PAXBP1 explained

GC-rich sequence DNA-binding factor homolog is a protein that in humans is encoded by the PAXBP1 gene.^{[1] [2] [3]}

Similarity to a transcriptional repressor suggests that this gene's protein product is involved in the regulation of transcription. Alternative splicing of this gene results in three transcript variants encoding different isoforms. Additional transcript variants have been described, but their full-length sequences have not been determined.

Further reading

• Slavov D, Hattori M, Sakaki Y . Criteria for gene identification and features of genome organization: analysis of 6.5 Mb of DNA sequence from human chromosome 21 . Gene . 247 . 1–2 . 215–32 . 2000 . 10773462 . 10.1016/S0378-1119(00)00089-5 . etal.
• Strausberg RL, Feingold EA, Grouse LH . 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 . 2003 . 12477932 . 10.1073/pnas.242603899 . 139241 . 2002PNAS...9916899M . etal. free .
• Ota T, Suzuki Y, Nishikawa T . Complete sequencing and characterization of 21,243 full-length human cDNAs . Nat. Genet. . 36 . 1 . 40–5 . 2004 . 14702039 . 10.1038/ng1285 . etal. free .
• Beausoleil SA, Jedrychowski M, Schwartz D . Large-scale characterization of HeLa cell nuclear phosphoproteins . Proc. Natl. Acad. Sci. U.S.A. . 101 . 33 . 12130–5 . 2004 . 15302935 . 10.1073/pnas.0404720101 . 514446 . 2004PNAS..10112130B . etal. free .
• Kimura K, Wakamatsu A, Suzuki Y . Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes . Genome Res. . 16 . 1 . 55–65 . 2006 . 16344560 . 10.1101/gr.4039406 . 1356129 . etal.
• Hu YH, Warnatz HJ, Vanhecke D . Cell array-based intracellular localization screening reveals novel functional features of human chromosome 21 proteins . BMC Genomics . 7. 155 . 2006 . 16780588 . 10.1186/1471-2164-7-155 . 1526728 . etal . free .
• Olsen JV, Blagoev B, Gnad F . Global, in vivo, and site-specific phosphorylation dynamics in signaling networks . Cell . 127 . 3 . 635–48 . 2006 . 17081983 . 10.1016/j.cell.2006.09.026 . 7827573 . etal. free .

Notes and References

1. Zhang QH, Ye M, Wu XY, Ren SX, Zhao M, Zhao CJ, Fu G, Shen Y, Fan HY, Lu G, Zhong M, Xu XR, Han ZG, Zhang JW, Tao J, Huang QH, Zhou J, Hu GX, Gu J, Chen SJ, Chen Z . Cloning and functional analysis of cDNAs with open reading frames for 300 previously undefined genes expressed in CD34+ hematopoietic stem/progenitor cells . Genome Res . 10 . 10 . 1546–60 . Nov 2000 . 11042152 . 310934 . 10.1101/gr.140200 .
2. Reymond A, Friedli M, Henrichsen CN, Chapot F, Deutsch S, Ucla C, Rossier C, Lyle R, Guipponi M, Antonarakis SE . From PREDs and open reading frames to cDNA isolation: revisiting the human chromosome 21 transcription map . Genomics . 78 . 1–2 . 46–54 . Nov 2001 . 11707072 . 10.1006/geno.2001.6640 .
3. Web site: Entrez Gene: C21orf66 chromosome 21 open reading frame 66.