• Gene id: 2982

Gene Summary

• Gene Symbol: GUCY1A1   Gene   UCSC   Ensembl
• Aliases: GC-S-alpha-1, GC-SA3, GCS-alpha-3, GUC1A3, GUCA3, GUCSA3, GUCY1A3, MYMY6
• Gene name: guanylate cyclase 1 soluble subunit alpha 1
• Alternate names: guanylate cyclase soluble subunit alpha-1, guanylate cyclase 1, soluble, alpha 3, soluble guanylate cyclase large subunit,
• Gene location: 4q32.1 (155666709: 155737058)     Exons: 9     NC_000004.12
• Gene summary(Entrez): 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
• OMIM: 139396

Protein Summary

• Protein general information: Q02108  
  • 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)
  • Length: 690  
  • Mass: 77452
  • Tissue specificity: Detected in brain cortex and lung (at protein level). {ECO
• Sequence:

  MFCTKLKDLKITGECPFSLLAPGQVPNESSEEAAGSSESCKATVPICQDIPEKNIQESLPQRKTSRSRVYLHTLA
  ESICKLIFPEFERLNVALQRTLAKHKIKESRKSLEREDFEKTIAEQAVAAGVPVEVIKESLGEEVFKICYEEDEN
  ILGVVGGTLKDFLNSFSTLLKQSSHCQEAGKRGRLEDASILCLDKEDDFLHVYYFFPKRTTSLILPGIIKAAAHV
  LYETEVEVSLMPPCFHNDCSEFVNQPYLLYSVHMKSTKPSLSPSKPQSSLVIPTSLFCKTFPFHFMFDKDMTILQ
  FGNGIRRLMNRRDFQGKPNFEEYFEILTPKINQTFSGIMTMLNMQFVVRVRRWDNSVKKSSRVMDLKGQMIYIVE
  SSAILFLGSPCVDRLEDFTGRGLYLSDIPIHNALRDVVLIGEQARAQDGLKKRLGKLKATLEQAHQALEEEKKKT
  VDLLCSIFPCEVAQQLWQGQVVQAKKFSNVTMLFSDIVGFTAICSQCSPLQVITMLNALYTRFDQQCGELDVYKV
  ETIGDAYCVAGGLHKESDTHAVQIALMALKMMELSDEVMSPHGEPIKMRIGLHSGSVFAGVVGVKMPRYCLFGNN
  VTLANKFESCSVPRKINVSPTTYRLLKDCPGFVFTPRSREELPPNFPSEIPGICHFLDAYQQGTNSKPCFQKKDV
  EDGNANFLGKASGID

• Structural information:
  • Protein Domains: (481..60-)
    (/note="Guanylate-cyclase)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00099"-)
  • Interpro: IPR001054  IPR018297  IPR038158  IPR011644  IPR011645   IPR042463  IPR024096  IPR029787  
  • Prosite: PS00452 PS50125
  • PDB: 3UVJ 4NI2 6JT0 6JT1 6JT2
  • PDBsum: 3UVJ 4NI2 6JT0 6JT1 6JT2
  • STRING: ENSP00000296518
• Other Databases: GeneCards:  GUCY1A1  Malacards:  GUCY1A1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0004383	guanylate cyclase activity	IDA	molecular function
GO:0006182	cGMP biosynthetic process	IDA	biological process
GO:0008074	guanylate cyclase complex, soluble	IDA	cellular component
GO:0004383	guanylate cyclase activity	IEA	molecular function
GO:0006182	cGMP biosynthetic process	IEA	biological process
GO:0020037	heme binding	IEA	molecular function
GO:0009190	cyclic nucleotide biosynthetic process	IEA	biological process
GO:0016849	phosphorus-oxygen lyase activity	IEA	molecular function
GO:0035556	intracellular signal transduction	IEA	biological process
GO:0005525	GTP binding	IEA	molecular function
GO:0016829	lyase activity	IEA	molecular function
GO:0006182	cGMP biosynthetic process	IEA	biological process
GO:0000166	nucleotide binding	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0004383	guanylate cyclase activity	TAS	molecular function
GO:0038023	signaling receptor activity	TAS	molecular function
GO:0007263	nitric oxide mediated signal transduction	TAS	biological process
GO:0008015	blood circulation	TAS	biological process
GO:0008074	guanylate cyclase complex, soluble	TAS	cellular component
GO:0004383	guanylate cyclase activity	IEA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0098978	glutamatergic synapse	IEA	cellular component
GO:0060087	relaxation of vascular smooth muscle	IEA	biological process
GO:0010750	positive regulation of nitric oxide mediated signal transduction	IEA	biological process
GO:0008217	regulation of blood pressure	IEA	biological process
GO:0006182	cGMP biosynthetic process	IEA	biological process
GO:0098982	GABA-ergic synapse	IEA	cellular component
GO:0098925	retrograde trans-synaptic signaling by nitric oxide, modulating synaptic transmission	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa04022	cGMP-PKG signaling pathway
hsa00230	Purine metabolism
hsa04921	Oxytocin signaling pathway
hsa04270	Vascular smooth muscle contraction
hsa04611	Platelet activation
hsa04713	Circadian entrainment
hsa04970	Salivary secretion
hsa04540	Gap junction
hsa04924	Renin secretion
hsa04730	Long-term depression

Diseases

Associated diseases	References
Moyamoya disease	KEGG:H01396
Moyamoya disease	KEGG:H01396
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R