|
gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:alias
|
F-actin cross-linking protein alpha-actinin-1
alpha-actinin cytoskeletal isoform
|
|
gptkbp:alternativeSplicing
|
yes
|
|
gptkbp:associatedWith
|
macrothrombocytopenia
congenital macrothrombocytopenia
|
|
gptkbp:discoveredBy
|
1986
|
|
gptkbp:encodes
|
alpha-actinin-1
|
|
gptkbp:Entrez_Gene_ID
|
gptkb:ENSG00000143632
87
|
|
gptkbp:expressedIn
|
gptkb:skeletal_muscle
non-muscle cells
|
|
gptkbp:function
|
gptkb:actin-binding_protein
cell adhesion
cell motility
cytoskeletal organization
|
|
gptkbp:geneType
|
protein-coding
|
|
gptkbp:hasTranscriptVariant
|
multiple
|
|
gptkbp:HGNC_ID
|
164
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
ACTN1
|
|
gptkbp:interactsWith
|
gptkb:actin
gptkb:integrins
gptkb:vinculin
gptkb:titin
zyxin
|
|
gptkbp:locatedOnChromosome
|
19q13.2
|
|
gptkbp:molecularWeight
|
103 kDa
|
|
gptkbp:numberOfExons
|
21
|
|
gptkbp:OMIM
|
102575
|
|
gptkbp:organism
|
gptkb:Homo_sapiens
|
|
gptkbp:orthologInMouse
|
Actn1
|
|
gptkbp:proteinFamily
|
alpha-actinin family
|
|
gptkbp:subcellularLocation
|
gptkb:cytoplasm
cell junctions
focal adhesions
|
|
gptkbp:UniProtID
|
P12814
|
|
gptkbp:bfsParent
|
gptkb:alpha-actinin
|
|
gptkbp:bfsLayer
|
8
|