Structural Maintenance of Chromosomes 1A

URI: https://gptkb.org/entity/Structural_Maintenance_of_Chromosomes_1A
GPTKB entity
Statements (33)
Predicate Object
gptkbp:instanceOf gptkb:protein
gptkb:gene
gptkbp:alternativeName gptkb:SMC1A
gptkb:SMC1_alpha
gptkb:Structural_maintenance_of_chromosomes_protein_1A
gptkbp:associatedWith gptkb:Cornelia_de_Lange_syndrome
cohesinopathies
gptkbp:encodedBy gptkb:SMC1A_gene
gptkbp:Entrez_Gene_ID 8243
ENSG00000104067
gptkbp:expressedIn various tissues
gptkbp:function DNA repair
chromosome segregation
component of cohesin complex
sister chromatid cohesion
gptkbp:gene gptkb:SMC1A
gptkbp:HGNC_ID HGNC:11123
https://www.w3.org/2000/01/rdf-schema#label Structural Maintenance of Chromosomes 1A
gptkbp:interactsWith gptkb:RAD21
gptkb:SMC3
gptkb:STAG2
gptkbp:locatedOnChromosome gptkb:X_chromosome
gptkb:Xp11.22
gptkbp:molecularWeight 143 kDa
gptkbp:mutationAssociatedWith intellectual disability
developmental disorders
gptkbp:OMIM 300040
gptkbp:orthologInMouse gptkb:Smc1a
gptkbp:subcellularLocation gptkb:nucleus
gptkbp:subunit gptkb:cohesin_complex
gptkbp:UniProtID Q14683
gptkbp:bfsParent gptkb:SMC1A
gptkbp:bfsLayer 6