Desmoplakin
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| Location (UCSC) | Chr 6: 7.54 – 7.59 Mb | Chr 13: 38.34 – 38.38 Mb | |||||||
| PubMed search | [3] | [4] | |||||||
| View/Edit Human | View/Edit Mouse |
Desmoplakin is a
Carvajal syndrome and paraneoplastic pemphigus
.
Structure
Desmoplakin exists as two predominant isoforms; the first, known as "DPII", has molecular weight 260.0 kDa (2272 amino acids) and the second, known as "DPI", has molecular weight 332.0 kDa (2871 amino acids).homodimerization.[21]
Function
Desmosomes are intercellular junctions that tightly link adjacent cells. Desmoplakin is an obligate component of functional desmosomes that anchors intermediate filaments to desmosomal plaques. In
arrhythmogenic right ventricular cardiomyopathy, where mutations in specific binding domains alter desmoplakin binding to plakoglobin or desmin and result in cell death and dysfunction.[26]
Clinical significance
Mutations in this gene are the cause of several
Carvajal syndrome results from an autosomal recessive mutation of a frameshift (7901delG) in DSP that results in a combination of above conditions, including dilated cardiomyopathy, keratoderma and woolly hair.[38] Patients with Carvajal syndrome often suffer from heart failure in teenage years. A case of compound heterozygosity for two DSP nonsense mutations resulting in lethal acantholytic epidermolysis bullosa has been reported.[39][40] Autoantibodies to DSP are a hallmark of the autoimmune disease paraneoplastic pemphigus.[41][42] Decreased desmoplakin expression has been found in patients with oropharyngeal cancer and breast cancer, which may alter cell-cell adhesion properties and propagate metastasis.[43][44]
Interactions
Desmoplakin has been shown to
interact
with:
See also
- List of target antigens in pemphigus
- List of conditions caused by problems with junctional proteins
References
- ^ a b c GRCh38: Ensembl release 89: ENSG00000096696 – Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000054889 – Ensembl, May 2017
- ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- PMID 1889810.
- ^ "Entrez Gene: DSP desmoplakin".
- PMID 8769422.
- PMID 36434384.
- S2CID 231641047.
- ^ "Protein sequence of human desmoplakin (Uniprot ID: P15924)". Cardiac Organellar Protein Atlas Knowledgabase (COPaKB). Archived from the original on 27 June 2015. Retrieved 26 June 2015.
- ^ "Protein sequence of human desmoplakin (Uniprot ID: P15924-2)". Cardiac Organellar Protein Atlas Knowledgebase (COPaKB). Archived from the original on 27 June 2015. Retrieved 26 June 2015.
- PMID 23911551.
- ^ PMID 1689290.
- ^ PMID 9606214.
- PMID 17161423.
- PMID 21536047.
- ^ PMID 21756917.
- S2CID 10611026.
- PMID 7693716.
- PMID 7525582.
- ^ PMID 17854763.
- PMID 6365927.
- PMID 6416832.
- PMID 9864371.
- ^ PMID 16917092.
- PMID 18382419.
- ^ PMID 11063735.
- PMID 9738775.
- PMID 12373648.
- PMID 12875771.
- ^ PMID 16467215.
- S2CID 7138963.
- PMID 36434384.
- S2CID 231641047.
- PMID 9887343.
- PMID 10594734.
- PMID 11841538.
- PMID 9738775.
- PMID 16175511.
- S2CID 36535041.
- PMID 2247105.
- PMID 1601988.
- PMID 19386346.
- PMID 15084247.
- ^ PMID 9261168.
- PMID 10852826.
- PMID 11790773.
- PMID 9739078.
- PMID 9348293.
Further reading
- Presland RB, Dale BA (2000). "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.
- Just M, Herbst H, Hummel M, Dürkop H, Tripier D, Stein H, Schuppan D (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.
- Green KJ, Parry DA, Steinert PM, Virata ML, Wagner RM, Angst BD, Nilles LA (1990). "Structure of the human desmoplakins. Implications for function in the desmosomal plaque". J. Biol. Chem. 265 (19): 11406–7. PMID 2391353.
- 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.
- Olavesen MG, Bentley E, Mason RV, Stephens RJ, Ragoussis J (1997). "Fine mapping of 39 ESTs on human chromosome 6p23-p25". Genomics. 46 (2): 303–6. PMID 9417921.
- 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.
- Suzuki M, Okuyama S, Okamoto S, Shirasuna K, Nakajima T, Hachiya T, Nojima H, Sekiya S, Oda K (1998). "A novel E2F binding protein with Myc-type HLH motif stimulates E2F-dependent transcription by forming a heterodimer". Oncogene. 17 (7): 853–65. S2CID 23588950.
- Dias Neto E, Correa RG, Verjovski-Almeida S, Briones MR, Nagai MA, da Silva W, Zago MA, Bordin S, Costa FF, Goldman GH, Carvalho AF, Matsukuma A, Baia GS, Simpson DH, Brunstein A, de Oliveira PS, Bucher P, Jongeneel CV, O'Hare MJ, Soares F, Brentani RR, Reis LF, de Souza SJ, Simpson AJ (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.
External links
- GeneReviews/NCBI/NIH/UW entry on Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy, Autosomal Dominant
- OMIM entries on Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy, Autosomal Dominant
- Desmoplakins at the U.S. National Library of Medicine Medical Subject Headings (MeSH)
- Overview of all the structural information available in the PDB for UniProt: P15924 (Desmoplakin) at the PDBe-KB.
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