GUCY1A1 (guanylate cyclase 1 soluble subunit alpha 1)

2018-02-01  

Identity

HGNC
GUCY1A1
LOCATION
4q32.1
LOCUSID
2982
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
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
185506122008Expression and function of soluble guanylate cyclase in pulmonary arterial hypertension.54
245817422014Loss of α1β1 soluble guanylate cyclase, the major nitric oxide receptor, leads to moyamoya and achalasia.29
247333952014Nitric oxide and heat shock protein 90 activate soluble guanylate cyclase by driving rapid change in its subunit interactions and heme content.21
289826902018Phenotypic Consequences of a Genetic Predisposition to Enhanced Nitric Oxide Signaling.16
152019572004Inhibition of angiogenesis in human glioma cell lines by antisense RNA from the soluble guanylate cyclase genes, GUCY1A3 and GUCY1B3.14
284873912017Functional Characterization of the <i>GUCY1A3</i> Coronary Artery Disease Risk Locus.14
290248962018Identification of a soluble guanylate cyclase in RBCs: preserved activity in patients with coronary artery disease.13
221743782012Soluble guanylyl cyclase α1 and p53 cytoplasmic sequestration and down-regulation in prostate cancer.12
267772562016Disrupted nitric oxide signaling due to GUCY1A3 mutations increases risk for moyamoya disease, achalasia and hypertension.12
214147992011Nitric oxide affects IL-6 expression in human peripheral blood mononuclear cells involving cGMP-dependent modulation of NF-κB activity.10

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/gucy1a1