Biomarker: desmoplakin I

Histology type: endometrial carcinoma

Country: Japan

Region: Sapporo

Followed up time :

Conclusion: Reduction of desmoplakin I expression may play an important role in the invasiveness and metastatic activity of human endometrial carcinoma. They can therefore be used as differentiation markers for endometrial carcinoma.

Sample type : tissue

Sample method: immunofluorescence

Expression pattern : expression

Funtion Uniprot: Major high molecular weight protein of desmosomes. Involved in the organization of the desmosomal cadherin-plakoglobin complexes into discrete plasma membrane domains and in the anchoring of intermediate filaments to the desmosomes.

UniProt ID: P15924

UniProt Link: https://www.uniprot.org/uniprotkb/P15924/entry

Molecular function from UniProt:

Tissue specificity from UniProt: Expressed in oral mucosa (at protein level) (PubMed:30479852). Expressed in arrector pili muscle (at protein level) (PubMed:29034528). Isoform DPI Apparently an obligate constituent of all desmosomes. Isoform DPII Resides predominantly in tissues and cells of stratified origin.

Subcellular UniProt: #Cell junction #Cell membrane #Cytoplasm #Cytoskeleton #Membrane

Alternative name from UniProt:

Recommended name: Desmoplakin

Gene name from HGNC: DSP (DPI, DPII, KPPS2, PPKS2)

HPA class: Disease related genes Human disease related genes Plasma proteins

AlphaFold DB: P15924

AlphaFold Link: https://www.sasbdb.org/uniprot/P15924/

HPA link: https://www.proteinatlas.org/ENSG00000096696-DSP

Tissue specificity RNA from HPA: Tissue enhanced (esophagus, skin)

Tissue expression from HPA: Cytoplasmic and membranous expression most abundant in squamous epithelia and intercalated discs.

Single cell type specificity Cell type enhanced (Suprabasal keratinocytes, Squamous epithelial cells, Basal keratinocytes, Cardiomyocytes

Immune cell specificity: Immune cell enriched (naive B-cell)

Subcellular summary HPA Located in Cell Junctions

Cancer prognostic summary HPA Prognostic marker in renal cancer (favorable) and urothelial cancer (unfavorable)

Pathology link: https://www.proteinatlas.org/ENSG00000096696-DSP/pathology

Pathology endo: https://www.proteinatlas.org/ENSG00000096696-DSP/pathology/endometrial+cancer

Phenotype ID: 612908| 605676|607450| 607655| 609638|615821

Disease: Keratoderma, palmoplantar, striate 2 (SPPK2)|Cardiomyopathy, dilated, with woolly hair and keratoderma (DCWHK)| Arrhythmogenic right ventricular dysplasia, familial, 8 (ARVD8)| Skin fragility-woolly hair syndrome (SFWHS)|Epidermolysis bullosa, lethal acantholytic (EBLA)|Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis (DCWHKTA)

Note1: The disease is caused by variants affecting the gene represented in this entry |The disease is caused by variants affecting the gene represented in this entry| The disease is caused by variants affecting the gene represented in this entry| The disease is caused by variants affecting the gene represented in this entry|The disease is caused by variants affecting the gene represented in this entry| The disease is caused by variants affecting the gene represented in this entry

OMIM link1: https://www.omim.org/entry/612908 |https://www.omim.org/entry/605676| https://www.omim.org/entry/607450| https://www.omim.org/entry/607655|https://www.omim.org/entry/609638|https://www.omim.org/entry/615821

HGNC ID: HGNC:3052

HGNC link: https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3052