PAX8

Paired box 8

PDB rendering based on 1k78.
Available structures
PDB Ortholog search: PDBe, RCSB
Identifiers
Symbol PAX8
External IDs OMIM: 167415 MGI: 97492 HomoloGene: 2589 GeneCards: PAX8 Gene
RNA expression pattern
More reference expression data
Orthologs
Species Human Mouse
Entrez 7849 18510
Ensembl ENSG00000125618 ENSMUSG00000026976
UniProt Q06710 Q00288
RefSeq (mRNA) NM_003466 NM_011040
RefSeq (protein) NP_003457 NP_035170
Location (UCSC) Chr 2:
113.22 – 113.28 Mb		 Chr 2:
24.42 – 24.48 Mb
PubMed search

Paired box gene 8, also known as PAX8, is a protein which in humans is encoded by the PAX8 gene.[1]

Function

This gene is a member of the paired box (PAX) family of transcription factors. Members of this gene family typically encode proteins which contain a paired box domain, an octapeptide, and a paired-type homeodomain. This nuclear protein is involved in thyroid follicular cell development and expression of thyroid-specific genes. Also functions in very early stages of kidney organogenesis, the mullerian system, and the thymus.[2]

Clinical significance

Mutations in this gene have been associated with thyroid dysgenesis, thyroid follicular carcinomas and atypical follicular thyroid adenomas. Alternate transcriptional splice variants, encoding different isoforms, have been characterized.[1] A fusion protein, PAX8-PPAR-γ, is implicated in some follicular thyroid carcinomas and follicular-variant papillary thyroid carcinoma.[3]

Interactions

PAX8 has been shown to interact with NK2 homeobox 1.[4]

See also

References

  1. 1 2 "Entrez Gene: PAX8 paired box gene 8".
  2. ↑ Laury AR, Perets R, Piao H, Krane JF, Barletta JA, French C, Chirieac LR, Lis R, Loda M, Hornick JL, Drapkin R, Hirsch MS (Jun 2011). "A comprehensive analysis of PAX8 expression in human epithelial tumors". The American Journal of Surgical Pathology 35 (6): 816–26. doi:10.1097/PAS.0b013e318216c112. PMID 21552115.
  3. ↑ Raman P, Koenig RJ (Oct 2014). "Pax-8-PPAR-γ fusion protein in thyroid carcinoma". Nature Reviews. Endocrinology 10 (10): 616–23. doi:10.1038/nrendo.2014.115. PMID 25069464.
  4. ↑ Di Palma T, Nitsch R, Mascia A, Nitsch L, Di Lauro R, Zannini M (Jan 2003). "The paired domain-containing factor Pax8 and the homeodomain-containing factor TTF-1 directly interact and synergistically activate transcription". The Journal of Biological Chemistry 278 (5): 3395–402. doi:10.1074/jbc.M205977200. PMID 12441357.

Further reading

  • Poleev A, Fickenscher H, Mundlos S, Winterpacht A, Zabel B, Fidler A, Gruss P, Plachov D (Nov 1992). "PAX8, a human paired box gene: isolation and expression in developing thyroid, kidney and Wilms' tumors". Development 116 (3): 611–23. PMID 1337742. 
  • Poleev A, Wendler F, Fickenscher H, Zannini MS, Yaginuma K, Abbott C, Plachov D (Mar 1995). "Distinct functional properties of three human paired-box-protein, PAX8, isoforms generated by alternative splicing in thyroid, kidney and Wilms' tumors". European Journal of Biochemistry / FEBS 228 (3): 899–911. doi:10.1111/j.1432-1033.1995.tb20338.x. PMID 7737192. 
  • Stapleton P, Weith A, Urbánek P, Kozmik Z, Busslinger M (Apr 1993). "Chromosomal localization of seven PAX genes and cloning of a novel family member, PAX-9". Nature Genetics 3 (4): 292–8. doi:10.1038/ng0493-292. PMID 7981748. 
  • Maruyama K, Sugano S (Jan 1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides". Gene 138 (1-2): 171–4. doi:10.1016/0378-1119(94)90802-8. PMID 8125298. 
  • Kozmik Z, Kurzbauer R, Dörfler P, Busslinger M (Oct 1993). "Alternative splicing of Pax-8 gene transcripts is developmentally regulated and generates isoforms with different transactivation properties". Molecular and Cellular Biology 13 (10): 6024–35. doi:10.1128/mcb.13.10.6024. PMC 364662. PMID 8413205. 
  • Pilz AJ, Povey S, Gruss P, Abbott CM (1993). "Mapping of the human homologs of the murine paired-box-containing genes". Mammalian Genome 4 (2): 78–82. doi:10.1007/BF00290430. PMID 8431641. 
  • Bonaldo MF, Lennon G, Soares MB (Sep 1996). "Normalization and subtraction: two approaches to facilitate gene discovery". Genome Research 6 (9): 791–806. doi:10.1101/gr.6.9.791. PMID 8889548. 
  • Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, Suyama A, Sugano S (Oct 1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library". Gene 200 (1-2): 149–56. doi:10.1016/S0378-1119(97)00411-3. PMID 9373149. 
  • Fraizer GC, Shimamura R, Zhang X, Saunders GF (Dec 1997). "PAX 8 regulates human WT1 transcription through a novel DNA binding site". The Journal of Biological Chemistry 272 (49): 30678–87. doi:10.1074/jbc.272.49.30678. PMID 9388203. 
  • Macchia PE, Lapi P, Krude H, Pirro MT, Missero C, Chiovato L, Souabni A, Baserga M, Tassi V, Pinchera A, Fenzi G, Grüters A, Busslinger M, Di Lauro R (May 1998). "PAX8 mutations associated with congenital hypothyroidism caused by thyroid dysgenesis". Nature Genetics 19 (1): 83–6. doi:10.1038/ng0598-83. PMID 9590296. 
  • Mansouri A, Chowdhury K, Gruss P (May 1998). "Follicular cells of the thyroid gland require Pax8 gene function". Nature Genetics 19 (1): 87–90. doi:10.1038/ng0598-87. PMID 9590297. 
  • Tell G, Pellizzari L, Esposito G, Pucillo C, Macchia PE, Di Lauro R, Damante G (Jul 1999). "Structural defects of a Pax8 mutant that give rise to congenital hypothyroidism". The Biochemical Journal 341 (1): 89–93. doi:10.1042/0264-6021:3410089. PMC 1220333. PMID 10377248. 
  • De Leo R, Miccadei S, Zammarchi E, Civitareale D (Nov 2000). "Role for p300 in Pax 8 induction of thyroperoxidase gene expression". The Journal of Biological Chemistry 275 (44): 34100–5. doi:10.1074/jbc.M003043200. PMID 10924503. 
  • Roberts EC, Deed RW, Inoue T, Norton JD, Sharrocks AD (Jan 2001). "Id helix-loop-helix proteins antagonize pax transcription factor activity by inhibiting DNA binding". Molecular and Cellular Biology 21 (2): 524–33. doi:10.1128/MCB.21.2.524-533.2001. PMC 86614. PMID 11134340. 
  • Vilain C, Rydlewski C, Duprez L, Heinrichs C, Abramowicz M, Malvaux P, Renneboog B, Parma J, Costagliola S, Vassart G (Jan 2001). "Autosomal dominant transmission of congenital thyroid hypoplasia due to loss-of-function mutation of PAX8". The Journal of Clinical Endocrinology and Metabolism 86 (1): 234–8. doi:10.1210/jc.86.1.234. PMID 11232006. 
  • Congdon T, Nguyen LQ, Nogueira CR, Habiby RL, Medeiros-Neto G, Kopp P (Aug 2001). "A novel mutation (Q40P) in PAX8 associated with congenital hypothyroidism and thyroid hypoplasia: evidence for phenotypic variability in mother and child". The Journal of Clinical Endocrinology and Metabolism 86 (8): 3962–7. doi:10.1210/jc.86.8.3962. PMID 11502839. 
  • Miccadei S, De Leo R, Zammarchi E, Natali PG, Civitareale D (Apr 2002). "The synergistic activity of thyroid transcription factor 1 and Pax 8 relies on the promoter/enhancer interplay". Molecular Endocrinology 16 (4): 837–46. doi:10.1210/me.16.4.837. PMID 11923479. 
  • Marques AR, Espadinha C, Catarino AL, Moniz S, Pereira T, Sobrinho LG, Leite V (Aug 2002). "Expression of PAX8-PPAR gamma 1 rearrangements in both follicular thyroid carcinomas and adenomas". The Journal of Clinical Endocrinology and Metabolism 87 (8): 3947–52. doi:10.1210/jc.87.8.3947. PMID 12161538. 
  • Di Palma T, Nitsch R, Mascia A, Nitsch L, Di Lauro R, Zannini M (Jan 2003). "The paired domain-containing factor Pax8 and the homeodomain-containing factor TTF-1 directly interact and synergistically activate transcription". The Journal of Biological Chemistry 278 (5): 3395–402. doi:10.1074/jbc.M205977200. PMID 12441357. 

External links

This article incorporates text from the United States National Library of Medicine, which is in the public domain.


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