• Gene id: 2978

Gene Summary

• Gene Symbol: GUCA1A   Gene   UCSC   Ensembl
• Aliases: C6orf131, COD3, CORD14, GCAP, GCAP1, GUCA, GUCA1
• Gene name: guanylate cyclase activator 1A
• Alternate names: guanylyl cyclase-activating protein 1, cone dystrophy 3, guanylate cyclase-activating protein, photoreceptor 1, guanylin 1, retina,
• Gene location: 6p21.1 (42155405: 42180055)     Exons: 3     NC_000006.12
• Gene summary(Entrez): This gene encodes an enzyme that plays a role in the recovery of retinal photoreceptors from photobleaching. This enzyme promotes the activity of retinal guanylyl cyclase-1 (GC1) at low calcium concentrations and inhibits GC1 at high calcium concentration
• OMIM: 600364

Protein Summary

• Protein general information: P43080  
  • Name: Guanylyl cyclase activating protein 1 (GCAP 1) (Guanylate cyclase activator 1A)
  • Length: 201  
  • Mass: 22920
  • Tissue specificity: Retina; cone outer and inner segments, in particular, in disk membrane regions, and to a lesser extent rod inner and outer segments.
• Sequence:

  MGNVMEGKSVEELSSTECHQWYKKFMTECPSGQLTLYEFRQFFGLKNLSPSASQYVEQMFETFDFNKDGYIDFME
  YVAALSLVLKGKVEQKLRWYFKLYDVDGNGCIDRDELLTIIQAIRAINPCSDTTMTAEEFTDTVFSKIDVNGDGE
  LSLEEFIEGVQKDQMLLDTLTRSLDLTRIVRRLQNGEQDEEGADEAAEAAG

• Structural information:
  • Protein Domains: (14..4-)
    (/note="EF-hand-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00448-)
    (51..8-)
    (/note="EF-hand-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00448-)
    (87..12-)
    (/note="EF-hand-3)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU0044-)
  • Interpro: IPR011992  IPR018247  IPR002048  IPR033022  IPR028846  
  • Prosite: PS00018 PS50222
  • CDD: cd00051
  • STRING: ENSP00000377784
• Other Databases: GeneCards:  GUCA1A  Malacards:  GUCA1A

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005509	calcium ion binding	ISS	molecular function
GO:0071277	cellular response to calcium ion	ISS	biological process
GO:0030249	guanylate cyclase regulator activity	ISS	molecular function
GO:0008048	calcium sensitive guanylate cyclase activator activity	ISS	molecular function
GO:0031284	positive regulation of guanylate cyclase activity	ISS	biological process
GO:0005509	calcium ion binding	IEA	molecular function
GO:0007601	visual perception	IEA	biological process
GO:0001750	photoreceptor outer segment	IEA	cellular component
GO:0008048	calcium sensitive guanylate cyclase activator activity	IEA	molecular function
GO:0050896	response to stimulus	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0042995	cell projection	IEA	cellular component
GO:0007601	visual perception	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0008048	calcium sensitive guanylate cyclase activator activity	TAS	molecular function
GO:0007165	signal transduction	NAS	biological process
GO:0007601	visual perception	TAS	biological process
GO:0022400	regulation of rhodopsin mediated signaling pathway	TAS	biological process
GO:0097381	photoreceptor disc membrane	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0001750	photoreceptor outer segment	IEA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04744	Phototransduction

Diseases

Associated diseases	References
Cone-rod dystrophy and cone dystrophy	KEGG:H00481
Cone-rod dystrophy and cone dystrophy	KEGG:H00481
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Non obstructive azoospermia	MIK: 24012201
Sertoli cell only syndrome	MIK: 23869807
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
24012201	Non obstructive azoospermia			31 (4 controls, 27 cases)	Male infertility	GSE45885 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
23869807	Non obstructive azoospermia, Sertoli cell only syndrome			20 (4 controls, 16 cases)	Male infertility	GSE45887 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray