Gene Gene information from NCBI Gene database.
Entrez ID 9774
Gene name BCL2 associated transcription factor 1
Gene symbol BCLAF1
Synonyms (NCBI Gene)
BTFbK211L9.1
Chromosome 6
Chromosome location 6q23.3
Summary 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-lik
miRNA miRNA information provided by mirtarbase database.
405
miRTarBase ID miRNA Experiments Reference
MIRT003063 kshv-miR-K12-5-3p Luciferase reporter assay 19098914
MIRT003063 kshv-miR-K12-5-3p Luciferase reporter assay 19098914
MIRT003063 kshv-miR-K12-5-3p Luciferase reporter assay 19098914
MIRT003063 kshv-miR-K12-5-3p Luciferase reporter assay 19098914
MIRT003063 kshv-miR-K12-5-3p Luciferase reporter assay 19098914
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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GO ID Ontology Definition Evidence Reference
GO:0003677 Function DNA binding IBA
GO:0003677 Function DNA binding IDA 10330179
GO:0003677 Function DNA binding IEA
GO:0003712 Function Transcription coregulator activity IBA
GO:0003723 Function RNA binding HDA 22658674, 22681889
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
612588 16863 ENSG00000029363
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9NYF8
Protein name Bcl-2-associated transcription factor 1 (Btf) (BCLAF1 and THRAP3 family member 1)
Protein function Death-promoting transcriptional repressor. May be involved in cyclin-D1/CCND1 mRNA stability through the SNARP complex which associates with both the 3'end of the CCND1 gene and its mRNA.
PDB 7RJN , 7RJR
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF15440 THRAP3_BCLAF1 108 767 THRAP3/BCLAF1 family Family
Tissue specificity TISSUE SPECIFICITY: Ubiquitous.
Sequence
MGRSNSRSHSSRSKSRSQSSSRSRSRSHSRKKRYSSRSRSRTYSRSRSRDRMYSRDYRRD
YRNNRGMRRPYGYRGRGRGYYQGGGGRYHRGGYRPVWNRRHSRSPRRGRSRSRSPKRRSV
SSQRSRSRSRRSYRSSRSPRSSSSRSSSPYSKSPVSKRRGSQEKQTKKAEGEPQEESPLK
SKSQEEPKDTFEHDPSESIDEFNKSSATSGDIWPGLSAYDNSPRSPHSPSPIATPPSQSS
SCSDAPMLSTVHSAKNTPSQHSHSIQHSPERSGSGSVGNGSSRYSPSQNSPIHHIPSRRS
PAKTIAPQNAPRDESRGRSSFYPDGGDQETAKTGKFLKRFTDEESRVFLLDRGNTRDKEA
SKEKGSEKGRAEGEWEDQEALDYFSDKESGKQKFNDSEGDDTEETEDYRQFRKSVLADQG
KSFATASHRNTEEEGLKYKSKVSLKGNRESDGFREEKNYKLKETGYVVERPSTTKDKHKE
EDKNSERITVKKETQSPEQVKSEKLKDLFDYSPPLHKNLDAREKSTFREESPLRIKMIAS
DSHRPEVKLKMAPVPLDDSNRPASLTKDRLLASTLVHSVKKEQEFRSIFDHIKLPQASKS
TSESFIQHIVSLVHHVKEQYFKSAAMTLNERFTSYQKATEEHSTRQKSPEIHRRIDISPS
TLRKHTRLAGEERVFKEENQKGDKKLRCDSADLRHDIDRRRKERSKERGDSKGSRESSGS
RKQEKTPKDYKEYKSYKDDSKHKREQDHSRSSSSSASPSSPSSREEK
ESKKEREEEFKTH
HEMKEYSGFAGVSRPRGTFFRIRGRGRARGVFAGTNTGPNNSNTTFQKRPKEEEWDPEYT
PKSKKYFLHDDRDDGVDYWAKRGRGRGTFQRGRGRFNFKKSGSSPKWTHDKYQGDGIVED
EEETMENNEEKKDRRKEEKE
Sequence length 920
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
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Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Pulmonary artery atresia Pathogenic rs760051929, rs779302959 RCV002512179
RCV002512188
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
BCLAF1-related disorder Likely benign; Benign rs777894318, rs62431286, rs148203420, rs149673256, rs77081633, rs62431284, rs62431287 RCV003919738
RCV003979752
RCV003914376
RCV003959040
RCV003925306
RCV003972663
RCV003972664
Clear cell carcinoma of kidney Likely benign; Uncertain significance rs148203420, rs879165205 RCV005938730
RCV005898178
Epidermolysis bullosa simplex with nail dystrophy Uncertain significance rs1784536674 RCV001089665
Fraser syndrome 3 Uncertain significance rs1784536674 RCV001251005
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Amyotrophic Lateral Sclerosis Associate 36418457, 38056214
Atherosclerosis Associate 36720950
Breast Neoplasms Associate 32497068, 35150481
Carcinoma Hepatocellular Stimulate 37906282
Colorectal Neoplasms Associate 35660018
Esophageal Squamous Cell Carcinoma Associate 24402574
Hereditary Breast and Ovarian Cancer Syndrome Associate 32497068
Leukemia Large Granular Lymphocytic Associate 28407008
Leukemia Myeloid Acute Associate 28216661
Lymphoma Large B Cell Diffuse Associate 29969367