NRL - neural retina leucine zipper Gene

Also Known as RP27; D14S46E; NRL-MAF

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 4901

About NRL

Cytogenetic location: 14q11.2-q12 Genomic coordinates (GRCh38): 14:24,078,662-24,114,949 (from NCBI)

This gene has 6 transcripts (splice variants), 1 gene allele, 175 orthologues, 6 paralogues and is associated with 4 phenotypes. Ubiquitous expression in duodenum (RPKM 1.2), small intestine (RPKM 1.0) and 25 other tissues.

Summary

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, Jul 2008]

NRL Products (4)

mRNA	Protein	Name
NM_001354768.3	NP_001341697.1	neural retina-specific leucine zipper protein isoform 1
NM_001354769.1	NP_001341698.1	neural retina-specific leucine zipper protein isoform 1
NM_001354770.2	NP_001341699.1	neural retina-specific leucine zipper protein isoform 2
NM_006177.5	NP_006168.1	neural retina-specific leucine zipper protein isoform 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Verweise	Source
enables DNA-binding transcription activator activity, RNA polymerase II-specific	IDA IDA: Inferred from direct assay	8552602	GOA
enables DNA-binding transcription activator activity, RNA polymerase II-specific	IMP IMP: Inferred from mutant phenotype	17335001	GOA
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA IDA: Inferred from direct assay	8552602	GOA
enables leucine zipper domain binding	IPI IPI: Inferred from physical interaction	10887186	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	10887186	GOA
enables sequence-specific double-stranded DNA binding	IDA IDA: Inferred from direct assay	28473536	GOA

Biological Process GO Annotation	Evidence	Verweise	Source
involved in positive regulation of transcription by RNA polymerase II	IDA IDA: Inferred from direct assay	8552602	GOA
involved in positive regulation of transcription by RNA polymerase II	IMP IMP: Inferred from mutant phenotype	17335001	GOA

Cellular Component GO Annotation	Evidence	Verweise	Source
located in cytoplasm	IDA IDA: Inferred from direct assay	11477108	GOA
located in nucleus	IDA IDA: Inferred from direct assay	11477108	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

NRL Protein Structure

Maf_N

bZIP_Maf

0
100
200
237 a.a.

Protein Preferred Names	Protein Names
neural retina-specific leucine zipper protein	neural retinal-specific leucine zipper

NRL Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Verweise
Cross	NRL	P54845	CRX	Bos taurus	Q9XSK0	Pull Down	10887186
Cross	NRL	P54845	CRX	Bos taurus	Q9XSK0	Pull Down	15028672
Cross	NRL	P54845	CRX	Bos taurus	Q9XSK0	Y2H	10887186

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Retinitis Pigmentosa 27	RP27 Retinal Degeneration, Autosomal Recessive, Clumped Pigment Type Retinal Degeneration Autosomal Recessive Clumped Pigment Type RDCP Clumped Pigmentary Retinal Degeneration Retinitis Pigmentosa, Type 27
Enhanced S-Cone Syndrome	Goldmann-Favre Syndrome ESCS Favre Hyaloideoretinal Degeneration Retinoschisis With Early Hemeralopia Retinoschisis With Early Nyctalopia Enhanced S Cone Syndrome S-Cone Syndrome, Enhanced
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial	Pck2 Deficiency Phosphoenolpyruvate Carboxykinase 2 Deficiency PCKDM Pepck2 Deficiency Pepck Deficiency, Mitochondrial Pepck 2 Deficiency Pepck2 Mitochondrial Phosphoenolpyruvate Carboxykinase Deficiency M-PEPCKD
Retinitis Pigmentosa	RP Rod-Cone Dystrophy Autosomal Recessive Retinitis Pigmentosa Non-Syndromic Retinitis Pigmentosa Pericentral Pigmentary Retinopathy Pigmentary Retinopathy Tapetoretinal Degeneration Rcd Retinitis Pigmentosa Autosomal Recessive ARRP Retinitis Pigmentosa, Autosomal Recessive Retinitis Pigmentosa 1
Cone-Rod Dystrophy 2	Cone-Rod Dystrophy CORD2 Cone-Rod Retinal Dystrophy Rcrd2 Cone-Rod Retinal Dystrophy 2 Crd2 Cord Crd Retinal Cone-Rod Dystrophy Cone-Rod Retinal Dystrophy-2 Retinal Cone-Rod Dystrophy 2 Tapetoretinal Degeneration Cone-Rod Degeneration Cone Rod Dystrophy Dystrophy, Cone-Rod Dystrophy, Cone-Rod, Type 2 Retinitis Pigmentosa Retinitis Pigmentosa 2 Progressive Cone-Rod Dystrophy
Retinal Degeneration	Degeneration Of Retina
Retinitis
Jugular Foramen Meningioma	Meningioma Of The Jugular Foramen
Kunjin Encephalitis
Clivus Meningioma	Meningioma Of The Clivus
Macular Degeneration, Age-Related, 7	Age Related Macular Degeneration 7 ARMD7 Macular Degeneration, Age-Related, Neovascular Type Susceptibility To Neovascular Type Of Age-Related Macular Degeneration Macular Degeneration, Age-Related, Type 7
Night Blindness	Nyctalopia
Fundus Dystrophy	Retinal Dystrophy Retinal Dystrophies Dystrophy, Retinal
Pineal Region Meningioma	Pineal Meningioma
Retinoschisis 1, X-Linked, Juvenile	Retinoschisis X-Linked Retinoschisis X-Linked Juvenile Retinoschisis RS1 XLRS1 X-Linked Juvenile Retinoschisis 1 Xlrs Retinoschisis, X-Linked Rs Congenital X-Linked Retinoschisis Degenerative Retinoschisis Juvenile Retinoschisis Xjr Retinoschisis Juvenile X-Linked 1 Retinoschisis, Juvenile, X-Linked Retinoschisis, Degenerative
Retinitis Pigmentosa 9	RP9 Retinitis Pigmentosa-9 Retinitis Pigmentosa, Type 9
Retinitis Pigmentosa 1	RP1 Retinitis Pigmentosa-1 Retinitis Pigmentosa, Type 1
Leber Plus Disease	Leber Congenital Amaurosis Lca Leber'S Amaurosis Leber'S Disease Amaurosis Congenita Of Leber Amaurosis Congenita Of Leber, Type 1 Lhon Plus Disease Congenital Absence Of The Rods And Cones Congenital Retinal Blindness Crb Congenital Amaurosis Of Retinal Origin Leber'S Congenital Amaurosis Leber Congenital Amaurosis 1 Leber'S Congenital Tapetoretinal Degeneration Leber'S Congenital Tapetoretinal Dysplasia Lca1 Leber Congenital Amaurosis Type 1 Retinal Blindness, Congenital Amaurosis, Leber Congenital Dysgenesis Neuroepithelialis Retinae Hereditary Epithelial Dysplasia Of Retina Hereditary Retinal Aplasia Heredoretinopathia Congenitalis Leber Abiotrophy Leber Congenital Tapetoretinal Degeneration Lebers Congenital Amaurosis Optic Atrophy, Hereditary, Leber
Latex Allergy
Macular Degeneration, Age-Related, 1	Macular Degeneration Age-Related Macular Degeneration Macular Degeneration, Age-Related Age Related Macular Degeneration Age Related Macular Degeneration 1 ARMD1 Senile Macular Degeneration Maculopathy, Age-Related, 1 Macular Degeneration, Age-Related, Reduced Risk Of Age Related Maculopathy 1 Age Related Maculopathies Age Related Maculopathy Senile Macular Retinal Degeneration Macular Degeneration Of Retina Age-Related Maculopathy Amd Armd Age-Related Maculopathy, Susceptibility To Maculopathy Age-Related Macular Degeneration, Age-Related, 1, Susceptibility To Maculopathy, Age-Related Macular Degeneration, Age-Related, Type 1 Macular Degeneration, Age-Related, 2
Eye Degenerative Disease
Campylobacteriosis	Campylobacter Infections Campylobacter Infection Enteric Campylobacteriosis
Multidrug-Resistant Tuberculosis	Tuberculosis, Multidrug-Resistant Tuberculosis Multidrug-Resistant
Achromatopsia	Achm Rod Monochromatism Total Color Blindness Rod Monochromacy Monochromatism Achromatism Complete Or Incomplete Color Blindness Pingelapese Blindness Achromatopsia 1 Achromatopsia 2 Achromatopsia 3
Stargardt Disease	Stargardt Disease 1 Stargardt Macular Dystrophy Stargardt Disease-1 Juvenile Onset Macular Degeneration Stargardt Macular Degeneration Juvenile Macular Degeneration Macular Dystrophy With Flecks, Type 1 Stgd Fundus Flavimaculatus Stargardt 1 Stargardts Disease
Degeneration Of Macula And Posterior Pole	Degeneration Of Macula And Posterior Pole Of Retina Degeneration Of Macula Or Posterior Pole Macular Degeneration Nos Degenerative Disorder Of Macula Drusen Macular Degeneration Posterior Pole Macular Degeneration Of Eye Macular Eye Degeneration Macular Degeneration Of Retina, Unspecified Pseudohole Degeneration Of Macula Of Retina
Cone Dystrophy	Retinal Cone Dystrophy Dystrophy, Cone Cone Dystrophy 3
Leber Congenital Amaurosis 1	LCA1 Amaurosis Congenita Of Leber I Lca Retinal Blindness, Congenital Crb Leber Congenital Amaurosis Type I Leber Congenital Amaurosis, Type 1 Amaurosis Congenita Of Leber, Type 1
Congenital Stationary Night Blindness	Night Blindness, Congenital Stationary Congenital Essential Nyctalopia Oguchi Disease Blindness, Night, Stationary, Congenital
Gyrate Atrophy Of Choroid And Retina	Gyrate Atrophy Ornithine Aminotransferase Deficiency HOGA Hyperornithinemia With Gyrate Atrophy Of Choroid And Retina Oat Deficiency Okt Deficiency Hyperornithinemia Ornithine Keto Acid Aminotransferase Deficiency Ornithine-Delta-Aminotransferase Deficiency Gyrate Atrophy Of The Choroid And Retina GACR Gyrate Atrophy Of Choroid And Retina With Or Without Ornithinemia Gyrate Atrophy Of The Retina Ornithinemia With Gyrate Atrophy Ornithinemia Fuchs Atrophia Gyrata Chorioideae Et Retinae Hyperornithinemia-Gyrate Atrophy Of Choroid And Retina Syndrome Gyrate Atrophy Of The Choroid And/Or Retina Girate Atrophy Of The Retina Ornithine Ketoacid Aminotransferase Deficiency Atrophy, Gyrate, Of Choroid And Retina
Usher Syndrome	Deafness-Retinitis Pigmentosa Syndrome Dystrophia Retinae Pigmentosa-Dysostosis Syndrome Graefe-Usher Syndrome Hallgren Syndrome Usher'S Syndrome Retinitis Pigmentosa-Deafness Syndrome Retinitis Pigmentosa-Hearing Loss Syndrome Ush Usher Syndromes
Eye Disease	Eye Diseases Abnormality Of The Eye Toxoplasma Oculopathy

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Clinical Phase
Pre-clinical Phase

Clinical Phase

Bioactive Molecules (1)

Art. -Nr.	Produktname	Wirkung	Reinheit	Phase
HY-105047	Cholyl-Lys-fluorescein		98.14%	Phase 3

Pre-clinical Phase

Bioactive Molecules (9)

Art. -Nr.	Produktname	Wirkung	Reinheit	Rare Diseases
HY-162596	NRL-1049	Inhibitor	99.96%	Unkown
HY-126432	NRL-1049 dihydrochloride	Inhibitor	99.20%	Unkown
HY-RS16572	Lcn2 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-126432S	(Rac)-NRL-1049-d5 dihydrochloride		/	Unkown
HY-162596A	(Rac)-NRL-1049 dihydrochloride	Inhibitor	/	Unkown
HY-RS09575	NRL Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-N15829	Cholyl-Lys-fluorescein disodium		/	Unkown
HY-RS21286	Nrl Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS27805	Nrl Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	NRL	VGNC	VGNC:75530
Canis familiaris	NRL	VGNC	VGNC:43972
Felis catus	NRL	VGNC	VGNC:80905
Bos taurus	NRL	VGNC	VGNC:55129
Rattus norvegicus	NRL	RGD	RGD:1305197
Mus musculus	NRL	MGD	MGI:102567
Others	NRL	NCBI