PAXBP1

PAXBP1
Identifiers
Aliases	PAXBP1 , BM020, C21orf66, FSAP105, GCFC, GCFC1, PAX3 and PAX7 binding protein 1
External IDs	OMIM: 617621 MGI: 1914617 HomoloGene: 9604 GeneCards: PAXBP1
Gene location (Human) Chr. Chromosome 21 (human) [1] Band 21q22.11 Start 32,733,899 bp [1] End 32,771,792 bp [1]
Gene location (Mouse) Chr. Chromosome 16 (mouse) [2] Band 16|16 C3.3 Start 90,810,925 bp [2] End 90,841,431 bp [2]
RNA expression pattern Bgee Top expressed in sural nerve kidney lung corpus callosum bone marrow stomach tibia heart More reference expression data BioGPS More reference expression data
Gene ontology Molecular function GO:0000980 RNA polymerase II cis-regulatory region sequence-specific DNA binding transcription factor binding GO:0001131, GO:0001151, GO:0001130, GO:0001204 DNA-binding transcription factor activity GO:0001078, GO:0001214, GO:0001206 DNA-binding transcription repressor activity, RNA polymerase II-specific DNA binding Cellular component nucleus cytosol Biological process positive regulation of transcription by RNA polymerase II regulation of skeletal muscle satellite cell proliferation regulation of transcription, DNA-templated muscle organ development positive regulation of myoblast proliferation positive regulation of histone methylation transcription, DNA-templated negative regulation of transcription by RNA polymerase II Sources:Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	94104	67367
Ensembl	ENSG00000159086 ENSG00000263141	ENSMUSG00000022974
UniProt	Q9Y5B6	P58501
RefSeq (mRNA)	NM_013329 NM_016631 NM_058191 NM_145328	NM_026110
RefSeq (protein)	NP_037461 NP_057715	NP_080386
Location (UCSC)	Chr 21: 32.73 – 32.77 Mb	Chr 16: 90.81 – 90.84 Mb
PubMed search	[3]	[4]
Wikidata
View/Edit Human View/Edit Mouse

GC-rich sequence DNA-binding factor homolog is a protein that in humans is encoded by the PAXBP1 gene. ^{[5] [6] [7]}

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. ^[7]

References

1. ENSG00000263141 GRCh38: Ensembl release 89: ENSG00000159086, ENSG00000263141 - Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000022974 - Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. 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.
6. 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.
7. "Entrez Gene: C21orf66 chromosome 21 open reading frame 66".

External links

• Human PAXBP1 genome location and PAXBP1 gene details page in the UCSC Genome Browser .

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. Bibcode:2004PNAS..10112130B. 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. S2CID   7827573.