RBCC Red Blood Cell Collection

PEPL_HUMAN

Source: PM19886704
PM23856902
Marked as 'Membrane associated protein'
Confidence: low (only semi-automatic identification from reviews) Search PubMed for
(RBC AND this entry)
Gene names: PPL , KIAA0568
Protein names and data: PEPL_HUMAN , Periplakin , 190 kDa paraneoplastic pemphigus antigen; 195 kDa cornified envelope precursor protein Lenght: 1756 a.a.
Mass: 204747 Da
fasta formatted sequence
Function: Component of the cornified envelope of keratinocytes. May link the cornified envelope to desmosomes and intermediate filaments. May act as a localization signal in PKB/AKT-mediated signaling.
Cellular location: Cell junction, desmosome. Cytoplasm, cytoskeleton. Cell membrane (By similarity). Nucleus (By similarity). Mitochondrion (By similarity). Note=Associated with desmosomes and intermediate filaments.
Tissue specificity: Expressed in stratified squamous epithelia and in some other epithelia.

Genetic variants

520 - 520 R -> Q (in dbSNP:rs8063727). VAR_055125 8063727
572 - 572 A -> S (in dbSNP:rs35300633). VAR_055126 35300633
589 - 589 R -> Q (in dbSNP:rs1049205). VAR_055127 1049205
631 - 631 H -> Y (in dbSNP:rs34936263). VAR_055128 34936263
819 - 819 R -> S (in dbSNP:rs2734742). VAR_055129 2734742
891 - 891 E -> Q (in dbSNP:rs35869286). VAR_055130 35869286
1007 - 1007 A -> V (in dbSNP:rs2075639). VAR_055131 2075639
1199 - 1199 E -> Q (in dbSNP:rs12446946). VAR_055132 12446946
1573 - 1573 Q -> E (in dbSNP:rs2037912). VAR_055133 2037912
1754 - 1754 G -> R (in dbSNP:rs35865314). VAR_055134 35865314

Database cross-references

UniProt: O60437
Ensembl: ENST00000345988
MIM: 602871
neXtProt: NX_O60437
Antibodypedia: O60437 (may not find the protein thus also not any antibody)
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