HUMAN:ALEX

Species (Taxon ID)	Homo sapiens (Human). (9606)
Gene Name(s)	GNAS (ECO:0000312 with HGNC:HGNC:4392) (synonyms: GNAS1 (ECO:0000312 with HGNC:HGNC:4392))
Protein Name(s)	Protein ALEX Alternative gene product encoded by XL-exon
External Links
UniProt	P84996
EMBL	AL132655
RefSeq	NP_001070958.1
UniGene	Hs.125898
ProteinModelPortal	P84996
BioGrid	109040
IntAct	P84996
DMDM	116242967
PaxDb	P84996
PRIDE	P84996
DNASU	2778
Ensembl	ENST00000306120
GeneID	2778
KEGG	hsa:2778
CTD	2778
GeneCards	GC20P057414
HGNC	HGNC:4392
HPA	CAB010337
MIM	114500 139320 219080 603233
neXtProt	NX_P84996
PharmGKB	PA175
eggNOG	NOG325092
HOGENOM	HOG000293422
KO	K04632
OrthoDB	EOG7M3J09
ChiTaRS	GNAS
GenomeRNAi	2778
NextBio	10928
Proteomes	UP000005640
Bgee	P84996
CleanEx	HS_GNAS
ExpressionAtlas	P84996
Genevestigator	P84996
GO	GO:0005829 GO:0016020 GO:0005886 GO:0001726 GO:0007189 GO:0060348 GO:0050890 GO:0048589 GO:0060789 GO:0070527

Annotations

Qualifier	GO ID	GO term name	Reference	ECO ID	ECO term name	with/from	Aspect	Extension	Notes	Status
	GO:0009966	regulation of signal transduction	PMID:12719376	ECO:0000315			P		Figure 5A demonstrates the relationship between ALEX and XLalphas for the wild-type and mutant phenotype.	complete CACAO 1974
involved_in	GO:0120162	positive regulation of cold-induced thermogenesis		ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:Q6R0H7	P		Seeded From UniProt	complete
involved_in	GO:0009966	regulation of signal transduction	PMID:12719376	ECO:0000315	mutant phenotype evidence used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:0070527	platelet aggregation	PMID:12719376	ECO:0000315	mutant phenotype evidence used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:0060789	hair follicle placode formation	PMID:12719376	ECO:0000315	mutant phenotype evidence used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:0060348	bone development	PMID:12719376	ECO:0000315	mutant phenotype evidence used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:0050890	cognition	PMID:12719376	ECO:0000315	mutant phenotype evidence used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:0048589	developmental growth	PMID:12719376	ECO:0000315	mutant phenotype evidence used in manual assertion		P		Seeded From UniProt	complete
part_of	GO:0016020	membrane	PMID:12719376	ECO:0000314	direct assay evidence used in manual assertion		C	part_of:(CL:0000233)	Seeded From UniProt	complete
involved_in	GO:0007189	adenylate cyclase-activating G protein-coupled receptor signaling pathway	PMID:12719376	ECO:0000315	mutant phenotype evidence used in manual assertion		P	occurs_in:(CL:0000233)|occurs_in:(CL:0000057)	Seeded From UniProt	complete
part_of	GO:0005829	cytosol	PMID:12719376	ECO:0000314	direct assay evidence used in manual assertion		C	part_of:(CL:0000233)	Seeded From UniProt	complete
part_of	GO:0016020	membrane	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0472	C		Seeded From UniProt	complete
part_of	GO:0042995	cell projection	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0966	C		Seeded From UniProt	complete
part_of	GO:0005886	plasma membrane	GO_REF:0000037 GO_REF:0000039	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-1003 UniProtKB-SubCell:SL-0039	C		Seeded From UniProt	complete
part_of	GO:0001726	ruffle	GO_REF:0000039	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-SubCell:SL-0300	C		Seeded From UniProt	complete
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References

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