GNAS1

URI: https://gptkb.org/entity/GNAS1

GPTKB entity

Predicate	Object
gptkbp:instanceOf	gptkb:gene
gptkbp:alias	gptkb:Guanine_nucleotide-binding_protein,_alpha_stimulating_activity_polypeptide_1 gptkb:Guanine_nucleotide-binding_protein_G(s)_subunit_alpha_isoforms_short_and_long gptkb:GNAS
gptkbp:alternativeSplicing	yes
gptkbp:associatedWith	gptkb:McCune-Albright_syndrome gptkb:Albright_hereditary_osteodystrophy pseudohypoparathyroidism
gptkbp:encodes	gptkb:Guanine_nucleotide-binding_protein_G(s)_subunit_alpha
gptkbp:Entrez_Gene_ID	2778
gptkbp:expressedIn	multiple tissues
gptkbp:function	signal transduction
gptkbp:hasImprinting	yes
gptkbp:HGNC_ID	4392
https://www.w3.org/2000/01/rdf-schema#label	GNAS1
gptkbp:locatedOnChromosome	gptkb:chromosome_20q13.32
gptkbp:mutationAssociatedWith	hormone resistance
gptkbp:OMIM	139320
gptkbp:orthologInMouse	gptkb:Gnas
gptkbp:UniProtID	P63092
gptkbp:bfsParent	gptkb:Gnas gptkb:GNAS_gene gptkb:GNAS
gptkbp:bfsLayer	7