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Photoreceptor-specific nuclear receptor (Nuclear receptor subfamily 2 group E member 3) (Retina-specific nuclear receptor)

 NR2E3_HUMAN             Reviewed;         410 AA.
Q9Y5X4; B6ZGU0; Q9UHM4;
01-DEC-2000, integrated into UniProtKB/Swiss-Prot.
01-NOV-1999, sequence version 1.
25-APR-2018, entry version 177.
RecName: Full=Photoreceptor-specific nuclear receptor;
AltName: Full=Nuclear receptor subfamily 2 group E member 3;
AltName: Full=Retina-specific nuclear receptor;
Name=NR2E3; Synonyms=PNR, RNR;
Homo sapiens (Human).
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
NCBI_TaxID=9606;
[1]
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM LONG).
TISSUE=Retinoblastoma;
PubMed=10220376; DOI=10.1073/pnas.96.9.4814;
Kobayashi M., Takezawa S., Hara K., Yu R.T., Umesono Y., Agata K.,
Taniwaki M., Yasuda K., Umesono K.;
"Identification of a photoreceptor cell-specific nuclear receptor.";
Proc. Natl. Acad. Sci. U.S.A. 96:4814-4819(1999).
[2]
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM SHORT).
TISSUE=Retina;
PubMed=10611353; DOI=10.1073/pnas.96.26.15149;
Chen F., Figueroa D.J., Marmorstein A.D., Zhang Q., Petrukhin K.,
Caskey C.T., Austin C.P.;
"Retina-specific nuclear receptor: a potential regulator of cellular
retinaldehyde-binding protein expressed in retinal pigment epithelium
and Muller glial cells.";
Proc. Natl. Acad. Sci. U.S.A. 96:15149-15154(1999).
[3]
NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORM LONG).
Rendtorf N., Vissing H., Shilahtaroglu A., Tommerup N.;
"Assignment of the photoreceptor-specific nuclear receptor (PNR) gene
to 15q22.32-q24.1 in the Bardet-Biedl Syndrome (BBS4) region.";
Submitted (MAR-2000) to the EMBL/GenBank/DDBJ databases.
[4]
NUCLEOTIDE SEQUENCE [MRNA].
Kobayashi T., Kodani Y., Sawasaki T., Endo Y.;
"Comprehensive DNA-binding analysis of human hormone nuclear receptors
by fluorescence correlation spectroscopy based on cell-free system.";
Submitted (DEC-2008) to the EMBL/GenBank/DDBJ databases.
[5]
NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L.,
Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R.,
Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V.,
Hannenhalli S., Turner R., Yooseph S., Lu F., Nusskern D.R.,
Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H.,
Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G.,
Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W.,
Venter J.C.;
Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases.
[6]
INTERACTION WITH CRX, SUBCELLULAR LOCATION, TISSUE SPECIFICITY, AND
FUNCTION.
PubMed=15689355; DOI=10.1093/hmg/ddi070;
Peng G.H., Ahmad O., Ahmad F., Liu J., Chen S.;
"The photoreceptor-specific nuclear receptor Nr2e3 interacts with Crx
and exerts opposing effects on the transcription of rod versus cone
genes.";
Hum. Mol. Genet. 14:747-764(2005).
[7]
X-RAY CRYSTALLOGRAPHY (2.7 ANGSTROMS) OF 217-410, SUBUNIT, MUTAGENESIS
OF LEU-372 AND LEU-375, FUNCTION, CHARACTERIZATION OF VARIANT
ASSOCIATED WITH ESCS GLY-334, AND CHARACTERIZATION OF VARIANTS ESCS
PRO-263; GLY-309; GLN-311; PRO-336; VAL-353 AND LYS-407.
PubMed=24069298; DOI=10.1371/journal.pone.0074359;
Tan M.H., Zhou X.E., Soon F.F., Li X., Li J., Yong E.L., Melcher K.,
Xu H.E.;
"The crystal structure of the orphan nuclear receptor NR2E3/PNR ligand
binding domain reveals a dimeric auto-repressed conformation.";
PLoS ONE 8:E74359-E74359(2013).
[8]
VARIANT ESCS GLN-311, AND CHARACTERIZATION OF VARIANT ESCS GLN-311.
PubMed=11071390; DOI=10.1007/s004390000350;
Gerber S., Rozet J.-M., Takezawa S., dos Santos L.C., Lopes L.,
Gribouval O., Penet C., Perrault I., Ducroq D., Souied E.,
Jeanpierre M., Romana S., Frezal J., Ferraz F., Yu-Umesono R.,
Munnich A., Kaplan J.;
"The photoreceptor cell-specific nuclear receptor gene (PNR) accounts
for retinitis pigmentosa in the Crypto-Jews from Portugal (Marranos),
survivors from the Spanish Inquisition.";
Hum. Genet. 107:276-284(2000).
[9]
VARIANTS ESCS 67-CYS--GLY-69 DEL; GLN-76; TRP-76; HIS-97; TRP-104;
LYS-121; SER-234; GLY-309; GLN-311; PRO-385 AND LYS-407, AND VARIANTS
GLY-140; THR-163; ILE-232 AND ILE-302.
PubMed=10655056; DOI=10.1038/72777;
Haider N.B., Jacobson S.G., Cideciyan A.V., Swiderski R., Streb L.M.,
Searby C., Beck G., Hockey R., Hanna D.B., Gorman S., Duhl D.,
Carmi R., Bennett J., Weleber R.G., Fishman G.A., Wright A.F.,
Stone E.M., Sheffield V.C.;
"Mutation of a nuclear receptor gene, NR2E3, causes enhanced S cone
syndrome, a disorder of retinal cell fate.";
Nat. Genet. 24:127-131(2000).
[10]
VARIANTS ESCS 67-CYS--GLY-69 DEL; HIS-97; GLU-256 AND GLN-311.
PubMed=12963616; DOI=10.1001/archopht.121.9.1316;
Sharon D., Sandberg M.A., Caruso R.C., Berson E.L., Dryja T.P.;
"Shared mutations in NR2E3 in enhanced S-cone syndrome, Goldmann-Favre
syndrome, and many cases of clumped pigmentary retinal degeneration.";
Arch. Ophthalmol. 121:1316-1323(2003).
[11]
VARIANTS ESCS 67-CYS--GLY-69 DEL; VAL-88; HIS-97; TRP-104; SER-234;
GLU-256; PRO-263; GLY-309; GLN-311; PRO-336; VAL-353 AND LYS-407.
PubMed=15459973; DOI=10.1002/humu.9285;
Wright A.F., Reddick A.C., Schwartz S.B., Ferguson J.S., Aleman T.S.,
Kellner U., Jurklies B., Schuster A., Zrenner E., Wissinger B.,
Lennon A., Shu X., Cideciyan A.V., Stone E.M., Jacobson S.G.,
Swaroop A.;
"Mutation analysis of NR2E3 and NRL genes in enhanced S cone
syndrome.";
Hum. Mutat. 24:439-439(2004).
[12]
VARIANTS GLN-104 AND GLY-334, AND ASSOCIATION OF VARIANTS GLN-104 AND
GLY-334 WITH ESCS.
PubMed=16225923; DOI=10.1016/j.ophtha.2005.07.002;
Hayashi T., Gekka T., Goto-Omoto S., Takeuchi T., Kubo A.,
Kitahara K.;
"Novel NR2E3 mutations (R104Q, R334G) associated with a mild form of
enhanced S-cone syndrome demonstrate compound heterozygosity.";
Ophthalmology 112:2115-2115(2005).
[13]
VARIANT RP37 ARG-56.
PubMed=17564971; DOI=10.1086/518426;
Coppieters F., Leroy B.P., Beysen D., Hellemans J., De Bosscher K.,
Haegeman G., Robberecht K., Wuyts W., Coucke P.J., De Baere E.;
"Recurrent mutation in the first zinc finger of the orphan nuclear
receptor NR2E3 causes autosomal dominant retinitis pigmentosa.";
Am. J. Hum. Genet. 81:147-157(2007).
[14]
VARIANT ESCS GLN-311, AND VARIANTS LEU-44; GLY-140; THR-163; SER-287
AND ARG-324.
PubMed=18294254; DOI=10.1111/j.1399-0004.2008.00963.x;
Bernal S., Solans T., Gamundi M.J., Hernan I., de Jorge L.,
Carballo M., Navarro R., Tizzano E., Ayuso C., Baiget M.;
"Analysis of the involvement of the NR2E3 gene in autosomal recessive
retinal dystrophies.";
Clin. Genet. 73:360-366(2008).
[15]
VARIANT RP37 ARG-56, AND VARIANT ESCS GLN-311.
PubMed=19006237; DOI=10.1002/humu.20858;
Escher P., Gouras P., Roduit R., Tiab L., Bolay S., Delarive T.,
Chen S., Tsai C.C., Hayashi M., Zernant J., Merriam J.E., Mermod N.,
Allikmets R., Munier F.L., Schorderet D.F.;
"Mutations in NR2E3 can cause dominant or recessive retinal
degenerations in the same family.";
Hum. Mutat. 30:342-351(2009).
-!- FUNCTION: Orphan nuclear receptor of retinal photoreceptor cells.
Transcriptional factor that is an activator of rod development and
repressor of cone development. Binds the promoter region of a
number of rod- and cone-specific genes, including rhodopsin,
M- and S-opsin and rod-specific phosphodiesterase beta subunit.
Enhances rhodopsin expression. Represses M- and S-cone opsin
expression. {ECO:0000269|PubMed:15689355,
ECO:0000269|PubMed:24069298}.
-!- SUBUNIT: Homodimer. Interacts with PIAS3; the interaction
sumoylates NR2E3 and promotes repression of cone-specific gene
transcription and activation of rod-specific genes (By
similarity). Component of a complex that includes NR2E3, PIAS3,
NRL, CRX and/or NR1D1. Binds NR1D1. Binds direcly in the complex
with CRX, PIAS3 and NR1D1 (By similarity). Interacts (via the DNA-
binding domain) with CRX (via its DNA binding domain); the
interaction represses S- and M-cone opsin expression.
{ECO:0000250, ECO:0000269|PubMed:15689355,
ECO:0000269|PubMed:24069298}.
-!- SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-
ProRule:PRU00407, ECO:0000269|PubMed:15689355}.
-!- ALTERNATIVE PRODUCTS:
Event=Alternative splicing; Named isoforms=2;
Name=Long;
IsoId=Q9Y5X4-1; Sequence=Displayed;
Name=Short;
IsoId=Q9Y5X4-2; Sequence=VSP_003679;
-!- TISSUE SPECIFICITY: Eye specific; found solely in the outer
nuclear layer of the adult neurosensory retina, where the nuclei
of cone and rod photoreceptors reside.
{ECO:0000269|PubMed:15689355}.
-!- PTM: Di- and tri-sumoylated in developing retina. PIAS3-mediated
sumoylation promotes repression of cone-specific gene expression
and activation of rod-specific genes. Sumoylation on Lys-185
appears to be the main site (By similarity). {ECO:0000250}.
-!- DISEASE: Enhanced S cone syndrome (ESCS) [MIM:268100]: Autosomal
recessive retinopathy in which patients have increased sensitivity
to blue light; perception of blue light is mediated by what is
normally the least populous cone photoreceptor subtype, the S
(short wavelength, blue) cones. ESCS is also associated with
visual loss, with night blindness occurring from early in life,
varying degrees of L (long, red)- and M (middle, green)-cone
vision, and retinal degeneration. {ECO:0000269|PubMed:10655056,
ECO:0000269|PubMed:11071390, ECO:0000269|PubMed:12963616,
ECO:0000269|PubMed:15459973, ECO:0000269|PubMed:16225923,
ECO:0000269|PubMed:18294254, ECO:0000269|PubMed:19006237,
ECO:0000269|PubMed:24069298}. Note=The disease is caused by
mutations affecting the gene represented in this entry.
-!- DISEASE: Retinitis pigmentosa 37 (RP37) [MIM:611131]: A retinal
dystrophy belonging to the group of pigmentary retinopathies.
Retinitis pigmentosa is characterized by retinal pigment deposits
visible on fundus examination and primary loss of rod
photoreceptor cells followed by secondary loss of cone
photoreceptors. Patients typically have night vision blindness and
loss of midperipheral visual field. As their condition progresses,
they lose their far peripheral visual field and eventually central
vision as well. {ECO:0000269|PubMed:17564971,
ECO:0000269|PubMed:19006237}. Note=The disease is caused by
mutations affecting the gene represented in this entry.
-!- SIMILARITY: Belongs to the nuclear hormone receptor family. NR2
subfamily. {ECO:0000305}.
-!- WEB RESOURCE: Name=Mutations of the NR2E3 gene; Note=Retina
International's Scientific Newsletter;
URL="http://www.retina-international.org/files/sci-news/nr2e3mut.htm";
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EMBL; AF121129; AAD28301.1; -; mRNA.
EMBL; AF148128; AAF22227.1; -; mRNA.
EMBL; AJ276674; CAB82769.1; -; Genomic_DNA.
EMBL; AB307710; BAH02301.1; -; mRNA.
EMBL; CH471082; EAW77876.1; -; Genomic_DNA.
CCDS; CCDS73750.1; -. [Q9Y5X4-1]
CCDS; CCDS73751.1; -. [Q9Y5X4-2]
RefSeq; NP_055064.1; NM_014249.3. [Q9Y5X4-1]
RefSeq; NP_057430.1; NM_016346.3. [Q9Y5X4-2]
UniGene; Hs.187354; -.
UniGene; Hs.636007; -.
PDB; 4LOG; X-ray; 2.70 A; A/B=217-410.
PDBsum; 4LOG; -.
ProteinModelPortal; Q9Y5X4; -.
SMR; Q9Y5X4; -.
BioGrid; 115320; 19.
IntAct; Q9Y5X4; 1.
BindingDB; Q9Y5X4; -.
ChEMBL; CHEMBL4374; -.
iPTMnet; Q9Y5X4; -.
PhosphoSitePlus; Q9Y5X4; -.
BioMuta; NR2E3; -.
DMDM; 8928275; -.
PeptideAtlas; Q9Y5X4; -.
PRIDE; Q9Y5X4; -.
DNASU; 10002; -.
Ensembl; ENST00000617575; ENSP00000482504; ENSG00000278570. [Q9Y5X4-1]
Ensembl; ENST00000621098; ENSP00000479962; ENSG00000278570. [Q9Y5X4-2]
GeneID; 10002; -.
KEGG; hsa:10002; -.
UCSC; uc032cik.2; human. [Q9Y5X4-1]
CTD; 10002; -.
DisGeNET; 10002; -.
EuPathDB; HostDB:ENSG00000278570.4; -.
GeneCards; NR2E3; -.
GeneReviews; NR2E3; -.
HGNC; HGNC:7974; NR2E3.
MalaCards; NR2E3; -.
MIM; 268100; phenotype.
MIM; 604485; gene.
MIM; 611131; phenotype.
neXtProt; NX_Q9Y5X4; -.
OpenTargets; ENSG00000278570; -.
Orphanet; 53540; Goldmann-Favre syndrome.
Orphanet; 791; Retinitis pigmentosa.
PharmGKB; PA31757; -.
GeneTree; ENSGT00760000118948; -.
HOGENOM; HOG000260820; -.
HOVERGEN; HBG005606; -.
InParanoid; Q9Y5X4; -.
KO; K08546; -.
OMA; HHHFMAS; -.
OrthoDB; EOG091G0AV3; -.
PhylomeDB; Q9Y5X4; -.
Reactome; R-HSA-383280; Nuclear Receptor transcription pathway.
SignaLink; Q9Y5X4; -.
SIGNOR; Q9Y5X4; -.
GeneWiki; Photoreceptor_cell-specific_nuclear_receptor; -.
GenomeRNAi; 10002; -.
PRO; PR:Q9Y5X4; -.
Proteomes; UP000005640; Chromosome 15.
Bgee; ENSG00000278570; -.
CleanEx; HS_NR2E3; -.
ExpressionAtlas; Q9Y5X4; baseline and differential.
Genevisible; Q9Y5X4; HS.
GO; GO:0005654; C:nucleoplasm; TAS:Reactome.
GO; GO:0005634; C:nucleus; TAS:ProtInc.
GO; GO:0005667; C:transcription factor complex; IEA:Ensembl.
GO; GO:0004879; F:nuclear receptor activity; TAS:ProtInc.
GO; GO:0000978; F:RNA polymerase II proximal promoter sequence-specific DNA binding; IDA:NTNU_SB.
GO; GO:0043565; F:sequence-specific DNA binding; IDA:NTNU_SB.
GO; GO:0003707; F:steroid hormone receptor activity; IEA:InterPro.
GO; GO:0001077; F:transcriptional activator activity, RNA polymerase II proximal promoter sequence-specific DNA binding; IC:NTNU_SB.
GO; GO:0001228; F:transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific DNA binding; IC:NTNU_SB.
GO; GO:0008270; F:zinc ion binding; IEA:InterPro.
GO; GO:0042462; P:eye photoreceptor cell development; IEA:Ensembl.
GO; GO:0008285; P:negative regulation of cell proliferation; IEA:Ensembl.
GO; GO:0000122; P:negative regulation of transcription by RNA polymerase II; IEA:Ensembl.
GO; GO:0007602; P:phototransduction; TAS:ProtInc.
GO; GO:0045872; P:positive regulation of rhodopsin gene expression; IEA:Ensembl.
GO; GO:0045944; P:positive regulation of transcription by RNA polymerase II; IDA:NTNU_SB.
GO; GO:0060041; P:retina development in camera-type eye; IEA:Ensembl.
GO; GO:0007165; P:signal transduction; TAS:ProtInc.
GO; GO:0006366; P:transcription by RNA polymerase II; TAS:ProtInc.
GO; GO:0006367; P:transcription initiation from RNA polymerase II promoter; TAS:Reactome.
GO; GO:0007601; P:visual perception; TAS:ProtInc.
Gene3D; 3.30.50.10; -; 1.
InterPro; IPR035500; NHR_like_dom_sf.
InterPro; IPR000536; Nucl_hrmn_rcpt_lig-bd.
InterPro; IPR001723; Nuclear_hrmn_rcpt.
InterPro; IPR000003; Retinoid-X_rcpt/HNF4.
InterPro; IPR001628; Znf_hrmn_rcpt.
InterPro; IPR013088; Znf_NHR/GATA.
Pfam; PF00104; Hormone_recep; 1.
Pfam; PF00105; zf-C4; 1.
PRINTS; PR00545; RETINOIDXR.
PRINTS; PR00398; STRDHORMONER.
PRINTS; PR00047; STROIDFINGER.
SMART; SM00430; HOLI; 1.
SMART; SM00399; ZnF_C4; 1.
SUPFAM; SSF48508; SSF48508; 2.
PROSITE; PS51843; NR_LBD; 1.
PROSITE; PS00031; NUCLEAR_REC_DBD_1; 1.
PROSITE; PS51030; NUCLEAR_REC_DBD_2; 1.
1: Evidence at protein level;
3D-structure; Alternative splicing; Complete proteome;
Disease mutation; DNA-binding; Isopeptide bond; Metal-binding;
Nucleus; Polymorphism; Receptor; Reference proteome; Repressor;
Retinitis pigmentosa; Sensory transduction; Transcription;
Transcription regulation; Ubl conjugation; Vision; Zinc; Zinc-finger.
CHAIN 1 410 Photoreceptor-specific nuclear receptor.
/FTId=PRO_0000053599.
DOMAIN 169 410 NR LBD. {ECO:0000255|PROSITE-
ProRule:PRU01189}.
DNA_BIND 44 120 Nuclear receptor. {ECO:0000255|PROSITE-
ProRule:PRU00407}.
ZN_FING 47 67 NR C4-type. {ECO:0000255|PROSITE-
ProRule:PRU00407}.
ZN_FING 83 108 NR C4-type. {ECO:0000255|PROSITE-
ProRule:PRU00407}.
COMPBIAS 371 375 Poly-Leu.
CROSSLNK 185 185 Glycyl lysine isopeptide (Lys-Gly)
(interchain with G-Cter in SUMO).
{ECO:0000250}.
CROSSLNK 330 330 Glycyl lysine isopeptide (Lys-Gly)
(interchain with G-Cter in SUMO).
{ECO:0000250}.
CROSSLNK 337 337 Glycyl lysine isopeptide (Lys-Gly)
(interchain with G-Cter in SUMO).
{ECO:0000250}.
VAR_SEQ 368 410 Missing (in isoform Short).
{ECO:0000303|PubMed:10611353}.
/FTId=VSP_003679.
VARIANT 44 44 S -> L (associated with autosomal
recessive retinitis pigmentosa;
dbSNP:rs202098481).
{ECO:0000269|PubMed:18294254}.
/FTId=VAR_062768.
VARIANT 56 56 G -> R (in RP37; dbSNP:rs121912631).
{ECO:0000269|PubMed:17564971,
ECO:0000269|PubMed:19006237}.
/FTId=VAR_037026.
VARIANT 67 69 Missing (in ESCS).
{ECO:0000269|PubMed:10655056,
ECO:0000269|PubMed:12963616,
ECO:0000269|PubMed:15459973}.
/FTId=VAR_009265.
VARIANT 76 76 R -> Q (in ESCS; dbSNP:rs104894493).
{ECO:0000269|PubMed:10655056}.
/FTId=VAR_009266.
VARIANT 76 76 R -> W (in ESCS; dbSNP:rs104894492).
{ECO:0000269|PubMed:10655056}.
/FTId=VAR_009267.
VARIANT 88 88 G -> V (in ESCS).
{ECO:0000269|PubMed:15459973}.
/FTId=VAR_020839.
VARIANT 97 97 R -> H (in ESCS).
{ECO:0000269|PubMed:10655056,
ECO:0000269|PubMed:12963616,
ECO:0000269|PubMed:15459973}.
/FTId=VAR_010025.
VARIANT 104 104 R -> Q (associated with ESCS;
dbSNP:rs766096417).
{ECO:0000269|PubMed:16225923}.
/FTId=VAR_062769.
VARIANT 104 104 R -> W (in ESCS; dbSNP:rs990307718).
{ECO:0000269|PubMed:10655056,
ECO:0000269|PubMed:15459973}.
/FTId=VAR_010026.
VARIANT 121 121 E -> K (in ESCS; dbSNP:rs146403122).
{ECO:0000269|PubMed:10655056}.
/FTId=VAR_010027.
VARIANT 140 140 E -> G (in dbSNP:rs1805020).
{ECO:0000269|PubMed:10655056,
ECO:0000269|PubMed:18294254}.
/FTId=VAR_010028.
VARIANT 163 163 M -> T (in dbSNP:rs1805021).
{ECO:0000269|PubMed:10655056,
ECO:0000269|PubMed:18294254}.
/FTId=VAR_010029.
VARIANT 232 232 V -> I (in dbSNP:rs1805023).
{ECO:0000269|PubMed:10655056}.
/FTId=VAR_010030.
VARIANT 234 234 W -> S (in ESCS).
{ECO:0000269|PubMed:10655056,
ECO:0000269|PubMed:15459973}.
/FTId=VAR_010031.
VARIANT 256 256 A -> E (in ESCS; dbSNP:rs377257254).
{ECO:0000269|PubMed:12963616,
ECO:0000269|PubMed:15459973}.
/FTId=VAR_020840.
VARIANT 263 263 L -> P (in ESCS; impairs protein
folding). {ECO:0000269|PubMed:15459973,
ECO:0000269|PubMed:24069298}.
/FTId=VAR_020841.
VARIANT 287 287 G -> S (associated with autosomal
recessive retinitis pigmentosa;
dbSNP:rs764901119).
{ECO:0000269|PubMed:18294254}.
/FTId=VAR_062770.
VARIANT 302 302 V -> I (in dbSNP:rs1805025).
{ECO:0000269|PubMed:10655056}.
/FTId=VAR_010032.
VARIANT 309 309 R -> G (in ESCS; impairs protein folding
and stability).
{ECO:0000269|PubMed:10655056,
ECO:0000269|PubMed:15459973,
ECO:0000269|PubMed:24069298}.
/FTId=VAR_010033.
VARIANT 311 311 R -> Q (in ESCS; impairs protein folding
and stability and hinders the ability to
form stable dimers; dbSNP:rs28937873).
{ECO:0000269|PubMed:10655056,
ECO:0000269|PubMed:11071390,
ECO:0000269|PubMed:12963616,
ECO:0000269|PubMed:15459973,
ECO:0000269|PubMed:18294254,
ECO:0000269|PubMed:19006237,
ECO:0000269|PubMed:24069298}.
/FTId=VAR_010034.
VARIANT 324 324 K -> R (associated with autosomal
recessive retinitis pigmentosa).
{ECO:0000269|PubMed:18294254}.
/FTId=VAR_062771.
VARIANT 334 334 R -> G (associated with ESCS; impairs
protein folding and stability).
{ECO:0000269|PubMed:16225923,
ECO:0000269|PubMed:24069298}.
/FTId=VAR_062772.
VARIANT 336 336 L -> P (in ESCS; impairs protein folding
and stability; dbSNP:rs752883545).
{ECO:0000269|PubMed:15459973,
ECO:0000269|PubMed:24069298}.
/FTId=VAR_020842.
VARIANT 353 353 L -> V (in ESCS; impairs protein folding
and stability).
{ECO:0000269|PubMed:15459973,
ECO:0000269|PubMed:24069298}.
/FTId=VAR_020843.
VARIANT 385 385 R -> P (in ESCS; dbSNP:rs766769900).
{ECO:0000269|PubMed:10655056}.
/FTId=VAR_010035.
VARIANT 407 407 M -> K (in ESCS; impairs protein folding
and stability).
{ECO:0000269|PubMed:10655056,
ECO:0000269|PubMed:15459973,
ECO:0000269|PubMed:24069298}.
/FTId=VAR_010036.
MUTAGEN 372 372 L->R: Reduces transcription repressor
activity. {ECO:0000269|PubMed:24069298}.
MUTAGEN 375 375 L->R: Reduces transcription repressor
activity. {ECO:0000269|PubMed:24069298}.
STRAND 217 219 {ECO:0000244|PDB:4LOG}.
HELIX 220 237 {ECO:0000244|PDB:4LOG}.
HELIX 239 242 {ECO:0000244|PDB:4LOG}.
HELIX 246 255 {ECO:0000244|PDB:4LOG}.
HELIX 257 268 {ECO:0000244|PDB:4LOG}.
STRAND 270 273 {ECO:0000244|PDB:4LOG}.
HELIX 295 312 {ECO:0000244|PDB:4LOG}.
HELIX 317 328 {ECO:0000244|PDB:4LOG}.
HELIX 339 360 {ECO:0000244|PDB:4LOG}.
HELIX 367 372 {ECO:0000244|PDB:4LOG}.
HELIX 373 376 {ECO:0000244|PDB:4LOG}.
HELIX 377 380 {ECO:0000244|PDB:4LOG}.
HELIX 383 390 {ECO:0000244|PDB:4LOG}.
HELIX 399 408 {ECO:0000244|PDB:4LOG}.
SEQUENCE 410 AA; 44692 MW; D49525830ED0A000 CRC64;
METRPTALMS STVAAAAPAA GAASRKESPG RWGLGEDPTG VSPSLQCRVC GDSSSGKHYG
IYACNGCSGF FKRSVRRRLI YRCQVGAGMC PVDKAHRNQC QACRLKKCLQ AGMNQDAVQN
ERQPRSTAQV HLDSMESNTE SRPESLVAPP APAGRSPRGP TPMSAARALG HHFMASLITA
ETCAKLEPED ADENIDVTSN DPEFPSSPYS SSSPCGLDSI HETSARLLFM AVKWAKNLPV
FSSLPFRDQV ILLEEAWSEL FLLGAIQWSL PLDSCPLLAP PEASAAGGAQ GRLTLASMET
RVLQETISRF RALAVDPTEF ACMKALVLFK PETRGLKDPE HVEALQDQSQ VMLSQHSKAH
HPSQPVRFGK LLLLLPSLRF ITAERIELLF FRKTIGNTPM EKLLCDMFKN


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