InnateDB Protein
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IDBP-596252.3
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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GUCA1A
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Protein Name
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guanylate cyclase activator 1A (retina)
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Synonyms
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C6orf131; COD3; CORD14; dJ139D8.6; GCAP; GCAP1; GUCA; GUCA1;
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000437476
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InnateDB Gene
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IDBG-87058 (GUCA1A)
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Protein Structure
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Function |
Stimulates guanylyl cyclase 1 (GC1) when free calcium ions concentration is low and inhibits GC1 when free calcium ions concentration is elevated. This Ca(2+)-sensitive regulation of GC is a key event in recovery of the dark state of rod photoreceptors following light exposure.
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Subcellular Localization |
Membrane; Lipid-anchor.
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Disease Associations |
Cone dystrophy 3 (COD3) [MIM:602093]: An autosomal dominant cone dystrophy. Cone dystrophies are retinal dystrophies characterized by progressive degeneration of the cone photoreceptors with preservation of rod function, as indicated by electroretinogram. However, some rod involvement may be present in some cone dystrophies, particularly at late stage. Affected individuals suffer from photophobia, loss of visual acuity, color vision and central visual field. Another sign is the absence of macular lesions for many years. Cone dystrophies are distinguished from the cone-rod dystrophies in which some loss of peripheral vision also occurs. {ECO:0000269PubMed:11146732, ECO:0000269PubMed:11484154, ECO:0000269PubMed:15505030, ECO:0000269PubMed:15735604, ECO:0000269PubMed:15790869, ECO:0000269PubMed:19459154, ECO:0000269PubMed:9425234}. Note=The disease is caused by mutations affecting the gene represented in this entry.
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Tissue Specificity |
Retina; cone outer and inner segments, in particular, in disk membrane regions, and to a lesser extent rod inner and outer segments.
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 1 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.
Experimentally validated |
Total |
1
[view]
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Protein-Protein |
1
[view]
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Protein-DNA |
0
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Predicted by orthology |
Total |
1 [view]
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Molecular Function |
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
IPR002048
EF-hand domain
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PFAM |
PF00036
PF13202
PF13405
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PRINTS |
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PIRSF |
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SMART |
SM00054
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TIGRFAMs |
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Modification |
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SwissProt |
P43080
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PhosphoSite |
PhosphoSite-
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TrEMBL |
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UniProt Splice Variant |
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Entrez Gene |
2978
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UniGene |
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RefSeq |
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HUGO |
HGNC:4678
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OMIM |
600364
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CCDS |
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HPRD |
02648
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IMGT |
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EMBL |
AK125780
AL096814
BC031663
CH471081
L36859
L36861
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GenPept |
AAA60541
AAA60542
AAH31663
BAG54246
CAB89167
CAD92530
EAX04084
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