| Type | Description |
|---|---|
| Definition | G protein subunit alpha transducin 1 |
| Date | Results | Publications |
|---|---|---|
| 2020-06-13 11:57:00 | Homozygous in-frame deletion of GNAT1 gene is associated with Stationary night blindness, Oguchi type. | 31696758 |
| 2020-04-11 10:06:00 | This is the second report of a Nougaret-type congenital stationary night blindness (CSNB) family with the GNAT1 variant. Our novel findings suggest that coexistence of the GNAT1 and biallelic ABCA4 variants is associated with an overlapping phenotype with both Nougaret-type CSNB and cone-rod dystrophy. | 31583501 |
| 2018-10-06 11:02:00 | Our family's ERG showed essentially no rod response, consistent with a Danish GNAT1 pedigree but different from the Nougaret GNAT1 pedigree that shows partial preservation of rod signal. A genetic connection between Complete congenital stationary night blindness and postural orthostatic tachycardia syndrome would be intriguing, but we found no evidence for this. | 30051303 |
| 2016-08-06 11:17:00 | These data suggest that some truncating GNAT1 variants can indeed cause a recessive, mild, late-onset retinal degeneration in human beings rather than just stationary night-blindness as reported previously. | 26472407 |
| 2014-04-12 12:02:00 | Three candidate tumor-suppressor genes, SEMA3B, AXUD1 and GNAT1 may be involved in oral squamous cell carcinoma. | 23292452 |
| Type | IDs |
|---|---|
| Synonymous | CSNB1G, CSNBAD3, GBT1, GNATR |
| Gene |
UniProtKB-ID:
GNAT1_HUMAN,
A1LQ23_HUMAN
UniprotKB:
P11488,
A1LQ23
UniParc:
UPI000000124C
EMBL:
AC002077,
CH471055,
X63749,
AF493908,
BC095505,
X15088
Ensembl:
ENSG00000114349
KO:
hsa:2779
|
| Nucleutide sequences |
EMBL-CDS:
AAB54048.1,
CAA33196.1,
CAB37839.2,
AAM12622.1,
AAH95505.1,
EAW65048.1,
EAW65047.1
Gene_ORFName:
hCG_1784108
Ensembl_TRS:
ENST00000232461,
ENST00000433068
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000232461,
ENSP00000387555
RefSeq:
NP_653082.1,
NP_000163.2
|
| Others |
UniRef100:
UniRef100_P11488
UniRef90:
UniRef90_P11488
UniRef50:
UniRef50_P11488
UniGene:
Hs.517978
CCDS:
CCDS2812.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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