BCLAF1 Gene

Name	BCL2-associated transcription factor 1
Description	This gene encodes a transcriptional repressor that interacts with several members of the BCL2 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 isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Summary	{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\n BCLAF1 (Bcl‐2–associated transcription factor 1) is a multifunctional protein originally identified as a pro‐apoptotic factor and transcriptional repressor, but subsequent studies have revealed its widespread roles in RNA processing, DNA damage responses, cancer biology, development, and immune regulation (9). In the context of genome integrity, BCLAF1 participates in the cellular response to DNA damage by associating with phospho‐H2AX foci to help coordinate repair processes. Under conditions of extensive DNA damage, BCLAF1 facilitates apoptosis by modulating cell cycle regulators and caspase pathways, whereas in cells with reparable damage it can promote nonhomologous end joining through stabilization of repair complexes (4). Consistent with its role in maintaining genomic stability, BCLAF1 forms part of a BRCA1-containing splicing complex that regulates the alternative splicing and stabilization of transcripts encoding key DNA damage response proteins, and loss or misregulation of this function has been linked to genomic instability (3,6)."}]}, {"type": "t", "text": "\n \n "}, {"type": "p", "children": [{"type": "t", "text": "\n Moreover, BCLAF1 function is deregulated in several hematologic and solid malignancies. Chromosomal deletions affecting BCLAF1 have been detected in Waldenström macroglobulinemia (1), whereas in colorectal cancer, inclusion of an alternative exon (exon 5a) in BCLAF1, a process promoted by the splicing factor SRSF10, enhances tumorigenic potential (2). In addition, BCLAF1 is upregulated in response to doxorubicin‐induced senescence where it acts downstream of ATM/NF‐κB signaling to promote C/EBPβ and cytokine (IL‐6/IL‐8) expression, thereby reinforcing the senescence phenotype (7).\n "}]}, {"type": "t", "text": "\n \n "}, {"type": "p", "children": [{"type": "t", "text": "\n BCLAF1 is also critical for developmental and immune processes. Gene disruption studies have demonstrated that BCLAF1 is necessary for the proper spatial and temporal organization of smooth muscle lineages during lung development and for peripheral T‐cell homeostasis, even though overt apoptosis is not observed in BCLAF1–deficient cells (5). In T cells, transcription of BCLAF1 is tightly controlled by Sirt1 through mechanisms involving histone deacetylation, thereby modulating T‐cell activation (8). Finally, additional work has implicated BCLAF1 (historically also known as Btf) in ceramide‐mediated apoptotic signaling, where it governs the expression of key apoptotic regulators (10).\n "}]}, {"type": "t", "text": "\n \n "}, {"type": "p", "children": [{"type": "t", "text": "\n Collectively, these studies support a model in which BCLAF1 acts as a multifunctional regulator of RNA metabolism and DNA damage responses while also influencing oncogenesis, cellular senescence, development, and immune cell function (3,4,7,9).\n\n <br /><br />\n "}, {"type": "b", "children": [{"type": "t", "text": "Citations:"}]}, {"type": "t", "text": "\n <br />\n (1)"}, {"type": "fg", "children": [{"type": "fg_f", "ref": "1"}]}, {"type": "t", "text": ",\n (2)"}, {"type": "fg", "children": [{"type": "fg_f", "ref": "2"}]}, {"type": "t", "text": ",\n (3)"}, {"type": "fg", "children": [{"type": "fg_f", "ref": "3"}]}, {"type": "t", "text": ",\n (4)"}, {"type": "fg", "children": [{"type": "fg_f", "ref": "4"}]}, {"type": "t", "text": ",\n (5)"}, {"type": "fg", "children": [{"type": "fg_f", "ref": "5"}]}, {"type": "t", "text": ",\n (6)"}, {"type": "fg", "children": [{"type": "fg_f", "ref": "6"}]}, {"type": "t", "text": ",\n (7)"}, {"type": "fg", "children": [{"type": "fg_f", "ref": "7"}]}, {"type": "t", "text": ",\n (8)"}, {"type": "fg", "children": [{"type": "fg_f", "ref": "8"}]}, {"type": "t", "text": ",\n (9)"}, {"type": "fg", "children": [{"type": "fg_f", "ref": "9"}]}, {"type": "t", "text": ",\n (10)."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "10"}]}, {"type": "t", "text": ""}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Zachary R Hunter, Lian Xu, Guang Yang, et al. "}, {"type": "b", "children": [{"type": "t", "text": "The genomic landscape of Waldenstrom macroglobulinemia is characterized by highly recurring MYD88 and WHIM-like CXCR4 mutations, and small somatic deletions associated with B-cell lymphomagenesis."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Blood (2014)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1182/blood-2013-09-525808"}], "href": "https://doi.org/10.1182/blood-2013-09-525808"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "24366360"}], "href": "https://pubmed.ncbi.nlm.nih.gov/24366360"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Xuexia Zhou, Xuebing Li, Yuanming Cheng, et al. "}, {"type": "b", "children": [{"type": "t", "text": "BCLAF1 and its splicing regulator SRSF10 regulate the tumorigenic potential of colon cancer cells."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Nat Commun (2014)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/ncomms5581"}], "href": "https://doi.org/10.1038/ncomms5581"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "25091051"}], "href": "https://pubmed.ncbi.nlm.nih.gov/25091051"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Kienan I Savage, Julia J Gorski, Eliana M Barros, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Identification of a BRCA1-mRNA splicing complex required for efficient DNA repair and maintenance of genomic stability."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Mol Cell (2014)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.molcel.2014.03.021"}], "href": "https://doi.org/10.1016/j.molcel.2014.03.021"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "24746700"}], "href": "https://pubmed.ncbi.nlm.nih.gov/24746700"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Y Y Lee, Y B Yu, H P Gunawardena, et al. "}, {"type": "b", "children": [{"type": "t", "text": "BCLAF1 is a radiation-induced H2AX-interacting partner involved in γH2AX-mediated regulation of apoptosis and DNA repair."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Cell Death Dis (2012)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/cddis.2012.76"}], "href": "https://doi.org/10.1038/cddis.2012.76"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "22833098"}], "href": "https://pubmed.ncbi.nlm.nih.gov/22833098"}]}, {"type": "r", "ref": 5, "children": [{"type": "t", "text": "J Peter McPherson, H Sarras, B Lemmers, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Essential role for Bclaf1 in lung development and immune system function."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Cell Death Differ (2009)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/cdd.2008.167"}], "href": "https://doi.org/10.1038/cdd.2008.167"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "19008920"}], "href": "https://pubmed.ncbi.nlm.nih.gov/19008920"}]}, {"type": "r", "ref": 6, "children": [{"type": "t", "text": "Jekaterina Vohhodina, Eliana M Barros, Abigail L Savage, et al. "}, {"type": "b", "children": [{"type": "t", "text": "The RNA processing factors THRAP3 and BCLAF1 promote the DNA damage response through selective mRNA splicing and nuclear export."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Nucleic Acids Res (2017)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1093/nar/gkx1046"}], "href": "https://doi.org/10.1093/nar/gkx1046"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "29112714"}], "href": "https://pubmed.ncbi.nlm.nih.gov/29112714"}]}, {"type": "r", "ref": 7, "children": [{"type": "t", "text": "A-w Shao, H Sun, Y Geng, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Bclaf1 is an important NF-κB signaling transducer and C/EBPβ regulator in DNA damage-induced senescence."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Cell Death Differ (2016)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/cdd.2015.150"}], "href": "https://doi.org/10.1038/cdd.2015.150"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "26794446"}], "href": "https://pubmed.ncbi.nlm.nih.gov/26794446"}]}, {"type": "r", "ref": 8, "children": [{"type": "t", "text": "Sinyi Kong, Seung-Jae Kim, Barry Sandal, et al. "}, {"type": "b", "children": [{"type": "t", "text": "The type III histone deacetylase Sirt1 protein suppresses p300-mediated histone H3 lysine 56 acetylation at Bclaf1 promoter to inhibit T cell activation."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Biol Chem (2011)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1074/jbc.M111.218206"}], "href": "https://doi.org/10.1074/jbc.M111.218206"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "21454709"}], "href": "https://pubmed.ncbi.nlm.nih.gov/21454709"}]}, {"type": "r", "ref": 9, "children": [{"type": "t", "text": "Haya Sarras, Solmaz Alizadeh Azami, J Peter McPherson "}, {"type": "b", "children": [{"type": "t", "text": "In search of a function for BCLAF1."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "ScientificWorldJournal (2010)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1100/tsw.2010.132"}], "href": "https://doi.org/10.1100/tsw.2010.132"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "20661537"}], "href": "https://pubmed.ncbi.nlm.nih.gov/20661537"}]}, {"type": "r", "ref": 10, "children": [{"type": "t", "text": "Anne-Françoise Rénert, Pierre Leprince, Marc Dieu, et al. "}, {"type": "b", "children": [{"type": "t", "text": "The proapoptotic C16-ceramide-dependent pathway requires the death-promoting factor Btf in colon adenocarcinoma cells."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Proteome Res (2009)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1021/pr9005316"}], "href": "https://doi.org/10.1021/pr9005316"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "19705920"}], "href": "https://pubmed.ncbi.nlm.nih.gov/19705920"}]}]}]}
Synonyms	BK211L9.1, BTF
Proteins	BCLF1_HUMAN
NCBI Gene ID	9774
API
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Predicted Functions
Co-expressed Genes
Expression in Tissues and Cell Lines

Functional Associations

BCLAF1 has 10,901 functional associations with biological entities spanning 8 categories (molecular profile, organism, chemical, functional term, phrase or reference, disease, phenotype or trait, structural feature, cell line, cell type or tissue, gene, protein or microRNA) extracted from 123 datasets.

Click the + buttons to view associations for BCLAF1 from the datasets below.

If available, associations are ranked by standardized value

Harmonizome 3.0

BCLAF1 Gene

Functional Associations

Please acknowledge the Harmonizome in your publications by citing the following reference(s):

	Dataset	Summary
	Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles	tissues with high or low expression of BCLAF1 gene relative to other tissues from the Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles dataset.
	Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles	tissues with high or low expression of BCLAF1 gene relative to other tissues from the Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles dataset.
	Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles	tissue samples with high or low expression of BCLAF1 gene relative to other tissue samples from the Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles dataset.
	Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray	tissue samples with high or low expression of BCLAF1 gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray dataset.
	Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq	tissue samples with high or low expression of BCLAF1 gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq dataset.
	Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles	tissues with high or low expression of BCLAF1 gene relative to other tissues from the Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles dataset.
	BioGPS Cell Line Gene Expression Profiles	cell lines with high or low expression of BCLAF1 gene relative to other cell lines from the BioGPS Cell Line Gene Expression Profiles dataset.
	BioGPS Human Cell Type and Tissue Gene Expression Profiles	cell types and tissues with high or low expression of BCLAF1 gene relative to other cell types and tissues from the BioGPS Human Cell Type and Tissue Gene Expression Profiles dataset.
	BioGPS Mouse Cell Type and Tissue Gene Expression Profiles	cell types and tissues with high or low expression of BCLAF1 gene relative to other cell types and tissues from the BioGPS Mouse Cell Type and Tissue Gene Expression Profiles dataset.
	Carcinogenome Chemical Perturbation Carcinogenicity Signatures	small molecule perturbations changing expression of BCLAF1 gene from the Carcinogenome Chemical Perturbation Carcinogenicity Signatures dataset.
	CCLE Cell Line Gene CNV Profiles	cell lines with high or low copy number of BCLAF1 gene relative to other cell lines from the CCLE Cell Line Gene CNV Profiles dataset.
	CCLE Cell Line Gene Expression Profiles	cell lines with high or low expression of BCLAF1 gene relative to other cell lines from the CCLE Cell Line Gene Expression Profiles dataset.
	CCLE Cell Line Proteomics	Cell lines associated with BCLAF1 protein from the CCLE Cell Line Proteomics dataset.
	ChEA Transcription Factor Binding Site Profiles	transcription factor binding site profiles with transcription factor binding evidence at the promoter of BCLAF1 gene from the CHEA Transcription Factor Binding Site Profiles dataset.
	ChEA Transcription Factor Targets	transcription factors binding the promoter of BCLAF1 gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets dataset.
	ChEA Transcription Factor Targets 2022	transcription factors binding the promoter of BCLAF1 gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets 2022 dataset.
	CM4AI U2OS Cell Map Protein Localization Assemblies	assemblies containing BCLAF1 protein from integrated AP-MS and IF data from the CM4AI U2OS Cell Map Protein Localization Assemblies dataset.
	CMAP Signatures of Differentially Expressed Genes for Small Molecules	small molecule perturbations changing expression of BCLAF1 gene from the CMAP Signatures of Differentially Expressed Genes for Small Molecules dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores	cellular components containing BCLAF1 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores 2025	cellular components containing BCLAF1 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.
	COMPARTMENTS Experimental Protein Localization Evidence Scores	cellular components containing BCLAF1 protein in low- or high-throughput protein localization assays from the COMPARTMENTS Experimental Protein Localization Evidence Scores dataset.
	COMPARTMENTS Experimental Protein Localization Evidence Scores 2025	cellular components containing BCLAF1 protein in low- or high-throughput protein localization assays from the COMPARTMENTS Experimental Protein Localization Evidence Scores 2025 dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores	cellular components co-occuring with BCLAF1 protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025	cellular components co-occuring with BCLAF1 protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.
	COSMIC Cell Line Gene CNV Profiles	cell lines with high or low copy number of BCLAF1 gene relative to other cell lines from the COSMIC Cell Line Gene CNV Profiles dataset.
	COSMIC Cell Line Gene Mutation Profiles	cell lines with BCLAF1 gene mutations from the COSMIC Cell Line Gene Mutation Profiles dataset.
	CTD Gene-Chemical Interactions	chemicals interacting with BCLAF1 gene/protein from the curated CTD Gene-Chemical Interactions dataset.
	CTD Gene-Disease Associations	diseases associated with BCLAF1 gene/protein from the curated CTD Gene-Disease Associations dataset.
	DeepCoverMOA Drug Mechanisms of Action	small molecule perturbations with high or low expression of BCLAF1 protein relative to other small molecule perturbations from the DeepCoverMOA Drug Mechanisms of Action dataset.
	DISEASES Text-mining Gene-Disease Association Evidence Scores	diseases co-occuring with BCLAF1 gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.
	DISEASES Text-mining Gene-Disease Association Evidence Scores 2025	diseases co-occuring with BCLAF1 gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
	DisGeNET Gene-Disease Associations	diseases associated with BCLAF1 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
	DisGeNET Gene-Phenotype Associations	phenotypes associated with BCLAF1 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Phenoptype Associations dataset.
	ENCODE Histone Modification Site Profiles	histone modification site profiles with high histone modification abundance at BCLAF1 gene from the ENCODE Histone Modification Site Profiles dataset.
	ENCODE Transcription Factor Binding Site Profiles	transcription factor binding site profiles with transcription factor binding evidence at the promoter of BCLAF1 gene from the ENCODE Transcription Factor Binding Site Profiles dataset.
	ENCODE Transcription Factor Targets	transcription factors binding the promoter of BCLAF1 gene in ChIP-seq datasets from the ENCODE Transcription Factor Targets dataset.
	ESCAPE Omics Signatures of Genes and Proteins for Stem Cells	PubMedIDs of publications reporting gene signatures containing BCLAF1 from the ESCAPE Omics Signatures of Genes and Proteins for Stem Cells dataset.
	GAD Gene-Disease Associations	diseases associated with BCLAF1 gene in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
	GDSC Cell Line Gene Expression Profiles	cell lines with high or low expression of BCLAF1 gene relative to other cell lines from the GDSC Cell Line Gene Expression Profiles dataset.
	GeneRIF Biological Term Annotations	biological terms co-occuring with BCLAF1 gene in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.