NXNL2_HUMAN
ID NXNL2_HUMAN Reviewed; 156 AA.
AC Q5VZ03; B1AMD0; Q8TBG6;
DT 04-APR-2006, integrated into UniProtKB/Swiss-Prot.
DT 07-DEC-2004, sequence version 1.
DT 03-AUG-2022, entry version 135.
DE RecName: Full=Nucleoredoxin-like protein 2;
DE AltName: Full=Rod-derived cone viability factor 2;
DE Short=RdCVF2;
GN Name=NXNL2; Synonyms=C9orf121;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15164053; DOI=10.1038/nature02465;
RA Humphray S.J., Oliver K., Hunt A.R., Plumb R.W., Loveland J.E., Howe K.L.,
RA Andrews T.D., Searle S., Hunt S.E., Scott C.E., Jones M.C., Ainscough R.,
RA Almeida J.P., Ambrose K.D., Ashwell R.I.S., Babbage A.K., Babbage S.,
RA Bagguley C.L., Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K.,
RA Beasley H., Beasley O., Bird C.P., Bray-Allen S., Brown A.J., Brown J.Y.,
RA Burford D., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C.,
RA Chen Y., Clarke G., Clark S.Y., Clee C.M., Clegg S., Collier R.E.,
RA Corby N., Crosier M., Cummings A.T., Davies J., Dhami P., Dunn M.,
RA Dutta I., Dyer L.W., Earthrowl M.E., Faulkner L., Fleming C.J.,
RA Frankish A., Frankland J.A., French L., Fricker D.G., Garner P.,
RA Garnett J., Ghori J., Gilbert J.G.R., Glison C., Grafham D.V., Gribble S.,
RA Griffiths C., Griffiths-Jones S., Grocock R., Guy J., Hall R.E.,
RA Hammond S., Harley J.L., Harrison E.S.I., Hart E.A., Heath P.D.,
RA Henderson C.D., Hopkins B.L., Howard P.J., Howden P.J., Huckle E.,
RA Johnson C., Johnson D., Joy A.A., Kay M., Keenan S., Kershaw J.K.,
RA Kimberley A.M., King A., Knights A., Laird G.K., Langford C., Lawlor S.,
RA Leongamornlert D.A., Leversha M., Lloyd C., Lloyd D.M., Lovell J.,
RA Martin S., Mashreghi-Mohammadi M., Matthews L., McLaren S., McLay K.E.,
RA McMurray A., Milne S., Nickerson T., Nisbett J., Nordsiek G., Pearce A.V.,
RA Peck A.I., Porter K.M., Pandian R., Pelan S., Phillimore B., Povey S.,
RA Ramsey Y., Rand V., Scharfe M., Sehra H.K., Shownkeen R., Sims S.K.,
RA Skuce C.D., Smith M., Steward C.A., Swarbreck D., Sycamore N., Tester J.,
RA Thorpe A., Tracey A., Tromans A., Thomas D.W., Wall M., Wallis J.M.,
RA West A.P., Whitehead S.L., Willey D.L., Williams S.A., Wilming L.,
RA Wray P.W., Young L., Ashurst J.L., Coulson A., Blocker H., Durbin R.M.,
RA Sulston J.E., Hubbard T., Jackson M.J., Bentley D.R., Beck S., Rogers J.,
RA Dunham I.;
RT "DNA sequence and analysis of human chromosome 9.";
RL Nature 429:369-374(2004).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), AND VARIANT CYS-76.
RC TISSUE=Brain;
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).
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. {ECO:0000250}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q5VZ03-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q5VZ03-3; Sequence=VSP_039844;
CC -!- SIMILARITY: Belongs to the nucleoredoxin family. {ECO:0000305}.
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DR EMBL; AL162729; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AL592486; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC022521; AAH22521.1; -; mRNA.
DR CCDS; CCDS55325.1; -. [Q5VZ03-1]
DR CCDS; CCDS6679.1; -. [Q5VZ03-3]
DR RefSeq; NP_001155097.1; NM_001161625.1. [Q5VZ03-1]
DR RefSeq; NP_660326.2; NM_145283.2. [Q5VZ03-3]
DR AlphaFoldDB; Q5VZ03; -.
DR SMR; Q5VZ03; -.
DR BioGRID; 127641; 7.
DR IntAct; Q5VZ03; 1.
DR STRING; 9606.ENSP00000365014; -.
DR PhosphoSitePlus; Q5VZ03; -.
DR BioMuta; NXNL2; -.
DR DMDM; 74747736; -.
DR PaxDb; Q5VZ03; -.
DR PeptideAtlas; Q5VZ03; -.
DR PRIDE; Q5VZ03; -.
DR ProteomicsDB; 65660; -. [Q5VZ03-1]
DR Antibodypedia; 43680; 206 antibodies from 18 providers.
DR DNASU; 158046; -.
DR Ensembl; ENST00000375854.8; ENSP00000365014.3; ENSG00000130045.17. [Q5VZ03-1]
DR Ensembl; ENST00000375855.3; ENSP00000365015.3; ENSG00000130045.17. [Q5VZ03-3]
DR Ensembl; ENST00000649870.2; ENSP00000508470.1; ENSG00000130045.17. [Q5VZ03-1]
DR GeneID; 158046; -.
DR KEGG; hsa:158046; -.
DR MANE-Select; ENST00000375854.8; ENSP00000365014.3; NM_001161625.2; NP_001155097.1.
DR UCSC; uc004aqa.4; human. [Q5VZ03-1]
DR CTD; 158046; -.
DR GeneCards; NXNL2; -.
DR HGNC; HGNC:30482; NXNL2.
DR HPA; ENSG00000130045; Low tissue specificity.
DR MIM; 615299; gene.
DR neXtProt; NX_Q5VZ03; -.
DR OpenTargets; ENSG00000130045; -.
DR PharmGKB; PA162398384; -.
DR VEuPathDB; HostDB:ENSG00000130045; -.
DR eggNOG; KOG2501; Eukaryota.
DR GeneTree; ENSGT00940000161260; -.
DR HOGENOM; CLU_116457_0_0_1; -.
DR InParanoid; Q5VZ03; -.
DR OMA; TDDYKHE; -.
DR OrthoDB; 1624076at2759; -.
DR PhylomeDB; Q5VZ03; -.
DR TreeFam; TF331873; -.
DR PathwayCommons; Q5VZ03; -.
DR SignaLink; Q5VZ03; -.
DR BioGRID-ORCS; 158046; 7 hits in 1059 CRISPR screens.
DR ChiTaRS; NXNL2; human.
DR GenomeRNAi; 158046; -.
DR Pharos; Q5VZ03; Tdark.
DR PRO; PR:Q5VZ03; -.
DR Proteomes; UP000005640; Chromosome 9.
DR RNAct; Q5VZ03; protein.
DR Bgee; ENSG00000130045; Expressed in right uterine tube and 98 other tissues.
DR ExpressionAtlas; Q5VZ03; baseline and differential.
DR Genevisible; Q5VZ03; HS.
DR GO; GO:0045494; P:photoreceptor cell maintenance; IEA:InterPro.
DR GO; GO:0007608; P:sensory perception of smell; IBA:GO_Central.
DR GO; GO:0007601; P:visual perception; IBA:GO_Central.
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 2: Evidence at transcript level;
KW Alternative splicing; Reference proteome.
FT CHAIN 1..156
FT /note="Nucleoredoxin-like protein 2"
FT /id="PRO_0000229735"
FT DOMAIN 9..147
FT /note="Thioredoxin"
FT VAR_SEQ 101..156
FT /note="HELRKRYNVTAIPKLVIVKQNGEVITNKGRKQIRERGLACFQDWVEAADIFQ
FT NFSV -> QRSLALLPRLECSGVILAHCNLCLLGSSDSLALAS (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_039844"
FT VARIANT 76
FT /note="S -> C (in dbSNP:rs17852066)"
FT /evidence="ECO:0000269|PubMed:15489334"
FT /id="VAR_025755"
SQ SEQUENCE 156 AA; 17614 MW; CC391C3B722DC73A CRC64;
MVDILGERHL VTCKGATVEA EAALQNKVVA LYFAAARCAP SRDFTPLLCD FYTALVAEAR
RPAPFEVVFV SADGSSQEML DFMRELHGAW LALPFHDPYR HELRKRYNVT AIPKLVIVKQ
NGEVITNKGR KQIRERGLAC FQDWVEAADI FQNFSV
