Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	2982
Gene name Gene Name - the full gene name approved by the HGNC.	Guanylate cyclase 1 soluble subunit alpha 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	GUCY1A1
Synonyms (NCBI Gene) Gene synonyms aliases	GC-S-alpha-1, GC-SA3, GCS-alpha-3, GUC1A3, GUCA3, GUCSA3, GUCY1A3, MYMY6
Chromosome Chromosome number	4
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	4q32.1
Summary Summary of gene provided in NCBI Entrez Gene.	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 guanylat

Show/Hide all(7)

SNP ID	Visualize variation	Clinical significance	Consequence
rs373182378	C>T	Pathogenic	Coding sequence variant, stop gained
rs587777320	G>A,T	Pathogenic	Splice donor variant
rs587777321	C>T	Pathogenic	Stop gained, coding sequence variant
rs587777322	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs587777928	->T	Pathogenic	Frameshift variant, coding sequence variant, 5 prime UTR variant
rs751701114	G>A	Pathogenic	Missense variant, coding sequence variant
rs781020381	GA>-	Pathogenic	Frameshift variant, coding sequence variant, 5 prime UTR variant

Show/Hide all(35)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0004383	Function	Guanylate cyclase activity	IBA
GO:0004383	Function	Guanylate cyclase activity	IDA	23505436
GO:0004383	Function	Guanylate cyclase activity	IEA
GO:0004383	Function	Guanylate cyclase activity	TAS	9742212
GO:0005515	Function	Protein binding	IPI	23505436, 31514202, 33961781
GO:0005525	Function	GTP binding	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	TAS
GO:0006182	Process	CGMP biosynthetic process	IBA
GO:0006182	Process	CGMP biosynthetic process	IDA	23505436
GO:0006182	Process	CGMP biosynthetic process	IEA
GO:0006182	Process	CGMP biosynthetic process	IEA
GO:0007263	Process	Nitric oxide mediated signal transduction	IEA
GO:0007263	Process	Nitric oxide mediated signal transduction	TAS	9742212
GO:0008015	Process	Blood circulation	TAS	9742212
GO:0008074	Component	Guanylate cyclase complex, soluble	IBA
GO:0008074	Component	Guanylate cyclase complex, soluble	IDA	23505436
GO:0008074	Component	Guanylate cyclase complex, soluble	IPI	23505436
GO:0008074	Component	Guanylate cyclase complex, soluble	TAS	1352257
GO:0008217	Process	Regulation of blood pressure	IEA
GO:0009190	Process	Cyclic nucleotide biosynthetic process	IEA
GO:0010750	Process	Positive regulation of nitric oxide mediated signal transduction	IEA
GO:0016829	Function	Lyase activity	IEA
GO:0016849	Function	Phosphorus-oxygen lyase activity	IEA
GO:0019934	Process	CGMP-mediated signaling	IBA
GO:0020037	Function	Heme binding	IEA
GO:0035556	Process	Intracellular signal transduction	IEA
GO:0038023	Function	Signaling receptor activity	TAS	9742212
GO:0038060	Process	Nitric oxide-cGMP-mediated signaling	IDA	23505436
GO:0060087	Process	Relaxation of vascular associated smooth muscle	IEA
GO:0070482	Process	Response to oxygen levels	IBA
GO:0098925	Process	Retrograde trans-synaptic signaling by nitric oxide, modulating synaptic transmission	IEA
GO:0098978	Component	Glutamatergic synapse	IEA
GO:0098982	Component	GABA-ergic synapse	IEA

MIM	HGNC	e!Ensembl
139396	4685	ENSG00000164116

Protein

UniProt ID

Q02108

Protein name

Guanylate cyclase soluble subunit alpha-1 (GCS-alpha-1) (EC 4.6.1.2) (Guanylate cyclase soluble subunit alpha-3) (GCS-alpha-3) (Soluble guanylate cyclase large subunit)

PDB

3UVJ , 4NI2 , 6JT0 , 6JT1 , 6JT2 , 7D9R , 7D9S , 7D9T , 7D9U , 8HBE , 8HBF , 8HBH

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF07700	HNOB	71 → 235	Haem-NO-binding	Domain
PF07701	HNOBA	275 → 362	Heme NO binding associated	Domain
PF07701	HNOBA	351 → 466	Heme NO binding associated	Domain
PF00211	Guanylate_cyc	472 → 658	Adenylate and Guanylate cyclase catalytic domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Detected in brain cortex and lung (at protein level). {ECO:0000269|PubMed:1352257}.

Sequence

MFCTKLKDLKITGECPFSLLAPGQVPNESSEEAAGSSESCKATVPICQDIPEKNIQESLP
QRKTSRSRVYLHTLAESICKLIFPEFERLNVALQRTLAKHKIKESRKSLEREDFEKTIAE
QAVAAGVPVEVIKESLGEEVFKICYEEDENILGVVGGTLKDFLNSFSTLLKQSSHCQEAG
KRGRLEDASILCLDKEDDFLHVYYFFPKRTTSLILPGIIKAAAHVLYETEVEVSLMPPCF
HNDCSEFVNQPYLLYSVHMKSTKPSLSPSKPQSSLVIPTSLFCKTFPFHFMFDKDMTILQ
FGNGIRRLMNRRDFQGKPNFEEYFEILTPKINQTFSGIMTMLNMQFVVRVRRWDNSVKKS
SRVMDLKGQMIYIVESSAILFLGSPCVDRLEDFTGRGLYLSDIPIHNALRDVVLIGEQAR
AQDGLKKRLGKLKATLEQAHQALEEEKKKTVDLLCSIFPCEVAQQLWQGQVVQAKKFSNV
TMLFSDIVGFTAICSQCSPLQVITMLNALYTRFDQQCGELDVYKVETIGDAYCVAGGLHK
ESDTHAVQIALMALKMMELSDEVMSPHGEPIKMRIGLHSGSVFAGVVGVKMPRYCLFGNN
VTLANKFESCSVPRKINVSPTTYRLLKDCPGFVFTPRSREELPPNFPSEIPGICHFLDAY
QQGTNSKPCFQKKDVEDGNANFLGKASGID

Sequence length

690

Interactions

View interactions

	KEGG
	Purine metabolism Metabolic pathways cGMP-PKG signaling pathway Vascular smooth muscle contraction Gap junction Platelet activation Circadian entrainment Long-term depression Oxytocin signaling pathway Renin secretion Salivary secretion

Show/Hide Causal Diseases (1)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Moyamoya Disease With Achalasia	moyamoya disease with early-onset achalasia	rs751701114, rs1368733883, rs587777320, rs587777321, rs587777322, rs373182378	N/A

Show/Hide Unknown Diseases (7)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Coronary artery disease	Coronary artery disease	N/A	N/A	GWAS
Coronary Heart Disease	Coronary heart disease	N/A	N/A	GWAS
Hypertension	Hypertension (confirmatory factor analysis Factor 12), High blood pressure / hypertension, Hypertension, Essential hypertension (time to event)	N/A	N/A	GWAS
Myocardial Infarction	Myocardial infarction	N/A	N/A	GWAS
Parkinson disease	Parkinson disease	N/A	N/A	GWAS
Psoriasis	Psoriasis	N/A	N/A	GWAS
Uterine Fibroids	Uterine fibroids	N/A	N/A	GWAS

Show/Hide Text Mining Associations (15)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Atherosclerosis	Inhibit	28487391
Atherosclerosis	Associate	31883534
Cardiovascular Diseases	Associate	31228190
Colonic Neoplasms	Associate	38179743
Coronary Artery Disease	Associate	28487391, 31228190, 31883534, 35192625
Coronary Disease	Associate	28982690
Esophageal Achalasia	Associate	24581742, 30001348
Infarction Anterior Cerebral Artery	Associate	31883534
Intracranial Arteriosclerosis	Associate	31883534
Moyamoya Disease	Associate	24581742, 30001348, 36941667
Neoplasms	Associate	36981021
Parkinson Disease	Associate	28586827
Pulmonary Arterial Hypertension	Associate	36941667
Stomach Neoplasms	Associate	36981021
Superior Mesenteric Artery Syndrome	Associate	36941667

GUCY1A1 (guanylate cyclase 1 soluble subunit alpha 1)