PAX4

From Wikipedia, the free encyclopedia


Paired box gene 4
Identifiers
Symbol(s) PAX4; MGC129960
External IDs OMIM: 167413 MGI: 97488 HomoloGene: 4515
RNA expression pattern

More reference expression data
Orthologs
Human Mouse
Entrez 5078 18506
Ensembl ENSG00000106331 ENSMUSG00000029706
Uniprot n/a Q9EQ02
Refseq NM_006193 (mRNA)
NP_006184 (protein)		 NM_011038 (mRNA)
NP_035168 (protein)
Location Chr 7: 127.04 - 127.04 Mb Chr 6: 28.39 - 28.4 Mb
Pubmed search [1] [2]

Paired box gene 4, also known as PAX4, is a human gene.[1]

This gene is a member of the paired box (PAX) family of transcription factors. Members of this gene family typically contain a paired box domain, an octapeptide, and a paired-type homeodomain. These genes play critical roles during fetal development and cancer growth. The paired box gene 4 is involved in pancreatic islet development and mouse studies have demonstrated a role for this gene in differentiation of insulin-producing beta cells.[1]

Contents

[edit] See also

[edit] References

  1. ^ a b Entrez Gene: PAX4 paired box gene 4.

[edit] Further reading

  • Sosa-Pineda B (2005). "The gene Pax4 is an essential regulator of pancreatic beta-cell development.". Mol. Cells 18 (3): 289–94. PMID 15650323. 
  • Stapleton P, Weith A, Urbánek P, et al. (1995). "Chromosomal localization of seven PAX genes and cloning of a novel family member, PAX-9.". Nat. Genet. 3 (4): 292–8. doi:10.1038/ng0493-292. PMID 7981748. 
  • Tamura T, Izumikawa Y, Kishino T, et al. (1994). "Assignment of the human PAX4 gene to chromosome band 7q32 by fluorescence in situ hybridization.". Cytogenet. Cell Genet. 66 (2): 132–4. PMID 8287686. 
  • Pilz AJ, Povey S, Gruss P, Abbott CM (1993). "Mapping of the human homologs of the murine paired-box-containing genes.". Mamm. Genome 4 (2): 78–82. PMID 8431641. 
  • Matsushita T, Yamaoka T, Otsuka S, et al. (1998). "Molecular cloning of mouse paired-box-containing gene (Pax)-4 from an islet beta cell line and deduced sequence of human Pax-4.". Biochem. Biophys. Res. Commun. 242 (1): 176–80. doi:10.1006/bbrc.1997.7935. PMID 9439631. 
  • Inoue H, Nomiyama J, Nakai K, et al. (1998). "Isolation of full-length cDNA of mouse PAX4 gene and identification of its human homologue.". Biochem. Biophys. Res. Commun. 243 (2): 628–33. doi:10.1006/bbrc.1998.8144. PMID 9480859. 
  • Bonthron DT, Dunlop N, Barr DG, et al. (1998). "Organisation of the human PAX4 gene and its exclusion as a candidate for the Wolcott-Rallison syndrome.". J. Med. Genet. 35 (4): 288–92. PMID 9598721. 
  • Tao T, Wasson J, Bernal-Mizrachi E, et al. (1998). "Isolation and characterization of the human PAX4 gene.". Diabetes 47 (10): 1650–3. PMID 9753306. 
  • Smith SB, Watada H, Scheel DW, et al. (2001). "Autoregulation and maturity onset diabetes of the young transcription factors control the human PAX4 promoter.". J. Biol. Chem. 275 (47): 36910–9. doi:10.1074/jbc.M005202200. PMID 10967107. 
  • Miyamoto T, Kakizawa T, Ichikawa K, et al. (2001). "Expression of dominant negative form of PAX4 in human insulinoma.". Biochem. Biophys. Res. Commun. 282 (1): 34–40. doi:10.1006/bbrc.2001.4552. PMID 11263967. 
  • Shimajiri Y, Sanke T, Furuta H, et al. (2001). "A missense mutation of Pax4 gene (R121W) is associated with type 2 diabetes in Japanese.". Diabetes 50 (12): 2864–9. PMID 11723072. 
  • Kanatsuka A, Tokuyama Y, Nozaki O, et al. (2002). "Beta-cell dysfunction in late-onset diabetic subjects carrying homozygous mutation in transcription factors NeuroD1 and Pax4.". Metab. Clin. Exp. 51 (9): 1161–5. PMID 12200761. 
  • 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. 
  • Shimajiri Y, Shimabukuro M, Tomoyose T, et al. (2003). "PAX4 mutation (R121W) as a prodiabetic variant in Okinawans.". Biochem. Biophys. Res. Commun. 302 (2): 342–4. PMID 12604352. 
  • Scherer SW, Cheung J, MacDonald JR, et al. (2003). "Human chromosome 7: DNA sequence and biology.". Science 300 (5620): 767–72. doi:10.1126/science.1083423. PMID 12690205. 
  • Kemp DM, Lin JC, Habener JF (2003). "Regulation of Pax4 paired homeodomain gene by neuron-restrictive silencer factor.". J. Biol. Chem. 278 (37): 35057–62. doi:10.1074/jbc.M305891200. PMID 12829700. 
  • Holm P, Rydlander B, Luthman H, et al. (2004). "Interaction and association analysis of a type 1 diabetes susceptibility locus on chromosome 5q11-q13 and the 7q32 chromosomal region in Scandinavian families.". Diabetes 53 (6): 1584–91. PMID 15161765. 
  • 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. 
  • Brun T, Franklin I, St-Onge L, et al. (2005). "The diabetes-linked transcription factor PAX4 promotes {beta}-cell proliferation and survival in rat and human islets.". J. Cell Biol. 167 (6): 1123-35. doi:10.1083/jcb.200405148. PMID 15596543. 

[edit] External links

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

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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