NOBOX

NOBOX
Identifiers
AliasesNOBOX, OG-2, OG2, OG2X, POF5, TCAG_12042, NOBOX oogenesis homeobox
External IDsMGI: 108011 HomoloGene: 51066 GeneCards: NOBOX
Gene location (Human)
Chr.Chromosome 7 (human)[1]
Band7q35Start144,397,240 bp[1]
End144,410,227 bp[1]
Orthologs
SpeciesHumanMouse
Entrez

135935

18291

Ensembl

ENSG00000106410
ENSG00000285328

ENSMUSG00000029736

UniProt

O60393

Q8VIH1

RefSeq (mRNA)

NM_001080413

NM_130869

RefSeq (protein)

NP_001073882

NP_570939

Location (UCSC)Chr 7: 144.4 – 144.41 MbChr 6: 43.3 – 43.31 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Homeobox protein NOBOX, also known as newborn ovary homeobox protein, is a protein that in humans is encoded by the NOBOX gene.[5][6][7]

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.[7]

Clinical significance

A mutation in the NOBOX gene is associated with premature ovarian failure.[8]

References

  1. 1 2 3 ENSG00000285328 GRCh38: Ensembl release 89: ENSG00000106410, ENSG00000285328 - Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000029736 - Ensembl, May 2017
  3. ↑ "Human PubMed Reference:".
  4. ↑ "Mouse PubMed Reference:".
  5. ↑ "Entrez Gene: NOBOX oogenesis homeobox".
  6. ↑ Suzumori N, Yan C, Matzuk MM, Rajkovic A (Feb 2002). "Nobox is a homeobox-encoding gene preferentially expressed in primordial and growing oocytes". Mechanisms of Development. 111 (1–2): 137–41. doi:10.1016/S0925-4773(01)00620-7. PMID 11804785.
  7. 1 2 Huntriss J, Hinkins M, Picton HM (May 2006). "cDNA cloning and expression of the human NOBOX gene in oocytes and ovarian follicles". Molecular Human Reproduction. 12 (5): 283–9. doi:10.1093/molehr/gal035. PMID 16597639.
  8. ↑ Qin Y, Choi Y, Zhao H, Simpson JL, Chen ZJ, Rajkovic A (Sep 2007). "NOBOX homeobox mutation causes premature ovarian failure". American Journal of Human Genetics. 81 (3): 576–81. doi:10.1086/519496. PMC 1950834. PMID 17701902.

Further reading

  • Rovescalli AC, Asoh S, Nirenberg M (Oct 1996). "Cloning and characterization of four murine homeobox genes". Proceedings of the National Academy of Sciences of the United States of America. 93 (20): 10691–6. doi:10.1073/pnas.93.20.10691. PMC 38216. PMID 8855241.
  • Qin Y, Choi Y, Zhao H, Simpson JL, Chen ZJ, Rajkovic A (Sep 2007). "NOBOX homeobox mutation causes premature ovarian failure". American Journal of Human Genetics. 81 (3): 576–81. doi:10.1086/519496. PMC 1950834. PMID 17701902.
  • Brauner R, Bashamboo A, Rouget S, Goulet M, Philibert P, Sarda-Thibault H, Trivin C, Misrahi M, Sultan C, McElreavey K (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. PMC 2892512. PMID 20593028.
  • Zhao XX, Suzumori N, Yamaguchi M, Suzumori K (Jun 2005). "Mutational analysis of the homeobox region of the human NOBOX gene in Japanese women who exhibit premature ovarian failure". Fertility and Sterility. 83 (6): 1843–4. doi:10.1016/j.fertnstert.2004.12.031. PMID 15950662.
  • Oldenburg RA, van Dooren MF, de Graaf B, Simons E, Govaerts L, Swagemakers S, Verkerk JM, Oostra BA, Bertoli-Avella AM (Dec 2008). "A genome-wide linkage scan in a Dutch family identifies a premature ovarian failure susceptibility locus". Human Reproduction. 23 (12): 2835–41. doi:10.1093/humrep/den278. PMID 18689850.
  • van Dooren MF, Bertoli-Avellab AM, Oldenburg RA (Aug 2009). "Premature ovarian failure and gene polymorphisms". Current Opinion in Obstetrics and Gynecology. 21 (4): 313–7. doi:10.1097/gco.0b013e32832e0813. PMID 19610175.
  • Rajkovic A, Pangas SA, Ballow D, Suzumori N, Matzuk MM (Aug 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, Destefani V, Ricca I, Vetro A, Ciccone R, Giorda R, Toniolo D, Maraschio P, Zuffardi O (2008). "A 12Mb deletion at 7q33-q35 associated with autism spectrum disorders and primary amenorrhea". European Journal of Medical Genetics. 51 (6): 631–8. doi:10.1016/j.ejmg.2008.06.010. PMID 18675947.
  • Qin Y, Shi Y, Zhao Y, Carson SA, Simpson JL, Chen ZJ (Apr 2009). "Mutation analysis of NOBOX homeodomain in Chinese women with premature ovarian failure". Fertility and Sterility. 91 (4 Suppl): 1507–9. doi:10.1016/j.fertnstert.2008.08.020. PMID 18930203.


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