|
gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:alternativeName
|
gptkb:SB1.8
gptkb:SMC1_alpha
DXS423E
SMC1L1
|
|
gptkbp:associatedWith
|
gptkb:Cornelia_de_Lange_syndrome
Epilepsy
|
|
gptkbp:biologicalProcess
|
ATP binding
chromatin binding
DNA double-strand break repair
sister chromatid cohesion
mitotic cell cycle
meiotic cell cycle
|
|
gptkbp:discoveredIn
|
1997
|
|
gptkbp:encodes
|
gptkb:SMC1A_protein
|
|
gptkbp:Entrez_Gene_ID
|
8243
ENSG00000104067
|
|
gptkbp:expressedIn
|
various tissues
|
|
gptkbp:fullName
|
structural maintenance of chromosomes 1A
|
|
gptkbp:function
|
DNA repair
chromosome segregation
cohesin complex component
|
|
gptkbp:geneType
|
protein-coding
|
|
gptkbp:hasTranscriptVariant
|
multiple
|
|
gptkbp:HGNC_ID
|
HGNC:11123
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
SMC1A gene
|
|
gptkbp:inheritance
|
X-linked dominant
|
|
gptkbp:interactsWith
|
gptkb:NIPBL_protein
gptkb:RAD21_protein
gptkb:SMC3_protein
gptkb:STAG2_protein
|
|
gptkbp:locatedOnChromosome
|
gptkb:X_chromosome
gptkb:Xp11.22-p11.21
|
|
gptkbp:mutationAssociatedWith
|
intellectual disability
seizures
developmental delay
|
|
gptkbp:OMIM
|
300040
|
|
gptkbp:organism
|
gptkb:Homo_sapiens
|
|
gptkbp:orthologInMouse
|
gptkb:Smc1a
|
|
gptkbp:orthologInZebrafish
|
smc1a
|
|
gptkbp:proteinFamily
|
SMC family
|
|
gptkbp:referenceGenome
|
gptkb:GRCh38
|
|
gptkbp:UniProtID
|
Q14683
|
|
gptkbp:bfsParent
|
gptkb:SMC1A_protein
gptkb:Structural_Maintenance_of_Chromosomes_1A
|
|
gptkbp:bfsLayer
|
7
|