Desmoplakin
From Wikipedia, the free encyclopedia
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Desmoplakin
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| PDB rendering based on 1lm5. | ||||||||||||||
| Available structures: 1lm5, 1lm7 | ||||||||||||||
| Identifiers | ||||||||||||||
| Symbol(s) | DSP; DPI; DPII | |||||||||||||
| External IDs | OMIM: 125647 MGI: 109611 HomoloGene: 37922 | |||||||||||||
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| RNA expression pattern | ||||||||||||||
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| Orthologs | ||||||||||||||
| Human | Mouse | |||||||||||||
| Entrez | 1832 | 109620 | ||||||||||||
| Ensembl | ENSG00000096696 | ENSMUSG00000054889 | ||||||||||||
| Uniprot | P15924 | n/a | ||||||||||||
| Refseq | NM_001008844 (mRNA) NP_001008844 (protein) |
XM_621314 (mRNA) XP_621314 (protein) |
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| Location | Chr 6: 7.49 - 7.53 Mb | Chr 13: 38.2 - 38.21 Mb | ||||||||||||
| Pubmed search | [1] | [2] | ||||||||||||
Desmoplakin is a protein associated with desmosomes.
Desmoplakin, also known as DSP, is a human gene.[1]
Desmosomes are intercellular junctions that tightly link adjacent cells. Desmoplakin is an obligate component of functional desmosomes that anchors intermediate filaments to desmosomal plaques. The N-terminus of desmoplakin is required for localization to the desmosome and interacts with the N-terminal region of plakophilin 1 and plakoglobin. The C-terminus of desmoplakin binds with intermediate filaments. In the mid-region of desmoplakin, a coiled-coiled rod domain is responsible for homodimerization. Mutations in this gene are the cause of several cardiomyopathies and keratodermas as well as the autoimmune disease paraneoplastic pemphigus.[1]
[edit] References
[edit] Further reading
- Presland RB, Dale BA (2001). "Epithelial structural proteins of the skin and oral cavity: function in health and disease.". Crit. Rev. Oral Biol. Med. 11 (4): 383–408. PMID 11132762.
- Green KJ, Parry DA, Steinert PM, et al. (1990). "Structure of the human desmoplakins. Implications for function in the desmosomal plaque.". J. Biol. Chem. 265 (5): 2603–12. PMID 1689290.
- Just M, Herbst H, Hummel M, et al. (1991). "Undulin is a novel member of the fibronectin-tenascin family of extracellular matrix glycoproteins.". J. Biol. Chem. 266 (26): 17326–32. PMID 1716629.
- Virata ML, Wagner RM, Parry DA, Green KJ (1992). "Molecular structure of the human desmoplakin I and II amino terminus.". Proc. Natl. Acad. Sci. U.S.A. 89 (2): 544–8. PMID 1731325.
- Arnemann J, Spurr NK, Wheeler GN, et al. (1991). "Chromosomal assignment of the human genes coding for the major proteins of the desmosome junction, desmoglein DGI (DSG), desmocollins DGII/III (DSC), desmoplakins DPI/II (DSP), and plakoglobin DPIII (JUP).". Genomics 10 (3): 640–5. PMID 1889810.
- Anhalt GJ, Kim SC, Stanley JR, et al. (1991). "Paraneoplastic pemphigus. An autoimmune mucocutaneous disease associated with neoplasia.". N. Engl. J. Med. 323 (25): 1729–35. PMID 2247105.
- Green KJ, Parry DA, Steinert PM, et al. (1990). "Structure of the human desmoplakins. Implications for function in the desmosomal plaque.". J. Biol. Chem. 265 (19): 11406–7. PMID 2391353.
- Stappenbeck TS, Lamb JA, Corcoran CM, Green KJ (1994). "Phosphorylation of the desmoplakin COOH terminus negatively regulates its interaction with keratin intermediate filament networks.". J. Biol. Chem. 269 (47): 29351–4. PMID 7525582.
- Kouklis PD, Hutton E, Fuchs E (1994). "Making a connection: direct binding between keratin intermediate filaments and desmosomal proteins.". J. Cell Biol. 127 (4): 1049–60. PMID 7525601.
- Steinert PM, Marekov LN (1997). "Direct evidence that involucrin is a major early isopeptide cross-linked component of the keratinocyte cornified cell envelope.". J. Biol. Chem. 272 (3): 2021–30. PMID 8999895.
- Meng JJ, Bornslaeger EA, Green KJ, et al. (1997). "Two-hybrid analysis reveals fundamental differences in direct interactions between desmoplakin and cell type-specific intermediate filaments.". J. Biol. Chem. 272 (34): 21495–503. PMID 9261168.
- Kowalczyk AP, Bornslaeger EA, Borgwardt JE, et al. (1997). "The amino-terminal domain of desmoplakin binds to plakoglobin and clusters desmosomal cadherin-plakoglobin complexes.". J. Cell Biol. 139 (3): 773–84. PMID 9348293.
- Olavesen MG, Bentley E, Mason RV, et al. (1998). "Fine mapping of 39 ESTs on human chromosome 6p23-p25.". Genomics 46 (2): 303–6. doi:. PMID 9417921.
- Smith EA, Fuchs E (1998). "Defining the interactions between intermediate filaments and desmosomes.". J. Cell Biol. 141 (5): 1229–41. PMID 9606214.
- Marekov LN, Steinert PM (1998). "Ceramides are bound to structural proteins of the human foreskin epidermal cornified cell envelope.". J. Biol. Chem. 273 (28): 17763–70. PMID 9651377.
- Kowalczyk AP, Navarro P, Dejana E, et al. (1998). "VE-cadherin and desmoplakin are assembled into dermal microvascular endothelial intercellular junctions: a pivotal role for plakoglobin in the recruitment of desmoplakin to intercellular junctions.". J. Cell. Sci. 111 ( Pt 20): 3045–57. PMID 9739078.
- Suzuki M, Okuyama S, Okamoto S, et al. (1998). "A novel E2F binding protein with Myc-type HLH motif stimulates E2F-dependent transcription by forming a heterodimer.". Oncogene 17 (7): 853–65. doi:. PMID 9780002.
- Armstrong DK, McKenna KE, Purkis PE, et al. (1999). "Haploinsufficiency of desmoplakin causes a striate subtype of palmoplantar keratoderma.". Hum. Mol. Genet. 8 (1): 143–8. PMID 9887343.
- Whittock NV, Ashton GH, Dopping-Hepenstal PJ, et al. (2000). "Striate palmoplantar keratoderma resulting from desmoplakin haploinsufficiency.". J. Invest. Dermatol. 113 (6): 940–6. doi:. PMID 10594734.
- Dias Neto E, Correa RG, Verjovski-Almeida S, et al. (2000). "Shotgun sequencing of the human transcriptome with ORF expressed sequence tags.". Proc. Natl. Acad. Sci. U.S.A. 97 (7): 3491–6. PMID 10737800.
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