C21orf66

PAX3 and PAX7 binding protein 1
Identifiers
Symbols	PAXBP1 ; BM020; C21orf66; FSAP105; GCFC; GCFC1
External IDs	MGI: 1914617 HomoloGene: 9604 GeneCards: PAXBP1 Gene
Gene ontology Molecular function • RNA polymerase II core promoter proximal region sequence-specific DNA binding • transcriptional repressor activity, RNA polymerase II core promoter proximal region sequence-specific binding • transcription factor binding Cellular component • nucleus • cytosol Biological process • negative regulation of transcription from RNA polymerase II promoter • transcription, DNA-templated • muscle organ development • regulation of satellite cell proliferation • positive regulation of histone methylation • positive regulation of transcription from RNA polymerase II promoter • positive regulation of myoblast proliferation Sources: Amigo / QuickGO
RNA expression pattern
More reference expression data
Orthologs
Species	Human	Mouse
Entrez	94104	67367
Ensembl	ENSG00000159086	ENSMUSG00000022974
UniProt	Q9Y5B6	P58501
RefSeq (mRNA)	NM_013329	NM_026110
RefSeq (protein)	NP_037461	NP_080386
Location (UCSC)	Chr 21: 32.73 – 32.77 Mb	Chr 16: 91.01 – 91.04 Mb
PubMed search

GC-rich sequence DNA-binding factor homolog is a protein that in humans is encoded by the C21orf66 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.^[3]

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 (Nov 2000). "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. doi:10.1101/gr.140200. PMC 310934. PMID 11042152.
2. Reymond A, Friedli M, Henrichsen CN, Chapot F, Deutsch S, Ucla C, Rossier C, Lyle R, Guipponi M, Antonarakis SE (Nov 2001). "From PREDs and open reading frames to cDNA isolation: revisiting the human chromosome 21 transcription map". Genomics 78 (1–2): 46–54. doi:10.1006/geno.2001.6640. PMID 11707072.
3. "Entrez Gene: C21orf66 chromosome 21 open reading frame 66".

Further reading

• Slavov D, Hattori M, Sakaki Y; et al. (2000). "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. doi:10.1016/S0378-1119(00)00089-5. PMID 10773462.
• 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. PMC 139241. PMID 12477932.
• Ota T, Suzuki Y, Nishikawa T; et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
• Beausoleil SA, Jedrychowski M, Schwartz D; et al. (2004). "Large-scale characterization of HeLa cell nuclear phosphoproteins". Proc. Natl. Acad. Sci. U.S.A. 101 (33): 12130–5. doi:10.1073/pnas.0404720101. PMC 514446. PMID 15302935.
• Kimura K, Wakamatsu A, Suzuki Y; et al. (2006). "Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes". Genome Res. 16 (1): 55–65. doi:10.1101/gr.4039406. PMC 1356129. PMID 16344560.
• Hu YH, Warnatz HJ, Vanhecke D; et al. (2006). "Cell array-based intracellular localization screening reveals novel functional features of human chromosome 21 proteins". BMC Genomics 7: 155. doi:10.1186/1471-2164-7-155. PMC 1526728. PMID 16780588.
• Olsen JV, Blagoev B, Gnad F; et al. (2006). "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks". Cell 127 (3): 635–48. doi:10.1016/j.cell.2006.09.026. PMID 17081983.