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

Gene Gene information from NCBI Gene database. Gene Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	2983
Gene name	Guanylate cyclase 1 soluble subunit beta 1
Gene symbol	GUCY1B1
Synonyms (NCBI Gene)	GC-S-beta-1GC-SB3GUC1B3GUCB3GUCSB3GUCY1B3
Chromosome	4
Chromosome location	4q32.1
Summary	This gene encodes the beta subunit of the soluble guanylate cyclase (sGC), which catalyzes the conversion of GTP (guanosine triphosphate) to cGMP (cyclic guanosine monophosphate). The encoded protein contains an HNOX domain, which serves as a receptor for

Show/Hide all (2)

Transcription factor	Regulation	Reference
GFI1	Unknown	14504408
NFIC	Unknown	14504408

Show/Hide all (41)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0004016	Function	Adenylate cyclase activity	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	IDA
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: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	IEA
GO:0008074	Component	Guanylate cyclase complex, soluble	IPI	23505436
GO:0008074	Component	Guanylate cyclase complex, soluble	TAS	1352257
GO:0009190	Process	Cyclic nucleotide biosynthetic process	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:0020037	Function	Heme binding	ISS
GO:0032991	Component	Protein-containing complex	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:0038060	Process	Nitric oxide-cGMP-mediated signaling	ISS
GO:0044877	Function	Protein-containing complex binding	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0047805	Function	Cytidylate cyclase activity	IEA
GO:0051879	Function	Hsp90 protein binding	IEA
GO:0070026	Function	Nitric oxide binding	IEA
GO:0070482	Process	Response to oxygen levels	IBA
GO:0071732	Process	Cellular response to nitric oxide	ISS
GO:0098831	Component	Presynaptic active zone cytoplasmic component	IEA
GO:0098978	Component	Glutamatergic synapse	IEA

MIM	HGNC	e!Ensembl
139397	4687	ENSG00000061918

Q02153

Protein name

Guanylate cyclase soluble subunit beta-1 (GCS-beta-1) (EC 4.6.1.2) (Guanylate cyclase soluble subunit beta-3) (GCS-beta-3) (Soluble guanylate cyclase small subunit)

Protein function

Mediates responses to nitric oxide (NO) by catalyzing the biosynthesis of the signaling molecule cGMP.

PDB

2WZ1 , 3UVJ , 4NI2 , 5MNW , 6JT0 , 6JT1 , 6JT2 , 7D9R , 7D9S , 7D9T , 7D9U , 8HBE , 8HBF , 8HBH

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF07700	HNOB	2 → 166	Haem-NO-binding	Domain
PF07701	HNOBA	206 → 406	Heme NO binding associated	Domain
PF00211	Guanylate_cyc	412 → 606	Adenylate and Guanylate cyclase catalytic domain	Domain

Tissue specificity

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

Sequence

MYGFVNHALELLVIRNYGPEVWEDIKKEAQLDEEGQFLVRIIYDDSKTYDLVAAASKVLN
LNAGEILQMFGKMFFVFCQESGYDTILRVLGSNVREFLQNLDALHDHLATIYPGMRAPSF
RCTDAEKGKGLILHYYSEREGLQDIVIGIIKTVAQQIHGTEIDMKVIQQRNEECDHTQFL
IEEKESKEEDFYEDLDRFEENGTQESRISPYTFCKAFPFHIIFDRDLVVTQCGNAIYRVL
PQLQPGNCSLLSVFSLVRPHIDISFHGILSHINTVFVLRSKEGLLDVEKLECEDELTGTE
ISCLRLKGQMIYLPEADSILFLCSPSVMNLDDLTRRGLYLSDIPLHDATRDLVLLGEQFR
EEYKLTQELEILTDRLQLTLRALEDEKKKTDTLLYSVLPPSVANELRHKRPVPAKRYDNV
TILFSGIVGFNAFCSKHASGEGAMKIVNLLNDLYTRFDTLTDSRKNPFVYKVETVGDKYM
TVSGLPEPCIHHARSICHLALDMMEIAGQVQVDGESVQITIGIHTGEVVTGVIGQRMPRY
CLFGNTVNLTSRTETTGEKGKINVSEYTYRCLMSPENSDPQFHLEHRGPVSMKGKKEPMQ
VWFLSRKNTGTEETKQDDD

Sequence length

619

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

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (9)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
COLORECTAL CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETIC RETINOPATHY	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSION	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOCARDIAL INFARCTION	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UTERINE FIBROID	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (13)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Autism Spectrum Disorder	Autism	Pubtator	37291580	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	30597209		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular disease	Pubtator	21909115	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	38179743	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	32859214	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Erectile dysfunction	Erectile Dysfunction	LHGDN	16528291		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	15201957		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	28465505		★★★★★ ★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory bowel disease	Pubtator	37291580	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	30597209		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	30485489		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Obesity	Obesity	Pubtator	37399741	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	36981021	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

GUCY1B1 (guanylate cyclase 1 soluble subunit beta 1)