- NOBOX
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NOBOX oogenesis homeobox Identifiers Symbols NOBOX; OG-2; OG2; OG2X; POF5; TCAG_12042 External IDs OMIM: 610934 MGI: 108011 HomoloGene: 51066 GeneCards: NOBOX Gene Gene Ontology Molecular function • sequence-specific DNA binding transcription factor activity
• sequence-specific DNA bindingCellular component • nucleus Biological process • ovarian follicle development
• multicellular organismal development
• cell differentiation
• positive regulation of transcription from RNA polymerase II promoter
• oogenesisSources: Amigo / QuickGO Orthologs Species Human Mouse Entrez 135935 18291 Ensembl ENSG00000106410 ENSMUSG00000029736 UniProt O60393 Q8VIH1 RefSeq (mRNA) NM_001080413 NM_130869.3 RefSeq (protein) NP_001073882 NP_570939.1 Location (UCSC) Chr 7:
144.09 – 144.11 MbChr 6:
43.25 – 43.26 MbPubMed search [1] [2] Homeobox protein NOBOX, also known as newborn ovary homeobox protein, is a protein that in humans is encoded by the NOBOX gene.[1][2][3]
Contents
Function
NOBOX is a homeobox gene that is preferentially expressed in oocytes. In mice, it is essential for folliculogenesis and regulation of oocyte-specific genes.[3]
Clinical significance
A mutation in the NOBOX gene is associated with premature ovarian failure.[4]
References
- ^ "Entrez Gene: NOBOX oogenesis homeobox". http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=135935.
- ^ Suzumori N, Yan C, Matzuk MM, Rajkovic A (February 2002). "Nobox is a homeobox-encoding gene preferentially expressed in primordial and growing oocytes". Mech. Dev. 111 (1-2): 137–41. doi:10.1016/S0925-4773(01)00620-7. PMID 11804785.
- ^ a b Huntriss J, Hinkins M, Picton HM (May 2006). "cDNA cloning and expression of the human NOBOX gene in oocytes and ovarian follicles". Mol. Hum. Reprod. 12 (5): 283–9. doi:10.1093/molehr/gal035. PMID 16597639.
- ^ Qin Y, Choi Y, Zhao H, Simpson JL, Chen ZJ, Rajkovic A (September 2007). "NOBOX homeobox mutation causes premature ovarian failure". Am. J. Hum. Genet. 81 (3): 576–81. doi:10.1086/519496. PMC 1950834. PMID 17701902. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=1950834.
Further reading
- Rovescalli AC, Asoh S, Nirenberg M (1996). "Cloning and characterization of four murine homeobox genes.". Proc. Natl. Acad. Sci. U.S.A. 93 (20): 10691–6. doi:10.1073/pnas.93.20.10691. PMC 38216. PMID 8855241. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=38216.
- Qin Y, Choi Y, Zhao H, et al. (2007). "NOBOX homeobox mutation causes premature ovarian failure.". Am. J. Hum. Genet. 81 (3): 576–81. doi:10.1086/519496. PMC 1950834. PMID 17701902. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=1950834.
- Brauner R, Bashamboo A, Rouget S, et al. (2010). "Clinical, biological and genetic analysis of prepubertal isolated ovarian cyst in 11 girls.". PLoS ONE 5 (6): e11282. doi:10.1371/journal.pone.0011282. PMID 20593028.
- Hillier LW, Fulton RS, Fulton LA, et al. (2003). "The DNA sequence of human chromosome 7.". Nature 424 (6945): 157–64. doi:10.1038/nature01782. PMID 12853948.
- Zhao XX, Suzumori N, Yamaguchi M, Suzumori K (2005). "Mutational analysis of the homeobox region of the human NOBOX gene in Japanese women who exhibit premature ovarian failure.". Fertil. Steril. 83 (6): 1843–4. doi:10.1016/j.fertnstert.2004.12.031. PMID 15950662.
- Oldenburg RA, van Dooren MF, de Graaf B, et al. (2008). "A genome-wide linkage scan in a Dutch family identifies a premature ovarian failure susceptibility locus.". Hum. Reprod. 23 (12): 2835–41. doi:10.1093/humrep/den278. PMID 18689850.
- van Dooren MF, Bertoli-Avellab AM, Oldenburg RA (2009). "Premature ovarian failure and gene polymorphisms.". Curr. Opin. Obstet. Gynecol. 21 (4): 313–7. PMID 19610175.
- Rajkovic A, Pangas SA, Ballow D, et al. (2004). "NOBOX deficiency disrupts early folliculogenesis and oocyte-specific gene expression.". Science 305 (5687): 1157–9. doi:10.1126/science.1099755. PMID 15326356.
- Rossi E, Verri AP, Patricelli MG, et al.. "A 12Mb deletion at 7q33-q35 associated with autism spectrum disorders and primary amenorrhea.". Eur J Med Genet 51 (6): 631–8. doi:10.1016/j.ejmg.2008.06.010. PMID 18675947.
- Venter JC, Adams MD, Myers EW, et al. (2001). "The sequence of the human genome.". Science 291 (5507): 1304–51. doi:10.1126/science.1058040. PMID 11181995.
- Qin Y, Shi Y, Zhao Y, et al. (2009). "Mutation analysis of NOBOX homeodomain in Chinese women with premature ovarian failure.". Fertil. Steril. 91 (4 Suppl): 1507–9. doi:10.1016/j.fertnstert.2008.08.020. PMID 18930203.
References
- ^ "Entrez Gene: NOBOX oogenesis homeobox". http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=135935.
- ^ Suzumori N, Yan C, Matzuk MM, Rajkovic A (February 2002). "Nobox is a homeobox-encoding gene preferentially expressed in primordial and growing oocytes". Mech. Dev. 111 (1-2): 137–41. doi:10.1016/S0925-4773(01)00620-7. PMID 11804785.
- ^ a b Huntriss J, Hinkins M, Picton HM (May 2006). "cDNA cloning and expression of the human NOBOX gene in oocytes and ovarian follicles". Mol. Hum. Reprod. 12 (5): 283–9. doi:10.1093/molehr/gal035. PMID 16597639.
- ^ Qin Y, Choi Y, Zhao H, Simpson JL, Chen ZJ, Rajkovic A (September 2007). "NOBOX homeobox mutation causes premature ovarian failure". Am. J. Hum. Genet. 81 (3): 576–81. doi:10.1086/519496. PMC 1950834. PMID 17701902. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=1950834.
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, 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(1.4) NF-1(1.5) RF-X(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 (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(2.3) Cys2His2General 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(2.5) Alternating composition(3) Helix-turn-helix domains (3.1) HomeodomainARX · 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(3.3) Fork head / winged helix(3.4) Heat Shock Factors(3.5) Tryptophan clusters(3.6) TEA domain(4) β-Scaffold factors with minor groove contacts (4.1) Rel homology region(4.2) STAT(4.3) p53(4.4) MADS box(4.6) TATA binding proteins(4.7) High-mobility group(4.10) Cold-shock domainCSDA, YBX1(4.11) Runt(0) Other transcription factors (0.2) HMGI(Y)(0.3) Pocket domain(0.6) Miscellaneoussee 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
- Transcription factors
- Chromosome 7 gene stubs
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