| Type | Description |
|---|---|
| Definition | cyclic nucleotide gated channel alpha 1 |
| Date | Results | Publications |
|---|---|---|
| 2017-02-04 10:56:00 | Compound heterozygous mutations (NM000087, p.Y82X and p.L89fs) in exon 6 of CNGA1are pathogenic mutations in this Chinese family affected with autosomal recessive retinitis pigmentosa. Of which, p.Y82X is firstly reported in patient with autosomal recessive retinitis pigmentosa. | 27391953 |
| 2016-10-22 11:30:00 | The mut CNGA1 p.(G513R) protein was largely retained inside the cell rather than being targeted to the plasma membrane, suggesting the absence of cGMP-gated cation channels in the plasma membrane | 26802146 |
| 2015-06-20 11:27:00 | CNGA1 mutations are one of the most frequent autosomal recessive retinitis pigmentosa-causing mutations in the Japanese patients. | 25268133 |
| 2013-02-09 11:38:00 | Insulin receptor (IR), an integral membrane protein, directly phosphorylates the CNGA1 subunit of CNG channels that in turn affects the function of these channels negatively. CNGA1 is a direct substrate of IR. | 23032687 |
| 2010-12-05 22:08:00 | Observational study of genetic testing. (HuGE Navigator) | 20801516 |
| Type | IDs |
|---|---|
| Synonymous | CNCG, CNCG1, CNG-1, CNG1, RCNC1, RCNCa, RCNCalpha, RP49 |
| Gene |
UniProtKB-ID:
CNGA1_HUMAN,
A0A024R9X3_HUMAN
UniprotKB:
P29973,
A0A024R9X3
UniParc:
UPI000013E808,
UPI0001881B54
EMBL:
M84741,
AK292021,
CH471069,
AC096749,
AC107068,
S42457,
S76062
Ensembl:
ENSG00000198515
KO:
hsa:1259
|
| Nucleutide sequences |
EMBL-CDS:
AAD14206.1,
BAF84710.1,
AAB22778.1,
AAY40919.1,
EAW93048.1,
AAA52010.1,
EAW93049.1
Gene_ORFName:
hCG_17409
Ensembl_TRS:
ENST00000420489,
ENST00000514170,
ENST00000544810,
ENST00000358519,
ENST00000402813
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000351320,
ENSP00000443401,
ENSP00000426862,
ENSP00000389881,
ENSP00000384264
RefSeq:
XP_005248106.2,
NP_000078.3,
NP_001136036.2,
XP_011511925.1,
NP_001366199.1
|
| Others |
UniRef100:
UniRef100_P29973
UniRef90:
UniRef90_P29973
UniRef50:
UniRef50_Q16281
UniGene:
Hs.1323
|
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|---|---|---|---|---|---|---|---|---|
| Refseq |
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