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MGP000330

UniProt Annotations

Entry Information
Gene Namedystonin
Protein EntryDYST_HUMAN
UniProt IDQ03001
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative promoter usage, Alternative splicing; Named isoforms=8; Name=1; Synonyms=BPAG1-b; IsoId=Q03001-7; Sequence=Displayed; Note=No experimental confirmation available. Derived from EST data.; Name=2; Synonyms=BPAG1-a, BPAG1eA, Dystonin-1, eA; IsoId=Q03001-8; Sequence=VSP_041525, VSP_041535, VSP_041539, VSP_041540; Name=3; Synonyms=BPAG1e, eBPAG1; IsoId=Q03001-3; Sequence=VSP_041525, VSP_041533, VSP_041534; Note=Ref.1 (M69225) sequence is in conflict in positions: 1644:R->T, 2364:S->T, 2495:G->V, 2543:N->K, 2621:A->P. Ref.13 (CAA41528) sequence is in conflict in position: 1943:G->R. Contains a phosphoserine at position 1565. {ECO:0000250, ECO:0000305}; Name=4; Synonyms=BPAG1eA, eB; IsoId=Q03001-9; Sequence=VSP_041525, VSP_041536; Note=Incomplete sequence.; Name=5; IsoId=Q03001-10; Sequence=VSP_041524, VSP_041537, VSP_041538; Note=Incomplete sequence. No experimental confirmation available. Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.; Name=6; Synonyms=BPAG1n1, BPAG1n2, Dystonin-2; IsoId=Q03001-11; Sequence=VSP_041528, VSP_041529; Note=Incomplete sequence. Transmembrane protein (helical transmembrane domain from amino acid 18 to 38). Ref.6 (AAC50244) sequence differs from that shown due to a frameshift in position 51. Ref.6 (AAC50244) sequence is in conflict in position: 48:P->L. {ECO:0000305}; Name=7; Synonyms=BPAG1n3; IsoId=Q03001-12; Sequence=VSP_041526, VSP_041530; Note=Incomplete sequence.; Name=8; IsoId=Q03001-13; Sequence=VSP_041527, VSP_041531, VSP_041532; Note=Probably myristoylated on Gly-2. Probably S-palmitoylated on Cys-5 and Cys-7. {ECO:0000250};
DiseaseEpidermolysis bullosa simplex, autosomal recessive 2 (EBSB2) [MIM:615425]: A form of epidermolysis bullosa, a dermatologic disorder characterized by localized blistering on the dorsal, lateral and plantar surfaces of the feet. EBSB2 is characterized by trauma-induced blistering mainly occurring on the feet and ankles. Ultrastructural analysis of skin biopsy shows abnormal hemidesmosomes with poorly formed inner plaques. {ECO:0000269|PubMed:20164846, ECO:0000269|PubMed:22113475}. Note=The disease is caused by mutations affecting the gene represented in this entry.
DiseaseNeuropathy, hereditary sensory and autonomic, 6 (HSAN6) [MIM:614653]: A form of hereditary sensory and autonomic neuropathy, a genetically and clinically heterogeneous group of disorders characterized by degeneration of dorsal root and autonomic ganglion cells, and by sensory and/or autonomic abnormalities. HSAN6 is a severe autosomal recessive disorder characterized by neonatal hypotonia, respiratory and feeding difficulties, lack of psychomotor development, and autonomic abnormalities including labile cardiovascular function, lack of corneal reflexes leading to corneal scarring, areflexia, and absent axonal flare response after intradermal histamine injection. {ECO:0000269|PubMed:22522446}. Note=The disease is caused by mutations affecting the gene represented in this entry.
DomainIts association with epidermal and simple keratins is dependent on the tertiary structure induced by heterodimerization of these intermedaite filaments proteins and most likely involves recognition sites located in the rod domain of these keratins.
DomainThe microtubule tip localization signal (MtLS) motif; mediates interaction with MAPRE1 and targeting to the growing microtubule plus ends.
FunctionCytoskeletal 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.
FunctionIsoform 3: 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.
FunctionIsoform 6: required for bundling actin filaments around the nucleus. {ECO:0000250}.
FunctionIsoform 7: regulates the organization and stability of the microtubule network of sensory neurons to allow axonal transport.
InteractionP29991:- (xeno); NbExp=4; IntAct=EBI-310758, EBI-8826488; Q9UKG1:APPL1; NbExp=3; IntAct=EBI-310758, EBI-741243; Q9NRI5:DISC1; NbExp=5; IntAct=EBI-310758, EBI-529989; Q15691:MAPRE1; NbExp=2; IntAct=EBI-310758, EBI-1004115; Q61166:Mapre1 (xeno); NbExp=3; IntAct=EBI-310758, EBI-2027055; Q96CV9:OPTN; NbExp=2; IntAct=EBI-310758, EBI-748974;
Sequence CautionSequence=AAA35538.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Sequence of unknown origin in the C-terminal part.; Evidence={ECO:0000305}; Sequence=AAA57185.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=BAB70870.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAC04449.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAC04848.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=CAI14341.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=CAI14989.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=CAI16609.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=CAI16610.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=CAI20330.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=CAI20332.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=CAI22044.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=CAI22045.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};
SimilarityContains 1 actin-binding domain. {ECO:0000305}.
SimilarityContains 1 GAR domain. {ECO:0000255|PROSITE- ProRule:PRU00792}.
SimilarityContains 1 SH3 domain. {ECO:0000305}.
SimilarityContains 20 spectrin repeats. {ECO:0000305}.
SimilarityContains 2 CH (calponin-homology) domains. {ECO:0000255|PROSITE-ProRule:PRU00044}.
SimilarityContains 2 EF-hand domains. {ECO:0000255|PROSITE- ProRule:PRU00448}.
SimilarityContains 5 plectin repeats. {ECO:0000305}.
Subcellular LocationCytoplasm, cytoskeleton {ECO:0000269|PubMed:11751855, ECO:0000269|PubMed:19932097}. Note=Associates with intermediate filaments, acin 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. {ECO:0000250}.
Subcellular LocationIsoform 1: Cytoplasm, cytoskeleton {ECO:0000250}. Cytoplasm, myofibril, sarcomere, Z line. Cytoplasm, myofibril, sarcomere, H zone {ECO:0000250}. Note=Localizes to microtubules and actin microfilaments throughout the cytoplasm and at focal contact attachments at the plasma membrane. {ECO:0000250}.
Subcellular LocationIsoform 2: Cytoplasm, cytoskeleton {ECO:0000250}. Note=Colocalizes both cortical and cytoplasmic actin filaments. {ECO:0000250}.
Subcellular LocationIsoform 3: Cytoplasm, cytoskeleton. Cell junction, hemidesmosome. Note=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. {ECO:0000250}.
Subcellular LocationIsoform 6: Nucleus {ECO:0000250}. Nucleus envelope {ECO:0000269|PubMed:10428034}. Membrane {ECO:0000269|PubMed:10428034}; Single-pass membrane protein {ECO:0000269|PubMed:10428034}. Endoplasmic reticulum membrane {ECO:0000250}; Single-pass membrane protein {ECO:0000250}. Cytoplasm, cytoskeleton {ECO:0000269|PubMed:10428034}. Note=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. {ECO:0000250}.
Subcellular LocationIsoform 7: Cytoplasm, cytoskeleton {ECO:0000269|PubMed:10428034}. Cell projection, axon {ECO:0000269|PubMed:10428034}. Membrane {ECO:0000269|PubMed:10428034}. Note=Associates with axonal microtubules and intermediate filaments, but not with actin cytoskeleton, in sensory neurons.
Subcellular LocationIsoform 8: Cytoplasm, cytoskeleton {ECO:0000250}. Cytoplasm, cell cortex {ECO:0000250}. Cell membrane {ECO:0000250}; Lipid-anchor {ECO:0000250}.
SubunitHomodimer. 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 ERBB2IP (via C-terminus). Isoform 3 associates (via C-terminal) with KRT5-KRT14 (via rod region) intermadiate filaments of keratins. Interacts with MAPRE1; probably required for targeting to the growing microtubule plus ends. Interacts with TMIGD2. {ECO:0000250, ECO:0000269|PubMed:10637308, ECO:0000269|PubMed:11375975, ECO:0000269|PubMed:12482924, ECO:0000269|PubMed:19632184, ECO:0000269|PubMed:19932097, ECO:0000269|PubMed:22419821}.
Tissue SpecificityIsoform 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. {ECO:0000269|PubMed:11751855, ECO:0000269|PubMed:19932097, ECO:0000269|PubMed:8752219}.
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