NXNL1_HUMAN
ID NXNL1_HUMAN Reviewed; 212 AA.
AC Q96CM4; Q0QD37;
DT 26-FEB-2008, integrated into UniProtKB/Swiss-Prot.
DT 01-DEC-2001, sequence version 1.
DT 03-AUG-2022, entry version 142.
DE RecName: Full=Nucleoredoxin-like protein 1;
DE AltName: Full=Thioredoxin-like protein 6;
GN Name=NXNL1; Synonyms=TXNL6;
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].
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M.,
RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA Hunkapiller M.W., Myers E.W., Venter J.C.;
RL Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases.
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Eye;
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 NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1-19.
RC TISSUE=Retina;
RX PubMed=17286855; DOI=10.1186/1471-2164-8-42;
RA Roni V., Carpio R., Wissinger B.;
RT "Mapping of transcription start sites of human retina expressed genes.";
RL BMC Genomics 8:42-42(2007).
RN [4]
RP CHARACTERIZATION OF VARIANT LYS-64, FUNCTION, AND INTERACTION WITH BSG.
RX PubMed=25957687; DOI=10.1016/j.cell.2015.03.023;
RA Ait-Ali N., Fridlich R., Millet-Puel G., Clerin E., Delalande F.,
RA Jaillard C., Blond F., Perrocheau L., Reichman S., Byrne L.C.,
RA Olivier-Bandini A., Bellalou J., Moyse E., Bouillaud F., Nicol X.,
RA Dalkara D., van Dorsselaer A., Sahel J.A., Leveillard T.;
RT "Rod-derived cone viability factor promotes cone survival by stimulating
RT aerobic glycolysis.";
RL Cell 161:817-832(2015).
RN [5]
RP VARIANTS ASN-18; LYS-64; ARG-92; ILE-94; TRP-112; SER-162 AND ILE-178.
RX PubMed=17249548; DOI=10.1007/0-387-32442-9_2;
RA Hanein S., Perrault I., Gerber S., Dollfus H., Dufier J.L., Feingold J.,
RA Munnich A., Bhattacharya S., Kaplan J., Sahel J.A., Rozet J.M.,
RA Leveillard T.;
RT "Disease-associated variants of the rod-derived cone viability factor
RT (RdCVF) in Leber congenital amaurosis. Rod-derived cone viability variants
RT in LCA.";
RL Adv. Exp. Med. Biol. 572:9-14(2006).
CC -!- FUNCTION: Plays an important role in retinal cone photoreceptor
CC survival (PubMed:25957687). In association with glucose transporter
CC SLC16A1/GLUT1 and BSG, promotes retinal cone survival by enhancing
CC aerobic glycolysis and accelerating the entry of glucose into
CC photoreceptors (PubMed:25957687). May play a role in cone cell
CC viability, slowing down cone degeneration, does not seem to play a role
CC in degenerating rods (By similarity). {ECO:0000250|UniProtKB:Q8VC33,
CC ECO:0000269|PubMed:25957687}.
CC -!- SUBUNIT: Interacts with isoform 1 of BSG.
CC {ECO:0000269|PubMed:25957687}.
CC -!- SUBCELLULAR LOCATION: Cell projection, cilium, photoreceptor outer
CC segment {ECO:0000250|UniProtKB:Q8VC33}.
CC -!- SIMILARITY: Belongs to the nucleoredoxin family. {ECO:0000305}.
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DR EMBL; CH471106; EAW84608.1; -; Genomic_DNA.
DR EMBL; BC014127; AAH14127.1; -; mRNA.
DR EMBL; DQ426894; ABD90545.1; -; mRNA.
DR CCDS; CCDS12360.1; -.
DR RefSeq; NP_612463.1; NM_138454.1.
DR AlphaFoldDB; Q96CM4; -.
DR SMR; Q96CM4; -.
DR BioGRID; 125460; 4.
DR IntAct; Q96CM4; 4.
DR STRING; 9606.ENSP00000305631; -.
DR iPTMnet; Q96CM4; -.
DR PhosphoSitePlus; Q96CM4; -.
DR BioMuta; NXNL1; -.
DR DMDM; 74731355; -.
DR MassIVE; Q96CM4; -.
DR PaxDb; Q96CM4; -.
DR PeptideAtlas; Q96CM4; -.
DR PRIDE; Q96CM4; -.
DR ProteomicsDB; 76193; -.
DR Antibodypedia; 27693; 137 antibodies from 23 providers.
DR DNASU; 115861; -.
DR Ensembl; ENST00000301944.3; ENSP00000305631.2; ENSG00000171773.3.
DR GeneID; 115861; -.
DR KEGG; hsa:115861; -.
DR MANE-Select; ENST00000301944.3; ENSP00000305631.2; NM_138454.2; NP_612463.1.
DR UCSC; uc002ngs.4; human.
DR CTD; 115861; -.
DR DisGeNET; 115861; -.
DR GeneCards; NXNL1; -.
DR HGNC; HGNC:25179; NXNL1.
DR HPA; ENSG00000171773; Tissue enriched (retina).
DR MIM; 608791; gene.
DR neXtProt; NX_Q96CM4; -.
DR OpenTargets; ENSG00000171773; -.
DR PharmGKB; PA162398383; -.
DR VEuPathDB; HostDB:ENSG00000171773; -.
DR eggNOG; KOG2501; Eukaryota.
DR GeneTree; ENSGT00940000161246; -.
DR HOGENOM; CLU_116457_0_0_1; -.
DR InParanoid; Q96CM4; -.
DR OMA; WLFLPFQ; -.
DR OrthoDB; 1624076at2759; -.
DR PhylomeDB; Q96CM4; -.
DR TreeFam; TF331873; -.
DR PathwayCommons; Q96CM4; -.
DR SignaLink; Q96CM4; -.
DR BioGRID-ORCS; 115861; 22 hits in 1073 CRISPR screens.
DR GenomeRNAi; 115861; -.
DR Pharos; Q96CM4; Tbio.
DR PRO; PR:Q96CM4; -.
DR Proteomes; UP000005640; Chromosome 19.
DR RNAct; Q96CM4; protein.
DR Bgee; ENSG00000171773; Expressed in right adrenal gland cortex and 70 other tissues.
DR Genevisible; Q96CM4; HS.
DR GO; GO:0001750; C:photoreceptor outer segment; IEA:UniProtKB-SubCell.
DR GO; GO:0045494; P:photoreceptor cell maintenance; IMP:UniProtKB.
DR InterPro; IPR029520; RdCVF.
DR InterPro; IPR012336; Thioredoxin-like_fold.
DR InterPro; IPR036249; Thioredoxin-like_sf.
DR InterPro; IPR013766; Thioredoxin_domain.
DR PANTHER; PTHR47109; PTHR47109; 1.
DR Pfam; PF13905; Thioredoxin_8; 1.
DR SUPFAM; SSF52833; SSF52833; 1.
DR PROSITE; PS51352; THIOREDOXIN_2; 1.
PE 1: Evidence at protein level;
KW Cell projection; Reference proteome.
FT CHAIN 1..212
FT /note="Nucleoredoxin-like protein 1"
FT /id="PRO_0000319543"
FT DOMAIN 1..164
FT /note="Thioredoxin"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00691"
FT REGION 191..212
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VARIANT 18
FT /note="D -> N (in dbSNP:rs773261846)"
FT /evidence="ECO:0000269|PubMed:17249548"
FT /id="VAR_083662"
FT VARIANT 64
FT /note="E -> K (in a patient with retinal dytrophy; unknown
FT pathological significance; loss of interaction with BSG;
FT loss of ability to sustain retinal cone survival;
FT dbSNP:rs150719211)"
FT /evidence="ECO:0000269|PubMed:17249548,
FT ECO:0000269|PubMed:25957687"
FT /id="VAR_083663"
FT VARIANT 92
FT /note="K -> R (in dbSNP:rs201992877)"
FT /evidence="ECO:0000269|PubMed:17249548"
FT /id="VAR_083664"
FT VARIANT 94
FT /note="M -> I (in dbSNP:rs145106863)"
FT /evidence="ECO:0000269|PubMed:17249548"
FT /id="VAR_083665"
FT VARIANT 112
FT /note="G -> W"
FT /evidence="ECO:0000269|PubMed:17249548"
FT /id="VAR_083666"
FT VARIANT 162
FT /note="N -> S (in dbSNP:rs10408265)"
FT /evidence="ECO:0000269|PubMed:17249548"
FT /id="VAR_083667"
FT VARIANT 178
FT /note="T -> I (in dbSNP:rs56084515)"
FT /evidence="ECO:0000269|PubMed:17249548"
FT /id="VAR_083668"
SQ SEQUENCE 212 AA; 23943 MW; D252BFEFAE90E44C CRC64;
MASLFSGRIL IRNNSDQDEL DTEAEVSRRL ENRLVLLFFG AGACPQCQAF VPILKDFFVR
LTDEFYVLRA AQLALVYVSQ DSTEEQQDLF LKDMPKKWLF LPFEDDLRRD LGRQFSVERL
PAVVVLKPDG DVLTRDGADE IQRLGTACFA NWQEAAEVLD RNFQLPEDLE DQEPRSLTEC
LRRHKYRVEK AARGGRDPGG GGGEEGGAGG LF
