GUCY1A1

Chr 4

guanylate cyclase 1 soluble subunit alpha 1

Also known as: GC-S-alpha-1, GC-SA3, GCS-alpha-3, GUC1A3, GUCA3, GUCSA3, GUCY1A3, MYMY6

Soluble guanylate cyclases are heterodimeric proteins that catalyze the conversion of GTP to 3',5'-cyclic GMP and pyrophosphate. The protein encoded by this gene is an alpha subunit of this complex and it interacts with a beta subunit to form the guanylate cyclase enzyme, which is activated by nitric oxide. Several transcript variants encoding a few different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtMoyamoya disease 6 with or without achalasia
0
Active trials
6
Pubs (1 yr)
P/LP submissions
P/LP missense
0.84
LOEUF
Multiple*
Mechanism· predicted
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
0.84LOEUF
pLI 0.000
Z-score 2.25
OE 0.56 (0.380.84)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
0.68Z-score
OE missense 0.90 (0.820.99)
334 obs / 370.9 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.56 (0.380.84)
00.351.4
Missense OE?0.90 (0.820.99)
00.61.4
Synonymous OE?1.03
01.21.6
LoF obs/exp: 17 / 30.4Missense obs/exp: 334 / 370.9Syn Z: -0.29

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

GUCY1A1 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →