NXNL2_MOUSE
ID NXNL2_MOUSE Reviewed; 156 AA.
AC Q9D531; Q91WB0;
DT 04-APR-2006, integrated into UniProtKB/Swiss-Prot.
DT 01-JUN-2001, sequence version 1.
DT 03-AUG-2022, entry version 131.
DE RecName: Full=Nucleoredoxin-like protein 2;
DE AltName: Full=Rod-derived cone viability factor 2;
DE Short=RdCVF2;
GN Name=Nxnl2;
OS Mus musculus (Mouse).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae;
OC Murinae; Mus; Mus.
OX NCBI_TaxID=10090;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC STRAIN=C57BL/6J; TISSUE=Testis;
RX PubMed=16141072; DOI=10.1126/science.1112014;
RA Carninci P., Kasukawa T., Katayama S., Gough J., Frith M.C., Maeda N.,
RA Oyama R., Ravasi T., Lenhard B., Wells C., Kodzius R., Shimokawa K.,
RA Bajic V.B., Brenner S.E., Batalov S., Forrest A.R., Zavolan M., Davis M.J.,
RA Wilming L.G., Aidinis V., Allen J.E., Ambesi-Impiombato A., Apweiler R.,
RA Aturaliya R.N., Bailey T.L., Bansal M., Baxter L., Beisel K.W., Bersano T.,
RA Bono H., Chalk A.M., Chiu K.P., Choudhary V., Christoffels A.,
RA Clutterbuck D.R., Crowe M.L., Dalla E., Dalrymple B.P., de Bono B.,
RA Della Gatta G., di Bernardo D., Down T., Engstrom P., Fagiolini M.,
RA Faulkner G., Fletcher C.F., Fukushima T., Furuno M., Futaki S.,
RA Gariboldi M., Georgii-Hemming P., Gingeras T.R., Gojobori T., Green R.E.,
RA Gustincich S., Harbers M., Hayashi Y., Hensch T.K., Hirokawa N., Hill D.,
RA Huminiecki L., Iacono M., Ikeo K., Iwama A., Ishikawa T., Jakt M.,
RA Kanapin A., Katoh M., Kawasawa Y., Kelso J., Kitamura H., Kitano H.,
RA Kollias G., Krishnan S.P., Kruger A., Kummerfeld S.K., Kurochkin I.V.,
RA Lareau L.F., Lazarevic D., Lipovich L., Liu J., Liuni S., McWilliam S.,
RA Madan Babu M., Madera M., Marchionni L., Matsuda H., Matsuzawa S., Miki H.,
RA Mignone F., Miyake S., Morris K., Mottagui-Tabar S., Mulder N., Nakano N.,
RA Nakauchi H., Ng P., Nilsson R., Nishiguchi S., Nishikawa S., Nori F.,
RA Ohara O., Okazaki Y., Orlando V., Pang K.C., Pavan W.J., Pavesi G.,
RA Pesole G., Petrovsky N., Piazza S., Reed J., Reid J.F., Ring B.Z.,
RA Ringwald M., Rost B., Ruan Y., Salzberg S.L., Sandelin A., Schneider C.,
RA Schoenbach C., Sekiguchi K., Semple C.A., Seno S., Sessa L., Sheng Y.,
RA Shibata Y., Shimada H., Shimada K., Silva D., Sinclair B., Sperling S.,
RA Stupka E., Sugiura K., Sultana R., Takenaka Y., Taki K., Tammoja K.,
RA Tan S.L., Tang S., Taylor M.S., Tegner J., Teichmann S.A., Ueda H.R.,
RA van Nimwegen E., Verardo R., Wei C.L., Yagi K., Yamanishi H.,
RA Zabarovsky E., Zhu S., Zimmer A., Hide W., Bult C., Grimmond S.M.,
RA Teasdale R.D., Liu E.T., Brusic V., Quackenbush J., Wahlestedt C.,
RA Mattick J.S., Hume D.A., Kai C., Sasaki D., Tomaru Y., Fukuda S.,
RA Kanamori-Katayama M., Suzuki M., Aoki J., Arakawa T., Iida J., Imamura K.,
RA Itoh M., Kato T., Kawaji H., Kawagashira N., Kawashima T., Kojima M.,
RA Kondo S., Konno H., Nakano K., Ninomiya N., Nishio T., Okada M., Plessy C.,
RA Shibata K., Shiraki T., Suzuki S., Tagami M., Waki K., Watahiki A.,
RA Okamura-Oho Y., Suzuki H., Kawai J., Hayashizaki Y.;
RT "The transcriptional landscape of the mammalian genome.";
RL Science 309:1559-1563(2005).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2).
RC STRAIN=C57BL/6J; TISSUE=Mammary tumor, and Retina;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [3]
RP FUNCTION (ISOFORM 2), TISSUE SPECIFICITY, AND ALTERNATIVE SPLICING.
RX PubMed=17764561; DOI=10.1186/1471-2199-8-74;
RA Chalmel F., Leveillard T., Jaillard C., Lardenois A., Berdugo N., Morel E.,
RA Koehl P., Lambrou G., Holmgren A., Sahel J.A., Poch O.;
RT "Rod-derived cone viability factor-2 is a novel bifunctional-thioredoxin-
RT like protein with therapeutic potential.";
RL BMC Mol. Biol. 8:74-74(2007).
RN [4]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Testis;
RX PubMed=21183079; DOI=10.1016/j.cell.2010.12.001;
RA Huttlin E.L., Jedrychowski M.P., Elias J.E., Goswami T., Rad R.,
RA Beausoleil S.A., Villen J., Haas W., Sowa M.E., Gygi S.P.;
RT "A tissue-specific atlas of mouse protein phosphorylation and expression.";
RL Cell 143:1174-1189(2010).
RN [5]
RP FUNCTION, DISRUPTION PHENOTYPE, AND TISSUE SPECIFICITY.
RX PubMed=22343139; DOI=10.1093/hmg/dds050;
RA Jaillard C., Mouret A., Niepon M.L., Clerin E., Yang Y., Lee-Rivera I.,
RA Ait-Ali N., Millet-Puel G., Cronin T., Sedmak T., Raffelsberger W.,
RA Kinzel B., Trembleau A., Poch O., Bennett J., Wolfrum U., Lledo P.M.,
RA Sahel J.A., Leveillard T.;
RT "Nxnl2 splicing results in dual functions in neuronal cell survival and
RT maintenance of cell integrity.";
RL Hum. Mol. Genet. 21:2298-2311(2012).
CC -!- FUNCTION: May be involved in the maintenance of both the function and
CC the viability of sensory neurons, including photoreceptors and
CC olfactory neurons. In the retina, isoform 1 may be required for rod
CC function and isoform 2 for cone viability and function.
CC {ECO:0000269|PubMed:22343139}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1; Synonyms=RdCVF2_L;
CC IsoId=Q9D531-3; Sequence=Displayed;
CC Name=2; Synonyms=RdCVF2, RdCVF2_S;
CC IsoId=Q9D531-4; Sequence=VSP_053273, VSP_053274;
CC -!- TISSUE SPECIFICITY: Both isoforms are expressed in retina, in the
CC photoreceptor layer, and throughout the olfactory sensory neuron layer
CC of the nasal epithelium, in neurons. Also expressed at low levels in
CC brain and testis. {ECO:0000269|PubMed:17764561,
CC ECO:0000269|PubMed:22343139}.
CC -!- DISRUPTION PHENOTYPE: At 10 months of age, mutant animals show signs of
CC photoreceptor dysfunction. The progressive loss of cone function is
CC followed by cone cell death, while in rods, the outer segment length id
CC reduced, but not rod cell death is not observed. At 12 months, mice
CC present a stronger age-dependent impairment of fine odor discrimination
CC than their wild-type counterparts. {ECO:0000269|PubMed:22343139}.
CC -!- SIMILARITY: Belongs to the nucleoredoxin family. {ECO:0000305}.
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DR EMBL; AK015847; BAB29999.1; -; mRNA.
DR EMBL; BC016199; -; NOT_ANNOTATED_CDS; mRNA.
DR EMBL; BC038905; AAH38905.1; -; mRNA.
DR CCDS; CCDS26511.1; -. [Q9D531-3]
DR RefSeq; NP_083449.1; NM_029173.4. [Q9D531-3]
DR RefSeq; XP_006517023.1; XM_006516960.1. [Q9D531-3]
DR RefSeq; XP_006517024.1; XM_006516961.3. [Q9D531-3]
DR RefSeq; XP_006517025.1; XM_006516962.3. [Q9D531-3]
DR AlphaFoldDB; Q9D531; -.
DR SMR; Q9D531; -.
DR STRING; 10090.ENSMUSP00000021828; -.
DR PhosphoSitePlus; Q9D531; -.
DR jPOST; Q9D531; -.
DR PaxDb; Q9D531; -.
DR PRIDE; Q9D531; -.
DR ProteomicsDB; 293479; -. [Q9D531-3]
DR ProteomicsDB; 293480; -. [Q9D531-4]
DR Antibodypedia; 43680; 206 antibodies from 18 providers.
DR DNASU; 75124; -.
DR Ensembl; ENSMUST00000021828; ENSMUSP00000021828; ENSMUSG00000021396. [Q9D531-3]
DR GeneID; 75124; -.
DR KEGG; mmu:75124; -.
DR UCSC; uc007qme.1; mouse. [Q9D531-3]
DR CTD; 158046; -.
DR MGI; MGI:1922374; Nxnl2.
DR VEuPathDB; HostDB:ENSMUSG00000021396; -.
DR eggNOG; KOG2501; Eukaryota.
DR GeneTree; ENSGT00940000161260; -.
DR HOGENOM; CLU_116457_0_0_1; -.
DR InParanoid; Q9D531; -.
DR OMA; TDDYKHE; -.
DR OrthoDB; 1624076at2759; -.
DR PhylomeDB; Q9D531; -.
DR TreeFam; TF331873; -.
DR BioGRID-ORCS; 75124; 0 hits in 71 CRISPR screens.
DR ChiTaRS; Nxnl2; mouse.
DR PRO; PR:Q9D531; -.
DR Proteomes; UP000000589; Chromosome 13.
DR RNAct; Q9D531; protein.
DR Bgee; ENSMUSG00000021396; Expressed in retinal neural layer and 53 other tissues.
DR Genevisible; Q9D531; MM.
DR GO; GO:0045494; P:photoreceptor cell maintenance; IEA:InterPro.
DR GO; GO:0007608; P:sensory perception of smell; IMP:MGI.
DR GO; GO:0007601; P:visual perception; IMP:MGI.
DR InterPro; IPR029519; RdCVF2.
DR InterPro; IPR012336; Thioredoxin-like_fold.
DR InterPro; IPR036249; Thioredoxin-like_sf.
DR PANTHER; PTHR46762; PTHR46762; 1.
DR Pfam; PF13905; Thioredoxin_8; 1.
DR SUPFAM; SSF52833; SSF52833; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Reference proteome.
FT CHAIN 1..156
FT /note="Nucleoredoxin-like protein 2"
FT /id="PRO_0000229736"
FT DOMAIN 9..147
FT /note="Thioredoxin"
FT VAR_SEQ 101
FT /note="H -> Q (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_053273"
FT VAR_SEQ 102..156
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_053274"
SQ SEQUENCE 156 AA; 17620 MW; A4EA6D6859458C68 CRC64;
MVDVLGGRRL VTREGTVVEA EVALQNKVVA LYFAAGRCSP SRDFTPLLCD FYTELVSEAR
RPAPFEVVFV SADGSAEEML DFMRELHGSW LALPFHDPYR HELKKRYEIT AIPKLVVIKQ
NGAVITNKGR KQIRERGLAC FQNWVEAADV FQNFSG
