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; OMA:PAXBP1 - orthologs
Gene location (Human)
Chr.	Chromosome 21 (human)
End	32,771,792 bp
Gene location (Mouse)
Chr.	Chromosome 16 (mouse)
End	90,841,431 bp
RNA expression pattern
	Top expressed in
	sural nerve; ; sperm; ; right uterine tube; ; left ovary; ; Achilles tendon; ; tibia; ; right ovary; ; ventricular zone; ; corpus callosum; ; right hemisphere of cerebellum;
	Top expressed in
	cerebellar cortex; ; lobe of cerebellum; ; Ileal epithelium; ; cerebellar vermis; ; genital tubercle; ; neural layer of retina; ; thymus; ; dermis; ; ventricular zone; ; tail of embryo;
	More reference expression data
	; ;
	More reference expression data
Gene ontology
Molecular function	RNA polymerase II cis-regulatory region sequence-specific DNA binding; transcription factor binding; DNA-binding transcription factor activity; 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
	94104
	67367
	ENSG00000159086; ENSG00000263141
	ENSMUSG00000022974
	Q9Y5B6
	P58501
	NM_013329; NM_016631; NM_058191; NM_145328
	NM_026110
	NP_037461; NP_057715
	NP_080386
	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

^ ^a ^b ^c ENSG00000263141 GRCh38: Ensembl release 89: ENSG00000159086, ENSG00000263141 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000022974 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ 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.
^ 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.
^ ^a ^b "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.

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. Bibcode:2002PNAS...9916899M. 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.

This article on a gene on human chromosome 21 is a stub. You can help Wikipedia by expanding it.

[refGRCh38Ensembl-1] ENSG00000263141 GRCh38: Ensembl release 89: ENSG00000159086, ENSG00000263141 – Ensembl, May 2017

[refGRCm38Ensembl-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.

[pmid11042152-5] 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.

[pmid11707072-6] 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.

[entrez-7] "Entrez Gene: C21orf66 chromosome 21 open reading frame 66".

[5]

[6]

[7]

[1]

[2]

[3]

[4]

PAXBP1

References

External links

Further reading