 |
 | Services
| |
 |
Aliases & Descriptions for NRL
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc
, and/or 7Ensembl,
8miRBase) About This Section
|
| Aliases |
|---|
| D14S46E 1, 2, 3, 5 | | NRL-MAF 1, 2 | | OTTHUMP00000027969 2 | | OTTHUMP00000164707 2 | | RP27 1, 2, 5 |
| | | Descriptions |
|---|
| neural retina leucine zipper 2 | | neural retinal-specific leucine zipper 2 |
|
| | Search outside databases for aliases for NRL genePrevious GC identifers: GC14M021921 GC14M018336 GC14M022539 |
Summaries for NRL(According to Entrez Gene,
Wikipedia's
Gene Wiki,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
| EntrezGene summary for NRL: This gene encodes a basic motif-leucine zipper transcription factor of the Maf subfamily. The encoded protein is conserved among vertebrates and is a critical intrinsic regulator of photoceptor development and function. Mutations in this gene have been associated with retinitis pigmentosa and retinal degenerative diseases. [provided by RefSeq] UniProtKB/Swiss-Prot: NRL_HUMAN, P54845Function: Transcription factor which regulates the expression of several rod-specific genes, in cluding RHO and PDE6B (By similarity)Gene Wiki entry for NRL |
Genomic Location for NRL
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to
UCSC and
Ensembl,
Transcription factor binding sites according to
SABiosciences) About This Section
| Genomic View: UCSC Golden Path with GeneCards custom track
Transcription factor binding sites upstream to the NRL gene 
Entrez Gene cytogenetic band: 14q11.1-q11.2 Ensembl cytogenetic band: 14q12 HGNC cytogenetic band: 14q11.1-q11.2NRL Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different)
 GeneLoc gene densities for chromosome 14 GeneLoc Exon Structure GeneLoc location for GC14M023619:
(about GC identifiers)
Start:
|
23,619,156 bp from pter |
End:
|
23,654,063 bp from pter |
Size:
|
34,908 bases |
Orientation:
|
minus strand |
RefSeq DNA sequence:- NC_000014.7 NT_026437.11
| Proteins for NRL
(According to
1UniProtKB,
and/or Ensembl,
Phosphorylation sites according to 2Phosphosite,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from Invitrogen,
Millipore,
Sigma-Aldrich,
R&D Systems,
Enzo Life Sciences,
Abnova,
OriGene and/or,
Abcam,
Biochemical Assays by
Invitrogen,
Millipore,
R&D Systems,
Cell Signaling Technology, and/or
Enzo Life Sciences,
Ontologies according to Gene
Ontology Consortium 01 Apr 2009 and
Entrez Gene,
Antibodies by Invitrogen,
Millipore,
Sigma-Aldrich,
R&D Systems,
Cell Signaling Technology,
Abcam,
Abnova, and/or
Novus Biologicals)
About This Section
| UniProtKB/Swiss-Prot: NRL_HUMAN, P54845 (See
protein sequence)Recommended Name: Neural retina-specific leucine zipper protein Size: 237 amino acids; 25940 Da
Subunit: Interacts with FIZ1. This interaction represses transactivation (By similarity)
Subcellular location: NucleusPost-translational modifications:
View phosphorylation sites using PhosphoSite2
REFSEQ proteins: NP_006168.1
ENSEMBL proteins: ENSP00000337023 ENSP00000380197 ENSP00000380191 ENSP00000380193
Human Recombinant Proteins               OriGene Purified Recombinant Human Protein: NRL 
1 Gene Ontology (GO) cellular component term (links to tree view): About this table
Antibodies for NRL: Assays for NRL: | Protein
Domains/ Families for NRL(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
| - Graphical View of Domain Structure for InterPro Entry P54845
ProtoNet protein and cluster: P54845 2 Blocks protein families: IPB004826 Maf transcription factor IPB013592 Maf transcription factor
UniProtKB/Swiss-Prot: NRL_HUMAN, P54845Similarity: Belongs to the bZIP familySimilarity: Contains 1 bZIP domain | Gene Function for NRL
(According to MGI Jun 06 2009, UniProtKB,
IUBMB,and/or Genatlas,
shRNA from
OriGene,
Sigma-Aldrich, RNAi from
Sigma-Aldrich,
RNAi Products,
Clones, and
Q-PCR Products
from Invitrogen,
Millipore,
OriGene, and/or
Abnova,
siRNAs from
Applied Biosystems,
SYBR primers from OriGene,
Cell-based Assays from Millipore,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene.)
About This Section
|               OriGene 29mer shRNA kit in GFP-retroviral vector: NM_006177
Applied Biosystems Silencer® siRNAs for NRL
Sigma-Aldrich siRNA for NRL  Sigma-Aldrich shRNA for NRL  Explore Sigma-Aldrich super-pooled esiRNAs 
              OriGene GFP tagged cDNA clone in CMV expression vector: NM_006177                                  Myc/DDK tagged cDNA clone in CMV expression vector: NM_006177                                  untagged cDNA clone in CMV expression vector: NM_006177 
Primers: Browse
Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers               OriGene genome-wide validated SYBR primer pairs: NM_006177
UniProtKB/Swiss-Prot: NRL_HUMAN, P54845Function: Transcription factor which regulates the expression of several rod-specific genes, in cluding RHO and PDE6B (By similarity)Genatlas biochemistry entry for NRL:neural retinal specific transcript,interacting with CRX,regulating the expression of rhodopsin and other retinal genes,small MAF protein family2 MGI mutant phenotypes (inferred from 1 allele ) (MGI details for Nrl):
3 Gene Ontology (GO) molecular function terms (links to tree view): | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0003700 | transcription factor activity |
IEA | -- | | GO:0003704 | specific RNA polymerase II transcription factor activity |
TAS | 8939891 | | GO:0043565 | sequence-specific DNA binding |
IEA | -- | About this table | Pathways & Interactions for NRL
(Pathways according to Invitrogen
(maps by GeneGo),
Millipore,
Cell Signaling Technology,
Sigma-Aldrich,
KEGG
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Proteins Network according to
SABiosciences,
Interactions according to 1UniProtKB,
2MINT, and/or
3STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene.)
About This Section
|
Gene Network CentralTM Interacting Genes and Proteins Network for NRL 
5/17 Interacting proteins for NRL (ENSP000003370233) via UniProtKB, MINT, and/or STRING (see all 17
)About this table
5/6 Gene Ontology (GO) biological process terms (links to tree view) (see all 6
): | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0006355 | regulation of transcription, DNA-dependent |
IEA | -- | | GO:0007601 | visual perception |
TAS | 1729696 | | GO:0045872 | positive regulation of rhodopsin gene expression |
IEA | -- | | GO:0045944 | positive regulation of transcription from RNA polymerase II promoter |
IEA | -- | | GO:0046548 | retinal rod cell development |
IEA | -- | About this table
|
Drugs & Compounds for NRL(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
Sigma-Aldrich, Tocris Bioscience, and/or
Novoseek and Drugs according to
Enzo Life Sciences and/or
PharmGKB)
About This Section
|
Browse Tocris compounds for NRL 1 Novoseek chemical compound relationship for NRL gene
About this table
|
Transcripts for NRL(GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 219 Homo sapiens; Jun 2 2009) or GenBank, RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
non coding RNAs according to
RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from Invitrogen,
Millipore, and/or
Abnova,
siRNAs from Applied Biosystems,
Sigma-Aldrich,
shRNA from
Sigma-Aldrich,
OriGene,
Tagged/untagged cDNA clones from
OriGene, Expression Assays from Applied Biosystems) About This Section
|               OriGene 29mer shRNA kit in GFP-retroviral vector: NM_006177
Sigma-Aldrich siRNA for NRL  Sigma-Aldrich shRNA for NRL  Explore Sigma-Aldrich super-pooled esiRNAs 
Applied Biosystems Silencer® siRNAs: NM_006177 REFSEQ mRNAs for NRL gene: NM_006177.3
Applied Biosystems TaqMan ® Gene Expression Assays: NM_006177               OriGene GFP tagged cDNA clone in CMV expression vector: NM_006177                                  Myc/DDK tagged cDNA clone in CMV expression vector: NM_006177                                  untagged cDNA clone in CMV expression vector: NM_006177  Additional cDNA sequence: BC012395.1 BT006942.1 BX161381.1 BX161522.1 CR593888.1 M81840.1 M95925.1 12 DOTS entries: DT.312352 DT.95156915 DT.100775953 DT.100026297 DT.100775952 DT.40245910 DT.92419500 DT.97839864 DT.100026299 DT.95180179 DT.100803170 DT.92410643 24/65 AceView cDNA sequences (see all 65
):BC012395 BQ636698 BX161522 BQ638443 CR593888 BU726817 BX161381 BI518894 BQ637234 BQ635992 M81840 BM716767 BM767223 BU739205 BQ637859 BQ639617 BX094113 BQ636909 H84758 BT006942 BM690285 BQ639136 BU170697 BG473227
highest scoring ESTs for NRL:BI549667 M95925 AA020759 AA021554 AA054037 AI133332 AW444720 AW451716 BC012395 BE618859 Unigene Cluster for NRL: Neural retina leucine zipper Hs.652297 [show with all ESTs]Unigene Representative Sequence: BX161381
GeneLoc Exon Structure
4 Ensembl transcripts including schematic representations: ENST00000337947
ENST00000397002
ENST00000396995
ENST00000396997
|
Expression for NRL
(Experimental results according to
1GeneNote
and GNF BioGPS,
probe sets-to-genes annotations according to
2GeneAnnot ,
3GeneTide ,
Sets of similar genes according to GeneDecks,
Electronic Northern calculations according to data from
UniGene (Build 219 Homo sapiens),
SAGE tags according to
CGAP,
plus additional links to
SOURCE, and/or
GNF
BioGPS, and/or
EXPOLDB, and/or
UniProtKB,
Expression Assays from
Applied Biosystems
)
About This Section
| NRL expression in normal and diseased human tissues
Applied Biosystems TaqMan ® Gene Expression Assays for NRL
1 / 2 / 3 5 probe-sets matching NRL gene Data from
(Publications) and GNF BioGPS About these images About these images
CGAP SAGE TAG: ACTAGCACGC
SOURCE GeneReport for Unigene cluster: Hs.652297
Expression variation in blood from EXPOLDB for NRL UniProtKB/Swiss-Prot: NRL_HUMAN, P54845Tissue specificity: Neural retina |
Orthologs for NRL
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
and/or
5MGI Jun 06 2009,
with possible further links to
Flybase
and/or
WormBase,
Gene Trees according to Ensembl)
About This Section
|
Orthologs for NRL gene from 5/7 species (see all 7
)
About this table Species with no ortholog for NRL
ENSEMBL Gene Tree for NRL | Paralogs for NRL(Paralogs according to 1HomoloGene and 2Ensembl, Pseudogenes according to 3Pseudogene.org) About This Section
| Paralogs for NRL gene
- MAFA2 MAF2 MAFB2
|
SNPs/Variants for NRL(According to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE, and
UniProtKB,
Linkage Disequilibrium by HapMap,
Genotyping Reagents from
Applied Biosystems)
About This Section
|
HapMap Linkage Disequilibrium images for NRL (up to first 250kb)
|
Disorders & Mutations for NRL
(in which this Gene is Involved, According to
OMIM, UniProtKB,
Novoseek, PharmGKB,
Genatlas, GeneTests,
Blood group antigen gene mutations by BGMUT,
HGMD, GAD,
HuGE Navigator,
BCGD,
and/or TGDB.)
About This Section
|
OMIM: 162080 UniProtKB/Swiss-Prot: NRL_HUMAN, P54845
Defects in NRL are the cause of retinitis pigmentosa type 27 (RP27) [MIM:162080]. RP leads to degeneration of retinal photoreceptor cells. 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. RP27 inheritance is autosomal dominant6 Novoseek disease relationships for NRL gene
About this table
Human Gene Mutation Database: NRL Genetic Association Database: NRL
|
Medical News for NRL(Possibly Related Articles in
Doctor's Guide)
About This Section
| -- |
Publications for NRL (in
PubMed.
Associations of this gene to articles via
1Novoseek,
2HGNC,
3Entrez Gene,
4UniProtKB/Swiss-Prot,
5UniProtKB/TrEMBL,
6GAD, and/or
7PharmGKB)
About This Section
| 10/43 PubMed articles for NRL gene (see all 43
):- A mutation in NRL is associated with autosomal dominant retinitis pigmentosa. (PubMed id 10192380)2, 3, 4 Bessant D.A....Bhattacharya S.S. (1999)
- Neural retina-specific leucine zipper gene NRL (D14S46E) maps to human chromosome 14q11.1-q11.2. (PubMed id 1427865)1, 2, 3 Yang-Feng T.L. and Swaroop A. (1992)
- Human bZIP transcription factor gene NRL: structure, genomic sequence, and fine linkage mapping at 14q11.2 and negative mutation analysis in patients with retinal degeneration. (PubMed id 9344665)1, 3, 4 Farjo Q.... Swaroop A. (1997)
- A conserved retina-specific gene encodes a basic motif/leucine zipper domain. (PubMed id 1729696)1, 3, 4 Swaroop A.... Agarwal N. (1992)
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)3, 4 Gerhard D.S....Malek J. (2004)
- Novel mutations in the NRL gene and associated clinical findings in patients with dominant retinitis pigmentosa. (PubMed id 11879142)3, 6 DeAngelis M.M....Dryja T.P. (2002)
- Retinopathy mutations in the bZIP protein NRL alter phosphorylation and transcriptional activity. (PubMed id 17335001)1, 3 Kanda A....Swaroop A. (2007)
- Mutation screening of patients with Leber Congenital Amaurosis or the enhanced S-Cone Syndrome reveals a lack of sequence variations in the NRL gene. (PubMed id 12552256)1, 3 Acar C....Swaroop A. (2003)
- Mutation analysis of NR2E3 and NRL genes in enhanced S cone syndrome. (PubMed id 15459973)1, 3 Wright A.F....Swaroop A. (2004)
- Multiple phosphorylated isoforms of NRL are expressed in rod photoreceptors. (PubMed id 11477108)1, 3 Swain P.K....Swaroop A. (2001)
|
Search for NRL
(in PubMed,
OMIM, and NCBI Bookshelf) About This Section
|
|
Genome Databases showing NRL
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
and/or
H-InvDB)
About This Section
|
| Other Databases showing NRL
(According to HUGE)
About This Section
| -- |
Specialized Databases showing NRL(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL, Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot) About This Section
|
| Name | Description |
| Mutations of the NRL gene | http://www.retina-international.com/sci-news/nrlmut.htm |
|
| | | About This Section
| --
| Services for NRL(Reagents available from Applied Biosystems, Antibodies and assays by Cell
Signaling Technology, Abcam, Novus Biologicals, Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich, Enzo Life Sciences, and/or Tocris Bioscience) About This Section
| 
 Products for NRL:

 | |
 | | | | |
|
 |  |  |
| | Recombinant Proteins (NRL) | | Antibodies (NRL) |
| | | Search Tocris compounds for NRL |
|
 |
 | | | |
GeneCards Homepage - Last full update: 2 Jul 2009
Incremental update: 13 Oct 2009
|