|
gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:alias
|
gptkb:SB1.8
DXS423E
|
|
gptkbp:associatedWith
|
gptkb:Cornelia_de_Lange_syndrome
Epilepsy
|
|
gptkbp:biologicalProcess
|
meiosis
mitosis
cell cycle
DNA binding
ATPase activity
DNA double-strand break repair
|
|
gptkbp:cellularComponent
|
gptkb:nucleus
chromosomal band
|
|
gptkbp:encodes
|
gptkb:SMC1A_protein
|
|
gptkbp:Entrez_Gene_ID
|
8243
ENSG00000104067
|
|
gptkbp:expressedIn
|
various tissues
|
|
gptkbp:fullName
|
gptkb:Structural_Maintenance_of_Chromosomes_1A
|
|
gptkbp:function
|
DNA repair
chromosome segregation
cohesin complex component
sister chromatid cohesion
|
|
gptkbp:HGNC_ID
|
HGNC:11123
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
SMC1A
|
|
gptkbp:locatedOnChromosome
|
X
|
|
gptkbp:mutationAssociatedWith
|
intellectual disability
seizures
developmental delay
|
|
gptkbp:OMIM
|
300040
|
|
gptkbp:organism
|
gptkb:Homo_sapiens
|
|
gptkbp:orthologInMouse
|
gptkb:Smc1a
|
|
gptkbp:orthologInYeast
|
gptkb:SMC1
|
|
gptkbp:proteinFamily
|
gptkb:SMC_protein_family
|
|
gptkbp:UniProtID
|
Q14683
|
|
gptkbp:bfsParent
|
gptkb:APRIN
|
|
gptkbp:bfsLayer
|
5
|