NOBOX

NOBOX oogenesis homeobox

Identifiers

NOBOX ; OG-2; OG2; OG2X; POF5; TCAG_12042

External IDs

OMIM: 610934 MGI: 108011 HomoloGene: 51066 GeneCards: NOBOX Gene

Gene ontology
Molecular function	• RNA polymerase II core promoter proximal region sequence-specific DNA binding • transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding
Cellular component	• nucleus • cytoplasm
Biological process	• ovarian follicle development • transcription from RNA polymerase II promoter • positive regulation of transcription from RNA polymerase II promoter • oogenesis
Sources: Amigo / QuickGO

Orthologs

Species

Human

Mouse

RefSeq (mRNA)

RefSeq (protein)

Location (UCSC)

Chr 7:
144.4 – 144.41 Mb

Chr 6:
43.3 – 43.31 Mb

PubMed search

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]

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".
↑ 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.
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.
↑ 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.

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 & Gynecology 21 (4): 313–7. 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.

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 BHLH 2 3 9 ARNTL 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 MXD3 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 6 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
- S1
- S2
- YY1
HIC
- 1
- 2
HIVEP
- 1
- 2
- 3
IKZF
- 1
- 2
- 3
ILF
- 2
- 3
KLF
- 1
- 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
- 11
- 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

(2.6) WRKY

WRKY

(3) Helix-turn-helix domains

(3.1) Homeodomain	ARX CDX 1 2 CRX CUTL1 DBX 1 2 DLX 3 4 5 EMX 1 2 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 SIX 1 2 3 4 5 VAX1 ZEB 1 2

(3.2) Paired box	PAX 1 2 3 4 5 6 7 8 9 PRRX 1 2 RAX

(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 I1 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 TBR1 TBR2 TFT MYRF 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

(4.9) Grainyhead	TFCP2

(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

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NOBOX

Function

Clinical significance

References

Further reading