DSTN destrin, actin depolymerizing factor [Homo sapiens (human)] - Gene

Summary

Official Symbol: DSTNprovided by HGNC
Official Full Name: destrin, actin depolymerizing factorprovided by HGNC
Primary source: HGNC:HGNC:15750
See related: Ensembl:ENSG00000125868 MIM:609114; AllianceGenome:HGNC:15750
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: ADF; ACTDP; HEL32; bA462D18.2
Summary: The product of this gene belongs to the actin-binding proteins ADF family. This family of proteins is responsible for enhancing the turnover rate of actin in vivo. This gene encodes the actin depolymerizing protein that severs actin filaments (F-actin) and binds to actin monomers (G-actin). Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]
Expression: Ubiquitous expression in prostate (RPKM 293.6), esophagus (RPKM 273.4) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 20p12.1

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	20	NC_000020.11 (17570075..17609919)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	20	NC_060944.1 (17616166..17660584)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	20	NC_000020.10 (17550720..17590564)

Chromosome 20 - NC_000020.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

DSTN Hypomethylation Promotes Radiotherapy Resistance of Rectal Cancer by Activating the Wnt/beta-Catenin Signaling Pathway.
Title: DSTN Hypomethylation Promotes Radiotherapy Resistance of Rectal Cancer by Activating the Wnt/β-Catenin Signaling Pathway.
Positive natural selection of N6-methyladenosine on the RNAs of processed pseudogenes.
Title: Positive natural selection of N6-methyladenosine on the RNAs of processed pseudogenes.
The actin depolymerizing factor destrin serves as a negative feedback inhibitor of smooth muscle cell differentiation.
Title: The actin depolymerizing factor destrin serves as a negative feedback inhibitor of smooth muscle cell differentiation.
ADF and cofilin-1 collaborate to promote cortical actin flow and the leader bleb-based migration of confined cells.
Title: ADF and cofilin-1 collaborate to promote cortical actin flow and the leader bleb-based migration of confined cells.
Destrin Contributes to Lung Adenocarcinoma Progression by Activating Wnt/beta-Catenin Signaling Pathway.
Title: Destrin Contributes to Lung Adenocarcinoma Progression by Activating Wnt/β-Catenin Signaling Pathway.
analysis of human Cof1, Cof2, and ADF effects on actin filament severing and turnover
Title: TIRF microscopy analysis of human Cof1, Cof2, and ADF effects on actin filament severing and turnover.
Destrin is upregulated in nerve-invasive pancreatic cancer cells and its expression might be related to perineural invasiveness
Title: The actin binding protein destrin is associated with growth and perineural invasion of pancreatic cancer.
The ADF/cofilin1-dependent severing of actin filaments exposes and promotes the activation of SPCA1, which pumps Ca(2+) into the lumen of the TGN for the sorting of the class of secretory cargo that binds Ca(2+).
Title: ADF/cofilin regulates secretory cargo sorting at the TGN via the Ca2+ ATPase SPCA1.
Changes in the expression of cytoskeletal regulatory proteins such as LIMK and cofilin may play a role in weakening thoracic aortic medial tissue, as a precondition to thoracic aortic dissection.
Title: A study of the expression and interaction of Destrin, cofilin, and LIMK in Debakey I type thoracic aortic dissection tissue.
The results of this study suggested that temporally regulated ADF/cofilin activities function in postsynaptic modifications of receptor number and spine size during synaptic plasticity.
Title: ADF/cofilin-mediated actin dynamics regulate AMPA receptor trafficking during synaptic plasticity.

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Phenotypes

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

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Genome-wide association study of antiphospholipid antibodies. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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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

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH93443 (e-PCR)
- UniSTS:92705

RH17904 (e-PCR)
- UniSTS:75566

SHGC-83719 (e-PCR)
- UniSTS:104273

D20S1015 (e-PCR)
- UniSTS:39858

STS-R82498 (e-PCR)
- UniSTS:65223

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables actin filament binding	IBA Inferred from Biological aspect of Ancestor more info
enables actin filament binding	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in actin filament depolymerization	IDA Inferred from Direct Assay more info	PubMed
involved_in actin filament fragmentation	IBA Inferred from Biological aspect of Ancestor more info
involved_in actin filament severing	IBA Inferred from Biological aspect of Ancestor more info
involved_in actin polymerization or depolymerization	TAS Traceable Author Statement more info	PubMed
involved_in cell motility	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of actin filament depolymerization	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
is_active_in actin cytoskeleton	IBA Inferred from Biological aspect of Ancestor more info
located_in cortical actin cytoskeleton	IEA Inferred from Electronic Annotation more info
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in extracellular exosome	HDA more info	PubMed
located_in glutamatergic synapse	IEA Inferred from Electronic Annotation more info
located_in postsynapse	IEA Inferred from Electronic Annotation more info
located_in presynapse	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: destrin

Names: actin-depolymerizing factor; bA462D18.2 (destrin (actin depolymerizing factor ADF) (ACTDP)); epididymis luminal protein 32; epididymis secretory sperm binding protein

NCBI Reference Sequences (RefSeq)

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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_001011546.2 → NP_001011546.1 destrin isoform b

See identical proteins and their annotated locations for NP_001011546.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) contains an additional segment in the coding region compared to variant 1. This difference causes translation initiation at a downstream ATG and an isoform (b) with a shorter N-terminus compared to an isoform a.

Source sequence(s)

AI597935, AL132765, BC009477, BX647319, S65738

Consensus CDS

CCDS46580.1

UniProtKB/TrEMBL

B7Z9M9

Related

ENSP00000476975.1, ENST00000474024.5

Conserved Domains (1) summary

smart00102
Location:2 → 136

ADF; Actin depolymerisation factor/cofilin -like domains
NM_006870.4 → NP_006861.1 destrin isoform a

See identical proteins and their annotated locations for NP_006861.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the shorter transcript, but encodes the longer isoform (a).

Source sequence(s)

AI597935, AL132765, BC009477, S65738

Consensus CDS

CCDS13127.1

UniProtKB/Swiss-Prot

B2R6N2, B4DYA6, P18282, P60981, Q5W166, Q6IAW2

UniProtKB/TrEMBL

B7Z9M9, V9HWA6

Related

ENSP00000246069.6, ENST00000246069.12

Conserved Domains (1) summary

cd11286
Location:3 → 152

ADF_cofilin_like; Cofilin, Destrin, and related actin depolymerizing factors