BPTF

BPTF
Available structures PDB Human UniProt search: PDBe RCSB List of PDB id codes 2F6J, 2F6N, 2FSA, 2FUI, 2FUU, 2RI7, 3QZS, 3QZT, 3QZV, 3UV2
Identifiers
Aliases	BPTF , FAC1, FALZ, NURF301, bromodomain PHD finger transcription factor, NEDDFL
External IDs	OMIM: 601819 MGI: 2444008 HomoloGene: 114397 GeneCards: BPTF
Gene location (Human) Chr. Chromosome 17 (human) [1] Band 17q24.2 Start 67,825,503 bp [1] End 67,984,378 bp [1]
Gene location (Mouse) Chr. Chromosome 11 (mouse) [2] Band 11|11 E1 Start 106,923,907 bp [2] End 107,022,953 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in sural nerve ganglionic eminence corpus callosum cerebellar hemisphere thymus cancellous bone Achilles tendon renal medulla pituitary gland lower lobe of lung Top expressed in saccule otic placode internal carotid artery substantia nigra external carotid artery vas deferens medullary collecting duct lymph node secondary oocyte ciliary body More reference expression data BioGPS More reference expression data
Gene ontology Molecular function sequence-specific DNA binding ATP-dependent activity, acting on DNA transcription factor binding metal ion binding protein binding methylated histone binding Cellular component cytoplasm cell body nucleoplasm dendrite NURF complex perinuclear region of cytoplasm neuron projection extracellular exosome nucleus Set1C/COMPASS complex Biological process chromatin remodeling cellular response to nerve growth factor stimulus endoderm development regulation of transcription, DNA-templated embryonic placenta development negative regulation of transcription by RNA polymerase II transcription, DNA-templated positive regulation of transcription, DNA-templated brain development response to wounding anterior/posterior pattern specification chromatin organization regulation of transcription by RNA polymerase II positive regulation of transcription by RNA polymerase II Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 2186 207165 Ensembl ENSG00000171634 ENSMUSG00000040481 UniProt Q12830 n/a RefSeq (mRNA) NM_004459 NM_182641 NM_001080832 NM_176850 NM_001359590 RefSeq (protein) NP_004450 NP_872579 n/a Location (UCSC) Chr 17: 67.83 – 67.98 Mb Chr 11: 106.92 – 107.02 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Nucleosome-remodeling factor subunit BPTF is a protein that in humans is encoded by the BPTF gene. ^{[5] [6] [7] [8]}

This gene was identified by the reactivity of its encoded protein to a monoclonal antibody prepared against brain homogenates from patients with Alzheimer's disease. Analysis of the original protein (fetal Alz-50 reactive clone 1, or FAC1), identified as an 810 aa protein containing a DNA-binding domain and a zinc finger motif, suggested it might play a role in the regulation of transcription. High levels of FAC1 were detected in fetal brain and in patients with neurodegenerative diseases. The protein encoded by this gene is actually much larger than originally thought, and it also contains a C-terminal bromodomain characteristic of proteins that regulate transcription during proliferation. The encoded protein is highly similar to the largest subunit of the Drosophila NURF (nucleosome remodeling factor) complex. In Drosophila, the NURF complex, which catalyzes nucleosome sliding on DNA and interacts with sequence-specific transcription factors, is necessary for the chromatin remodeling required for transcription. Two alternative transcripts encoding different isoforms have been described completely. ^[8]

Interactions

BPTF has been shown to interact with MAZ. ^[9]

References

1. GRCh38: Ensembl release 89: ENSG00000171634 - Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000040481 - 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. Bowser R (March 1997). "Assignment of the human FAC1 gene to chromosome 17q24 by fluorescence in situ hybridization". Genomics. 38 (3): 455–7. doi:10.1006/geno.1996.0657. PMID   8975731.
6. Jones MH, Hamana N, Shimane M (April 2000). "Identification and characterization of BPTF, a novel bromodomain transcription factor". Genomics. 63 (1): 35–9. doi:10.1006/geno.1999.6070. PMID   10662542.
7. Wysocka J, Swigut T, Xiao H, Milne TA, Kwon SY, Landry J, Kauer M, Tackett AJ, Chait BT, Badenhorst P, Wu C, Allis CD (July 2006). "A PHD finger of NURF couples histone H3 lysine 4 trimethylation with chromatin remodelling". Nature. 442 (7098): 86–90. Bibcode:2006Natur.442...86W. doi:10.1038/nature04815. PMID   16728976. S2CID   4389087.
8. "Entrez Gene: BPTF bromodomain PHD finger transcription factor".
9. Jordan-Sciutto, K L; Dragich J M; Caltagarone J; Hall D J; Bowser R (March 2000). "Fetal Alz-50 clone 1 (FAC1) protein interacts with the Myc-associated zinc finger protein (ZF87/MAZ) and alters its transcriptional activity". Biochemistry. UNITED STATES. 39 (12): 3206–15. doi:10.1021/bi992211q. ISSN   0006-2960. PMC   3667205 . PMID   10727212.

External links

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

Further reading

• Bowser R, Giambrone A, Davies P (1995). "FAC1, a novel gene identified with the monoclonal antibody Alz50, is developmentally regulated in human brain". Dev. Neurosci. 17 (1): 20–37. doi:10.1159/000111270. PMID   7621746.
• Bonaldo MF, Lennon G, Soares MB (1997). "Normalization and subtraction: two approaches to facilitate gene discovery". Genome Res. 6 (9): 791–806. doi: 10.1101/gr.6.9.791 . PMID   8889548.
• Zhu P, Bowser R (1997). "Identification and analysis of the complete cDNA sequence for the human FAC1 gene". Biochim. Biophys. Acta. 1309 (1–2): 5–8. doi:10.1016/s0167-4781(96)00127-3. PMID   8950167.
• Mu X, Springer JE, Bowser R (1997). "FAC1 expression and localization in motor neurons of developing, adult, and amyotrophic lateral sclerosis spinal cord". Exp. Neurol. 146 (1): 17–24. doi:10.1006/exnr.1997.6508. PMID   9225734. S2CID   25924273.
• Jordan-Sciutto KL, Dragich JM, Bowser R (1999). "DNA binding activity of the fetal Alz-50 clone 1 (FAC1) protein is enhanced by phosphorylation". Biochem. Biophys. Res. Commun. 260 (3): 785–9. doi:10.1006/bbrc.1999.0986. PMID   10403843.
• Jordan-Sciutto KL, Dragich JM, Rhodes JL, Bowser R (2000). "Fetal Alz-50 clone 1, a novel zinc finger protein, binds a specific DNA sequence and acts as a transcriptional regulator". J. Biol. Chem. 274 (49): 35262–8. doi: 10.1074/jbc.274.49.35262 . PMC   3670955 . PMID   10575013.
• Jordan-Sciutto KL, Dragich JM, Caltagarone J, et al. (2000). "Fetal Alz-50 clone 1 (FAC1) protein interacts with the Myc-associated zinc finger protein (ZF87/MAZ) and alters its transcriptional activity". Biochemistry. 39 (12): 3206–15. doi:10.1021/bi992211q. PMC   3667205 . PMID   10727212.
• Jordan-Sciutto K, Rhodes J, Bowser R (2002). "Altered subcellular distribution of transcriptional regulators in response to Abeta peptide and during Alzheimer's disease". Mech. Ageing Dev. 123 (1): 11–20. doi:10.1016/S0047-6374(01)00334-7. PMID   11640947. S2CID   34907508.
• 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.
• Rhodes J, Lutka FA, Jordan-Sciutto KL, Bowser R (2003). "Altered expression and distribution of FAC1 during NGF-induced neurite outgrowth of PC12 cells". NeuroReport. 14 (3): 449–52. doi:10.1097/00001756-200303030-00030. PMID   12634501. S2CID   28755165.
• Barak O, Lazzaro MA, Lane WS, et al. (2004). "Isolation of human NURF: a regulator of Engrailed gene expression". EMBO J. 22 (22): 6089–100. doi:10.1093/emboj/cdg582. PMC   275440 . PMID   14609955.
• 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. S2CID   21903526.
• 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.
• Strachan GD, Morgan KL, Otis LL, et al. (2004). "Fetal Alz-50 clone 1 interacts with the human orthologue of the Kelch-like Ech-associated protein". Biochemistry. 43 (38): 12113–22. doi:10.1021/bi0494166. PMC   3670950 . PMID   15379550.
• Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC   528928 . PMID   15489334.
• Strachan GD, Ostrow LA, Jordan-Sciutto KL (2005). "Expression of the fetal Alz-50 clone 1 protein induces apoptotic cell death". Biochem. Biophys. Res. Commun. 336 (2): 490–5. doi:10.1016/j.bbrc.2005.08.127. PMID   16137655.
• Li H, Ilin S, Wang W, et al. (2006). "Molecular basis for site-specific read-out of histone H3K4me3 by the BPTF PHD finger of NURF". Nature. 442 (7098): 91–5. Bibcode:2006Natur.442...91L. doi:10.1038/nature04802. PMC   4690523 . PMID   16728978.