PKP1_HUMAN
Source:
PM19886704
PM23856902
Marked as 'Non-membrane protein'
Confidence:
low (only semi-automatic identification from reviews)
Search PubMed for
(RBC AND this entry)
Gene names:
PKP1
Protein names and data:
PKP1_HUMAN
, Plakophilin-1
, Band 6 protein; B6P
Lenght: 747 a.a.
Mass: 82861 Da
fasta formatted sequence
Function:
Seems to play a role in junctional plaques. Contributes to epidermal morphogenesis.
Disease:
( OMIM:
601975
604536
)
Ectodermal dysplasia-skin fragility syndrome (EDSFS) [MIM:604536]: A form of ectodermal dysplasia, a heterogeneous group of disorders due to abnormal development of two or more ectodermal structures. Characterized by features of both cutaneous fragility and congenital ectodermal dysplasia affecting skin, hair and nails. There is no evidence of significant abnormalities in other epithelia or tissues. Desmosomes in the skin are small and poorly formed with widening of keratinocyte intercellular spaces and perturbed desmosome/keratin intermediate filament interactions. Note=The disease is caused by mutations affecting the gene represented in this entry.
Cellular location:
Isoform 1: Nucleus. Cell junction, desmosome. Nucleus.
Tissue specificity:
Isoform 2 is widely expressed. Isoform 1 is expressed in stratified squamous, complex, glandular duct and bladder epithelia.
Genetic variants
116 - 116
R -> H (in dbSNP:rs34626929). VAR_033526
34626929
161 - 161
C -> Y (in dbSNP:rs34704938). VAR_033527
34704938
196 - 196
I -> V (in dbSNP:rs35507614). VAR_033528
35507614
415 - 415
G -> D (in dbSNP:rs1626370). VAR_053811
1626370
463 - 463
A -> V (in dbSNP:rs10920171). VAR_062171
10920171
Database cross-references
UniProt:
Q13835
Ensembl:
ENST00000263946
Ensembl:
ENST00000352845
Ensembl:
ENST00000367324
MIM:
601975
MIM:
604536
neXtProt:
NX_Q13835
Antibodypedia:
Q13835
(may not find the protein thus also not any antibody)
Local full text data:
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