NRL
entrez
4901
canonical
uniprot
P54845
canonical
ensembl
ENSG00000129535
resolver
ensembl
ENSG00000285493
resolver
ensp
ENSP00000380193
resolver
ensp
ENSP00000380197
resolver
ensp
ENSP00000454062
resolver
ensp
ENSP00000575143
resolver
ensp
ENSP00000667227
resolver
genesymbol
NRL
resolver
genesymbol_syn
D14S46E
resolver
hgnc
HGNC:8002
resolver
uniprot
A8MX14
resolver
uniprot
Q53XD0
resolver
uniprot_entry
NRL_HUMAN
resolver
uniprot_sec
A8MX14
resolver
uniprot_sec
Q53XD0
resolver
amino_acid_sequence
MALPPSPLAMEYVNDFDLMKFEVKREPSEGRPGPPTASLGSTPYSSVPPSPTFSEPGMVGATEGTRPGLEELYWLATLQQQLGAGEALGLSPEEAMELLQGQGPVPVDGPHGYYPGSPEETGAQHVQLAERFSDAALVSMSVRELNRQLRGCGRDEALRLKQRRRTLKNRGYAQACRSKRLQQRRGLEAERARLAAQLDALRAEVARLARERDLYKARCDRLTSSGPGSGDPSHLFL
uniprot
proteins
disease_involvement
DISEASE: Retinitis pigmentosa 27 (RP27) [MIM:613750]: A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. {ECO:0000269|PubMed:10192380, ECO:0000269|PubMed:11385710, ECO:0000269|PubMed:11879142, ECO:0000269|PubMed:15591106, ECO:0000269|PubMed:15994872, ECO:0000269|PubMed:17335001, ECO:0000269|PubMed:21981118, ECO:0000269|PubMed:35653045}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Enhanced S-cone syndrome 2 (ESCS2) [MIM:621371]: A form of enhanced S-cone syndrome, an autosomal recessive retinopathy characterized by increased sensitivity to blue light due to an increase in the number of cone photoreceptors for short wavelength light. Affected individuals experience early-onset night blindness, visual loss, varying degrees of L (long, red)- and M (middle, green)-cone vision, and retinal degeneration. {ECO:0000269|PubMed:15591106, ECO:0000269|PubMed:17335001, ECO:0000269|PubMed:21217109, ECO:0000269|PubMed:22334370, ECO:0000269|PubMed:35693422}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Acts as a transcriptional activator which regulates the expression of several rod-specific genes, including RHO and PDE6B (PubMed:21981118). Also functions as a transcriptional coactivator, stimulating transcription mediated by the transcription factor CRX and NR2E3 (PubMed:17335001). Binds to the rhodopsin promoter in a sequence-specific manner (PubMed:17335001). {ECO:0000269|PubMed:17335001, ECO:0000269|PubMed:21981118}.
uniprot
proteins
mass_dalton
25940
uniprot
proteins
post_translational_modification
PTM: Phosphorylated (PubMed:11477108, PubMed:17335001). {ECO:0000269|PubMed:11477108, ECO:0000269|PubMed:17335001}.; PTM: Disumoylated at Lys-20. Sumoylation modulates the transcriptional activity of NRL on RHO and NR2E3 promoters, and is required for normal rod differentiation (By similarity). {ECO:0000250|UniProtKB:P54846}.
uniprot
proteins
protein_family
BZIP family
uniprot
proteins
pubmed
10192380
uniprot
proteins
pubmed
10887186
uniprot
proteins
pubmed
11385710
uniprot
proteins
pubmed
11477108
uniprot
proteins
pubmed
11879142
uniprot
proteins
pubmed
12508121
uniprot
proteins
pubmed
15328344
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15591106
uniprot
proteins
pubmed
15994872
uniprot
proteins
pubmed
1729696
uniprot
proteins
pubmed
17335001
uniprot
proteins
pubmed
21217109
uniprot
proteins
pubmed
21697133
uniprot
proteins
pubmed
21981118
uniprot
proteins
pubmed
22334370
uniprot
proteins
pubmed
35653045
uniprot
proteins
pubmed
35693422
uniprot
proteins
pubmed
9344665
uniprot
proteins
sequence_length
237
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:11477108}. Nucleus {ECO:0000269|PubMed:11477108, ECO:0000269|PubMed:17335001}.
uniprot
proteins