GenTIGSA Gene Database on Rare Genetic Disorders

Neural retina leucine zipper (NRL) Associated conditions:  1. Retinitis pigmentosa 
mRNA Information: Transcript Variants and Protein Isoforms
SNo. Status mRNA accession Protein accession Genomic DNA accession (Chromosome) mRNA location on genomic DNA Assembly UniProtkb ID
1 REVIEWED NM_001354768.3 NP_001341697.1 NC_000014.9 (24078661..24114948, complement) Reference GRCh38.p14 Primary Assembly -
2 REVIEWED NM_001354768.3 NP_001341697.1 NW_018654722.1 (379639..415926, complement) Reference GRCh38.p14 PATCHES -
3 REVIEWED NM_001354769.1 NP_001341698.1 NC_000014.9 (24078661..24114948, complement) Reference GRCh38.p14 Primary Assembly -
4 REVIEWED NM_001354769.1 NP_001341698.1 NW_018654722.1 (379639..415926, complement) Reference GRCh38.p14 PATCHES -
5 REVIEWED NM_001354770.2 NP_001341699.1 NC_000014.9 (24078661..24114948, complement) Reference GRCh38.p14 Primary Assembly -
6 REVIEWED NM_001354770.2 NP_001341699.1 NW_018654722.1 (379639..415926, complement) Reference GRCh38.p14 PATCHES -
7 REVIEWED NM_006177.5 NP_006168.1 NC_000014.9 (24078661..24114948, complement) Reference GRCh38.p14 Primary Assembly -
8 REVIEWED NM_006177.5 NP_006168.1 NW_018654722.1 (379639..415926, complement) Reference GRCh38.p14 PATCHES -

Transcript variants arise from alternative splicing during gene expression, producing multiple mRNA transcripts from a single gene, each encoding distinct protein isoforms.

PubMed Links for Transcript Variants (Isoforms)
Link 149 reference articles

Variant Information Neural retina leucine zipper (NRLMutation Visualization Dashboard: Pathogenic variant distribution chart
ClinVar variants:Revealing mutagenic patterns

GO Term of Neural retina leucine zipper (NRL)
SNo. Reported in speceis Evidence Qualifier GO term Category Pubmed Link
1Homo sapiensISAlocated_inchromatinComponent
2Homo sapiensIBAenablesRNA polymerase II cis-regulatory region sequence-specific DNA bindingFunction
3Homo sapiensIDAenablesRNA polymerase II cis-regulatory region sequence-specific DNA bindingFunction8552602 17335001 
4Homo sapiensIBAenablesDNA-binding transcription factor activity, RNA polymerase II-specificFunction
5Homo sapiensISAenablesDNA-binding transcription factor activity, RNA polymerase II-specificFunction
6Homo sapiensIDAenablesDNA-binding transcription activator activity, RNA polymerase II-specificFunction8552602 
7Homo sapiensIMPenablesDNA-binding transcription activator activity, RNA polymerase II-specificFunction17335001 
8Homo sapiensIEAenablesDNA bindingFunction
9Homo sapiensTASenablesDNA bindingFunction1729696 
10Homo sapiensIEAenablesDNA-binding transcription factor activityFunction
11Homo sapiensIPIenablesprotein bindingFunction10887186 15028672 23956131 
12Homo sapiensIBAis_active_innucleusComponent
13Homo sapiensIDAlocated_innucleusComponent11477108 17335001 
14Homo sapiensIEAlocated_innucleusComponent
15Homo sapiensTASlocated_innucleusComponent8939891 
16Homo sapiensIDAlocated_innucleoplasmComponent
17Homo sapiensIDAlocated_incytoplasmComponent11477108 
18Homo sapiensIEAlocated_incytoplasmComponent
19Homo sapiensIEAinvolved_inregulation of DNA-templated transcriptionProcess
20Homo sapiensIBAinvolved_inregulation of transcription by RNA polymerase IIProcess
21Homo sapiensIEAinvolved_invisual perceptionProcess
22Homo sapiensTASinvolved_invisual perceptionProcess1729696 
23Homo sapiensIPIenablesleucine zipper domain bindingFunction10887186 
24Homo sapiensIDAinvolved_inpositive regulation of transcription by RNA polymerase IIProcess8552602 
25Homo sapiensIEAinvolved_inpositive regulation of transcription by RNA polymerase IIProcess
26Homo sapiensIMPinvolved_inpositive regulation of transcription by RNA polymerase IIProcess17335001 21981118 
27Homo sapiensTASinvolved_inpositive regulation of transcription by RNA polymerase IIProcess8939891 
28Homo sapiensIBAinvolved_inretinal rod cell developmentProcess
29Homo sapiensIDAenablessequence-specific double-stranded DNA bindingFunction28473536 
30Homo sapiensIEAenablespromoter-specific chromatin bindingFunction