DST Gene Summary [Human]

This gene encodes a member of the plakin protein family of adhesion junction plaque proteins. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene, but the full-length nature of some variants has not been defined. It has been reported that some isoforms are expressed in neural and muscle tissue, anchoring neural intermediate filaments to the actin cytoskeleton, and some isoforms are expressed in epithelial tissue, anchoring keratin-containing intermediate filaments to hemidesmosomes. Consistent with the expression, mice defective for this gene show skin blistering and neurodegeneration. [provided by RefSeq, Mar 2010]

Details

Type
Protein Coding
Official Symbol
DST
Official Name
dystonin [Source:HGNC Symbol;Acc:HGNC:1090]
Ensembl ID
ENSG00000151914
Bio databases IDs NCBI: 667 Ensembl: ENSG00000151914
Aliases dystonin
Synonyms 2310001O04Rik, A830042E19RIK, ah, athetoid, BP230, BP240, BPA, Bpag, BPAG1, BPAG1-n, BULLOUS PEMPHIGOID ANTIGEN1, CATX-15, D6S1101, DMH, DT, Dystonin, EBS3, EBSB2, FLJ21489, HSAN6, LOC100506118, LOC100652766, LOC100652827, LOC100996536, MACF2, mKIAA0728, nmf203, nmf339
Species
Human, Homo sapiens
OrthologiesMouseRat

Protein Domains

A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human DST often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • helix-rich Mycoplasma protein
  • Laminin Domain I
  • ERM binding domain
  • Tropomyosin
  • midsegment 1 domain
  • EF hand
  • Plectin repeat
  • tail domain
  • rod domain
  • Mitotic checkpoint protein
  • SPEC
  • Crescentin protein
  • chromosome segregation protein SMC, primarily archaeal type
  • exonuclease SbcC
  • Calponin homology domain
  • EF-hand domain pair
  • Myosin tail
  • EFh
  • protein binding
  • Alpha helical coiled-coil rod protein (HCR)
  • RIM-binding protein of the cytomatrix active zone
  • actin-binding domain
  • integrin binding
  • protein homodimerization
  • Coiled-coil domain-containing protein 158
  • Intermediate filament protein
  • Septation ring formation regulator, EzrA
  • Spectrin like domain
  • SH3 domain
  • Centrosomal colon cancer autoantigen protein family
  • Synaptonemal complex protein 1 (SCP-1)
  • coiled-coil domain
  • chromosome segregation protein SMC, common bacterial type
  • EF-hand domain
  • Myosin-like coiled-coil protein
  • HOOK protein coiled-coil region
  • plakin domain
  • rad50
  • Calcium binding and coiled-coil domain (CALCOCO1) like
  • Protein of unknown function (DUF3584)
  • Growth-Arrest-Specific Protein 2 Domain
  • Domain of unknown function (DUF4659)
  • RecF/RecN/SMC N terminal domain
  • Spectrin repeats
  • intermediate filament binding domain
  • calponin homology (CH) domain superfamily
  • Spectrin repeat
  • Growth-arrest specific micro-tubule binding
  • microtubule plus-end binding

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
  • Charcot-Marie-Tooth disease
  • breast ductal carcinoma in situ
  • ductal in situ breast cancer
  • hereditary disorder
  • pancreatic carcinoma
  • pancreatic epithelial cancer
  • multiple sclerosis
  • schizophrenia
  • infiltrating ductal breast carcinoma
  • invasive ductal breast cancer
regulated by
  • Dengue virus 2 Thailand/NGS-C/1944
  • tacrolimus
  • ERBB2
  • IFNG
  • Influenza A virus (A/Bangkok/RX73(H3N2))
  • dexamethasone
  • SOD1
  • ESR1
  • HNRNPA1
  • ARPE-19 cells
role in cell
  • expression in
  • cell viability
  • cell death
  • activation in
  • degeneration
  • accumulation in
  • formation
  • morphology
  • motility
  • organization

Subcellular Expression

Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
  • Plasma Membrane
  • detergent resistant lipid raft fraction
  • microtubule cytoskeleton
  • intermediate filament cytoskeleton
  • cytoskeleton
  • Cytoplasm
  • perinuclear region
  • cellular membrane
  • focal adhesions
  • actin cytoskeleton
  • Nucleus
  • vesicles
  • microtubules
  • intermediate filaments
  • intercellular junctions
  • hemidesmosomes
  • sarcomere
  • cytosol
  • cytoplasmic face of plasma membrane
  • reticular perinuclear compartment
  • endoplasmic reticulum membrane
  • basal membrane
  • nucleoplasm
  • nuclear envelope
  • nuclear scaffolds
  • neurites
  • axonal rootlet
  • sarcolemma
  • Z line
  • cytoplasmic vesicles
  • actin stress fibers
  • cell membrane leading edge
  • perikaryon
  • axons
  • dendrites
  • postsynaptic density
  • basement membrane

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the human DST gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • cell motility
  • integrin-mediated signaling pathway
  • wound healing
  • cytoskeleton organization
  • hemidesmosome assembly
  • intermediate filament cytoskeleton organization
  • response to wounding
  • maintenance of cell polarity
  • cell adhesion
  • retrograde axon cargo transport

Cellular Component

Where in the cell the gene product is active
  • microtubule cytoskeleton
  • cell leading edge
  • microtubule plus end
  • intermediate filament
  • nucleoplasm
  • endoplasmic reticulum membrane
  • nuclear envelope
  • nucleus
  • Z disc
  • basal plasma membrane
  • basement membrane
  • focal adhesion
  • cytoplasm
  • cell cortex
  • membrane
  • stress fiber
  • H zone
  • cytosol
  • cytoplasmic vesicle
  • hemidesmosome

Molecular Function

What the gene product does at the molecular level
  • protein binding
  • actin binding
  • calcium ion binding
  • microtubule plus-end binding
  • structural molecule activity
  • integrin binding
  • microtubule binding

Gene-Specific Assays for Results You Can Trust

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