Statements (26)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:alternativeSplicing |
yes
|
| gptkbp:associatedWith |
macrothrombocytopenia
|
| gptkbp:component |
gptkb:cell_junction
gptkb:cytoplasm |
| gptkbp:encodes |
alpha-actinin-1
|
| gptkbp:Entrez_Gene_ID |
gptkb:ENSG00000143632
102575 |
| gptkbp:expressedIn |
gptkb:skeletal_muscle
non-muscle cells |
| gptkbp:function |
gptkb:actin-binding_protein
cytoskeletal structural protein actin filament binding |
| gptkbp:gene |
gptkb:ACTN1
|
| gptkbp:GOProcess |
cytoskeleton organization
|
| gptkbp:HGNC_ID |
HGNC:164
|
| gptkbp:locatedOnChromosome |
14
14q24.1 |
| gptkbp:OMIM |
102575
|
| gptkbp:organism |
gptkb:Homo_sapiens
|
| gptkbp:proteinFamily |
alpha-actinin family
|
| gptkbp:RefSeq |
NM_001130004
|
| gptkbp:UniProtID |
P12814
|
| gptkbp:bfsParent |
gptkb:alpha-actinin
|
| gptkbp:bfsLayer |
9
|
| http://www.w3.org/2000/01/rdf-schema#label |
102575 (ACTN1)
|