GUCY1A1 (guanylate cyclase 1 soluble subunit alpha 1)

2018-02-01 Affiliation

Identity

HGNC

GUCY1A1

LOCATION

4q32.1

LOCUSID

2982

ALIAS

GC-S-alpha-1,GC-SA3,GCS-alpha-3,GUC1A3,GUCA3,GUCSA3,GUCY1A3,MYMY6

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

NCBI: 2982
MIM: 139396
HGNC: 4685
Ensembl: ENSG00000164116

Variants:

dbSNP: 2982
ClinVar: 2982
TCGA: ENSG00000164116
COSMIC: GUCY1A1

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000164116	ENST00000296518	Q02108
ENSG00000164116	ENST00000393832	J3KPQ8
ENSG00000164116	ENST00000443668	J3KQW2
ENSG00000164116	ENST00000455639	Q02108
ENSG00000164116	ENST00000506455	Q02108
ENSG00000164116	ENST00000509901	D6RF78
ENSG00000164116	ENST00000511108	Q02108
ENSG00000164116	ENST00000511507	Q02108
ENSG00000164116	ENST00000513574	Q02108
ENSG00000164116	ENST00000515201	Q6PJR4
ENSG00000164116	ENST00000621234	Q6PJR4

Pathways

Pathway	Source	External ID
Purine metabolism	KEGG	ko00230
Gap junction	KEGG	ko04540
Long-term depression	KEGG	ko04730
Purine metabolism	KEGG	hsa00230
Gap junction	KEGG	hsa04540
Long-term depression	KEGG	hsa04730
Vascular smooth muscle contraction	KEGG	hsa04270
Vascular smooth muscle contraction	KEGG	ko04270
Salivary secretion	KEGG	ko04970
Salivary secretion	KEGG	hsa04970
Circadian entrainment	KEGG	hsa04713
Circadian entrainment	KEGG	ko04713
Platelet activation	KEGG	hsa04611
Oxytocin signaling pathway	KEGG	hsa04921
Oxytocin signaling pathway	KEGG	ko04921
cGMP-PKG signaling pathway	KEGG	hsa04022
cGMP-PKG signaling pathway	KEGG	ko04022
cGMP signaling	KEGG	hsa_M00694
cGMP signaling	KEGG	M00694
Renin secretion	KEGG	hsa04924
Renin secretion	KEGG	ko04924
Hemostasis	REACTOME	R-HSA-109582
Platelet homeostasis	REACTOME	R-HSA-418346
Nitric oxide stimulates guanylate cyclase	REACTOME	R-HSA-392154

Protein levels (Protein atlas)

Not detected

Low

Medium

High

References

Pubmed ID	Year	Title	Citations
36941667	2023	Biallelic variants in NOS3 and GUCY1A3, the two major genes of the nitric oxide pathway, cause moyamoya cerebral angiopathy.	1
36941667	2023	Biallelic variants in NOS3 and GUCY1A3, the two major genes of the nitric oxide pathway, cause moyamoya cerebral angiopathy.	1
33430449	2021	Inflammation in the Human Periodontium Induces Downregulation of the α(1)- and β(1)-Subunits of the sGC in Cementoclasts.	2
33571505	2021	Higher susceptibility to heme oxidation and lower protein stability of the rare α(1)C517Yβ(1) sGC variant associated with moyamoya syndrome.	6
34535643	2021	Activation mechanism of human soluble guanylate cyclase by stimulators and activators.	20
33430449	2021	Inflammation in the Human Periodontium Induces Downregulation of the α(1)- and β(1)-Subunits of the sGC in Cementoclasts.	2
33571505	2021	Higher susceptibility to heme oxidation and lower protein stability of the rare α(1)C517Yβ(1) sGC variant associated with moyamoya syndrome.	6
34535643	2021	Activation mechanism of human soluble guanylate cyclase by stimulators and activators.	20
30597209	2019	Differential expression of alternative transcripts of soluble guanylyl cyclase, GYCY1a3 and GUCY1b3 genes, in the malignant and benign breast tumors.	5
30768153	2019	Association of the coronary artery disease risk gene GUCY1A3 with ischaemic events after coronary intervention.	6
31228190	2019	Genetic variation at the coronary artery disease risk locus GUCY1A3 modifies cardiovascular disease prevention effects of aspirin.	12
31616026	2019	Soluble guanylyl cyclase α1 subunit is a key mediator of proliferation, survival, and migration in ECC-1 and HeLa cell lines.	5
31645439	2019	Synergistic mutations in soluble guanylyl cyclase (sGC) reveal a key role for interfacial regions in the sGC activation mechanism.	6
31883534	2019	Associations between GUCY1A3 genetic polymorphisms and large artery atherosclerotic stroke risk in Chinese Han population: a case-control study.	2
30597209	2019	Differential expression of alternative transcripts of soluble guanylyl cyclase, GYCY1a3 and GUCY1b3 genes, in the malignant and benign breast tumors.	5

Citation

Dessen P

GUCY1A1 (guanylate cyclase 1 soluble subunit alpha 1)

Atlas Genet Cytogenet Oncol Haematol. 2018-02-01

Online version: http://atlasgeneticsoncology.org/gene/57292/js/case-report-explorer/