PAX5

From Wikipedia, the free encyclopedia


Paired box gene 5 (B-cell lineage specific activator)
PDB rendering based on 1k78.
Available structures: 1k78, 1mdm
Identifiers
Symbol(s) PAX5; BSAP
External IDs OMIM: 167414 MGI: 97489 HomoloGene: 56419
RNA expression pattern

More reference expression data
Orthologs
Human Mouse
Entrez 5079 18507
Ensembl ENSG00000196092 ENSMUSG00000014030
Uniprot Q02548 Q02650
Refseq NM_016734 (mRNA)
NP_057953 (protein)		 NM_008782 (mRNA)
NP_032808 (protein)
Location Chr 9: 36.82 - 37.02 Mb Chr 4: 44.55 - 44.73 Mb
Pubmed search [1] [2]

Paired box gene 5 (B-cell lineage specific activator), also known as PAX5, is a human gene.[1]

The PAX5 gene is a member of the paired box (PAX) family of transcription factors. The central feature of this gene family is a novel, highly conserved DNA-binding motif, known as the paired box. The PAX proteins are important regulators in early development, and alterations in the expression of their genes are thought to contribute to neoplastic transformation. The PAX5 gene encodes the B-cell lineage specific activator protein (BSAP) that is expressed at early, but not late stages of B-cell differentiation. Its expression has also been detected in developing CNS and testis, therefore, PAX5 gene product may not only play an important role in B-cell differentiation, but also in neural development and spermatogenesis. The PAX5 gene is located in chromosome 9p13 region, which is involved in t(9;14)(p13;q32) translocations recurring in small lymphocytic lymphomas of the plasmacytoid subtype, and in derived large-cell lymphomas. This translocation brings the potent E-mu enhancer of the IgH gene into close proximity of the PAX5 promoters, suggesting that the deregulation of PAX5 gene transcription contributes to the pathogenesis of these lymphomas. A transcript variant arising as a consequence of alternative promoter usage, and containing a different coding exon 1(B), has been described, however, its full-length nature is not known.[1]

Contents

[edit] See also

[edit] References

  1. ^ a b Entrez Gene: PAX5 paired box gene 5 (B-cell lineage specific activator).

[edit] Further reading

  • Hagman J, Wheat W, Fitzsimmons D, et al. (1999). "Pax-5/BSAP: regulator of specific gene expression and differentiation in B lymphocytes.". Curr. Top. Microbiol. Immunol. 245 (1): 169–94. PMID 10533313. 
  • Calame KL, Lin KI, Tunyaplin C (2003). "Regulatory mechanisms that determine the development and function of plasma cells.". Annu. Rev. Immunol. 21: 205–30. doi:10.1146/annurev.immunol.21.120601.141138. PMID 12524387. 
  • Carotta S, Holmes ML, Pridans C, Nutt SL (2007). "Pax5 maintains cellular identity by repressing gene expression throughout B cell differentiation.". Cell Cycle 5 (21): 2452–6. PMID 17102626. 
  • Adams B, Dörfler P, Aguzzi A, et al. (1992). "Pax-5 encodes the transcription factor BSAP and is expressed in B lymphocytes, the developing CNS, and adult testis.". Genes Dev. 6 (9): 1589–607. PMID 1516825. 
  • 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. 
  • 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. 
  • Busslinger M, Klix N, Pfeffer P, et al. (1996). "Deregulation of PAX-5 by translocation of the Emu enhancer of the IgH locus adjacent to two alternative PAX-5 promoters in a diffuse large-cell lymphoma.". Proc. Natl. Acad. Sci. U.S.A. 93 (12): 6129–34. PMID 8650231. 
  • Iida S, Rao PH, Nallasivam P, et al. (1996). "The t(9;14)(p13;q32) chromosomal translocation associated with lymphoplasmacytoid lymphoma involves the PAX-5 gene.". Blood 88 (11): 4110–7. PMID 8943844. 
  • Kaneko H, Ariyasu T, Inoue R, et al. (1998). "Expression of Pax5 gene in human haematopoietic cells and tissues: comparison with immunodeficient donors.". Clin. Exp. Immunol. 111 (2): 339–44. PMID 9486401. 
  • Verkoczy LK, Berinstein NL (1998). "Isolation of genes negatively or positively co-expressed with human recombination activating gene 1 (RAG1) by differential display PCR (DD RT-PCR).". Nucleic Acids Res. 26 (19): 4497–507. PMID 9742255. 
  • Wheat W, Fitzsimmons D, Lennox H, et al. (1999). "The highly conserved beta-hairpin of the paired DNA-binding domain is required for assembly of Pax-Ets ternary complexes.". Mol. Cell. Biol. 19 (3): 2231–41. PMID 10022910. 
  • Eberhard D, Busslinger M (1999). "The partial homeodomain of the transcription factor Pax-5 (BSAP) is an interaction motif for the retinoblastoma and TATA-binding proteins.". Cancer Res. 59 (7 Suppl): 1716s-1724s; discussion 1724s-1725s. PMID 10197586. 
  • Libermann TA, Pan Z, Akbarali Y, et al. (1999). "AML1 (CBFalpha2) cooperates with B cell-specific activating protein (BSAP/PAX5) in activation of the B cell-specific BLK gene promoter.". J. Biol. Chem. 274 (35): 24671–6. PMID 10455134. 
  • Nutt SL, Heavey B, Rolink AG, Busslinger M (1999). "Commitment to the B-lymphoid lineage depends on the transcription factor Pax5.". Nature 401 (6753): 556–62. doi:10.1038/44076. PMID 10524622. 
  • Rolink AG, Nutt SL, Melchers F, Busslinger M (1999). "Long-term in vivo reconstitution of T-cell development by Pax5-deficient B-cell progenitors.". Nature 401 (6753): 603–6. doi:10.1038/44164. PMID 10524629. 
  • Kovac CR, Emelyanov A, Singh M, et al. (2000). "BSAP (Pax5)-importin alpha 1 (Rch1) interaction identifies a nuclear localization sequence.". J. Biol. Chem. 275 (22): 16752–7. doi:10.1074/jbc.M001551200. PMID 10748034. 
  • Eberhard D, Jiménez G, Heavey B, Busslinger M (2000). "Transcriptional repression by Pax5 (BSAP) through interaction with corepressors of the Groucho family.". EMBO J. 19 (10): 2292–303. doi:10.1093/emboj/19.10.2292. PMID 10811620. 
  • Roberts EC, Deed RW, Inoue T, et al. (2001). "Id helix-loop-helix proteins antagonize pax transcription factor activity by inhibiting DNA binding.". Mol. Cell. Biol. 21 (2): 524–33. doi:10.1128/MCB.21.2.524-533.2001. PMID 11134340. 
  • Pasqualucci L, Neumeister P, Goossens T, et al. (2001). "Hypermutation of multiple proto-oncogenes in B-cell diffuse large-cell lymphomas.". Nature 412 (6844): 341–6. doi:10.1038/35085588. PMID 11460166. 

[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