| Type | Description |
|---|---|
| Definition | guanylate cyclase activator 1A |
| Date | Results | Publications |
|---|---|---|
| 2021-01-30 13:02:00 | Normal GCAPs partly compensate for altered cGMP signaling in retinal dystrophies associated with mutations in GUCA1A. | 31882816 |
| 2020-12-12 13:23:00 | Missense mutations affecting Ca(2+)-coordination in GCAP1 lead to cone-rod dystrophies by altering protein structural and functional properties. | 32650103 |
| 2020-11-21 13:17:00 | Constitutive Activation of Guanylate Cyclase by the G86R GCAP1 Variant Is Due to ""Locking"" Cation-pi Interactions that Impair the Activator-to-Inhibitor Structural Transition. | 31979372 |
| 2020-10-31 13:13:00 | Characterization of GUCA1A-associated dominant cone/cone-rod dystrophy: low prevalence among Japanese patients with inherited retinal dystrophies. | 31728034 |
| 2020-07-11 11:00:00 | The newly discovered missense mutation in GUCA1A (p.D144G) might lead to an imbalance of Ca(2+) and cGMP homeostasis and eventually, cause a significant variation in autosomal dominant cone dystrophy. | 32025184 |
| Type | IDs |
|---|---|
| Synonymous | C6orf131, COD3, CORD14, GCAP, GCAP1, GUCA, GUCA1 |
| Gene |
UniProtKB-ID:
GUC1A_HUMAN,
B2R9P6_HUMAN
UniprotKB:
P43080,
B2R9P6
UniParc:
UPI00017506FA,
UPI0000001C22
EMBL:
CH471081,
BC031663,
L36859,
AK125780,
L36861,
AK313865,
AL096814
Ensembl:
ENSG00000048545
KO:
hsa:2978
|
| Nucleutide sequences |
EMBL-CDS:
BAG54246.1,
AAA60542.1,
AAH31663.1,
AAA60541.1,
EAX04084.1,
BAG36593.1
Ensembl_TRS:
ENST00000372958,
ENST00000654459
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000362049,
ENSP00000499539
RefSeq:
NP_001371839.1
|
| Others |
UniRef100:
UniRef100_B2R9P6,
UniRef100_P43080
UniRef90:
UniRef90_P43080
UniRef50:
UniRef50_P43080
UniGene:
Hs.92858
CCDS:
CCDS4864.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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| Location | {{protein.contigId}} ( {{protein.positionStart}}..{{protein.positionEnd}} , {{protein.orientation}} ) | |||||||
| Conserved domain | Region: {{conservedDomain.region == '' || conservedDomain.region == null ? "-": conservedDomain.region}} GFID: {{conservedDomain.gfid == '' || conservedDomain.gfid == null ? "-": conservedDomain.gfid}} Family: {{conservedDomain.family == '' || conservedDomain.family == null ? "-": conservedDomain.family}} CDD: {{conservedDomain.cdd}} - |
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