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2024-04-19 12:40:02, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_138454 948 bp mRNA linear PRI 17-APR-2013
DEFINITION Homo sapiens nucleoredoxin-like 1 (NXNL1), mRNA.
ACCESSION NM_138454
VERSION NM_138454.1 GI:19923986
KEYWORDS RefSeq.
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 948)
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 2 (bases 1 to 948)
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 3 (bases 1 to 948)
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 4 (bases 1 to 948)
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 5 (bases 1 to 948)
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 6 (bases 1 to 948)
AUTHORS Lamesch,P., Li,N., Milstein,S., Fan,C., Hao,T., Szabo,G., Hu,Z.,
Venkatesan,K., Bethel,G., Martin,P., Rogers,J., Lawlor,S.,
McLaren,S., Dricot,A., Borick,H., Cusick,M.E., Vandenhaute,J.,
Dunham,I., Hill,D.E. and Vidal,M.
TITLE hORFeome v3.1: a resource of human open reading frames representing
over 10,000 human genes
JOURNAL Genomics 89 (3), 307-315 (2007)
PUBMED 17207965
REFERENCE 7 (bases 1 to 948)
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 8 (bases 1 to 948)
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 9 (bases 1 to 948)
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 PROVISIONAL REFSEQ: This record has not yet been subject to final
NCBI review. The reference sequence was derived from BC014127.1.
##Evidence-Data-START##
Transcript exon combination :: BC014127.1, BG395178.1 [ECO:0000332]
RNAseq introns :: single sample supports all introns
ERS025081, ERS025084 [ECO:0000348]
##Evidence-Data-END##
FEATURES Location/Qualifiers
source 1..948
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="19"
/map="19p13.11"
gene 1..948
/gene="NXNL1"
/gene_synonym="RDCVF; TXNL6"
/note="nucleoredoxin-like 1"
/db_xref="GeneID:115861"
/db_xref="HGNC:25179"
/db_xref="HPRD:12300"
/db_xref="MIM:608791"
exon 1..373
/gene="NXNL1"
/gene_synonym="RDCVF; TXNL6"
/inference="alignment:Splign:1.39.8"
variation complement(13)
/gene="NXNL1"
/gene_synonym="RDCVF; TXNL6"
/replace="c"
/replace="t"
/db_xref="dbSNP:200603341"
variation complement(17)
/gene="NXNL1"
/gene_synonym="RDCVF; TXNL6"
/replace="a"
/replace="g"
/db_xref="dbSNP:371631664"
variation complement(36)
/gene="NXNL1"
/gene_synonym="RDCVF; TXNL6"
/replace="a"
/replace="g"
/db_xref="dbSNP:369023942"
CDS 48..686
/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="GI:19923987"
/db_xref="CCDS:CCDS12360.1"
/db_xref="GeneID:115861"
/db_xref="HGNC:25179"
/db_xref="HPRD:12300"
/db_xref="MIM:608791"
/translation="
MASLFSGRILIRNNSDQDELDTEAEVSRRLENRLVLLFFGAGACPQCQAFVPILKDFFVRLTDEFYVLRAAQLALVYVSQDSTEEQQDLFLKDMPKKWLFLPFEDDLRRDLGRQFSVERLPAVVVLKPDGDVLTRDGADEIQRLGTACFANWQEAAEVLDRNFQLPEDLEDQEPRSLTECLRRHKYRVEKAARGGRDPGGGGGEEGGAGGLF
"
misc_feature 69..506
/gene="NXNL1"
/gene_synonym="RDCVF; TXNL6"
/note="Tryparedoxin (TryX)-like family, Rod-derived cone
viability factor (RdCVF) subfamily; RdCVF is a thioredoxin
(TRX)-like protein specifically expressed in
photoreceptors. RdCVF was isolated and identified as a
factor that supports cone survival in retinal...; Region:
TryX_like_RdCVF; cd03008"
/db_xref="CDD:48557"
misc_feature order(177..179,186..188)
/gene="NXNL1"
/gene_synonym="RDCVF; TXNL6"
/note="putative catalytic residues [active]"
/db_xref="CDD:48557"
variation complement(48)
/gene="NXNL1"
/gene_synonym="RDCVF; TXNL6"
/replace="a"
/replace="g"
/db_xref="dbSNP:142316793"
variation complement(69)
/gene="NXNL1"
/gene_synonym="RDCVF; TXNL6"
/replace="c"
/replace="t"
/db_xref="dbSNP:369921727"
variation complement(71)
/gene="NXNL1"
/gene_synonym="RDCVF; TXNL6"
/replace="a"
/replace="c"
/db_xref="dbSNP:140823542"
variation complement(81)
/gene="NXNL1"
/gene_synonym="RDCVF; TXNL6"
/replace="c"
/replace="t"
/db_xref="dbSNP:201151826"
variation complement(82)
/gene="NXNL1"
/gene_synonym="RDCVF; TXNL6"
/replace="a"
/replace="g"
/db_xref="dbSNP:376824868"
variation complement(83)
/gene="NXNL1"
/gene_synonym="RDCVF; TXNL6"
/replace="a"
/replace="c"
/db_xref="dbSNP:147394576"
variation complement(92)
/gene="NXNL1"
/gene_synonym="RDCVF; TXNL6"
/replace="c"
/replace="t"
/db_xref="dbSNP:142835364"
variation complement(93)
/gene="NXNL1"
/gene_synonym="RDCVF; TXNL6"
/replace="a"
/replace="g"
/db_xref="dbSNP:140610859"
variation complement(112)
/gene="NXNL1"
/gene_synonym="RDCVF; TXNL6"
/replace="c"
/replace="t"
/db_xref="dbSNP:375513833"
variation complement(113)
/gene="NXNL1"
/gene_synonym="RDCVF; TXNL6"
/replace="a"
/replace="g"
/db_xref="dbSNP:199712483"
variation complement(114)
/gene="NXNL1"
/gene_synonym="RDCVF; TXNL6"
/replace="a"
/replace="g"
/db_xref="dbSNP:144177332"
variation complement(130)
/gene="NXNL1"
/gene_synonym="RDCVF; TXNL6"
/replace="a"
/replace="g"
/db_xref="dbSNP:372809923"
variation complement(134)
/gene="NXNL1"
/gene_synonym="RDCVF; TXNL6"
/replace="a"
/replace="g"
/db_xref="dbSNP:368463370"
variation complement(140)
/gene="NXNL1"
/gene_synonym="RDCVF; TXNL6"
/replace="c"
/replace="g"
/db_xref="dbSNP:76407302"
variation complement(151)
/gene="NXNL1"
/gene_synonym="RDCVF; TXNL6"
/replace="g"
/replace="t"
/db_xref="dbSNP:80113786"
variation complement(165)
/gene="NXNL1"
/gene_synonym="RDCVF; TXNL6"
/replace="g"
/replace="t"
/db_xref="dbSNP:75189705"
variation complement(198)
/gene="NXNL1"
/gene_synonym="RDCVF; TXNL6"
/replace="a"
/replace="g"
/db_xref="dbSNP:374915427"
variation complement(221)
/gene="NXNL1"
/gene_synonym="RDCVF; TXNL6"
/replace="c"
/replace="t"
/db_xref="dbSNP:137874549"
variation complement(225)
/gene="NXNL1"
/gene_synonym="RDCVF; TXNL6"
/replace="c"
/replace="t"
/db_xref="dbSNP:182137093"
variation complement(226)
/gene="NXNL1"
/gene_synonym="RDCVF; TXNL6"
/replace="a"
/replace="g"
/db_xref="dbSNP:371790764"
variation complement(233)
/gene="NXNL1"
/gene_synonym="RDCVF; TXNL6"
/replace="a"
/replace="g"
/db_xref="dbSNP:367630859"
variation complement(237)
/gene="NXNL1"
/gene_synonym="RDCVF; TXNL6"
/replace="a"
/replace="g"
/db_xref="dbSNP:150719211"
variation complement(243)
/gene="NXNL1"
/gene_synonym="RDCVF; TXNL6"
/replace="c"
/replace="t"
/db_xref="dbSNP:374980877"
variation complement(244)
/gene="NXNL1"
/gene_synonym="RDCVF; TXNL6"
/replace="a"
/replace="g"
/db_xref="dbSNP:370480285"
variation complement(252)
/gene="NXNL1"
/gene_synonym="RDCVF; TXNL6"
/replace="c"
/replace="t"
/db_xref="dbSNP:372287276"
variation complement(284)
/gene="NXNL1"
/gene_synonym="RDCVF; TXNL6"
/replace="a"
/replace="c"
/db_xref="dbSNP:185508084"
variation complement(291)
/gene="NXNL1"
/gene_synonym="RDCVF; TXNL6"
/replace="c"
/replace="t"
/db_xref="dbSNP:368607758"
variation complement(295)
/gene="NXNL1"
/gene_synonym="RDCVF; TXNL6"
/replace="c"
/replace="t"
/db_xref="dbSNP:377352923"
variation complement(296)
/gene="NXNL1"
/gene_synonym="RDCVF; TXNL6"
/replace="g"
/replace="t"
/db_xref="dbSNP:374141772"
variation complement(303)
/gene="NXNL1"
/gene_synonym="RDCVF; TXNL6"
/replace="c"
/replace="t"
/db_xref="dbSNP:371083550"
variation complement(315)
/gene="NXNL1"
/gene_synonym="RDCVF; TXNL6"
/replace="c"
/replace="t"
/db_xref="dbSNP:78643580"
variation complement(320)
/gene="NXNL1"
/gene_synonym="RDCVF; TXNL6"
/replace="c"
/replace="g"
/db_xref="dbSNP:138621059"
variation complement(322)
/gene="NXNL1"
/gene_synonym="RDCVF; TXNL6"
/replace="a"
/replace="g"
/db_xref="dbSNP:201992877"
variation complement(329)
/gene="NXNL1"
/gene_synonym="RDCVF; TXNL6"
/replace="g"
/replace="t"
/db_xref="dbSNP:145106863"
variation complement(330)
/gene="NXNL1"
/gene_synonym="RDCVF; TXNL6"
/replace="a"
/replace="c"
/db_xref="dbSNP:373380579"
exon 374..908
/gene="NXNL1"
/gene_synonym="RDCVF; TXNL6"
/inference="alignment:Splign:1.39.8"
variation complement(377)
/gene="NXNL1"
/gene_synonym="RDCVF; TXNL6"
/replace="c"
/replace="t"
/db_xref="dbSNP:371085748"
variation complement(422)
/gene="NXNL1"
/gene_synonym="RDCVF; TXNL6"
/replace="g"
/replace="t"
/db_xref="dbSNP:192929983"
variation complement(425)
/gene="NXNL1"
/gene_synonym="RDCVF; TXNL6"
/replace="c"
/replace="g"
/db_xref="dbSNP:375599803"
variation complement(453)
/gene="NXNL1"
/gene_synonym="RDCVF; TXNL6"
/replace="a"
/replace="g"
/db_xref="dbSNP:372954697"
variation complement(455)
/gene="NXNL1"
/gene_synonym="RDCVF; TXNL6"
/replace="c"
/replace="t"
/db_xref="dbSNP:112314563"
variation complement(508)
/gene="NXNL1"
/gene_synonym="RDCVF; TXNL6"
/replace="a"
/replace="t"
/db_xref="dbSNP:56248314"
variation complement(519)
/gene="NXNL1"
/gene_synonym="RDCVF; TXNL6"
/replace="a"
/replace="g"
/db_xref="dbSNP:373187772"
variation complement(521)
/gene="NXNL1"
/gene_synonym="RDCVF; TXNL6"
/replace="c"
/replace="g"
/db_xref="dbSNP:369694146"
variation complement(532)
/gene="NXNL1"
/gene_synonym="RDCVF; TXNL6"
/replace="a"
/replace="g"
/db_xref="dbSNP:10408265"
variation complement(537)
/gene="NXNL1"
/gene_synonym="RDCVF; TXNL6"
/replace="a"
/replace="c"
/db_xref="dbSNP:201159027"
variation complement(568)
/gene="NXNL1"
/gene_synonym="RDCVF; TXNL6"
/replace="c"
/replace="t"
/db_xref="dbSNP:201624169"
variation complement(580)
/gene="NXNL1"
/gene_synonym="RDCVF; TXNL6"
/replace="c"
/replace="t"
/db_xref="dbSNP:56084515"
variation complement(733)
/gene="NXNL1"
/gene_synonym="RDCVF; TXNL6"
/replace="a"
/replace="c"
/db_xref="dbSNP:56384297"
variation complement(785)
/gene="NXNL1"
/gene_synonym="RDCVF; TXNL6"
/replace="c"
/replace="t"
/db_xref="dbSNP:187776873"
variation complement(869)
/gene="NXNL1"
/gene_synonym="RDCVF; TXNL6"
/replace="c"
/replace="t"
/db_xref="dbSNP:183371494"
ORIGIN
ccggggaccacacgccgcgctgtccccagcacccaacccaggttaccatggcctccctgttctctggccgcatcctgatccgcaacaatagcgaccaggacgagctggatacggaggctgaggtcagtcgcaggctggagaaccggctggtgctgctgttctttggtgctggggcttgtccacagtgccaggccttcgtgcccatcctcaaggacttcttcgtgcggctcacagatgagttctatgtactgcgggcggctcagctggccctggtgtacgtgtcccaggactccacggaggagcagcaggacctgttcctcaaggacatgccaaagaaatggcttttcctgccctttgaggatgatctgaggagggacctcgggcgccagttctcagtggagcgcctgccggcggtcgtggtgctcaagccggacggggacgtgctcactcgcgacggcgccgacgagatccagcgcctgggcaccgcctgcttcgccaactggcaggaggcggccgaggtgctggaccgcaacttccagctgccagaggacctggaggaccaggagccacggagcctcaccgagtgcctgcgccgccacaagtaccgcgtggaaaaggcggcgcgaggcgggcgcgaccccgggggagggggtggggaggagggcggggccggggggctgttctgacccgctagggtggaggagaggagtggggtttgttgatgaacctccacccccaccccacccccgcacgcctgtaatcccagcacttggggaggccaaggcgggaggatcgcttgagcccagaggttcgagatcaacctgggcaagagagtgagaccctgactctacgaaaattaaaagttagcccggtgtggtggcgcgcacctgtggcttagctaccctgaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaa
//
ANNOTATIONS from NCBI Entrez Gene (20130726):
GeneID:115861 -> Cellular component: GO:0005640 [nuclear outer membrane] evidence: IEA
GeneID:115861 -> Cellular component: GO:0005739 [mitochondrion] evidence: IEA
by
@meso_cacase at
DBCLS
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