[go: up one dir, main page]
More Web Proxy on the site http://driver.im/

Warning: The NCBI web site requires JavaScript to function. more...

U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

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

Gene ID: 5756, updated on 10-Dec-2024

Summary

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; AllianceGenome:HGNC:9620
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
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

See TWF1 in Genome Data Viewer
Location:
12q12
Exon count:
12
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (43793723..43806317, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (43752448..43765042, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (44187526..44200120, complement)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6217 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6218 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6219 Neighboring gene pseudouridine synthase 7 like Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4370 Neighboring gene interleukin 1 receptor associated kinase 4 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:44230125-44230357 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4372 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4371 Neighboring gene transmembrane protein 117 Neighboring gene MPRA-validated peak1704 silencer Neighboring gene NANOG hESC enhancer GRCh37_chr12:44293209-44293937 Neighboring gene MPRA-validated peak1705 silencer Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr12:44318495-44319694 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr12:44373209-44373840 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6220 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr12:44422790-44423989 Neighboring gene zinc finger protein 75B, pseudogene Neighboring gene IQ motif containing F1 pseudogene

Genomic regions, transcripts, and products

Expression

  • Project title: Tissue-specific circular RNA induction during human fetal development
  • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
  • BioProject: PRJNA270632
  • Publication: PMID 26076956
  • Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

HIV-1 interactions

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Clone Names

  • MGC23788, MGC41876

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables ATP binding IDA
Inferred from Direct Assay
more info
PubMed 
enables actin binding IDA
Inferred from Direct Assay
more info
PubMed 
enables actin filament binding IBA
Inferred from Biological aspect of Ancestor
more info
 
enables actin monomer binding IBA
Inferred from Biological aspect of Ancestor
more info
 
enables actin monomer binding ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
enables cadherin binding HDA PubMed 
enables phosphatidylinositol-4,5-bisphosphate binding ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
NOT enables protein tyrosine kinase activity IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
involved_in actin filament depolymerization IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in barbed-end actin filament capping IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in negative regulation of actin filament polymerization ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
involved_in positive regulation of cardiac muscle hypertrophy IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of neuron projection development IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in regulation of lamellipodium assembly IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in sequestering of actin monomers IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in sequestering of actin monomers ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
Component Evidence Code Pubs
located_in actin cytoskeleton ISS
Inferred from Sequence or Structural Similarity
more info
 
is_active_in actin filament IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in cell-cell junction ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in cytosol IDA
Inferred from Direct Assay
more info
 
located_in filopodium ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
located_in focal adhesion HDA PubMed 
is_active_in myofibril IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in myofibril ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
located_in 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 

General protein information

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

NCBI Reference Sequences (RefSeq)

NEW Try the new Transcript table

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_001242397.2NP_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, ENST00000548315.5
    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_002822.5NP_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
    A8K5A8, B3KXS6, B4DLX9, Q12792, Q59G07, Q5U0B1, Q6FHJ1, Q6FHL6, Q6NUK9, Q86XL6, Q8TCD3
    Related
    ENSP00000378886.2, ENST00000395510.7
    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_073472.2 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
  2. NR_073473.2 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

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p14 Primary Assembly

    Range
    43793723..43806317 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047429198.1XP_047285154.1  twinfilin-1 isoform X1

    Related
    ENSP00000448750.1, ENST00000552521.5
  2. XM_047429199.1XP_047285155.1  twinfilin-1 isoform X1

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060936.1 Alternate T2T-CHM13v2.0

    Range
    43752448..43765042 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054372647.1XP_054228622.1  twinfilin-1 isoform X1

  2. XM_054372648.1XP_054228623.1  twinfilin-1 isoform X1

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.