

TreeFam database of animal gene trees

More...TreeFami		TF352598

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...Gene3Di		3.40.20.10, 2 hits

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR002108, ADF-H
IPR029006, ADF-H/Gelsolin-like_dom_sf
IPR028458, Twinfilin

The PANTHER Classification System

More...PANTHERi		PTHR13759, PTHR13759, 1 hit

Pfam protein domain database

More...Pfami		View protein in Pfam
PF00241, Cofilin_ADF, 2 hits

Simple Modular Architecture Research Tool; a protein domain database

More...SMARTi		View protein in SMART
SM00102, ADF, 2 hits

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS51263, ADF_H, 2 hits

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (3+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 3 <p>This subsection of the 'Sequence' section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform. This section is only present in reviewed entries, i.e. in UniProtKB/Swiss-Prot.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 3 described isoforms and 5 potential isoforms that are computationally mapped.Show allAlign All

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

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali 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
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> 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

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 5 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
F8VS81F8VS81_HUMAN
Twinfilin-1
TWF1
291Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
F8W1Q9F8W1Q9_HUMAN
Twinfilin-1
TWF1
113Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
F8W1D0F8W1D0_HUMAN
Twinfilin-1
TWF1
119Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
F8VRG3F8VRG3_HUMAN
Twinfilin-1
TWF1
59Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
F8W645F8W645_HUMAN
Twinfilin-1
TWF1
15Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

<p>This subsection of the 'Sequence' section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>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
<p>This subsection of the 'Sequence' section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>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)
<p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_082792349P → S Found in a patient with isolated coloboma, increases interaction with ACTG1. 1 Publication1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>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:

EMBL nucleotide sequence database

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...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.

The Consensus CDS (CCDS) project

More...CCDSi		CCDS31780.2 [Q12792-2]
CCDS55818.1 [Q12792-3]

Protein sequence database of the Protein Information Resource

More...PIRi		A55922

NCBI Reference Sequences

More...RefSeqi		NP_001229326.1, NM_001242397.1 [Q12792-3]
NP_002813.3, NM_002822.4 [Q12792-2]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000395510; ENSP00000378886; ENSG00000151239 [Q12792-2]
ENST00000548315; ENSP00000449428; ENSG00000151239 [Q12792-3]
ENST00000552521; ENSP00000448750; ENSG00000151239 [Q12792-4]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		5756

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:5756

UCSC genome browser

More...UCSCi		uc001roa.4, human [Q12792-2]

Keywords - Coding sequence diversityi

Alternative splicing

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross%5Freferences%5Fsection">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>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.
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]

3D structure databases

SMRiQ12792
ModBaseiSearch...

Protein-protein interaction databases

BioGRIDi111723, 84 interactors
IntActiQ12792, 42 interactors
MINTiQ12792
STRINGi9606.ENSP00000449428

PTM databases

iPTMnetiQ12792
PhosphoSitePlusiQ12792

Genetic variation databases

BioMutaiTWF1
DMDMi259016376

2D gel databases

OGPiQ12792

Proteomic databases

EPDiQ12792
jPOSTiQ12792
MassIVEiQ12792
PaxDbiQ12792
PeptideAtlasiQ12792
PRIDEiQ12792
ProteomicsDBi58933 [Q12792-2]
58934 [Q12792-3]
58935 [Q12792-4]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		13271, 349 antibodies

The DNASU plasmid repository

More...DNASUi		5756

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]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		5756
DisGeNETi5756

GeneCards: human genes, protein and diseases

More...GeneCardsi		TWF1
HGNCiHGNC:9620, TWF1
HPAiENSG00000151239, Low tissue specificity
MIMi610932, gene
neXtProtiNX_Q12792
OpenTargetsiENSG00000151239
PharmGKBiPA162407406
VEuPathDBiHostDB:ENSG00000151239.13

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG1747, Eukaryota
GeneTreeiENSGT00530000063868
InParanoidiQ12792
OMAiLFIYTCP
OrthoDBi1578109at2759
PhylomeDBiQ12792
TreeFamiTF352598

Enzyme and pathway databases

PathwayCommonsiQ12792

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		5756, 94 hits in 995 CRISPR screens

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...ChiTaRSi		TWF1, human

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		TWF1

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...GenomeRNAii		5756
PharosiQ12792, Tbio

Protein Ontology

More...PROi		PR:Q12792
RNActiQ12792, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000151239, Expressed in palpebral conjunctiva and 245 other tissues
ExpressionAtlasiQ12792, baseline and differential
GenevisibleiQ12792, HS

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

ProtoNet; Automatic hierarchical classification of proteins

More...ProtoNeti		Search...

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiTWF1_HUMAN
<p>This subsection of the 'Entry information' section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called 'Primary (citable) accession number'.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q12792
Secondary accession number(s): A8K5A8
, B3KXS6, B4DLX9, Q59G07, Q5U0B1, Q6FHJ1, Q6FHL6, Q6NUK9, Q86XL6, Q8TCD3
<p>This subsection of the 'Entry information' section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification ('Last modified'). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: February 2, 2004
Last sequence update: September 22, 2009
Last modified: April 7, 2021
This is version 188 of the entry and version 3 of the sequence. See complete history.
<p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Direct protein sequencing, Reference proteome

Documents

  1. Human chromosome 12
    Human chromosome 12: entries, gene names and cross-references to MIM
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. SIMILARITY comments
    Index of protein domains and families
  4. Protein Spotlight
    Protein Spotlight articles and cited UniProtKB/Swiss-Prot entries
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