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Details on Person UniProt:Q03001 DST

Class:Id	ReferenceGeneProduct:144679
_chainChangeLog	chain:1-7570 added on Sat February 7 2015
_displayName	UniProt:Q03001 DST
_timestamp	2025-08-15 21:22:13
chain	chain:1-7570
checksum	1EA992E53D1C243E
comment	FUNCTION Cytoskeletal linker protein. Acts as an integrator of intermediate filaments, actin and microtubule cytoskeleton networks. Required for anchoring either intermediate filaments to the actin cytoskeleton in neural and muscle cells or keratin-containing intermediate filaments to hemidesmosomes in epithelial cells. The proteins may self-aggregate to form filaments or a two-dimensional mesh. Regulates the organization and stability of the microtubule network of sensory neurons to allow axonal transport. Mediates docking of the dynein/dynactin motor complex to vesicle cargos for retrograde axonal transport through its interaction with TMEM108 and DCTN1 (By similarity).FUNCTION Plays a structural role in the assembly of hemidesmosomes of epithelial cells; anchors keratin-containing intermediate filaments to the inner plaque of hemidesmosomes. Required for the regulation of keratinocyte polarity and motility; mediates integrin ITGB4 regulation of RAC1 activity.FUNCTION Required for bundling actin filaments around the nucleus.FUNCTION Regulates the organization and stability of the microtubule network of sensory neurons to allow axonal transport.SUBUNIT Homodimer. Isoform 1 interacts (via N-terminus) with PLEC (via N-terminus). Interacts with the neuronal intermediate filament protein, PRPH. Interacts with DES. Interacts with SYNE3 (By similarity). Isoform 1 and isoform 6 can homodimerize (via N-terminus). Isoform 1 interacts (via N-terminus) with ACTN2. Isoform 1 interacts (via N-terminus) with PLEC (via N-terminus). Isoform 3 interacts (via N-terminus) with COL17A1 (via cytoplasmic region). Isoform 3 interacts (via N-terminus) with ITGB4 isoform beta-4a (via cytoplasmic region). Isoform 3 interacts (via N-terminus) with ERBIN (via C-terminus). Isoform 3 associates (via C-terminal) with KRT5-KRT14 (via rod region) intermediate filaments of keratins. Interacts with MAPRE1; probably required for targeting to the growing microtubule plus ends. Interacts with TMIGD2. Isoform 9 interacts with TMEM108 (By similarity).INTERACTION Associates with intermediate filaments, actin and microtubule cytoskeletons. Localizes to actin stress fibers and to actin-rich ruffling at the cortex of cells (By similarity). Associated at the growing distal tip of microtubules.SUBCELLULAR LOCATION Localizes to microtubules and actin microfilaments throughout the cytoplasm and at focal contact attachments at the plasma membrane.SUBCELLULAR LOCATION Colocalizes both cortical and cytoplasmic actin filaments.SUBCELLULAR LOCATION Localizes to actin and intermediate filaments cytoskeletons (By similarity). Colocalizes with the epidermal KRT5-KRT14 intermediate filaments network of keratins. Colocalizes with ITGB4 at the leading edge of migrating keratinocytes.SUBCELLULAR LOCATION Localizes to actin and intermediate filaments cytoskeletons. Localizes to central actin stress fibers around the nucleus and is excluded form focal contact sites in myoblast cells. Translocates to the nucleus (By similarity). Associates with actin cytoskeleton in sensory neurons.SUBCELLULAR LOCATION Associates with axonal microtubules and intermediate filaments, but not with actin cytoskeleton, in sensory neurons.SUBCELLULAR LOCATION Isoform 1 is expressed in myoblasts (at protein level). Isoform 3 is expressed in the skin. Isoform 6 is expressed in the brain. Highly expressed in skeletal muscle and cultured keratinocytes.DOMAIN Its association with epidermal and simple keratins is dependent on the tertiary structure induced by heterodimerization of these intermediate filaments proteins and most likely involves recognition sites located in the rod domain of these keratins.DOMAIN The microtubule tip localization signal (MtLS) motif; mediates interaction with MAPRE1 and targeting to the growing microtubule plus ends.DISEASE The disease is caused by variants affecting the gene represented in this entry.DISEASE The disease is caused by variants affecting the gene represented in this entry.MISCELLANEOUS Incomplete sequence.MISCELLANEOUS May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.MISCELLANEOUS Incomplete sequence. Transmembrane protein (helical transmembrane domain from amino acid 18 to 38).MISCELLANEOUS Incomplete sequence.MISCELLANEOUS Probably myristoylated on Gly-2. Probably S-palmitoylated on Cys-5 and Cys-7.SEQUENCE CAUTION Contaminating sequence. Sequence of unknown origin in the C-terminal part.SEQUENCE CAUTION Extended N-terminus.SEQUENCE CAUTION Truncated N-terminus.SEQUENCE CAUTION Truncated N-terminus.SEQUENCE CAUTION Truncated N-terminus.
description	recommendedName: fullName evidence="32"Dystonin alternativeName: 230 kDa bullous pemphigoid antigen alternativeName: 230/240 kDa bullous pemphigoid antigen alternativeName: Bullous pemphigoid antigen 1 shortName: BPA shortName: Bullous pemphigoid antigen alternativeName: Dystonia musculorum protein alternativeName: Hemidesmosomal plaque protein
geneName	DST BP230 BP240 BPAG1 DMH DT KIAA0728
identifier	Q03001
isSequenceChanged	FALSE
keyword	3D-structure Actin-binding Alternative promoter usage Alternative splicing Calcium Cell adhesion Cell junction Cell membrane Cell projection Coiled coil Cytoplasm Cytoskeleton Endoplasmic reticulum Epidermolysis bullosa Intermediate filament Isopeptide bond Lipoprotein Membrane Metal-binding Microtubule Muscle protein Neurodegeneration Neuropathy Nucleus Palmitate Phosphoprotein Proteomics identification Reference proteome Repeat SH3 domain Transmembrane Ubl conjugation
modified	[InstanceEdit:9836292] Weiser, Joel, 2023-05-25 [InstanceEdit:9852000] Weiser, Joel, 2023-11-03 [InstanceEdit:9926675] Weiser, Joel, 2024-11-03 [InstanceEdit:9963647] Weiser, Joel, 2025-08-15
name	DST
referenceDatabase	[ReferenceDatabase:2] UniProt
referenceGene	[ReferenceDNASequence:8961124] ENSEMBL:ENSG00000151914 DST [Homo sapiens]
secondaryIdentifier	DYST_HUMAN B7Z3H1 E7ERU0 O94833 Q12825 Q13266 Q13267 Q13775 Q5TBT0 Q5TBT2 Q5TF23 Q5TF24 Q8N1T8 Q8N8J3 Q8WXK8 Q8WXK9 Q96AK9 Q96DQ5 Q96J76 Q96QT5 Q9H555 Q9UGD7 Q9UGD8 Q9UN10
sequenceLength	7570
species	[Species:48887] Homo sapiens
(isoformParent)	[ReferenceIsoform:144675] UniProt:Q03001-3 DST [Homo sapiens] [ReferenceIsoform:2220799] UniProt:Q03001-3 DST [Homo sapiens] [ReferenceIsoform:8974246] UniProt:Q03001-10 DST [Homo sapiens] [ReferenceIsoform:8974247] UniProt:Q03001-11 DST [Homo sapiens] [ReferenceIsoform:8974248] UniProt:Q03001-12 DST [Homo sapiens] [ReferenceIsoform:8974249] UniProt:Q03001-13 DST [Homo sapiens] [ReferenceIsoform:8974250] UniProt:Q03001-7 DST [Homo sapiens] [ReferenceIsoform:8974251] UniProt:Q03001-8 DST [Homo sapiens] [ReferenceIsoform:8974252] UniProt:Q03001-9 DST [Homo sapiens] [ReferenceIsoform:8993592] UniProt:Q03001-14 DST [Homo sapiens]
(referenceEntity)	[EntityWithAccessionedSequence:447008] DST [plasma membrane] [Homo sapiens] [EntityWithAccessionedSequence:8961345] DST [extracellular region] [Homo sapiens]
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No pathways have been reviewed or authored by UniProt:Q03001 DST (144679)