BCLAF1 - BCL2 associated transcription factor 1 Gene

Also Known as BTF; bK211L9.1

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 9774

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 References 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 References 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 References 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
  • 200
  • 400
  • 600
  • 800
  • 920 a.a.
Protein Preferred Names Protein Names

bcl-2-associated transcription factor 1

  • BCLAF1 and THRAP3 family member 1

BCLAF1 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
BCLAF1 Q9NYF8 CORO2A Homo sapiens Q92828
Anti Tag CoIP
33961781
Intra
BCLAF1 Q9NYF8 EMD Homo sapiens P50402
Y2H
15009215
Intra
BCLAF1 Q9NYF8 BCL2 Homo sapiens P10415
Anti Bait CoIP
23541952
Cross: Cross-species interaction Intra: Intraspecies interaction

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

Pre-clinical Phase

Bioactive Molecules (4)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-183831 GPS167 / Unkown
HY-RS01445 BCLAF1 Human Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS21100 Bclaf1 Mouse Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS27618 Bclaf1 Rat Pre-designed siRNA Set A Pre-designed Set / 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
Others BCLAF1 NCBI