| URN | urn:agi-llid:2978 |
|---|---|
| Connectivity | 29 |
| Name | Guca1a |
| Description | guanylate cyclase activator 1A (retina) |
| Notes | This gene plays a role in the recovery of retinal photoreceptors from photobleaching. In the recovery phase, the phototransduction messeneger cGMP is replenished by retinal guanylyl cyclase-1 (GC1). GC1 is activated by decreasing Ca(2+) concentrations following photobleaching. The protein encoded by this gene, guanylyl cyclase activating protein 1 (GCAP1), mediates the sensitivity of GC1 to Ca(2+) concentrations. GCAP1 promotes activity of GC1 at low Ca(2+) concentrations and inhibits GC1 activity at high Ca(2+) concentrations. Mutations in this gene cause autosomal dominant cone dystrophy (COD3); a disease characterized by reduced visual acuity associated with progressive loss of color vision. Mutations in this gene prohibit the inactivation of RetGC1 at high Ca(2+) concentrations; causing the constitutive activation of RetGC1 and, presumably, increased cell death. This gene is expressed in retina and spermatagonia. [provided by RefSeq] |
| Pathway | visual phototransduction pathway |
|---|
| GO Molecular Function | calcium ion binding |
|---|---|
| guanylate cyclase regulator activity | |
| calcium sensitive guanylate cyclase activator activity |
| GO Cellular Component | photoreceptor inner segment |
|---|---|
| membrane | |
| neuronal cell body | |
| membrane fraction | |
| photoreceptor outer segment |
| GO Biological Process | response to stimulus |
|---|---|
| visual perception | |
| phototransduction | |
| signal transduction | |
| positive regulation of cGMP biosynthetic process | |
| regulation of guanylate cyclase activity | |
| positive regulation of guanylate cyclase activity |
| Group | response to stimulus |
|---|---|
| visual perception | |
| phototransduction | |
| signal transduction | |
| positive regulation of cGMP biosynthetic process | |
| regulation of guanylate cyclase activity | |
| positive regulation of guanylate cyclase activity | |
| calcium ion binding | |
| guanylate cyclase regulator activity | |
| calcium sensitive guanylate cyclase activator activity | |
| photoreceptor inner segment | |
| membrane | |
| neuronal cell body | |
| membrane fraction | |
| photoreceptor outer segment |
| MedScan ID | 2978 |
|---|
| Hugo ID | 4678 |
|---|
| Human chromosome position | 6p21.1 |
|---|
| LocusLink ID | 2978 |
|---|---|
| 14913 | |
| 301233 |
| Alias | COD3 |
|---|---|
| GCAP | |
| GUCA | |
| GCAP1 | |
| GUCA1 | |
| CORD14 | |
| C6orf131 | |
| dJ139D8.6 | |
| RP1-139D8.2 | |
| guanylyl cyclase-activating protein 1 | |
| GCAP 1 | |
| cone dystrophy 3 | |
| OTTHUMP00000016397 | |
| guanylin 1, retina | |
| guanylate cyclase-activating protein, photoreceptor 1 | |
| GC-A | |
| mGCAP1 | |
| chromosome 6 open reading frame 131 | |
| GCAP I | |
| Guanylate cyclase activator 1A | |
| guanylate cyclase activator 1A (retina) | |
| Guanylyl cyclase activating protein 1 | |
| Guanylyl cyclase activating protein I | |
| GUCA I | |
| Guca1a | |
| OTTHUMP00000196466 |
| Organism | Homo sapiens |
|---|---|
| Mus musculus | |
| Rattus norvegicus |
| OMIM ID | 600364 |
|---|---|
| 602093 |
| Mouse chromosome position | 17 |
|---|
| GO ID | 0005509 |
|---|---|
| 0008048 | |
| 0050896 | |
| 0007165 | |
| 0007601 | |
| 0016020 | |
| 0030249 | |
| 0007602 | |
| 0030828 | |
| 0031284 | |
| 0031282 | |
| 0005624 | |
| 0043025 | |
| 0001917 | |
| 0001750 |
| Rat chromosome position | 9q12 |
|---|
| Swiss-Prot Accession | P43080 |
|---|---|
| Q8R0H3 | |
| P43081 | |
| B3KWT4 | |
| Q7Z6T1 | |
| Q9NU14 |
| PIR ID | C55331 |
|---|
| Unigene ID | Hs.92858 |
|---|---|
| Mm.16224 | |
| Rn.39165 |
| KEGG ID | hsa:2978 |
|---|---|
| mmu:14913 | |
| rno:301233 |
| Swiss-Prot ID | GUC1A_HUMAN |
|---|---|
| Q8R0H3_MOUSE | |
| B3KWT4_HUMAN |
| Cell Localization | Membrane |
|---|
| IPI ID | IPI00218720 |
|---|---|
| IPI00277915 | |
| IPI00745242 | |
| IPI00852589 | |
| IPI00396803 | |
| IPI00209513 |
| Homologene ID | 353 |
|---|
| RGD ID | 1308712 |
|---|
| MGI ID | 102770 |
|---|