Protein family
The protein has not catalytic activity
Protein sequence
Protein function
Catalytic activity
| PDB | Resolution (Å) | PDB name |
|---|---|---|
| 1XM9 | 2.8 | Structure of the armadillo repeat domain of plakophilin 1 |
| GO ontology
|
GO term | GO description |
|---|---|---|
| Biological Process | GO:0007155 | cell adhesion |
| Biological Process | GO:0098609 | cell-cell adhesion |
| Biological Process | GO:0007043 | cell-cell junction assembly |
| Biological Process | GO:0045110 | intermediate filament bundle assembly |
| Biological Process | GO:1902373 | negative regulation of mRNA catabolic process |
| Biological Process | GO:0010628 | positive regulation of gene expression |
| Biological Process | GO:0007165 | signal transduction |
| Molecular Function | GO:0045296 | cadherin binding |
| Molecular Function | GO:0019215 | intermediate filament binding |
| Molecular Function | GO:0005521 | lamin binding |
| Molecular Function | GO:0030280 | structural constituent of skin epidermis |
| Cellular Component | GO:0005912 | adherens junction |
| Cellular Component | GO:0001533 | cornified envelope |
| Cellular Component | GO:0005737 | cytoplasm |
| Cellular Component | GO:0030057 | desmosome |
| Cellular Component | GO:0101003 | ficolin-1-rich granule membrane |
| Cellular Component | GO:0005882 | intermediate filament |
| Cellular Component | GO:1990124 | messenger ribonucleoprotein complex |
| Cellular Component | GO:0005654 | nucleoplasm |
| Cellular Component | GO:0005634 | nucleus |
| Cellular Component | GO:0005886 | plasma membrane |
| Reactome
|
Reactome Name | Node type
|
Reactome Root | Reactome Root Name |
|---|---|---|---|---|
| R-HSA-351906 | Apoptotic cleavage of cell adhesion proteins | Leaf | R-HSA-5357801 | Programmed Cell Death |
| R-HSA-6798695 | Neutrophil degranulation | Leaf | R-HSA-168256 | Immune System |
| R-HSA-6805567 | Keratinization | Internal node | R-HSA-1266738 | Developmental Biology |
| R-HSA-6809371 | Formation of the cornified envelope | Leaf | R-HSA-1266738 | Developmental Biology |
| Location
|
ECO term
|
Pubmed |
|---|---|---|
| Cell junction, desmosome | ECO:0000269 | PubMed:9369526 |
| Nucleus | ECO:0000269 | PubMed:11790773 |
| Nucleus | ECO:0000269 | PubMed:9369526 |
| HPO ID
|
HPO name |
|---|---|
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000164 | Abnormality of the dentition |
| HP:0000561 | Absent eyelashes |
| HP:0000670 | Carious teeth |
| HP:0000966 | Hypohidrosis |
| HP:0000968 | Ectodermal dysplasia |
| HP:0000970 | Anhidrosis |
| HP:0000972 | Palmoplantar hyperkeratosis |
| HP:0000982 | Palmoplantar keratoderma |
| HP:0000989 | Pruritus |
| HP:0001030 | Fragile skin |
| HP:0001508 | Failure to thrive |
| HP:0001581 | Recurrent skin infections |
| HP:0002028 | Chronic diarrhea |
| HP:0002223 | Absent eyebrow |
| HP:0002289 | Alopecia universalis |
| HP:0002293 | Alopecia of scalp |
| HP:0002355 | Difficulty walking |
| HP:0003577 | Congenital onset |
| HP:0004322 | Short stature |
| HP:0005218 | Anoperineal fistula |
| HP:0006482 | Abnormality of dental morphology |
| HP:0006532 | Recurrent pneumonia |
| HP:0007446 | Palmoplantar blistering |
| HP:0007502 | Follicular hyperkeratosis |
| HP:0008066 | Abnormal blistering of the skin |
| HP:0008070 | Sparse hair |
| HP:0008391 | Dystrophic fingernails |
| HP:0008404 | Nail dystrophy |
| HP:0012227 | Urethral stricture |
| HP:0030809 | Abnormal tongue morphology |
| HP:0040181 | Chapped lip |
| HP:0040189 | Scaling skin |
| HP:0100699 | Scarring |
| HP:0100806 | Sepsis |
| HP:0100825 | Cheilitis |
| Disease name | MONDO ID
|
ICD10
|
ICD10 chapter
|
OMIM
|
Orphanet
|
|---|---|---|---|---|---|
| epidermolysis bullosa simplex due to plakophilin deficiency | MONDO:0011472 | Q81 | chapter17, Congenital malformations, deformations and chromosomal abnormalities | OMIM:604536 | Orphanet:158668 |