GUCY1A1 (guanylate cyclase 1 soluble subunit alpha 1)

2018-02-01  

Identity

HGNC
LOCATION
4q32.1
LOCUSID
ALIAS
GC-S-alpha-1,GC-SA3,GCS-alpha-3,GUC1A3,GUCA3,GUCSA3,GUCY1A3,MYMY6

Other Information

Locus ID:

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

Variants:

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

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000164116ENST00000296518Q02108
ENSG00000164116ENST00000393832J3KPQ8
ENSG00000164116ENST00000443668J3KQW2
ENSG00000164116ENST00000455639Q02108
ENSG00000164116ENST00000506455Q02108
ENSG00000164116ENST00000509901D6RF78
ENSG00000164116ENST00000511108Q02108
ENSG00000164116ENST00000511507Q02108
ENSG00000164116ENST00000513574Q02108
ENSG00000164116ENST00000515201Q6PJR4
ENSG00000164116ENST00000621234Q6PJR4

Pathways

PathwaySourceExternal ID
Purine metabolismKEGGko00230
Gap junctionKEGGko04540
Long-term depressionKEGGko04730
Purine metabolismKEGGhsa00230
Gap junctionKEGGhsa04540
Long-term depressionKEGGhsa04730
Vascular smooth muscle contractionKEGGhsa04270
Vascular smooth muscle contractionKEGGko04270
Salivary secretionKEGGko04970
Salivary secretionKEGGhsa04970
Circadian entrainmentKEGGhsa04713
Circadian entrainmentKEGGko04713
Platelet activationKEGGhsa04611
Oxytocin signaling pathwayKEGGhsa04921
Oxytocin signaling pathwayKEGGko04921
cGMP-PKG signaling pathwayKEGGhsa04022
cGMP-PKG signaling pathwayKEGGko04022
cGMP signalingKEGGhsa_M00694
cGMP signalingKEGGM00694
Renin secretionKEGGhsa04924
Renin secretionKEGGko04924
HemostasisREACTOMER-HSA-109582
Platelet homeostasisREACTOMER-HSA-418346
Nitric oxide stimulates guanylate cyclaseREACTOMER-HSA-392154

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
369416672023Biallelic variants in NOS3 and GUCY1A3, the two major genes of the nitric oxide pathway, cause moyamoya cerebral angiopathy.1
369416672023Biallelic variants in NOS3 and GUCY1A3, the two major genes of the nitric oxide pathway, cause moyamoya cerebral angiopathy.1
334304492021Inflammation in the Human Periodontium Induces Downregulation of the α(1)- and β(1)-Subunits of the sGC in Cementoclasts.2
335715052021Higher susceptibility to heme oxidation and lower protein stability of the rare α(1)C517Yβ(1) sGC variant associated with moyamoya syndrome.6
345356432021Activation mechanism of human soluble guanylate cyclase by stimulators and activators.20
334304492021Inflammation in the Human Periodontium Induces Downregulation of the α(1)- and β(1)-Subunits of the sGC in Cementoclasts.2
335715052021Higher susceptibility to heme oxidation and lower protein stability of the rare α(1)C517Yβ(1) sGC variant associated with moyamoya syndrome.6
345356432021Activation mechanism of human soluble guanylate cyclase by stimulators and activators.20
305972092019Differential expression of alternative transcripts of soluble guanylyl cyclase, GYCY1a3 and GUCY1b3 genes, in the malignant and benign breast tumors.5
307681532019Association of the coronary artery disease risk gene GUCY1A3 with ischaemic events after coronary intervention.6
312281902019Genetic variation at the coronary artery disease risk locus GUCY1A3 modifies cardiovascular disease prevention effects of aspirin.12
316160262019Soluble guanylyl cyclase α1 subunit is a key mediator of proliferation, survival, and migration in ECC-1 and HeLa cell lines.5
316454392019Synergistic mutations in soluble guanylyl cyclase (sGC) reveal a key role for interfacial regions in the sGC activation mechanism.6
318835342019Associations between GUCY1A3 genetic polymorphisms and large artery atherosclerotic stroke risk in Chinese Han population: a case-control study.2
305972092019Differential 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/css/js/web-card-_common.js