BCLAF1

Bcl-2-associated transcription factor 1 is a Bcl-2 family protein in humans that is encoded by the BCLAF1 gene.

BCLAF1
Identifiers
Aliases	BCLAF1, BTF, bK211L9.1, BCL2 associated transcription factor 1
External IDs	OMIM: 612588; MGI: 1917580; HomoloGene: 8832; GeneCards: BCLAF1; OMA:BCLAF1 - orthologs
Gene location (Human) Chr. Chromosome 6 (human) Band 6q23.3 Start 136,256,627 bp End 136,289,851 bp
Gene location (Mouse) Chr. Chromosome 10 (mouse) Band 10|10 A3 Start 20,312,469 bp End 20,344,613 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in Achilles tendon tibia embryo caput epididymis ventricular zone skin of thigh parietal pleura corpus epididymis epithelium of nasopharynx skin of hip Top expressed in genital tubercle tail of embryo ventricular zone abdominal wall pineal gland aortic valve Gonadal ridge Rostral migratory stream neural layer of retina maxillary prominence More reference expression data BioGPS n/a
Gene ontology Molecular function DNA binding protein binding RNA binding Cellular component cytoplasm nuclear speck nucleus nucleoplasm Biological process positive regulation of apoptotic process regulation of DNA-templated transcription in response to stress negative regulation of transcription, DNA-templated regulation of transcription, DNA-templated positive regulation of intrinsic apoptotic signaling pathway positive regulation of DNA-templated transcription, initiation positive regulation of response to DNA damage stimulus transcription, DNA-templated apoptotic process cellular response to leukemia inhibitory factor Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 9774 72567 Ensembl ENSG00000029363 ENSMUSG00000037608 UniProt Q9NYF8 Q8K019 RefSeq (mRNA) NM_001077440 NM_001077441 NM_001301038 NM_014739 NM_001363659 NM_001025392 NM_001025393 NM_001025394 NM_153787 RefSeq (protein) NP_001070908 NP_001070909 NP_001287967 NP_055554 NP_001350588 NP_001020563 NP_001020564 NP_722482 Location (UCSC) Chr 6: 136.26 – 136.29 Mb Chr 10: 20.31 – 20.34 Mb PubMed search
Wikidata
View/Edit Human View/Edit Mouse

This gene encodes a transcriptional repressor that interacts with several members of the BCL-2 family of proteins. Overexpression of this protein induces apoptosis, which can be suppressed by co-expression of BCL2 proteins. The protein localizes to dot-like structures throughout the nucleus and redistributes to a zone near the nuclear envelope in cells undergoing apoptosis. Multiple transcript variants encoding different protein isoforms have been found for this gene.

Further reading

• 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.
• Mungall AJ, Palmer SA, Sims SK, et al. (2003). "The DNA sequence and analysis of human chromosome 6". Nature. 425 (6960): 805–11. Bibcode:2003Natur.425..805M. doi:10.1038/nature02055. PMID 14574404.
• Haraguchi T, Holaska JM, Yamane M, et al. (2004). "Emerin binding to Btf, a death-promoting transcriptional repressor, is disrupted by a missense mutation that causes Emery–Dreifuss muscular dystrophy". Eur. J. Biochem. 271 (5): 1035–45. doi:10.1111/j.1432-1033.2004.04007.x. PMID 15009215.
• 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.
• Jin J, Smith FD, Stark C, et al. (2004). "Proteomic, functional, and domain-based analysis of in vivo 14-3-3 binding proteins involved in cytoskeletal regulation and cellular organization". Curr. Biol. 14 (16): 1436–50. Bibcode:2004CBio...14.1436J. doi:10.1016/j.cub.2004.07.051. PMID 15324660. S2CID 2371325.
• 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.
• Zheng H, Hu P, Quinn DF, Wang YK (2005). "Phosphotyrosine proteomic study of interferon alpha signaling pathway using a combination of immunoprecipitation and immobilized metal affinity chromatography". Mol. Cell. Proteomics. 4 (6): 721–30. doi:10.1074/mcp.M400077-MCP200. PMID 15659558.
• Mansharamani M, Wilson KL (2005). "Direct binding of nuclear membrane protein MAN1 to emerin in vitro and two modes of binding to barrier-to-autointegration factor". J. Biol. Chem. 280 (14): 13863–70. doi:10.1074/jbc.M413020200. PMID 15681850.
• Kim JE, Tannenbaum SR, White FM (2005). "Global phosphoproteome of HT-29 human colon adenocarcinoma cells". J. Proteome Res. 4 (4): 1339–46. doi:10.1021/pr050048h. PMID 16083285.
• Nousiainen M, Silljé HH, Sauer G, et al. (2006). "Phosphoproteome analysis of the human mitotic spindle". Proc. Natl. Acad. Sci. U.S.A. 103 (14): 5391–6. Bibcode:2006PNAS..103.5391N. doi:10.1073/pnas.0507066103. PMC 1459365. PMID 16565220.
• Beausoleil SA, Villén J, Gerber SA, et al. (2006). "A probability-based approach for high-throughput protein phosphorylation analysis and site localization". Nat. Biotechnol. 24 (10): 1285–92. doi:10.1038/nbt1240. PMID 16964243. S2CID 14294292.
• 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.
• Liu H, Lu ZG, Miki Y, Yoshida K (2007). "Protein Kinase C δ Induces Transcription of the TP53 Tumor Suppressor Gene by Controlling Death-Promoting Factor Btf in the Apoptotic Response to DNA Damage". Mol. Cell. Biol. 27 (24): 8480–91. doi:10.1128/MCB.01126-07. PMC 2169390. PMID 17938203.

External links

• FactorBook BCLAF1
• Human BCLAF1 genome location and BCLAF1 gene details page in the UCSC Genome Browser.