DESP_HUMAN
Source:
PM23856902
PM22954596
Marked as 'Non-membrane protein'
Confidence:
medium (present in either hRBCD or BSc_CH or PM22954596)
Search PubMed for
(RBC AND this entry)
Gene names:
DSP
Protein names and data:
DESP_HUMAN
, Desmoplakin; DP
, 250/210 kDa paraneoplastic pemphigus antigen
Lenght: 2871 a.a.
Mass: 331774 Da
fasta formatted sequence
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.
Disease:
( OMIM:
125647
605676
607450
607655
609638
612908
)
Keratoderma, palmoplantar, striate 2 (SPPK2) [MIM:612908]: A dermatological disorder characterized by thickening of the skin on the palms (linear pattern) and the soles (island-like pattern) and flexor aspect of the fingers. Abnormalities of the nails, the teeth and the hair are rarely present. Note=The disease is caused by mutations affecting the gene represented in this entry. Cardiomyopathy, dilated, with woolly hair and keratoderma (DCWHK) [MIM:605676]: An autosomal recessive cardiocutaneous syndrome characterized by a generalized striate keratoderma particularly affecting the palmoplantar epidermis, woolly hair, and dilated left ventricular cardiomyopathy. Note=The disease is caused by mutations affecting the gene represented in this entry. Arrhythmogenic right ventricular dysplasia, familial, 8 (ARVD8) [MIM:607450]: A congenital heart disease characterized by infiltration of adipose and fibrous tissue into the right ventricle and loss of myocardial cells, resulting in ventricular and supraventricular arrhythmias. Note=The disease is caused by mutations affecting the gene represented in this entry. Skin fragility-woolly hair syndrome (SFWHS) [MIM:607655]: An autosomal recessive genodermatosis characterized by skin fragility with blistering, focal and diffuse palmoplantar keratoderma, hyperkeratotic plaques on the trunk and limbs, and woolly hair with varying degrees of alopecia. Note=The disease is caused by mutations affecting the gene represented in this entry. Epidermolysis bullosa, lethal acantholytic (EBLA) [MIM:609638]: A form of epidermolysis bullosa characterized by severe fragility of skin and mucous membranes. The phenotype is lethal in the neonatal period because of immense transcutaneous fluid loss. Typical features include universal alopecia, neonatal teeth, and nail loss. Histopathology of the skin shows suprabasal clefting and acantholysis throughout the spinous layer, mimicking pemphigus. Note=The disease is caused by mutations affecting the gene represented in this entry.
Cellular location:
Cell junction, desmosome. Cytoplasm, cytoskeleton. 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.
Genetic variants
287 - 287
N -> K (in SFWHS). VAR_015569
299 - 299
S -> R (in ARVD8; dbSNP:rs121912992). VAR_015402
121912992
305 - 305
I -> F (in dbSNP:rs17604693). VAR_033862
17604693
445 - 445
I -> V (in ARVD8). VAR_065693
1255 - 1255
R -> K (in ARVD8). VAR_023814
1505 - 1505
A -> V. VAR_065694
1512 - 1512
Y -> C (in dbSNP:rs2076299). VAR_020468
2076299
1526 - 1526
N -> K (in dbSNP:rs28763966). VAR_065695
28763966
1537 - 1537
R -> C (in dbSNP:rs28763967). VAR_065696
28763967
1738 - 1738
R -> Q (in dbSNP:rs6929069). VAR_023815
6929069
1775 - 1775
R -> I (in ARVD8; dbSNP:rs34738426). VAR_023816
34738426
1833 - 1833
E -> V (in dbSNP:rs78652302). VAR_065697
78652302
2366 - 2366
R -> C (in SFWHS; dbSNP:rs28931610). VAR_015570
28931610
2375 - 2375
G -> R (in a case of recessive arrhythmogenic right ventricular cardiomyopathy with skin abnormalities and woolly hair). VAR_018158
Database cross-references
UniProt:
P15924
Ensembl:
ENST00000379802
Ensembl:
ENST00000418664
MIM:
125647
MIM:
605676
MIM:
607450
MIM:
607655
MIM:
609638
MIM:
612908
neXtProt:
NX_P15924
Antibodypedia:
P15924
(may not find the protein thus also not any antibody)
Local full text data:
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