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Protein

Neural retina-specific leucine zipper protein

Gene

NRL

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Acts 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).2 Publications

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

  • DNA binding Source: ProtInc
  • DNA-binding transcription activator activity, RNA polymerase II-specific Source: NTNU_SB
  • DNA-binding transcription factor activity Source: GO_Central
  • DNA-binding transcription factor activity, RNA polymerase II-specific Source: NTNU_SB
  • leucine zipper domain binding Source: UniProtKB
  • promoter-specific chromatin binding Source: Ensembl
  • RNA polymerase II proximal promoter sequence-specific DNA binding Source: NTNU_SB
  • sequence-specific DNA binding Source: UniProtKB
  • transcription coactivator activity Source: UniProtKB

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionActivator, Developmental protein, DNA-binding
Biological processSensory transduction, Transcription, Transcription regulation, Vision

Enzyme and pathway databases

SignaLink: a signaling pathway resource with multi-layered regulatory networks

More...
SignaLinki
P54845

SIGNOR Signaling Network Open Resource

More...
SIGNORi
P54845

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Neural retina-specific leucine zipper protein
Short name:
NRL
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:NRL
Synonyms:D14S46E
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 14

Organism-specific databases

Eukaryotic Pathogen Database Resources

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EuPathDBi
HostDB:ENSG00000129535.12

Human Gene Nomenclature Database

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HGNCi
HGNC:8002 NRL

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
162080 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_P54845

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm, Nucleus

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Retinitis pigmentosa 27 (RP27)8 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:613750
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_07938250S → L in RP27; decreases phosphorylation; no effect on subcellular localization; increased transcriptional coactivator activity. 2 Publications1
Natural variantiVAR_07938350S → P in RP27; decreases phosphorylation; no effect on subcellular localization; increased transcriptional coactivator activity. 2 Publications1
Natural variantiVAR_00926850S → T in RP27; decreases phosphorylation; no effect on subcellular localization; increased transactivational activity; increased transcriptional coactivator activity. 3 PublicationsCorresponds to variant dbSNP:rs104894459EnsemblClinVar.1
Natural variantiVAR_07938451P → L in RP27; decreases phosphorylation; no effect on subcellular localization; increased transcriptional coactivator activity. 4 Publications1
Natural variantiVAR_07938551P → S in RP27; decreases phosphorylation; no effect on subcellular localization; increased transcriptional coactivator activity. 2 PublicationsCorresponds to variant dbSNP:rs794727281EnsemblClinVar.1
Natural variantiVAR_07938651P → T in RP27; autosomal dominant; decreases phosphorylation; no effect on subcellular localization; increased transcriptional coactivator activity. 2 Publications1
Natural variantiVAR_07938767P → S in RP27; no effect on phosphorylation; no effect on subcellular localization; no effect on transcriptional coactivator activity. 2 PublicationsCorresponds to variant dbSNP:rs199691910EnsemblClinVar.1
Natural variantiVAR_07938996M → T in RP27; increased transactivational activity. 1 PublicationCorresponds to variant dbSNP:rs397514516EnsemblClinVar.1
Natural variantiVAR_079390122G → E in RP27; unknown pathological significance; alters phosphorylation; no effect on subcellular localization; no effect on transcriptional coactivator activity. 2 PublicationsCorresponds to variant dbSNP:rs757038765Ensembl.1
Natural variantiVAR_068364170R → S in RP27. 1 PublicationCorresponds to variant dbSNP:rs1173385399Ensembl.1
Retinal degeneration autosomal recessive clumped pigment type (RDCP)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA retinopathy characterized by night blindness since early childhood, consistent with a severe reduction in rod function. Color vision is normal although there is a relatively enhanced function of short-wavelength-sensitive cones in the macula. Signs of retinal degeneration and clusters of clumped pigment deposits in the peripheral fundus at the level of the retinal pigment epithelium are present.
See also OMIM:613750
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07938876A → V in RDCP; unknown pathological significance; alters phosphorylation; no effect on subcellular localization; no effect on transcriptional coactivator activity. 2 PublicationsCorresponds to variant dbSNP:rs149921817Ensembl.1
Natural variantiVAR_064977160L → P in RDCP; alters phosphorylation; no effect on subcellular localization; loss of transcriptional coactivator activity. 2 PublicationsCorresponds to variant dbSNP:rs104894463EnsemblClinVar.1

Keywords - Diseasei

Disease mutation, Retinitis pigmentosa

Organism-specific databases

DisGeNET

More...
DisGeNETi
4901

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

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GeneReviewsi
NRL

MalaCards human disease database

More...
MalaCardsi
NRL
MIMi613750 phenotype

Open Targets

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OpenTargetsi
ENSG00000129535

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
791 Retinitis pigmentosa

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA31781

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
NRL

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000766331 – 237Neural retina-specific leucine zipper proteinAdd BLAST237

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section describes <strong>covalent linkages</strong> of various types formed <strong>between two proteins (interchain cross-links)</strong> or <strong>between two parts of the same protein (intrachain cross-links)</strong>, except the disulfide bonds that are annotated in the <a href="http://www.uniprot.org/manual/disulfid">'Disulfide bond'</a> subsection.<p><a href='/help/crosslnk' target='_top'>More...</a></p>Cross-linki20Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO)By similarity
Cross-linki24Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO)By similarity

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

Phosphorylated (PubMed:11477108, PubMed:17335001).2 Publications
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).By similarity

Keywords - PTMi

Isopeptide bond, Ubl conjugation

Proteomic databases

PaxDb, a database of protein abundance averages across all three domains of life

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PaxDbi
P54845

PeptideAtlas

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PeptideAtlasi
P54845

PRoteomics IDEntifications database

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PRIDEi
P54845

ProteomicsDB human proteome resource

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ProteomicsDBi
56738

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
P54845

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

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PhosphoSitePlusi
P54845

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Expressed in the brain and the retina (PubMed:11477108). Expressed strongly in rod and cone cells (at protein level) (PubMed:11477108).1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000129535 Expressed in 102 organ(s), highest expression level in pigmented layer of retina

CleanEx database of gene expression profiles

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CleanExi
HS_NRL

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
P54845 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
P54845 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
CAB026066
HPA064599

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Interacts with FIZ1; this interaction represses transactivation (By similarity). Interacts (via the leucine-zipper domain) with CRX (PubMed:10887186).By similarity1 Publication

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
110957, 8 interactors

The Eukaryotic Linear Motif resource for Functional Sites in Proteins

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ELMi
P54845

Protein interaction database and analysis system

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IntActi
P54845, 3 interactors

STRING: functional protein association networks

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STRINGi
9606.ENSP00000380193

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

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ProteinModelPortali
P54845

SWISS-MODEL Repository - a database of annotated 3D protein structure models

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SMRi
P54845

Database of comparative protein structure models

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ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family_and_domains_section">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini159 – 222bZIPPROSITE-ProRule annotationAdd BLAST64

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni30 – 93Minimal transactivation domain (MTD)1 PublicationAdd BLAST64
Regioni159 – 185Basic motifPROSITE-ProRule annotationAdd BLAST27
Regioni187 – 208Leucine-zipperPROSITE-ProRule annotationAdd BLAST22

<p>This subsection of the ‘Family and domains’ section provides general information on the biological role of a domain. The term ‘domain’ is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>Domaini

The minimal transactivation domain (MTD) is conserved across the MAF family, it may activate transcription by recruiting TBP and associated factors at the promoters of target genes.1 Publication

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the bZIP family.Curated

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
KOG4196 Eukaryota
ENOG41102C7 LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00940000161862

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000261683

The HOVERGEN Database of Homologous Vertebrate Genes

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HOVERGENi
HBG000313

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
P54845

KEGG Orthology (KO)

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KOi
K09038

Identification of Orthologs from Complete Genome Data

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OMAi
EGPHGYY

Database of Orthologous Groups

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OrthoDBi
1395389at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
P54845

TreeFam database of animal gene trees

More...
TreeFami
TF325689

Family and domain databases

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR004827 bZIP
IPR004826 bZIP_Maf
IPR013592 Maf_TF_N
IPR028575 Nrl
IPR008917 TF_DNA-bd_sf
IPR024874 Transciption_factor_Maf_fam

The PANTHER Classification System

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PANTHERi
PTHR10129 PTHR10129, 1 hit
PTHR10129:SF24 PTHR10129:SF24, 1 hit

Pfam protein domain database

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Pfami
View protein in Pfam
PF03131 bZIP_Maf, 1 hit
PF08383 Maf_N, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

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SMARTi
View protein in SMART
SM00338 BRLZ, 1 hit

Superfamily database of structural and functional annotation

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SUPFAMi
SSF47454 SSF47454, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS50217 BZIP, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 2 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 1 potential isoform that is computationally mapped.Show allAlign All

Isoform 1 (identifier: P54845-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MALPPSPLAM EYVNDFDLMK FEVKREPSEG RPGPPTASLG STPYSSVPPS
60 70 80 90 100
PTFSEPGMVG ATEGTRPGLE ELYWLATLQQ QLGAGEALGL SPEEAMELLQ
110 120 130 140 150
GQGPVPVDGP HGYYPGSPEE TGAQHVQLAE RFSDAALVSM SVRELNRQLR
160 170 180 190 200
GCGRDEALRL KQRRRTLKNR GYAQACRSKR LQQRRGLEAE RARLAAQLDA
210 220 230
LRAEVARLAR ERDLYKARCD RLTSSGPGSG DPSHLFL
Length:237
Mass (Da):25,940
Last modified:October 1, 1996 - v1
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:iCCABEDC1C1123614
GO
Isoform 2 (identifier: P54845-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-139: Missing.

Note: No experimental confirmation available.
Show »
Length:98
Mass (Da):11,276
Checksum:i1553BA64DAED254C
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H0YNW2H0YNW2_HUMAN
Neural retina-specific leucine zipp...
NRL
65Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07938250S → L in RP27; decreases phosphorylation; no effect on subcellular localization; increased transcriptional coactivator activity. 2 Publications1
Natural variantiVAR_07938350S → P in RP27; decreases phosphorylation; no effect on subcellular localization; increased transcriptional coactivator activity. 2 Publications1
Natural variantiVAR_00926850S → T in RP27; decreases phosphorylation; no effect on subcellular localization; increased transactivational activity; increased transcriptional coactivator activity. 3 PublicationsCorresponds to variant dbSNP:rs104894459EnsemblClinVar.1
Natural variantiVAR_07938451P → L in RP27; decreases phosphorylation; no effect on subcellular localization; increased transcriptional coactivator activity. 4 Publications1
Natural variantiVAR_07938551P → S in RP27; decreases phosphorylation; no effect on subcellular localization; increased transcriptional coactivator activity. 2 PublicationsCorresponds to variant dbSNP:rs794727281EnsemblClinVar.1
Natural variantiVAR_07938651P → T in RP27; autosomal dominant; decreases phosphorylation; no effect on subcellular localization; increased transcriptional coactivator activity. 2 Publications1
Natural variantiVAR_07938767P → S in RP27; no effect on phosphorylation; no effect on subcellular localization; no effect on transcriptional coactivator activity. 2 PublicationsCorresponds to variant dbSNP:rs199691910EnsemblClinVar.1
Natural variantiVAR_07938876A → V in RDCP; unknown pathological significance; alters phosphorylation; no effect on subcellular localization; no effect on transcriptional coactivator activity. 2 PublicationsCorresponds to variant dbSNP:rs149921817Ensembl.1
Natural variantiVAR_07938996M → T in RP27; increased transactivational activity. 1 PublicationCorresponds to variant dbSNP:rs397514516EnsemblClinVar.1
Natural variantiVAR_079390122G → E in RP27; unknown pathological significance; alters phosphorylation; no effect on subcellular localization; no effect on transcriptional coactivator activity. 2 PublicationsCorresponds to variant dbSNP:rs757038765Ensembl.1
Natural variantiVAR_079391125H → Q Found in a patient with atypical retinitis pigmentosa and a patient with cone dysfunction; unknown pathological significance; no effect on phosphorylation; no effect on subcellular localization. 2 PublicationsCorresponds to variant dbSNP:rs201970559Ensembl.1
Natural variantiVAR_064977160L → P in RDCP; alters phosphorylation; no effect on subcellular localization; loss of transcriptional coactivator activity. 2 PublicationsCorresponds to variant dbSNP:rs104894463EnsemblClinVar.1
Natural variantiVAR_068364170R → S in RP27. 1 PublicationCorresponds to variant dbSNP:rs1173385399Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting. The information stored in this subsection is used to automatically construct alternative protein sequence(s) for display.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0555671 – 139Missing in isoform 2. 1 PublicationAdd BLAST139

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
M95925 mRNA Translation: AAA96828.1
M81840 mRNA Translation: AAA59948.1
U95012 Genomic DNA Translation: AAB82768.1
BX161381 mRNA Translation: CAD61873.1
BX161522 mRNA Translation: CAD61954.1
AB593101 mRNA Translation: BAJ84041.1
AB593102 mRNA Translation: BAJ84042.1
AB593103 mRNA Translation: BAJ84043.1
AB593104 mRNA Translation: BAJ84044.1
AB593105 mRNA Translation: BAJ84045.1
AB593106 mRNA Translation: BAJ84046.1
BT006942 mRNA Translation: AAP35588.1
AL136295 Genomic DNA No translation available.
CH471078 Genomic DNA Translation: EAW66116.1
BC012395 mRNA Translation: AAH12395.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS9608.1 [P54845-1]

Protein sequence database of the Protein Information Resource

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PIRi
A41796

NCBI Reference Sequences

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RefSeqi
NP_006168.1, NM_006177.3 [P54845-1]
XP_005267765.1, XM_005267708.4
XP_005267766.1, XM_005267709.3 [P54845-1]
XP_005267767.1, XM_005267710.3
XP_011535104.1, XM_011536802.1 [P54845-1]
XP_011535106.1, XM_011536804.2 [P54845-1]
XP_011535107.1, XM_011536805.2 [P54845-1]

UniGene gene-oriented nucleotide sequence clusters

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UniGenei
Hs.652297

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000396995; ENSP00000380191; ENSG00000129535 [P54845-2]
ENST00000396997; ENSP00000380193; ENSG00000129535 [P54845-1]
ENST00000397002; ENSP00000380197; ENSG00000129535 [P54845-1]
ENST00000560550; ENSP00000452966; ENSG00000129535 [P54845-2]
ENST00000561028; ENSP00000454062; ENSG00000129535 [P54845-1]
ENST00000642485; ENSP00000494928; ENSG00000285493 [P54845-2]
ENST00000643394; ENSP00000495627; ENSG00000285493 [P54845-1]
ENST00000645740; ENSP00000495155; ENSG00000285493 [P54845-2]
ENST00000646526; ENSP00000496316; ENSG00000285493 [P54845-1]
ENST00000647376; ENSP00000496275; ENSG00000285493 [P54845-1]

Database of genes from NCBI RefSeq genomes

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GeneIDi
4901

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:4901

UCSC genome browser

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UCSCi
uc001wlo.4 human [P54845-1]

Keywords - Coding sequence diversityi

Alternative splicing

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross_references_section">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>Web resourcesi

Mutations of the NRL gene

Retina International's Scientific Newsletter

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
M95925 mRNA Translation: AAA96828.1
M81840 mRNA Translation: AAA59948.1
U95012 Genomic DNA Translation: AAB82768.1
BX161381 mRNA Translation: CAD61873.1
BX161522 mRNA Translation: CAD61954.1
AB593101 mRNA Translation: BAJ84041.1
AB593102 mRNA Translation: BAJ84042.1
AB593103 mRNA Translation: BAJ84043.1
AB593104 mRNA Translation: BAJ84044.1
AB593105 mRNA Translation: BAJ84045.1
AB593106 mRNA Translation: BAJ84046.1
BT006942 mRNA Translation: AAP35588.1
AL136295 Genomic DNA No translation available.
CH471078 Genomic DNA Translation: EAW66116.1
BC012395 mRNA Translation: AAH12395.1
CCDSiCCDS9608.1 [P54845-1]
PIRiA41796
RefSeqiNP_006168.1, NM_006177.3 [P54845-1]
XP_005267765.1, XM_005267708.4
XP_005267766.1, XM_005267709.3 [P54845-1]
XP_005267767.1, XM_005267710.3
XP_011535104.1, XM_011536802.1 [P54845-1]
XP_011535106.1, XM_011536804.2 [P54845-1]
XP_011535107.1, XM_011536805.2 [P54845-1]
UniGeneiHs.652297

3D structure databases

ProteinModelPortaliP54845
SMRiP54845
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi110957, 8 interactors
ELMiP54845
IntActiP54845, 3 interactors
STRINGi9606.ENSP00000380193

PTM databases

iPTMnetiP54845
PhosphoSitePlusiP54845

Polymorphism and mutation databases

BioMutaiNRL

Proteomic databases

PaxDbiP54845
PeptideAtlasiP54845
PRIDEiP54845
ProteomicsDBi56738

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
4901
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000396995; ENSP00000380191; ENSG00000129535 [P54845-2]
ENST00000396997; ENSP00000380193; ENSG00000129535 [P54845-1]
ENST00000397002; ENSP00000380197; ENSG00000129535 [P54845-1]
ENST00000560550; ENSP00000452966; ENSG00000129535 [P54845-2]
ENST00000561028; ENSP00000454062; ENSG00000129535 [P54845-1]
ENST00000642485; ENSP00000494928; ENSG00000285493 [P54845-2]
ENST00000643394; ENSP00000495627; ENSG00000285493 [P54845-1]
ENST00000645740; ENSP00000495155; ENSG00000285493 [P54845-2]
ENST00000646526; ENSP00000496316; ENSG00000285493 [P54845-1]
ENST00000647376; ENSP00000496275; ENSG00000285493 [P54845-1]
GeneIDi4901
KEGGihsa:4901
UCSCiuc001wlo.4 human [P54845-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
4901
DisGeNETi4901
EuPathDBiHostDB:ENSG00000129535.12

GeneCards: human genes, protein and diseases

More...
GeneCardsi
NRL
GeneReviewsiNRL
HGNCiHGNC:8002 NRL
HPAiCAB026066
HPA064599
MalaCardsiNRL
MIMi162080 gene
613750 phenotype
neXtProtiNX_P54845
OpenTargetsiENSG00000129535
Orphaneti791 Retinitis pigmentosa
PharmGKBiPA31781

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG4196 Eukaryota
ENOG41102C7 LUCA
GeneTreeiENSGT00940000161862
HOGENOMiHOG000261683
HOVERGENiHBG000313
InParanoidiP54845
KOiK09038
OMAiEGPHGYY
OrthoDBi1395389at2759
PhylomeDBiP54845
TreeFamiTF325689

Enzyme and pathway databases

SignaLinkiP54845
SIGNORiP54845

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...
ChiTaRSi
NRL human

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
NRL_(gene)

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...
GenomeRNAii
4901

Protein Ontology

More...
PROi
PR:P54845

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000129535 Expressed in 102 organ(s), highest expression level in pigmented layer of retina
CleanExiHS_NRL
ExpressionAtlasiP54845 baseline and differential
GenevisibleiP54845 HS

Family and domain databases

InterProiView protein in InterPro
IPR004827 bZIP
IPR004826 bZIP_Maf
IPR013592 Maf_TF_N
IPR028575 Nrl
IPR008917 TF_DNA-bd_sf
IPR024874 Transciption_factor_Maf_fam
PANTHERiPTHR10129 PTHR10129, 1 hit
PTHR10129:SF24 PTHR10129:SF24, 1 hit
PfamiView protein in Pfam
PF03131 bZIP_Maf, 1 hit
PF08383 Maf_N, 1 hit
SMARTiView protein in SMART
SM00338 BRLZ, 1 hit
SUPFAMiSSF47454 SSF47454, 1 hit
PROSITEiView protein in PROSITE
PS50217 BZIP, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiNRL_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: P54845
Secondary accession number(s): A8MX14, Q53XD0
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 1, 1996
Last sequence update: October 1, 1996
Last modified: January 16, 2019
This is version 168 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. Human chromosome 14
    Human chromosome 14: entries, gene names and cross-references to MIM
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