| Type | Description |
|---|---|
| Definition | G protein-coupled receptor 143 |
| Date | Results | Publications |
|---|---|---|
| 2020-06-06 13:16:00 | The mutation c.360+5G>T in the GPR143 gene was identified in this family. In conclusion, the present study identified the splicing mutation c.360+5G>T in the GPR143 gene in a Chinese family with Ocular albinism type 1 and successfully identified the site. | 31746431 |
| 2020-02-22 12:52:00 | Pathogenic variants in the GPR143 gene may disturb the normal melanogenesis in the pigmented tissues of the eye, result in macular hypoplasia, and alter the thickness of the iris. | 31574285 |
| 2020-02-08 11:37:00 | reduced signaling of GPR143 may be a potential contributor to age-related macular degenerationpathogenesis [review] | 31884582 |
| 2019-05-25 12:06:00 | GPR143 deletion is associated with Ocular albinism with infertility and late-onset sensorineural hearing loss. | 30160833 |
| 2019-02-23 11:41:00 | These studies corroborate RPE melanin as the major source of NIR-AF but also indicate that bisretinoid lipofuscin, when present at sufficient concentrations, contributes to the NIR-AF signal. Ocular melanin attenuates the SW-AF signal. | 29847651 |
| Type | IDs |
|---|---|
| Synonymous | NYS6, OA1 |
| Gene |
UniProtKB-ID:
GP143_HUMAN
UniprotKB:
P51810
UniParc:
UPI0000130B4E
EMBL:
AC003036,
Z48804,
BC068977,
CH471074,
AC090481
Ensembl:
ENSG00000101850
KO:
hsa:4935
|
| Nucleutide sequences |
EMBL-CDS:
CAA88742.1,
EAW98773.1,
AAH68977.1
Ensembl_TRS:
ENST00000467482
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000417161
RefSeq:
XP_024308156.1,
XP_024308155.1,
NP_000264.2,
XP_005274598.1
|
| Others |
UniRef100:
UniRef100_P51810
UniRef90:
UniRef90_P51810
UniRef50:
UniRef50_P51810
UniGene:
Hs.74124
CCDS:
CCDS14134.2
|
| 排名 | 科研单位 | 文献 |
|---|---|---|
| 1 |
National Cancer Institute |
3 |
| 2 |
Telethon Institute of Genetics and Medicine |
2 |
| 3 |
Institut Curie |
2 |
| 4 |
University of Bonn |
2 |
| 5 |
New York University School of Medicine |
2 |
| 排名 | 研究人员 | 文献 |
|---|---|---|
| 1 |
M V Schiaffino |
5 |
| 2 |
M T Bassi |
5 |
| 3 |
A Ballabio |
4 |
| 4 |
R A Lewis |
3 |
| 5 |
A A Bergen |
3 |