TLX

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Nuclear receptor subfamily 2, group E, member 1
Identifiers
Symbol(s) NR2E1; TLX; TLL; XTLL
External IDs OMIM: 603849 MGI: 1100526 HomoloGene: 37750
RNA expression pattern

More reference expression data
Orthologs
Human Mouse
Entrez 7101 21907
Ensembl ENSG00000112333 ENSMUSG00000019803
Uniprot Q9Y466 Q3UXE8
Refseq NM_003269 (mRNA)
NP_003260 (protein)		 NM_152229 (mRNA)
NP_689415 (protein)
Location Chr 6: 108.59 - 108.62 Mb Chr 10: 42.25 - 42.27 Mb
Pubmed search [1] [2]

The protein encoded by TLX (Human homologue of the Drosophila tailless gene) is a member of the nuclear receptor family of intracellular transcription factors and is encoded by the NR2E1 gene (nuclear receptor subfamily 2, group E, member 1).[1]

TLX regulates the expression of another nuclear receptor, RAR.[2] TLX also is essential for normal brain-eye coordination and appears to play a role in control of aggressive behavior.[3]

[edit] References

  1. ^ Jackson A, Panayiotidis P, Foroni L (1998). "The human homologue of the Drosophila tailless gene (TLX): characterization and mapping to a region of common deletion in human lymphoid leukemia on chromosome 6q21". Genomics 50 (1): 34–43. doi:10.1006/geno.1998.5270. PMID 9628820. 
  2. ^ Kobayashi M, Yu RT, Yasuda K, Umesono K (2000). "Cell-type-specific regulation of the retinoic acid receptor mediated by the orphan nuclear receptor TLX". Mol. Cell. Biol. 20 (23): 8731–9. doi:10.1128/MCB.20.23.8731-8739.2000. PMID 11073974. 
  3. ^ Abrahams BS, Kwok MC, Trinh E, Budaghzadeh S, Hossain SM, Simpson EM (2005). "Pathological aggression in "fierce" mice corrected by human nuclear receptor 2E1". J. Neurosci. 25 (27): 6263–70. doi:10.1523/JNEUROSCI.4757-04.2005. PMID 16000615. 

[edit] Further reading

  • Yu RT, McKeown M, Evans RM, Umesono K (1994). "Relationship between Drosophila gap gene tailless and a vertebrate nuclear receptor Tlx.". Nature 370 (6488): 375–9. doi:10.1038/370375a0. PMID 8047143. 
  • Jackson A, Panayiotidis P, Foroni L (1999). "The human homologue of the Drosophila tailless gene (TLX): characterization and mapping to a region of common deletion in human lymphoid leukemia on chromosome 6q21.". Genomics 50 (1): 34–43. doi:10.1006/geno.1998.5270. PMID 9628820. 
  • Kobayashi M, Yu RT, Yasuda K, Umesono K (2000). "Cell-type-specific regulation of the retinoic acid receptor mediated by the orphan nuclear receptor TLX.". Mol. Cell. Biol. 20 (23): 8731–9. PMID 11073974. 
  • Abrahams BS, Mak GM, Berry ML, et al. (2003). "Novel vertebrate genes and putative regulatory elements identified at kidney disease and NR2E1/fierce loci.". Genomics 80 (1): 45–53. PMID 12079282. 
  • 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. PMID 12477932. 
  • Mungall AJ, Palmer SA, Sims SK, et al. (2003). "The DNA sequence and analysis of human chromosome 6.". Nature 425 (6960): 805–11. doi:10.1038/nature02055. PMID 14574404. 
  • Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMID 15489334. 
  • Abrahams BS, Kwok MC, Trinh E, et al. (2006). "Pathological aggression in "fierce" mice corrected by human nuclear receptor 2E1.". J. Neurosci. 25 (27): 6263–70. doi:10.1523/JNEUROSCI.4757-04.2005. PMID 16000615. 
  • Kumar RA, Leach S, Bonaguro R, et al. (2007). "Mutation and evolutionary analyses identify NR2E1-candidate-regulatory mutations in humans with severe cortical malformations.". Genes Brain Behav. 6 (6): 503–16. doi:10.1111/j.1601-183X.2006.00277.x. PMID 17054721. 
  • Kumar RA, Everman DB, Morgan CT, et al. (2007). "Absence of mutations in NR2E1 and SNX3 in five patients with MMEP (microcephaly, microphthalmia, ectrodactyly, and prognathism) and related phenotypes.". BMC Med. Genet. 8: 48. doi:10.1186/1471-2350-8-48. PMID 17655765. 
  • Sun G, Yu RT, Evans RM, Shi Y (2007). "Orphan nuclear receptor TLX recruits histone deacetylases to repress transcription and regulate neural stem cell proliferation.". Proc. Natl. Acad. Sci. U.S.A. 104 (39): 15282–7. doi:10.1073/pnas.0704089104. PMID 17873065. 

[edit] External links

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v • d • e
Transcription 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, 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) • NRL • NRF1 • XBP1
(1.2) Basic helix-loop-helix (bHLH)
ATOH1 • AhR • AHRR • ARNT • ASCL1 • BHLHB2 • BMAL (ARNTL, ARNTL2) • CLOCK • EPAS1 • HAND (1, 2) • HES (5, 6) • HEY (1, 2, L) • HES1 • HIF (1A, 3A) • ID (1, 2, 3, 4) • LYL1 • MXD4 • MYCL1 • MYCN • Myogenic regulatory factors (MyoD, Myogenin, MYF5, MYF6) • Neurogenins • NeuroD (1, 2) • NPAS (1, 2, 3) • OLIG (1, 2) • Scleraxis • TAL1 • Twist • USF1
(1.3) bHLH-ZIP
MAX • MITF • MNT • MLX • MXI1 • Myc • SREBP (1, 2)
(1.6) Basic helix-span-helix (bHSH)
(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 (Estrogen (α, β), Estrogen related (α, β, γ), Androgen, Glucocorticoid, Mineralocorticoid, Progesterone)) • 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)
(2.3) Cys2His2
ATBF1 • BCL(6, 11A, 11B) • CTCF • E4F1 • EGR (2, 3) • ERV3 • General transcription factors (TFIIA, TFIIB, TFIID, TFIIE, TFIIF: 1, 2, TFIIH: 1, 2, 4, 2I, 3A, 3C1, 3C2) • GFI1 • GLI-Krüppel family (1, 2, 3, YY1) • HIC (1, 2) • HIVEP (1, 2, 3) • IKZF (1, 2, 3) • ILF (2, 3) • KLF (2, 4, 5, 6, 9, 10, 11, 12, 13) • MTF1 • MYT1 • OSR1 • Sp1 • 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, 318, 330, 346, 350, 365, 366, 384, 451, 452, 471, 593, 638, 649, 655) • Zbtb7 (7A) • ZBT (16, 17, 33)
(2.4) Cys6
(2.5) Alternating composition
AIRE • DIDO1 • GRLF1 • ING (1, 2, 4) • JARID (1A, 1B, 1C, 1D, 2) • JMJD1B
(3) Helix-turn-helix
domains
ARX • CDX (1, 2) • CRX • CUTL1 • DLX (3, 4, 5) • EMX2 • EN (1, 2) • FHL (1, 2, 3) • HESX1 • HHEX • HLX • Homeobox (A1, 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, C13, D1, D3, D4, D8, D9, D10, D11, D12, D13) • HOPX • MEIS (1, 2) • MEOX2 • MNX1 • MSX (1, 2) • NANOG • NKX (2-1, 2-5, 3-1) • PHF (3, 6, 10, 17) • POU domain (PIT-1, BRN-3: 1, 2, Octamer transcription factor: 1, 2, 3/4, 6, 7) • OTX (1, 2) • PDX1
(3.2) Paired box
PAX (1, 2, 3, 4, 5, 6, 7, 8, 9)
E2F (1, 2, 3, 4, 5) • FOX proteins (C1, C2, E1, G1, H1, K2, L2, M1, N3, O1A, , O3A, O4, P1, P2, P3)
HSF (1, 2, 4)
(3.5) Tryptophan clusters
ELF (4, 5) • EGF • ELK (1, 3, 4) • ERF • ERG • ETS (1, 2) • 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
(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
(4.4) MADS box
Mef2 (A, B, C, D) • SRF
HNF (1A, 1B) • LEF1 • SOX (2, 3, 4, 5, 6, 8, 9, 10, 11, 13, 15, 18) • SRY • SSRP1
(4.10) Cold-shock domain
(4.11) Runt
(0) Other
transcription factors
(0.2) HMGI(Y)
HMGA (1, 2) • HBP1
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 • NFI (A, B, C, X) • NFY (A, B, C) • Rho/Sigma • R-SMAD