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

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: mouse all
NEW: Try the new Gene table
Try the new Transcript table

Genomic context

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_000012.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help

See details

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 Apr 4 07:08:55 2018

Bibliography

Go to the top of the page Help

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

TWF1 induces autophagy and accelerates malignant phenotype in lung adenocarcinoma via inhibiting the cAMP signaling pathway.
Title: TWF1 induces autophagy and accelerates malignant phenotype in lung adenocarcinoma via inhibiting the cAMP signaling pathway.
Long non-coding RNA FGD5-AS1 contributes to cisplatin resistance in hepatocellular carcinoma via sponging microRNA-153-3p by upregulating Twinfilin Actin Binding Protein 1 (TWF1).
Title: Long non-coding RNA FGD5-AS1 contributes to cisplatin resistance in hepatocellular carcinoma via sponging microRNA-153-3p by upregulating Twinfilin Actin Binding Protein 1 (TWF1).
Multifunctional Liposomes Enable Active Targeting and Twinfilin 1 Silencing to Reverse Paclitaxel Resistance in Brain Metastatic Breast Cancer.
Title: Multifunctional Liposomes Enable Active Targeting and Twinfilin 1 Silencing to Reverse Paclitaxel Resistance in Brain Metastatic Breast Cancer.
the miR-30c/TWF1 axis may have a role in pancreatic cancer progression
Title: MicroRNA-30c inhibits pancreatic cancer cell proliferation by targeting twinfilin 1 and indicates a poor prognosis.
High TWF1 expression is associated with nonsmall-cell lung cancer.
Title: MicroRNA-486-5p improves nonsmall-cell lung cancer chemotherapy sensitivity and inhibits epithelial-mesenchymal transition by targeting twinfilin actin binding protein 1.
Univariate Cox regression analysis showed high expression of TWF1 to be independent prognostic indicator involved in overall survival and recurrence-free survival in lung adenocarcinoma, but not in lung squamous cell carcinoma
Title: Elevated expression of Twinfilin-1 is correlated with inferior prognosis of lung adenocarcinoma.
TWF1 and VIM are required for miR-30c to regulate breast cancer cell invasion.
Title: MicroRNA-30c targets cytoskeleton genes involved in breast cancer cell invasion.
An interleukin-6 family member, interleukin-11 is identified as a secondary target of twinfilin 1 in the microRNA-30c signalling pathway.
Title: MicroRNA-30c inhibits human breast tumour chemotherapy resistance by regulating TWF1 and IL-11.
protein overexpression promotes cardiomyocyte hypertrophy
Title: Attenuation of microRNA-1 derepresses the cytoskeleton regulatory protein twinfilin-1 to provoke cardiac hypertrophy.
Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
Title: Polymorphisms in innate immunity genes and risk of childhood leukemia.

Submit: New GeneRIF Correction See all GeneRIFs (13)

Phenotypes

Go to the top of the page Help

Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

Go to the top of the page Help

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

Go to the top of the page Help

Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

Go to the top of the page Help

Markers

RH70527 (e-PCR)
- UniSTS:84263

RH143291 (e-PCR)
- UniSTS:232538

RH70015 (e-PCR)
- UniSTS:86407

GDB:451852 (e-PCR)
- UniSTS:157383

D12S1970 (e-PCR)
- UniSTS:72432

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 more info	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 more info	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

Go to the top of the page Help

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)

Go to the top of the page Help

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)

NM_001242397.2 → NP_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:183 → 318

ADF_Twf-C_like; C-terminal ADF domain of twinfilin and related proteins

cd11285
Location:4 → 142

ADF_Twf-N_like; N-terminal ADF domain of twinfilin and related proteins
NM_002822.5 → NP_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:176 → 311

ADF_Twf-C_like; C-terminal ADF domain of twinfilin and related proteins

cd11285
Location:4 → 142

ADF_Twf-N_like; N-terminal ADF domain of twinfilin and related proteins

RNA

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
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