| Gene Symbol |
DSP
|
| Entrez Gene |
1832
|
| Alt Symbol |
DCWHKTA, DP, DPI, DPII
|
| Species |
Human
|
| Gene Type |
protein-coding
|
| Description |
desmoplakin
|
| Other Description |
250/210 kDa paraneoplastic pemphigus antigen|desmoplakin I|desmoplakin II
|
| Swissprots |
D7RX09 P15924 Q9UHN4 O75993 Q14189 B2RTT2
|
| Accessions |
CAP07480 CAP07499 CAP11448 CAP11467 CAR97062 CAR97081 CAT82278 CAT82313 EAW55215 P15924 AB209992 BAE06074 AB621818 BAK64154 AF139065 AAF19785 AI304615 AK130229 BAC85309 AK296756 BAG59338 AK301676 BAG63149 AK304182 BAG65062 AL713599 AL713610 AW890985 BC140802 AAI40803 BC144587 CN282963 HM151899 ADI58529 J05211 AAA35766 M77830 AAA85135 XM_011514323 XP_011512625 NM_001008844 NP_001008844 NM_004415 NP_004406
|
| Function |
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.
|
| Subcellular Location |
Cell junction, desmosome {ECO:0000269|PubMed:12802069}. Cytoplasm, cytoskeleton {ECO:0000269|PubMed:12802069}. Note=Innermost portion of the desmosomal plaque. Colocalizes with epidermal KRT5-KRT14 and simple KRT8-KRT18 keratins and VIM intermediate filaments network.
|
| Tissue Specificity |
Isoform DPI is apparently an obligate constituent of all desmosomes. Isoform DPII resides predominantly in tissues and cells of stratified origin.
|
| Top Pathways |
Arrhythmogenic right ventricular cardiomyopathy (ARVC)
|