TWF1 twinfilin, actin-binding protein, homolog 1 (Drosophila) [Homo sapiens] - Gene

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Summary

Official Symbol: TWF1provided by HGNC
Official Full Name: twinfilin, actin-binding protein, homolog 1 (Drosophila)provided by HGNC
Primary source: HGNC:9620
See related: Ensembl:ENSG00000151239; HPRD:10174; 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; MGC23788; MGC41876
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]

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Genomic context

Location :: 12q12

Sequence :: Chromosome: 12; NC_000012.11 (44187526..44200178, complement)

See TWF1 in Epigenomics, MapViewer

Chromosome 12 - NC_000012.11 Genomic Context describing neighboring genes

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Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

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Bibliography

GeneRIFs: Gene References Into Functions What's a GeneRIF?

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.
Observational study of gene-disease association. (HuGE Navigator)
Title: Risk of meningioma and common variation in genes related to innate immunity.
mammals have two twinfilin isoforms, which are differentially expressed and regulated through distinct cellular signaling pathways
Title: Mammals have two twinfilin isoforms whose subcellular localizations and tissue distributions are differentially regulated.
These data suggest that the association with an actin monomer induces a first-order conformational change within the twinfilin molecule.
Title: The two ADF-H domains of twinfilin play functionally distinct roles in interactions with actin monomers.

Submit: New GeneRIF Correction

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Phenotypes

Review eQTL and phenotype association data in this region using PheGenI

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HIV-1 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 Protein Interaction Database

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Products	Interactant	Other Gene	Source	Pubs	Description
Q12792	P68032	ACTC1	HPRD	PubMed
Q12792	Q13873	BMPR2	HPRD	PubMed
BioGRID:111723	BioGRID:113164	UBC	BioGRID	PubMed	Affinity Capture-MS

Function	Evidence Code	Pubs
ATP binding	IDA Inferred from Direct Assay more info	PubMed
actin monomer binding	ISS Inferred from Sequence or Structural Similarity more info	PubMed
phosphatidylinositol-4,5-bisphosphate binding	ISS Inferred from Sequence or Structural Similarity more info	PubMed
NOT protein tyrosine kinase activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
negative regulation of actin filament polymerization	ISS Inferred from Sequence or Structural Similarity more info	PubMed
regulation of actin phosphorylation	IDA Inferred from Direct Assay more info	PubMed
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
cell-cell junction	ISS Inferred from Sequence or Structural Similarity more info	PubMed
cytoplasm	IDA Inferred from Direct Assay more info	PubMed
filopodium	ISS Inferred from Sequence or Structural Similarity more info	PubMed
intracellular	IEA Inferred from Electronic Annotation 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

General protein information

Preferred Names: twinfilin-1

Names: twinfilin-1; protein A6; protein tyrosine kinase 9; A6 protein tyrosine kinase; PTK9 protein tyrosine kinase 9

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NCBI Reference Sequences (RefSeq)

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_001242397.1 → NP_001229326.1 twinfilin-1 isoform 1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).

Source sequence(s)

AB209302, BC043148

Consensus CDS

CCDS55818.1

UniProtKB/Swiss-Prot

Q12792

Related

ENSP00000449428, OTTHUMP00000241050, ENST00000548315, OTTHUMT00000403959

Conserved Domains (1) summary

cd00013
Location:5 – 138
Blast Score: 260

ADF; Actin depolymerisation factor/cofilin -like domains; present in a family of essential eukaryotic actin regulatory proteins; these proteins enhance the turnover rate of actin and interact with actin monomers as well as actin filaments.
NM_002822.4 → NP_002813.3 twinfilin-1 isoform 2

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, OTTHUMP00000241048, ENST00000395510, OTTHUMT00000403956

Conserved Domains (2) summary

cd11284
Location:176 – 311
Blast Score: 451

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

cd11285
Location:4 – 142
Blast Score: 517

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

RefSeqs of Annotated Genomes: Build 37.3

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

Reference GRCh37.p5 Primary Assembly

Genomic

NC_000012.11 Reference GRCh37.p5 Primary Assembly

Range

44187526..44200178, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000144.1 Alternate HuRef

Range

41215942..41228787, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_198974.1: Suppressed sequence

Description

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

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Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AC093012.9 (60672..73324)	None
genomic	CH471111.1	EAW57868.1
		EAW57869.1
		EAW57870.1
mRNA	AB209302.1	BAD92539.1
mRNA	AK127868.1	BAG54588.1
mRNA	AK291223.1	BAF83912.1
mRNA	AK297206.1	BAG59691.1
mRNA	BC022344.1	AAH22344.1
mRNA	BC022491.1	None
mRNA	BC043148.1	AAH43148.2
mRNA	BC068548.1	AAH68548.1
mRNA	BT019691.1	AAV38497.1
mRNA	CR541736.1	CAG46536.1
mRNA	CR541761.1	CAG46561.1
mRNA	U02680.1	AAC50062.1
other-genetic	EU832120.1	ACE87470.1
other-genetic	EU832214.1	ACE86784.1