Statements (21)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:alternativeName |
gptkb:SPTA
SPH1 spectrin alpha chain, erythrocytic 1 |
| gptkbp:associatedWith |
gptkb:hereditary_elliptocytosis
gptkb:hereditary_spherocytosis |
| gptkbp:encodes |
spectrin alpha chain, erythrocytic 1
|
| gptkbp:Entrez_Gene_ID |
6708
ENSG00000163517 |
| gptkbp:expressedIn |
erythrocytes
|
| gptkbp:function |
structural component of erythrocyte membrane
|
| gptkbp:HGNC_ID |
11212
|
| https://www.w3.org/2000/01/rdf-schema#label |
SPTA1
|
| gptkbp:locatedOnChromosome |
chromosome 1
|
| gptkbp:mutationAssociatedWith |
gptkb:anemia
|
| gptkbp:OMIM |
182860
|
| gptkbp:organism |
gptkb:Homo_sapiens
|
| gptkbp:product |
alpha-spectrin
|
| gptkbp:UniProtID |
P02549
|
| gptkbp:bfsParent |
gptkb:Spectrin
|
| gptkbp:bfsLayer |
7
|