PAX7

From Wikipedia, the free encyclopedia

Paired box gene 7

Identifiers

PAX7; HUP1; PAX7B

External IDs

OMIM: 167410 MGI: 97491 HomoloGene: 55665

Gene ontology
Molecular Function:	• transcription factor activity • sequence-specific DNA binding
Cellular Component:	• nucleus
Biological Process:	• regulation of transcription, DNA-dependent • anti-apoptosis • multicellular organismal development • segment polarity determination • anatomical structure morphogenesis

RNA expression pattern

More reference expression data

Orthologs

Human

Mouse

Refseq

NM_002584 (mRNA)
NP_002575 (protein)

NM_011039 (mRNA)
NP_035169 (protein)

Location

Chr 1: 18.83 - 18.94 Mb

Chr 4: 139.01 - 139.11 Mb

Pubmed search

[1]

[2]

Paired box gene 7, also known as PAX7, 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 specific function of the paired box gene 7 is unknown but speculated to involve tumor suppression since fusion of this gene with a forkhead domain family member has been associated with alveolar rhabdomyosarcoma. Alternative splicing in this gene has produced two known products but the biological significance of the variants is unknown.^[1]

1 See also
2 References
3 Further reading
4 External links

[edit] See also

Pax genes

[edit] References

^ ^a ^b Entrez Gene: PAX7 paired box gene 7.

[edit] Further reading

Blake J, Ziman MR (2003). "Aberrant PAX3 and PAX7 expression. A link to the metastatic potential of embryonal rhabdomyosarcoma and cutaneous malignant melanoma?". Histol. Histopathol. 18 (2): 529–39. PMID 12647804.
Burri M, Tromvoukis Y, Bopp D, et al. (1989). "Conservation of the paired domain in metazoans and its structure in three isolated human genes.". EMBO J. 8 (4): 1183–90. PMID 2501086.
Schäfer BW, Czerny T, Bernasconi M, et al. (1995). "Molecular cloning and characterization of a human PAX-7 cDNA expressed in normal and neoplastic myocytes.". Nucleic Acids Res. 22 (22): 4574–82. PMID 7527137.
Shapiro DN, Sublett JE, Li B, et al. (1993). "The gene for PAX7, a member of the paired-box-containing genes, is localized on human chromosome arm 1p36.". Genomics 17 (3): 767–9. doi:10.1006/geno.1993.1404. PMID 7902328.
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.
Cross SH, Charlton JA, Nan X, Bird AP (1994). "Purification of CpG islands using a methylated DNA binding column.". Nat. Genet. 6 (3): 236–44. doi:10.1038/ng0394-236. PMID 8012384.
Schäfer BW, Mattei MG (1993). "The human paired domain gene PAX7 (Hup1) maps to chromosome 1p35-1p36.2.". Genomics 17 (1): 249–51. doi:10.1006/geno.1993.1315. PMID 8104868.
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.
Barr FG, Nauta LE, Davis RJ, et al. (1996). "In vivo amplification of the PAX3-FKHR and PAX7-FKHR fusion genes in alveolar rhabdomyosarcoma.". Hum. Mol. Genet. 5 (1): 15–21. PMID 8789435.
Vorobyov E, Mertsalov I, Dockhorn-Dworniczak B, et al. (1997). "The genomic organization and the full coding region of the human PAX7 gene.". Genomics 45 (1): 168–74. doi:10.1006/geno.1997.4915. PMID 9339373.
Magnaghi P, Roberts C, Lorain S, et al. (1998). "HIRA, a mammalian homologue of Saccharomyces cerevisiae transcriptional co-repressors, interacts with Pax3.". Nat. Genet. 20 (1): 74–7. doi:10.1038/1739. PMID 9731536.
Margue CM, Bernasconi M, Barr FG, Schäfer BW (2000). "Transcriptional modulation of the anti-apoptotic protein BCL-XL by the paired box transcription factors PAX3 and PAX3/FKHR.". Oncogene 19 (25): 2921–9. doi:10.1038/sj.onc.1203607. PMID 10871843.
Kondrashov AV, Pospelov VA (2002). "[In vitro modelling of the interactions between the promoter and enhancer complexes]". Tsitologiia 43 (8): 764–71. PMID 11601392.
Sorensen PH, Lynch JC, Qualman SJ, et al. (2002). "PAX3-FKHR and PAX7-FKHR gene fusions are prognostic indicators in alveolar rhabdomyosarcoma: a report from the children's oncology group.". J. Clin. Oncol. 20 (11): 2672–9. PMID 12039929.
Syagailo YV, Okladnova O, Reimer E, et al. (2003). "Structural and functional characterization of the human PAX7 5'-flanking regulatory region.". Gene 294 (1-2): 259–68. PMID 12234688.
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.
Tiffin N, Williams RD, Shipley J, Pritchard-Jones K (2003). "PAX7 expression in embryonal rhabdomyosarcoma suggests an origin in muscle satellite cells.". Br. J. Cancer 89 (2): 327–32. doi:10.1038/sj.bjc.6601040. PMID 12865925.
Tomescu O, Xia SJ, Strezlecki D, et al. (2004). "Inducible short-term and stable long-term cell culture systems reveal that the PAX3-FKHR fusion oncoprotein regulates CXCR4, PAX3, and PAX7 expression.". Lab. Invest. 84 (8): 1060–70. doi:10.1038/labinvest.3700125. PMID 15184910.
Vorobyov E, Horst J (2005). "Expression of two protein isoforms of PAX7 is controlled by competing cleavage-polyadenylation and splicing.". Gene 342 (1): 107–12. doi:10.1016/j.gene.2004.07.030. PMID 15527970.

[edit] External links

MeSH PAX7+protein,+human

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

This article on a gene on chromosome 1 is a stub. You can help Wikipedia by expanding it.

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)	AP-2

(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	HIVEP1

(2.5) Alternating composition	AIRE • DIDO1 • GRLF1 • ING (1, 2, 4) • JARID (1A, 1B, 1C, 1D, 2) • JMJD1B

(3) Helix-turn-helix
domains

(3.1) Homeo domain	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)

(3.3) Fork head / winged helix	E2F (1, 2, 3, 4, 5) • FOX proteins (C1, C2, E1, G1, H1, K2, L2, M1, N3, O1A, , O3A, O4, P1, P2, P3)

(3.4) Heat Shock Factors	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	p53

(4.4) MADS box	Mef2 (A, B, C, D) • SRF

(4.7) High mobility group	HNF (1A, 1B) • LEF1 • SOX (2, 3, 4, 5, 6, 8, 9, 10, 11, 13, 15, 18) • SRY • SSRP1

(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 • NFI (A, B, C, X) • NFY (A, B, C) • Rho/Sigma • R-SMAD