2. Gene
  3. BCLAF1 - BCL2 associated transcription factor 1 Gene

BCLAF1 - BCL2 associated transcription factor 1 Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens

Also known as BTF; bK211L9.1

Gene ID: 9774 | Gene type: protein coding

About BCLAF1

Cytogenetic location: 6q23.3 Genomic coordinates (GRCh38): 6:136,256,627-136,289,846 (from NCBI)

This gene has 24 transcripts (splice variants), 144 orthologues, 2 paralogues and is associated with 87 phenotypes. Ubiquitous expression in bone marrow (RPKM 53.4), thyroid (RPKM 22.3) and 25 other tissues.

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-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]

BCLAF1 Products(17)

mRNA Protein Name
NM_001077440.3 NP_001070908.1 bcl-2-associated transcription factor 1 isoform 2
NM_001077441.3 NP_001070909.1 bcl-2-associated transcription factor 1 isoform 3
NM_001301038.3 NP_001287967.1 bcl-2-associated transcription factor 1 isoform 4
NM_001363659.3 NP_001350588.1 bcl-2-associated transcription factor 1 isoform 5
NM_001386693.1 NP_001373622.1 bcl-2-associated transcription factor 1 isoform 6
NM_001386694.1 NP_001373623.1 bcl-2-associated transcription factor 1 isoform 7
NM_001386695.1 NP_001373624.1 bcl-2-associated transcription factor 1 isoform 8
NM_001386696.1 NP_001373625.1 bcl-2-associated transcription factor 1 isoform 9
NM_001386697.1 NP_001373626.1 bcl-2-associated transcription factor 1 isoform 10
NM_001386698.1 NP_001373627.1 bcl-2-associated transcription factor 1 isoform 11
NM_001386699.1 NP_001373628.1 bcl-2-associated transcription factor 1 isoform 12
NM_001386700.1 NP_001373629.1 bcl-2-associated transcription factor 1 isoform 1
NM_001386701.1 NP_001373630.1 bcl-2-associated transcription factor 1 isoform 1
NM_001386702.1 NP_001373631.1 bcl-2-associated transcription factor 1 isoform 3
NM_001386703.1 NP_001373632.1 bcl-2-associated transcription factor 1 isoform 9
NM_001386704.1 NP_001373633.1 bcl-2-associated transcription factor 1 isoform 10
NM_014739.3 NP_055554.1 bcl-2-associated transcription factor 1 isoform 1
Gene Ontology
  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Reference Source
enables DNA binding IDA
IDA: Inferred from direct assay
10330179 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
10837489 GOA
Biological Process GO Annotation Evidence Reference Source
involved in DNA damage response IMP
IMP: Inferred from mutant phenotype
17938203 GOA
acts upstream of or within negative regulation of DNA-templated transcription IDA
IDA: Inferred from direct assay
10330179 GOA
involved in positive regulation of DNA-templated transcription initiation IMP
IMP: Inferred from mutant phenotype
17938203 GOA
acts upstream of or within positive regulation of apoptotic process IDA
IDA: Inferred from direct assay
10330179 GOA
involved in positive regulation of intrinsic apoptotic signaling pathway IMP
IMP: Inferred from mutant phenotype
17938203 GOA
Cellular Component GO Annotation Evidence Reference Source
located in nuclear speck IDA
IDA: Inferred from direct assay
24100041 GOA
located in nucleoplasm IDA
IDA: Inferred from direct assay
24100041 GOA
located in nucleus IDA
IDA: Inferred from direct assay
10330179 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

BCLAF1 Protein Structure

THRAP3_BCLAF1

THRAP3_BCLAF1: THRAP3/BCLAF1 family (108 - 790)

  • 0
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  • 800
  • 920 a.a.
Protein Preferred Names Protein Names

bcl-2-associated transcription factor 1

BCLAF1 and THRAP3 family member 1

Related Diseases

Diseases Alias
Emery-Dreifuss Muscular Dystrophy

Edmd

Emery-Dreifuss Syndrome

Muscular Dystrophy, Emery-Dreifuss

Humeroperoneal Neuromuscular Disease

Muscular Dystrophy, Tardive, Dreifuss-Emery Type, With Contractures

Scapuloperoneal Syndrome, X-Linked

Benign Scapuloperoneal Muscular Dystrophy With Early Contractures

Muscular Dystrophy, Emery-Dreifuss Type

Muscular Dystrophy Emery-Dreifuss

Dystrophy, Muscular, Emery-Dreifuss

Emd - [Emery-Dreifuss Muscular Dystrophy]
Uterine Adnexa Cancer
Muscular Dystrophy

Muscular Dystrophies

Congenital Md

Congenital Muscular Dystrophy

Cmd

Mdc

Dystrophy, Muscular

Gower'S Muscular Dystrophy

Progressive Musclular Dystrophy

Pseudohypertrophic Atrophy

Pseudohypertrophic Muscle Paralysis

Pseudohypertrophic Muscular Atrophy

Pseudohypertrophic Muscular Dystrophy

Pseudohypertrophic Paralysis

Pseudomuscular Hypertrophy
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase
Bioactive Molecules (1)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-RS01445 BCLAF1 Human Pre-designed siRNA Set A Pre-designed Sets / Unkown

Orthologs Information

Species Symbol Source ID
Bos taurus BCLAF1 VGNC VGNC:26451
Felis catus BCLAF1 VGNC VGNC:97365
Canis familiaris BCLAF1 VGNC VGNC:38415
Macaca mulatta BCLAF1 VGNC VGNC:81045
Mus musculus BCLAF1 MGD MGI:1917580