LOCUS       NM_001354768            3543 bp    mRNA    linear   PRI 05-OCT-2024
DEFINITION  Homo sapiens neural retina leucine zipper (NRL), transcript variant
            2, mRNA.
ACCESSION   NM_001354768 XM_005267710
VERSION     NM_001354768.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3543)
  AUTHORS   El-Asrag,M.E., Corton,M., McKibbin,M., Avila-Fernandez,A.,
            Mohamed,M.D., Blanco-Kelly,F., Toomes,C., Inglehearn,C.F., Ayuso,C.
            and Ali,M.
  TITLE     Novel homozygous mutations in the transcription factor NRL cause
            non-syndromic retinitis pigmentosa
  JOURNAL   Mol Vis 28, 48-56 (2022)
   PUBMED   35693422
  REMARK    GeneRIF: Novel homozygous mutations in the transcription factor NRL
            cause non-syndromic retinitis pigmentosa.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 3543)
  AUTHORS   Cuevas,E., Holder,D.L., Alshehri,A.H., Treguier,J., Lakowski,J. and
            Sowden,J.C.
  TITLE     NRL-/- gene edited human embryonic stem cells generate
            rod-deficient retinal organoids enriched in S-cone-like
            photoreceptors
  JOURNAL   Stem Cells 39 (4), 414-428 (2021)
   PUBMED   33400844
  REMARK    GeneRIF: NRL(-/-) gene edited human embryonic stem cells generate
            rod-deficient retinal organoids enriched in S-cone-like
            photoreceptors.
REFERENCE   3  (bases 1 to 3543)
  AUTHORS   Kallman,A., Capowski,E.E., Wang,J., Kaushik,A.M., Jansen,A.D.,
            Edwards,K.L., Chen,L., Berlinicke,C.A., Joseph Phillips,M.,
            Pierce,E.A., Qian,J., Wang,T.H., Gamm,D.M. and Zack,D.J.
  TITLE     Investigating cone photoreceptor development using patient-derived
            NRL null retinal organoids
  JOURNAL   Commun Biol 3 (1), 82 (2020)
   PUBMED   32081919
  REMARK    GeneRIF: Investigating cone photoreceptor development using
            patient-derived NRL null retinal organoids.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 3543)
  AUTHORS   Swaroop,A., Kim,D. and Forrest,D.
  TITLE     Transcriptional regulation of photoreceptor development and
            homeostasis in the mammalian retina
  JOURNAL   Nat Rev Neurosci 11 (8), 563-576 (2010)
   PUBMED   20648062
  REMARK    Review article
REFERENCE   5  (bases 1 to 3543)
  AUTHORS   Farjo,Q., Jackson,A., Pieke-Dahl,S., Scott,K., Kimberling,W.J.,
            Sieving,P.A., Richards,J.E. and Swaroop,A.
  TITLE     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
  JOURNAL   Genomics 45 (2), 395-401 (1997)
   PUBMED   9344665
REFERENCE   6  (bases 1 to 3543)
  AUTHORS   Kumar,R., Chen,S., Scheurer,D., Wang,Q.L., Duh,E., Sung,C.H.,
            Rehemtulla,A., Swaroop,A., Adler,R. and Zack,D.J.
  TITLE     The bZIP transcription factor Nrl stimulates rhodopsin promoter
            activity in primary retinal cell cultures
  JOURNAL   J Biol Chem 271 (47), 29612-29618 (1996)
   PUBMED   8939891
REFERENCE   7  (bases 1 to 3543)
  AUTHORS   Rehemtulla,A., Warwar,R., Kumar,R., Ji,X., Zack,D.J. and Swaroop,A.
  TITLE     The basic motif-leucine zipper transcription factor Nrl can
            positively regulate rhodopsin gene expression
  JOURNAL   Proc Natl Acad Sci U S A 93 (1), 191-195 (1996)
   PUBMED   8552602
REFERENCE   8  (bases 1 to 3543)
  AUTHORS   Fahim,A.T., Daiger,S.P. and Weleber,R.G.
  TITLE     Nonsyndromic Retinitis Pigmentosa Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301590
REFERENCE   9  (bases 1 to 3543)
  AUTHORS   Yang-Feng,T.L. and Swaroop,A.
  TITLE     Neural retina-specific leucine zipper gene NRL (D14S46E) maps to
            human chromosome 14q11.1-q11.2
  JOURNAL   Genomics 14 (2), 491-492 (1992)
   PUBMED   1427865
REFERENCE   10 (bases 1 to 3543)
  AUTHORS   Swaroop,A., Xu,J.Z., Pawar,H., Jackson,A., Skolnick,C. and
            Agarwal,N.
  TITLE     A conserved retina-specific gene encodes a basic motif/leucine
            zipper domain
  JOURNAL   Proc Natl Acad Sci U S A 89 (1), 266-270 (1992)
   PUBMED   1729696
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL136295.3, HY106550.1 and
            BQ638162.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Oct 21, 2019 this sequence version replaced NM_001354768.2.
            
            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].
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR18074968.4100322.1,
                                           SRR14038197.2659415.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1968968
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000561028.6/ ENSP00000454062.2
            RefSeq Select criteria :: based on manual assertion, conservation
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-26                AL136295.3         95083-95108
            27-535              HY106550.1         2-510
            536-929             BQ638162.1         228-621
            930-3543            AL136295.3         128757-131370
FEATURES             Location/Qualifiers
     source          1..3543
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /map="14q11.2-q12"
     gene            1..3543
                     /gene="NRL"
                     /gene_synonym="D14S46E; NRL-MAF; RP27"
                     /note="neural retina leucine zipper"
                     /db_xref="GeneID:4901"
                     /db_xref="HGNC:HGNC:8002"
                     /db_xref="MIM:162080"
     exon            1..228
                     /gene="NRL"
                     /gene_synonym="D14S46E; NRL-MAF; RP27"
                     /inference="alignment:Splign:2.1.0"
     exon            229..636
                     /gene="NRL"
                     /gene_synonym="D14S46E; NRL-MAF; RP27"
                     /inference="alignment:Splign:2.1.0"
     CDS             256..969
                     /gene="NRL"
                     /gene_synonym="D14S46E; NRL-MAF; RP27"
                     /note="isoform 1 is encoded by transcript variant 2;
                     neural retinal-specific leucine zipper; Maf-family bZIP
                     transcription factor NRL"
                     /codon_start=1
                     /product="neural retina-specific leucine zipper protein
                     isoform 1"
                     /protein_id="NP_001341697.1"
                     /db_xref="CCDS:CCDS9608.1"
                     /db_xref="GeneID:4901"
                     /db_xref="HGNC:HGNC:8002"
                     /db_xref="MIM:162080"
                     /translation="MALPPSPLAMEYVNDFDLMKFEVKREPSEGRPGPPTASLGSTPY
                     SSVPPSPTFSEPGMVGATEGTRPGLEELYWLATLQQQLGAGEALGLSPEEAMELLQGQ
                     GPVPVDGPHGYYPGSPEETGAQHVQLAERFSDAALVSMSVRELNRQLRGCGRDEALRL
                     KQRRRTLKNRGYAQACRSKRLQQRRGLEAERARLAAQLDALRAEVARLARERDLYKAR
                     CDRLTSSGPGSGDPSHLFL"
     exon            637..3543
                     /gene="NRL"
                     /gene_synonym="D14S46E; NRL-MAF; RP27"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1347..1352
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NRL"
                     /gene_synonym="D14S46E; NRL-MAF; RP27"
                     /note="hexamer: ATTAAA"
     polyA_site      1366
                     /gene="NRL"
                     /gene_synonym="D14S46E; NRL-MAF; RP27"
                     /note="major polyA site"
     regulatory      2022..2027
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NRL"
                     /gene_synonym="D14S46E; NRL-MAF; RP27"
                     /note="hexamer: ATTAAA"
     regulatory      2055..2060
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NRL"
                     /gene_synonym="D14S46E; NRL-MAF; RP27"
                     /note="hexamer: AATAAG"
     polyA_site      2065
                     /gene="NRL"
                     /gene_synonym="D14S46E; NRL-MAF; RP27"
     polyA_site      2098
                     /gene="NRL"
                     /gene_synonym="D14S46E; NRL-MAF; RP27"
     regulatory      3487..3492
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NRL"
                     /gene_synonym="D14S46E; NRL-MAF; RP27"
                     /note="hexamer: AATAAA"
     polyA_site      3505
                     /gene="NRL"
                     /gene_synonym="D14S46E; NRL-MAF; RP27"
     regulatory      3514..3519
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NRL"
                     /gene_synonym="D14S46E; NRL-MAF; RP27"
                     /note="hexamer: CATAAA"
     polyA_site      3543
                     /gene="NRL"
                     /gene_synonym="D14S46E; NRL-MAF; RP27"
ORIGIN      
        1 aaccgcccca cgcgagacca cccaccagcc aggagcggtc gcaggacccg cagcggcgcg
       61 aggccttgtt tacaccgact gccgccactg cgttggccaa ccgctcctcc gtcacgcgct
      121 tcgctcgtca cgcatctcgc ggcttcctgg ccggcgggct gcaaacgtca cacgacggcc
      181 ccgccccctt ggccagccaa ctggacagcg gagcacgatg attgataggt gcactcctcc
      241 cagcccagct ccagaatggc cctgcccccc agccccctgg ccatggaata tgtcaatgac
      301 tttgacttga tgaagtttga ggtaaagcgg gaaccctctg agggccgacc tggcccccct
      361 acagcctcac tgggctccac accttacagc tcagtgcctc cttcacccac cttcagtgaa
      421 ccaggcatgg tgggggcaac cgagggcacc cggccaggcc tggaggagct gtactggctg
      481 gctaccctgc agcagcagct gggggctggg gaggcattgg ggctgagtcc tgaagaggcc
      541 atggagctgc tgcagggtca gggcccagtc cctgttgatg ggccccatgg ctactaccca
      601 gggagcccag aggagacagg agcccagcac gtccagctgg cagagcggtt ttccgacgcg
      661 gcgctggtct cgatgtctgt gcgggagcta aaccggcagc tgcggggctg cgggcgcgac
      721 gaggcgctgc ggctgaagca gaggcgccgc acgctgaaga accgcggcta cgcgcaggcc
      781 tgtcgctcca agcggctgca gcagcggcgc gggctggagg ccgagcgcgc ccgcctggcc
      841 gcccagctgg acgcgctgcg ggccgaggtg gcccgcctgg cccgggagcg cgatctctac
      901 aaggctcgct gtgaccggct aacctcgagc ggccccgggt ccggggaccc ctcccacctc
      961 ttcctctgag ccgttcagag caccttgtgg tgtagtgggg gctgggtggg gtggctccgc
     1021 ccaggaggcg gctgcacggt tctctgcatc gttaccagag cgccttctgg tcctagccac
     1081 gccctgtatg accgcgcaaa tatccccaaa gcttttgggt cctcaagtca tgcccgaatt
     1141 tagatgctgg tcattttctg gagaggggtc ccctcccctt acgaacacag aaacccagcc
     1201 cacatgacta gcacgctgag ctctgcaggg accagtgcca ggcactgggg ggtggaagtg
     1261 tggtgacaca gtgaatggga ggtggaggag ggttgcagct cccacctcag tttagttttt
     1321 aattcagggt tttcaacctg taacacatta aagctgtaat tagcaatgag gctgtatttt
     1381 cattctgaag cttgtaacct ccccatttta gcactacaga attttcaaga tttcaatatc
     1441 caacaactag atagattagg acctctatcc gagatgcttt ttccctgccc aaccctgtgg
     1501 ccttcagggc tcagagcagc aaaggcctga agagtgagct ctgggggttg ttggtgtggg
     1561 ttgggagaga gctgtgtgca gaagtctgga aacctgggtc ctagtcccag ctcttccatg
     1621 ggatccccct gtcaccctga gcaaatcagt tgcttcctgg acttgtgtta cttcatctaa
     1681 ttctcatgtg gattggacga cttctgctcc ctttccagtt ctggcatctc cccagtatgg
     1741 aagtcccggt ggtctcccca agaagtcccc aagacaatct cgccaaaggc acctcctatc
     1801 ctgctgcagt ttcccagctg cagcctaggc aggggatgca cagcccaggc gaggaagcct
     1861 ggcttctctg tgagcacata cgtgggtcct cggcagctcc ctccaggctg tctgggcctc
     1921 cagacctgca cagggtgctc ctgccacctc ccacctctct gagggctgag gtgagacttc
     1981 tcctgggatg acaatttgct gagagagtgc agcttttgtg aattaaactt gaagtccagg
     2041 cagaattcta atgcaataag ctaaatgttc ttgcaattta agaagtgttc attctttatc
     2101 cctgcttcag gctactgttt gtgtgtctgt gtgtgggaga gggagagaga gggagagaga
     2161 gagagagcaa gaaaaaggga agtccccacc tggagctggg tggcacatct gttatggaga
     2221 gccaatggaa atggggtgga ggggcaggca ttggaacaga tggatcctcc ccctctcacc
     2281 accaccacca ccaaactcag aagcctcagt ggcccagctc ggcctgtcag tggctatcca
     2341 ggtctcacag tttccatggt aacccagtcc tccagttcag caggctaagg ggagggcaga
     2401 tggggcctct gggcagagca caggcgttgt gctgggagca gccgcctcac gagttactgt
     2461 catctgtcct ctaccggaca taataaatgg gagaagcttt cgggcatggg ggaagaggct
     2521 cccatatgtc cctcttcctt tctaccccct ctctccaccc cctccccagc tgtctcttct
     2581 cttcccatca cagttcttgc tccctctttc ccctcctcta tcccagctca tccctcctcc
     2641 gcttaggagc ctgcaatggg agtcctctcc tccatcgctc tcagaatttc tctcgtctcc
     2701 tctcccttcc ccaccattgg ccactggcca tcctctctgg ctctggattc tctctctgag
     2761 gggctcacag aacctttagc ttctctttct tcatcccctt ccacactcat tgttgaaggg
     2821 agaggatggg gcagggaggg tccttccggg agcccagctc tttttctctc actctaaatt
     2881 tcacctgtgt ctatccttgc ctgccctgga gctgtaattc agacccacta cttttcttgt
     2941 tcacttttct cacctgcatg gcacacaaag acagacagaa ccatccatag acacctgagc
     3001 acacaactag gccacatata cagtaccata cctgggtctc aaaatgatac tcctgggtta
     3061 cctgagtata cttaaaaaaa caaagttgca cactgtggtg attaagagta gtgctttagg
     3121 tggggcgcag tggttcctgc ctgtaatccc aacactttgg gaggccaagg aggaagtttg
     3181 agaccagcct gggcaacata gcgagaaccc tgtcactaca aaaaaataaa ataaaataaa
     3241 ttcagatgta atggcatgca cctggagtcc cacctaccca ggaggctaag gtggaaggat
     3301 aacttgagcc caggagttcg gggatgcagt gagccataat cgtgccactg cattccagcc
     3361 tgggtggcag agtgagaccc tgtttcaagt tgcagttcta ccagtttttt gaccatgggt
     3421 gggttaaaat caagcctcac ttgattgtca gaaaaatggt gaaaataatg gtaaccacct
     3481 actgagaata aatgcattta aataagcact tagcataaag ttgacacatg ctacgtaatg
     3541 ata
//
