LOCUS       NM_138454                918 bp    mRNA    linear   PRI 08-JUN-2024
DEFINITION  Homo sapiens nucleoredoxin like 1 (NXNL1), mRNA.
ACCESSION   NM_138454
VERSION     NM_138454.2
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 918)
  AUTHORS   Leveillard,T. and Ait-Ali,N.
  TITLE     Cell Signaling with Extracellular Thioredoxin and Thioredoxin-Like
            Proteins: Insight into Their Mechanisms of Action
  JOURNAL   Oxid Med Cell Longev 2017, 8475125 (2017)
   PUBMED   29138681
  REMARK    Review article
REFERENCE   2  (bases 1 to 918)
  AUTHORS   Ait-Ali,N., Fridlich,R., Millet-Puel,G., Clerin,E., Delalande,F.,
            Jaillard,C., Blond,F., Perrocheau,L., Reichman,S., Byrne,L.C.,
            Olivier-Bandini,A., Bellalou,J., Moyse,E., Bouillaud,F., Nicol,X.,
            Dalkara,D., van Dorsselaer,A., Sahel,J.A. and Leveillard,T.
  TITLE     Rod-derived cone viability factor promotes cone survival by
            stimulating aerobic glycolysis
  JOURNAL   Cell 161 (4), 817-832 (2015)
   PUBMED   25957687
  REMARK    GeneRIF: Study shows that RdCVF acts through binding to Basigin-1
            (BSG1), a transmembrane protein expressed specifically by
            photoreceptors. BSG1 binds to the glucose transporter GLUT1,
            resulting in increased glucose entry into cones.
REFERENCE   3  (bases 1 to 918)
  AUTHORS   Brennan,L.A., Lee,W. and Kantorow,M.
  TITLE     TXNL6 is a novel oxidative stress-induced reducing system for
            methionine sulfoxide reductase a repair of alpha-crystallin and
            cytochrome C in the eye lens
  JOURNAL   PLoS One 5 (11), e15421 (2010)
   PUBMED   21079812
  REMARK    GeneRIF: Data suggest a critical role for TXNL6 in MsrA repair of
            essential lens proteins under oxidative stress conditions and that
            TXNL6 is important for MsrA defense protection against cataract.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 918)
  AUTHORS   Lambard,S., Reichman,S., Berlinicke,C., Niepon,M.L., Goureau,O.,
            Sahel,J.A., Leveillard,T. and Zack,D.J.
  TITLE     Expression of rod-derived cone viability factor: dual role of CRX
            in regulating promoter activity and cell-type specificity
  JOURNAL   PLoS One 5 (10), e13075 (2010)
   PUBMED   20949100
  REMARK    GeneRIF: regulation of the Nucleoredoxin-like genes involves a CRX
            responsive element that can act as both as a positive regulator of
            promoter activity and as a modulator of cell-type specificity
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 918)
  AUTHORS   Reichman,S., Kalathur,R.K., Lambard,S., Ait-Ali,N., Yang,Y.,
            Lardenois,A., Ripp,R., Poch,O., Zack,D.J., Sahel,J.A. and
            Leveillard,T.
  TITLE     The homeobox gene CHX10/VSX2 regulates RdCVF promoter activity in
            the inner retina
  JOURNAL   Hum Mol Genet 19 (2), 250-261 (2010)
   PUBMED   19843539
  REMARK    GeneRIF: CHX10 regulates RdCVF promoter activity in the inner
            retina.
REFERENCE   6  (bases 1 to 918)
  AUTHORS   Bin,J., Madhavan,J., Ferrini,W., Mok,C.A., Billingsley,G. and
            Heon,E.
  TITLE     BBS7 and TTC8 (BBS8) mutations play a minor role in the mutational
            load of Bardet-Biedl syndrome in a multiethnic population
  JOURNAL   Hum Mutat 30 (7), E737-E746 (2009)
   PUBMED   19402160
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   7  (bases 1 to 918)
  AUTHORS   Wang,X.W., Tan,B.Z., Sun,M., Ho,B. and Ding,J.L.
  TITLE     Thioredoxin-like 6 protects retinal cell line from photooxidative
            damage by upregulating NF-kappaB activity
  JOURNAL   Free Radic Biol Med 45 (3), 336-344 (2008)
   PUBMED   18474255
  REMARK    GeneRIF: TXNL6 probably protects retinal cells from photooxidative
            damage-induced apoptosis via upregulation of NF-kappaB activity
REFERENCE   8  (bases 1 to 918)
  AUTHORS   Roni,V., Carpio,R. and Wissinger,B.
  TITLE     Mapping of transcription start sites of human retina expressed
            genes
  JOURNAL   BMC Genomics 8, 42 (2007)
   PUBMED   17286855
  REMARK    Publication Status: Online-Only
REFERENCE   9  (bases 1 to 918)
  AUTHORS   Hanein,S., Perrault,I., Gerber,S., Dollfus,H., Dufier,J.L.,
            Feingold,J., Munnich,A., Bhattacharya,S., Kaplan,J., Sahel,J.A.,
            Rozet,J.M. and Leveillard,T.
  TITLE     Disease-associated variants of the rod-derived cone viability
            factor (RdCVF) in Leber congenital amaurosis. Rod-derived cone
            viability variants in LCA
  JOURNAL   Adv Exp Med Biol 572, 9-14 (2006)
   PUBMED   17249548
  REMARK    GeneRIF: RdCVF variants have roles in leber congenital amaurosis
REFERENCE   10 (bases 1 to 918)
  AUTHORS   Leveillard,T., Mohand-Said,S., Lorentz,O., Hicks,D., Fintz,A.C.,
            Clerin,E., Simonutti,M., Forster,V., Cavusoglu,N., Chalmel,F.,
            Dolle,P., Poch,O., Lambrou,G. and Sahel,J.A.
  TITLE     Identification and characterization of rod-derived cone viability
            factor
  JOURNAL   Nat Genet 36 (7), 755-759 (2004)
   PUBMED   15220920
  REMARK    GeneRIF: is a truncated thioredoxin-like protein specifically
            expressed by photoreceptors. The identification of this protein
            offers new treatment possibilities for retinitis pigmentosa
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC010319.10 and BC014127.1.
            
            On Jun 2, 2019 this sequence version replaced NM_138454.1.
            
            Summary: Retinitis pigmentosa (RP) is a disease that leads to
            blindness by degeneration of cone photoreceptors. Rods produce
            factors required for cone viability. The protein encoded by this
            gene is one of those factors and is similar to a truncated form of
            thioredoxin. This gene has been proposed to have therapeutic value
            against RP. [provided by RefSeq, Dec 2015].
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC014127.1, BQ639327.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2142680, SAMEA2145313
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000301944.3/ ENSP00000305631.2
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-10                AC010319.10        30662-30671
            11-918              BC014127.1         1-908
FEATURES             Location/Qualifiers
     source          1..918
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19p13.11"
     gene            1..918
                     /gene="NXNL1"
                     /gene_synonym="RDCVF; TXNL6"
                     /note="nucleoredoxin like 1"
                     /db_xref="GeneID:115861"
                     /db_xref="HGNC:HGNC:25179"
                     /db_xref="MIM:608791"
     exon            1..383
                     /gene="NXNL1"
                     /gene_synonym="RDCVF; TXNL6"
                     /inference="alignment:Splign:2.1.0"
     CDS             58..696
                     /gene="NXNL1"
                     /gene_synonym="RDCVF; TXNL6"
                     /note="rod-derived cone viability factor; thioredoxin-like
                     6; thioredoxin-like protein 6"
                     /codon_start=1
                     /product="nucleoredoxin-like protein 1"
                     /protein_id="NP_612463.1"
                     /db_xref="CCDS:CCDS12360.1"
                     /db_xref="GeneID:115861"
                     /db_xref="HGNC:HGNC:25179"
                     /db_xref="MIM:608791"
                     /translation="MASLFSGRILIRNNSDQDELDTEAEVSRRLENRLVLLFFGAGAC
                     PQCQAFVPILKDFFVRLTDEFYVLRAAQLALVYVSQDSTEEQQDLFLKDMPKKWLFLP
                     FEDDLRRDLGRQFSVERLPAVVVLKPDGDVLTRDGADEIQRLGTACFANWQEAAEVLD
                     RNFQLPEDLEDQEPRSLTECLRRHKYRVEKAARGGRDPGGGGGEEGGAGGLF"
     exon            384..918
                     /gene="NXNL1"
                     /gene_synonym="RDCVF; TXNL6"
                     /inference="alignment:Splign:2.1.0"
ORIGIN      
        1 agtcagcaga ccggggacca cacgccgcgc tgtccccagc acccaaccca ggttaccatg
       61 gcctccctgt tctctggccg catcctgatc cgcaacaata gcgaccagga cgagctggat
      121 acggaggctg aggtcagtcg caggctggag aaccggctgg tgctgctgtt ctttggtgct
      181 ggggcttgtc cacagtgcca ggccttcgtg cccatcctca aggacttctt cgtgcggctc
      241 acagatgagt tctatgtact gcgggcggct cagctggccc tggtgtacgt gtcccaggac
      301 tccacggagg agcagcagga cctgttcctc aaggacatgc caaagaaatg gcttttcctg
      361 ccctttgagg atgatctgag gagggacctc gggcgccagt tctcagtgga gcgcctgccg
      421 gcggtcgtgg tgctcaagcc ggacggggac gtgctcactc gcgacggcgc cgacgagatc
      481 cagcgcctgg gcaccgcctg cttcgccaac tggcaggagg cggccgaggt gctggaccgc
      541 aacttccagc tgccagagga cctggaggac caggagccac ggagcctcac cgagtgcctg
      601 cgccgccaca agtaccgcgt ggaaaaggcg gcgcgaggcg ggcgcgaccc cgggggaggg
      661 ggtggggagg agggcggggc cggggggctg ttctgacccg ctagggtgga ggagaggagt
      721 ggggtttgtt gatgaacctc cacccccacc ccacccccgc acgcctgtaa tcccagcact
      781 tggggaggcc aaggcgggag gatcgcttga gcccagaggt tcgagatcaa cctgggcaag
      841 agagtgagac cctgactcta cgaaaattaa aagttagccc ggtgtggtgg cgcgcacctg
      901 tggcttagct accctgaa
//
