Entity Details
| Primary name |
ES8L3_HUMAN |
| Entity type |
UniProt |
| Source |
Source Link |
Details
| Accession | Q8TE67 |
| EntryName | ES8L3_HUMAN |
| FullName | Epidermal growth factor receptor kinase substrate 8-like protein 3 |
| TaxID | 9606 |
| Evidence | evidence at protein level |
| Length | 593 |
| SequenceStatus | complete |
| DateCreated | 2006-05-30 |
| DateModified | 2021-06-02 |
Subcellular Location
Show/Hide Table
| Subcellular Location |
| Cytoplasm |
Domains
Show/Hide Table
| Domain | Name | Category | Type |
| IPR001452 | SH3 domain | Domain | Domain |
| IPR011993 | PH-like domain superfamily | Family | Homologous superfamily |
| IPR013625 | Tensin/EPS8 phosphotyrosine-binding domain | Domain | Domain |
| IPR013761 | Sterile alpha motif/pointed domain superfamily | Family | Homologous superfamily |
| IPR033928 | Epidermal growth factor receptor kinase substrate, phosphotyrosine-binding domain | Domain | Domain |
| IPR035462 | Eps8, SH3 domain | Domain | Domain |
| IPR036028 | SH3-like domain superfamily | Family | Homologous superfamily |
| IPR039801 | Epidermal growth factor receptor kinase substrate 8-like | Family | Family |
| IPR041418 | SAM domain | Domain | Domain |
Diseases
Show/Hide Table
| Disease ID | Source | Name | Description |
| 612841 | OMIM | Hypotrichosis 5 (HYPT5) | A form of hypotrichosis, a condition characterized by the presence of less than the normal amount of hair and abnormal hair follicles and shafts, which are thin and atrophic. The extent of scalp and body hair involvement can be very variable, within as well as between families. HYPT5 is an autosomal dominant form characterized by little or no scalp hair at birth, wiry and irregular scalp hair in childhood, and sparse or no forehead and parietal hair at puberty. Eyebrows and eyelashes are thin, and pubic and axillary hair fails to develop. Scarring alopecia is modest, and vertex hair is normal. The disease may be caused by variants affecting the gene represented in this entry. |
Interactions
4 interactions