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    TWF1 twinfilin actin binding protein 1 [ Homo sapiens (human) ]

    Gene ID: 5756, updated on 8-Apr-2018
    Official Symbol
    TWF1provided by HGNC
    Official Full Name
    twinfilin actin binding protein 1provided by HGNC
    Primary source
    HGNC:HGNC:9620
    See related
    Ensembl:ENSG00000151239 MIM:610932; Vega:OTTHUMG00000169426
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    A6; PTK9
    Summary
    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]
    Expression
    Ubiquitous expression in esophagus (RPKM 46.7), thyroid (RPKM 44.3) and 25 other tissues See more
    Orthologs
    See TWF1 in Genome Data Viewer
    Location:
    12q12
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 12 NC_000012.12 (43793723..43806375, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (44187526..44200178, complement)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene pseudouridylate synthase 7 like Neighboring gene interleukin 1 receptor associated kinase 4 Neighboring gene transmembrane protein 117 Neighboring gene zinc finger protein 75B, pseudogene Neighboring gene IQ motif containing F1 pseudogene

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Replication interactions

    Interaction Pubs
    Knockdown of twinfilin, actin-binding protein, homolog 1 (TWF1) by siRNA inhibits HIV-1 replication in HeLa P4/R5 cells PubMed

    Protein interactions

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp120 env Genes, including GABRP, ADF, HINT, PRSS2, SDCBP, PTK9, PPP2R5B, ITGA3, PRKCBP1, HMOX2, HAT1, PPP1cB, and ICAM-1, are upregulated after treatment of human astrocytes with HIV-1 gp120 PubMed

    Go to the HIV-1, Human Interaction Database

    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • MGC23788, MGC41876

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    ATP binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    actin binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    actin filament binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    actin monomer binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    actin monomer binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    cadherin binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    phosphatidylinositol-4,5-bisphosphate binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    NOT protein tyrosine kinase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein-containing complex binding IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    actin filament depolymerization IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    barbed-end actin filament capping IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    barbed-end actin filament capping IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of actin filament polymerization ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    positive regulation of cardiac muscle hypertrophy IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of neuron projection development IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    regulation of actin phosphorylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    regulation of lamellipodium assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    sequestering of actin monomers IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    sequestering of actin monomers ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    Component Evidence Code Pubs
    actin cytoskeleton ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    actin filament IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    cell-cell junction ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    cytosol IDA
    Inferred from Direct Assay
    more info
     
    filopodium ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    focal adhesion HDA PubMed 
    myofibril IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    myofibril ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    perinuclear region of cytoplasm ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    colocalizes_with ruffle membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    Preferred Names
    twinfilin-1
    Names
    A6 protein tyrosine kinase
    PTK9 protein tyrosine kinase 9
    protein A6
    protein tyrosine kinase 9
    twinfilin, actin-binding protein, homolog 1

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001242397.1NP_001229326.1  twinfilin-1 isoform 1

      See identical proteins and their annotated locations for NP_001229326.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      AB209302, BC043148
      Consensus CDS
      CCDS55818.1
      UniProtKB/Swiss-Prot
      Q12792
      Related
      ENSP00000449428.1, OTTHUMP00000241050, ENST00000548315.5, OTTHUMT00000403959
      Conserved Domains (2) summary
      cd11284
      Location:183318
      ADF_Twf-C_like; C-terminal ADF domain of twinfilin and related proteins
      cd11285
      Location:4142
      ADF_Twf-N_like; N-terminal ADF domain of twinfilin and related proteins
    2. NM_002822.4NP_002813.3  twinfilin-1 isoform 2

      See identical proteins and their annotated locations for NP_002813.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an in-frame exon in the coding region, compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
      Source sequence(s)
      BC043148
      Consensus CDS
      CCDS31780.2
      UniProtKB/Swiss-Prot
      Q12792
      Related
      ENSP00000378886.2, OTTHUMP00000241048, ENST00000395510.6, OTTHUMT00000403956
      Conserved Domains (2) summary
      cd11284
      Location:176311
      ADF_Twf-C_like; C-terminal ADF domain of twinfilin and related proteins
      cd11285
      Location:4142
      ADF_Twf-N_like; N-terminal ADF domain of twinfilin and related proteins

    RNA

    1. NR_073472.1 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) uses an alternate splice site in the 5' region and lacks an internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AK127868, BC043148
      Related
      ENST00000547459.5, OTTHUMT00000403957
    2. NR_073473.1 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) has an additional exon in the 5' region and lacks a downstream internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      BC022344, BC043148
      Related
      ENST00000552521.5, OTTHUMT00000403955

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000012.12 Reference GRCh38.p12 Primary Assembly

      Range
      43793723..43806375 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_198974.1: Suppressed sequence

      Description
      NM_198974.1: This RefSeq was permanently suppressed because it contains the wrong CDS.
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