Photoreceptor cell-specific nuclear receptor

Photoreceptor cell-specific nuclear receptor: Nuclear receptor subfamily 2, group E, member 3

Identifiers

Symbols NR2E3; ESCS; MGC49976; PNR; RNR; RP37; rd7

External IDs OMIM: 604485 MGI: 1346317 HomoloGene: 84397 IUPHAR: NR2E3 GeneCards: NR2E3 Gene

Gene Ontology

Molecular function • sequence-specific DNA binding transcription factor activity
• steroid hormone receptor activity
• ligand-dependent nuclear receptor activity
• steroid binding
• zinc ion binding
• sequence-specific DNA binding
• metal ion binding

Cellular component • nucleus
• nucleoplasm

Biological process • transcription from RNA polymerase II promoter
• signal transduction
• visual perception
• phototransduction
• gene expression
• regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor
• response to stimulus

Sources: Amigo / QuickGO

RNA expression pattern

More reference expression data

Orthologs

Species Human Mouse

Entrez 10002 23958

Ensembl ENSG00000031544 ENSMUSG00000032292

UniProt Q9Y5X4 Q543C7

RefSeq (mRNA) NM_014249.2 NM_013708.4

RefSeq (protein) NP_055064.1 NP_038736.1

Location (UCSC) Chr 15:
72.08 – 72.11 Mb Chr 9:
59.79 – 59.81 Mb

PubMed search [1] [2]

The photoreceptor cell-specific nuclear receptor (PNR), also known as NR2E3 (nuclear receptor subfamily 2, group E, member 3), is a protein that in humans is encoded by the NR2E3 gene.^[1] PNR is a member of the nuclear receptor super family of intracellular transcription factors.

Contents

1 Function

2 Clinical significance

3 References

4 Further reading

5 External links

Function

PNR is exclusively expressed in the retina. The main target genes of PNR are rhodopsin and several opsins which are essential for sight.^[2]

Clinical significance

Mutations in the NR2E3 gene have been linked to several inherited retinal diseases, including enhanced S-cone syndrome (ESCS),^[3] a form of retinitis pigmentosa,^[4] and Goldmann-Favre syndrome.^[5]

References

^ Kobayashi M, Takezawa S, Hara K, Yu RT, Umesono Y, Agata K, Taniwaki M, Yasuda K, Umesono K (1999). "Identification of a photoreceptor cell-specific nuclear receptor". Proc. Natl. Acad. Sci. U.S.A. 96 (9): 4814–9. doi:10.1073/pnas.96.9.4814. PMC 21774. PMID 10220376. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=21774.

^ Milam AH, Rose L, Cideciyan AV, Barakat MR, Tang WX, Gupta N, Aleman TS, Wright AF, Stone EM, Sheffield VC, Jacobson SG (2002). "The nuclear receptor NR2E3 plays a role in human retinal photoreceptor differentiation and degeneration". Proc. Natl. Acad. Sci. U.S.A. 99 (1): 473–8. doi:10.1073/pnas.022533099. PMC 117584. PMID 11773633. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=117584.

^ Haider NB, Jacobson SG, Cideciyan AV, Swiderski R, Streb LM, Searby C, Beck G, Hockey R, Hanna DB, Gorman S, Duhl D, Carmi R, Bennett J, Weleber RG, Fishman GA, Wright AF, Stone EM, Sheffield VC (2000). "Mutation of a nuclear receptor gene, NR2E3, causes enhanced S cone syndrome, a disorder of retinal cell fate". Nat. Genet. 24 (2): 127–31. doi:10.1038/72777. PMID 10655056.

^ Gerber S, Rozet JM, Takezawa SI, dos Santos LC, Lopes L, Gribouval O, Penet C, Perrault I, Ducroq D, Souied E, Jeanpierre M, Romana S, Frézal J, Ferraz F, Yu-Umesono R, Munnich A, Kaplan J (2000). "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 (3): 276–84. doi:10.1007/s004390000350. PMID 11071390.

^ Chavala SH, Sari A, Lewis H, Pauer GJ, Simpson E, Hagstrom SA, Traboulsi EI (2005). "An Arg311Gln NR2E3 mutation in a family with classic Goldmann-Favre syndrome". The British journal of ophthalmology 89 (8): 1065–6. doi:10.1136/bjo.2005.068130. PMC 1772771. PMID 16024868. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=1772771.

Further reading

Chen F, Figueroa DJ, Marmorstein AD, et al. (2000). "Retina-specific nuclear receptor: A potential regulator of cellular retinaldehyde-binding protein expressed in retinal pigment epithelium and Müller glial cells.". Proc. Natl. Acad. Sci. U.S.A. 96 (26): 15149–54. doi:10.1073/pnas.96.26.15149. PMC 24788. PMID 10611353. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=24788.

Haider NB, Jacobson SG, Cideciyan AV, et al. (2000). "Mutation of a nuclear receptor gene, NR2E3, causes enhanced S cone syndrome, a disorder of retinal cell fate.". Nat. Genet. 24 (2): 127–31. doi:10.1038/72777. PMID 10655056.

Rendtorff ND, Vissing H, Tümer Z, et al. (2000). "Assignment of the NR2E3 gene to mouse chromosome 9 and to human chromosome 15q22.33→q23.". Cytogenet. Cell Genet. 89 (3–4): 279–80. doi:10.1159/000015635. PMID 10965145.

Gerber S, Rozet JM, Takezawa SI, et al. (2000). "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 (3): 276–84. doi:10.1007/s004390000350. PMID 11071390.

Haider NB, Naggert JK, Nishina PM (2001). "Excess cone cell proliferation due to lack of a functional NR2E3 causes retinal dysplasia and degeneration in rd7/rd7 mice". Hum. Mol. Genet. 10 (16): 1619–26. doi:10.1093/hmg/10.16.1619. PMID 11487564.

Milam AH, Rose L, Cideciyan AV, et al. (2002). "The nuclear receptor NR2E3 plays a role in human retinal photoreceptor differentiation and degeneration". Proc. Natl. Acad. Sci. U.S.A. 99 (1): 473–8. doi:10.1073/pnas.022533099. PMC 117584. PMID 11773633. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=117584.

Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=139241.

Sharon D, Sandberg MA, Caruso RC, et al. (2003). "Shared mutations in NR2E3 in enhanced S-cone syndrome, Goldmann-Favre syndrome, and many cases of clumped pigmentary retinal degeneration". Arch. Ophthalmol. 121 (9): 1316–23. doi:10.1001/archopht.121.9.1316. PMID 12963616.

Cheng H, Khanna H, Oh EC, et al. (2005). "Photoreceptor-specific nuclear receptor NR2E3 functions as a transcriptional activator in rod photoreceptors". Hum. Mol. Genet. 13 (15): 1563–75. doi:10.1093/hmg/ddh173. PMID 15190009.

Bumsted O'Brien KM, Cheng H, Jiang Y, et al. (2004). "Expression of photoreceptor-specific nuclear receptor NR2E3 in rod photoreceptors of fetal human retina". Invest. Ophthalmol. Vis. Sci. 45 (8): 2807–12. doi:10.1167/iovs.03-1317. PMID 15277507.

Wright AF, Reddick AC, Schwartz SB, et al. (2005). "Mutation analysis of NR2E3 and NRL genes in Enhanced S Cone Syndrome". Hum. Mutat. 24 (5): 439. doi:10.1002/humu.9285. PMID 15459973.

Chen J, Rattner A, Nathans J (2005). "The rod photoreceptor-specific nuclear receptor Nr2e3 represses transcription of multiple cone-specific genes". J. Neurosci. 25 (1): 118–29. doi:10.1523/JNEUROSCI.3571-04.2005. PMID 15634773.

Peng GH, Ahmad O, Ahmad F, et al. (2005). "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 (6): 747–64. doi:10.1093/hmg/ddi070. PMID 15689355.

Hayashi T, Gekka T, Goto-Omoto S, et al. (2005). "Novel NR2E3 mutations (R104Q, R334G) associated with a mild form of enhanced S-cone syndrome demonstrate compound heterozygosity". Ophthalmology 112 (12): 2115. doi:10.1016/j.ophtha.2005.07.002. PMID 16225923.

Olsen JV, Blagoev B, Gnad F, et al. (2006). "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks". Cell 127 (3): 635–48. doi:10.1016/j.cell.2006.09.026. PMID 17081983.

Coppieters F, Leroy BP, Beysen D, et al. (2007). "Recurrent mutation in the first zinc finger of the orphan nuclear receptor NR2E3 causes autosomal dominant retinitis pigmentosa". Am. J. Hum. Genet. 81 (1): 147–57. doi:10.1086/518426. PMC 1950922. PMID 17564971. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=1950922.

External links

MeSH NR2E3+protein,+human

v · d · eTranscription factors and intracellular receptors

(1) Basic domains

(1.1) Basic leucine zipper (bZIP)

Activating transcription factor (AATF, 1, 2, 3, 4, 5, 6, 7) · AP-1 (c-Fos, FOSB, FOSL1, FOSL2, JDP2, c-Jun, JUNB, JUND) · BACH (1, 2) · BATF · BLZF1 · C/EBP (α, β, γ, δ, ε, ζ) · CREB (1, 3, L1) · CREM · DBP · DDIT3 · GABPA · HLF · MAF (B, F, G, K) · NFE (2, L1, L2, L3) · NFIL3 · NRL · NRF (1, 2, 3) · XBP1

(1.2) Basic helix-loop-helix (bHLH)

ATOH1 · AhR · AHRR · ARNT · ASCL1 · BHLHB2 · BMAL (ARNTL, ARNTL2) · CLOCK · EPAS1 · FIGLA · HAND (1, 2) · HES (5, 6) · HEY (1, 2, L) · HES1 · HIF (1A, 3A) · ID (1, 2, 3, 4) · LYL1 · MESP2 · MXD4 · MYCL1 · MYCN · Myogenic regulatory factors (MyoD, Myogenin, MYF5, MYF6) · Neurogenins (1, 2, 3) · NeuroD (1, 2) · NPAS (1, 2, 3) · OLIG (1, 2) · Pho4 · Scleraxis · SIM (1, 2) · TAL (1, 2) · Twist · USF1

(1.3) bHLH-ZIP

AP-4 · MAX · MITF · MNT · MLX · MXI1 · Myc · SREBP (1, 2)

(1.4) NF-1

NFI (A, B, C, X) · SMAD (R-SMAD (1, 2, 3, 5, 9) - I-SMAD (6, 7) - 4)

(1.5) RF-X

RFX (1, 2, 3, 4, 5, ANK)

(1.6) Basic helix-span-helix (bHSH)

AP-2 (α, β, γ, δ, ε)

(2) Zinc finger DNA-binding domains

(2.1) Nuclear receptor (Cys₄)

subfamily 1 (Thyroid hormone (α, β), CAR, FXR, LXR (α, β), PPAR (α, β/δ, γ), PXR, RAR (α, β, γ), ROR (α, β, γ), Rev-ErbA (α, β), VDR)
subfamily 2 (COUP-TF (I, II), Ear-2, HNF4 (α, γ), PNR, RXR (α, β, γ), Testicular receptor (2, 4), TLX)
subfamily 3 (Steroid hormone (Androgen, Estrogen (α, β), Glucocorticoid, Mineralocorticoid, Progesterone), Estrogen related (α, β, γ))
subfamily 4 NUR (NGFIB, NOR1, NURR1) · subfamily 5 (LRH-1, SF1) · subfamily 6 (GCNF) · subfamily 0 (DAX1, SHP)

(2.2) Other Cys₄

GATA (1, 2, 3, 4, 5, 6) · MTA (1, 2, 3) · TRPS1

(2.3) Cys₂His₂

General transcription factors (TFIIA, TFIIB, TFIID, TFIIE (1, 2), TFIIF (1, 2), TFIIH (1, 2, 4, 2I, 3A, 3C1, 3C2))
ATBF1 · BCL (6, 11A, 11B) · CTCF · E4F1 · EGR (1, 2, 3, 4) · ERV3 · GFI1 · GLI-Krüppel family (1, 2, 3, REST, S2, YY1) · HIC (1, 2) · HIVEP (1, 2, 3) · IKZF (1, 2, 3) · ILF (2, 3) · KLF (2, 3, 4, 5, 6, 7, 8, 9, 10, 11, 12, 13, 14, 15, 17) · MTF1 · MYT1 · OSR1 · PRDM9 · SALL (1, 2, 3, 4) · SP (1, 2, 4, 7, 8) · TSHZ3 · WT1 · Zbtb7 (7A, 7B) · ZBTB (16, 17, 20, 32, 33, 40) · zinc finger (3, 7, 9, 10, 19, 22, 24, 33B, 34, 35, 41, 43, 44, 51, 74, 143, 146, 148, 165, 202, 217, 219, 238, 239, 259, 267, 268, 281, 295, 300, 318, 330, 346, 350, 365, 366, 384, 423, 451, 452, 471, 593, 638, 644, 649, 655)

(2.4) Cys₆

HIVEP1

(2.5) Alternating composition

AIRE · DIDO1 · GRLF1 · ING (1, 2, 4) · JARID (1A, 1B, 1C, 1D, 2) · JMJD1B

(3) Helix-turn-helix domains

(3.1) Homeodomain

ARX · CDX (1, 2) · CRX · CUTL1 · DBX (1, 2) · DLX (3, 4, 5) · EMX2 · EN (1, 2) · FHL (1, 2, 3) · HESX1 · HHEX · HLX · Homeobox (A1, A2, A3, A4, A5, A7, A9, A10, A11, A13, B1, B2, B3, B4, B5, B6, B7, B8, B9, B13, C4, C5, C6, C8, C9, C10, C11, C12, C13, D1, D3, D4, D8, D9, D10, D11, D12, D13) · HOPX · IRX (1, 2, 3, 4, 5, 6, MKX) · LMX (1A, 1B) · MEIS (1, 2) · MEOX2 · MNX1 · MSX (1, 2) · NANOG · NKX (2-1, 2-2, 2-3, 2-5, 3-1, 3-2, 6-1, 6-2) · NOBOX · PBX (1, 2, 3) · PHF (1, 3, 6, 8, 10, 16, 17, 20, 21A) · PHOX (2A, 2B) · PITX (1, 2, 3) · POU domain (PIT-1, BRN-3: A, B, C, Octamer transcription factor: 1, 2, 3/4, 6, 7, 11) · OTX (1, 2) · PDX1 · SATB2 · SHOX2 · VAX1 · ZEB (1, 2)

(3.2) Paired box

PAX (1, 2, 3, 4, 5, 6, 7, 8, 9)

(3.3) Fork head / winged helix

E2F (1, 2, 3, 4, 5) · FOX proteins (A1, A2, A3, C1, C2, D3, D4, E1, E3, F1, G1, H1, J1, J2, K1, K2, L2, M1, N1, N3, O1, O3, O4, P1, P2, P3, P4)

(3.4) Heat Shock Factors

HSF (1, 2, 4)

(3.5) Tryptophan clusters

ELF (2, 4, 5) · EGF · ELK (1, 3, 4) · ERF · ETS (1, 2, ERG, SPIB) · ETV (1, 4, 5, 6) · FLI1 · Interferon regulatory factors (1, 2, 3, 4, 5, 6, 7, 8) · MYB · MYBL2

(3.6) TEA domain

transcriptional enhancer factor (1, 2, 3, 4)

(4) β-Scaffold factors with minor groove contacts

(4.1) Rel homology region

NF-κB (NFKB1, NFKB2, REL, RELA, RELB) · NFAT (C1, C2, C3, C4, 5)

(4.2) STAT

STAT (1, 2, 3, 4, 5, 6)

(4.3) p53

p53 · TBX (1, 2, 3, 5, 19, 21, 22, Brachyury, TBR1, TBR2) · TP63

(4.4) MADS box

Mef2 (A, B, C, D) · SRF

(4.6) TATA binding proteins

TBP · TBPL1

(4.7) High-mobility group

BBX · HMGB (1, 2, 3, 4) · HMGN (1, 2, 3, 4) · HNF (1A, 1B) · LEF1 · SOX (1, 2, 3, 4, 5, 6, 8, 9, 10, 11, 12, 13, 14, 15, 18, 21) · SRY · SSRP1 · TCF (3, 4) · TOX (1, 2, 3, 4)

(4.10) Cold-shock domain

CSDA, YBX1

(4.11) Runt

CBF (CBFA2T2, CBFA2T3, RUNX1, RUNX2, RUNX3, RUNX1T1)

(0) Other transcription factors

(0.2) HMGI(Y)

HMGA (1, 2) · HBP1

(0.3) Pocket domain

Rb · RBL1 · RBL2

(0.5) AP-2/EREBP-related factors

Apetala 2 · EREBP · B3

(0.6) Miscellaneous

ARID (1A, 1B, 2, 3A, 3B, 4A) · CAP · IFI (16, 35) · MLL (2, 3, T1) · MNDA · NFY (A, B, C) · Rho/Sigma

see also transcription factor/coregulator deficiencies
B bsyn: dna (repl, cycl, reco, repr) · tscr (fact, tcrg, nucl, rnat, rept, ptts) · tltn (risu, pttl, nexn) · dnab, rnab/runp · stru (domn, 1°, 2°, 3°, 4°)

Categories:
Human proteins
Chromosome 15 gene stubs
Intracellular receptors
Transcription factors

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Academic Dictionaries and Encyclopedias

Photoreceptor cell-specific nuclear receptor

Contents

Function

Clinical significance

References

Further reading

External links

Look at other dictionaries:

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Academic Dictionaries and Encyclopedias

Wikipedia

Photoreceptor cell-specific nuclear receptor

Contents

Function

Clinical significance

References

Further reading

External links

Look at other dictionaries:

Share the article and excerpts

Direct link