P54845

PTMD Annotation Information

※ Protein Information

Tag Content
UniProt Accession NRL_HUMAN; P54845;
Entrez ID 4901
GenBank Protein ID NM_006177.3; XM_005267708.4; XM_005267709.3; XM_005267710.3; XM_011536802.1; XM_011536804.2; XM_011536805.2;
GenBank Nucleotide ID NP_006168.1; XP_005267765.1; XP_005267766.1; XP_005267767.1; XP_011535104.1; XP_011535106.1; XP_011535107.1;
Protein Name Neural retina-specific leucine zipper protein (NRL)
Gene Name NRL; D14S46E
Organism Homo sapiens
NCBI Taxa ID 9606
Functional DescriptionActs as a transcriptional activator which regulates the expression of several rod-specific genes, including RHO and PDE6B (PubMed:21981118). Functions also as a transcriptional coactivator, stimulating transcription mediated by the transcription factor CRX and NR2E3 (PubMed:17335001). Binds in a sequence-specific manner to the rhodopsin promoter (PubMed:17335001).
Sequence
(Fasta)		MALPPSPLAM EYVNDFDLMK FEVKREPSEG RPGPPTASLG STPYSSVPPS PTFSEPGMVG 60
ATEGTRPGLE ELYWLATLQQ QLGAGEALGL SPEEAMELLQ GQGPVPVDGP HGYYPGSPEE 120
TGAQHVQLAE RFSDAALVSM SVRELNRQLR GCGRDEALRL KQRRRTLKNR GYAQACRSKR 180
LQQRRGLEAE RARLAAQLDA LRAEVARLAR ERDLYKARCD RLTSSGPGSG DPSHLFL 238

※ PTM-Disease Association

NumPTMDiseaseCell TypeTypePTM SitePMID
1Serine PhosphorylationAutosomal retinitis pigmentosaCOS-1 and HEK293 cells DS5017335001
[Reference]: Six mutations at residues p.S50 (c.148T>A, c.148T>C, and c.149C>T) and p.P51 (c.151C>A, c.151C>T, and c.152C>T), identified in patients with autosomal dominant retinitis pigmentosa, result in a major NRL isoform that exhibits reduced phosphorylation but enhanced activation of the rhodopsin promoter.?

※ Disease Cross-ref Annotation

DatabaseAnnotation
CTD (Curated)
(count: 4)		MESH:D009755 ; Night Blindness
MESH:D012162 ; Retinal Degeneration
MESH:D012174 ; Retinitis Pigmentosa
MESH:C563526 ; Retinitis Pigmentosa 27

※ PTM Sites

PTM Modification Sites
Phosphorylation
(count: 3)		 36        EGRPGPPTASLGSTP     dbPAF
50        PYSSVPPSPTFSEPG     dbPAF
52        SSVPPSPTFSEPGMV     dbPAF
Sumoylation
(count: 2)		 20        VNDFDLMKFEVKREP     PLMD
24        DLMKFEVKREPSEGR     PLMD