| Type | Description |
|---|---|
| Definition | neural retina leucine zipper |
| Date | Results | Publications |
|---|---|---|
| 2018-12-22 11:01:00 | that two photoreceptor-specific transcription factors, NRL and CRX, are master regulators of this program and are required for tumor maintenance in this subgroup | 29533784 |
| 2018-05-12 11:52:00 | We identified a novel NRL mutation (c.147_149del, p.Ser50del) leading to adRP in a Chinese family with retinitis pigmenntosa. | 28106895 |
| 2017-11-11 11:55:00 | investigated the prevalence of the NRL mutation among Bukhara Jews with oculopharyngeal muscular dystrophy (OPMD) | 28590779 |
| 2017-05-27 11:17:00 | This report expands the spectrum of NRL recessive mutations, as well as the genetic spectrum of ESCS, and indicates a new syndrome of OPMD with an ESCS-like phenotype. | 27732723 |
| 2016-11-12 11:53:00 | The c.146 C>T mutation in NRL gene causes autosomal dominant retinitis pigmentosa for this family. | 27081294 |
| Type | IDs |
|---|---|
| Synonymous | D14S46E, NRL-MAF, RP27 |
| Gene |
UniProtKB-ID:
NRL_HUMAN
UniprotKB:
P54845
UniParc:
UPI000000CC15,
UPI00001FD293
EMBL:
AB593101,
U95012,
AL136295,
AB593103,
CH471078,
AB593104,
BX161381,
AB593102,
M81840,
BT006942,
BX161522,
BC012395,
AB593105,
M95925,
AB593106
Ensembl:
ENSG00000285493,
ENSG00000129535
KO:
hsa:4901
|
| Nucleutide sequences |
EMBL-CDS:
BAJ84045.1,
AAB82768.1,
AAP35588.1,
AAA59948.1,
BAJ84044.1,
BAJ84043.1,
BAJ84046.1,
AAH12395.1,
CAD61873.1,
AAA96828.1,
CAD61954.1,
EAW66116.1,
BAJ84042.1,
BAJ84041.1
Ensembl_TRS:
ENST00000396995,
ENST00000645740,
ENST00000646526,
ENST00000397002,
ENST00000647376,
ENST00000560550,
ENST00000642485,
ENST00000396997,
ENST00000643394,
ENST00000561028
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000496316,
ENSP00000496275,
ENSP00000452966,
ENSP00000380197,
ENSP00000454062,
ENSP00000380191,
ENSP00000495627,
ENSP00000380193,
ENSP00000495155,
ENSP00000494928
RefSeq:
XP_011535108.2,
XP_005267766.1,
XP_011535107.1,
XP_011535106.1,
NP_001341697.1,
XP_011535104.1,
XP_011535103.2,
NP_001341699.1,
NP_001341698.1,
NP_006168.1
|
| Others |
UniRef100:
UniRef100_P54845
UniRef90:
UniRef90_P54845
UniRef50:
UniRef50_P54845
UniGene:
Hs.652297
CCDS:
CCDS9608.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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| 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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