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; OMA:BPTF - orthologs
Gene location (Human) Chr. Chromosome 17 (human) Band 17q24.2 Start 67,825,503 bp End 67,984,378 bp
Gene location (Mouse) Chr. Chromosome 11 (mouse) Band 11|11 E1 Start 106,923,907 bp End 107,022,953 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in sural nerve ventricular zone ganglionic eminence corpus callosum cerebellar hemisphere right hemisphere of cerebellum epithelium of colon testicle tonsil left ovary Top expressed in saccule otic placode otic vesicle Rostral migratory stream internal carotid artery substantia nigra external carotid artery vas deferens Gonadal ridge medullary collecting duct 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
Wikidata
View/Edit Human View/Edit Mouse

Nucleosome-remodeling factor subunit BPTF is a protein that in humans is encoded by the BPTF gene.

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.

Interactions

BPTF has been shown to interact with MAZ.

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.