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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 (BCL2 Associated Transcription Factor 1) is a Protein Coding gene. Diseases associated with BCLAF1 include Epidermolysis Bullosa Simplex With Nail Dystrophy and Emery-Dreifuss Muscular Dystrophy. Among its related pathways are Interactome of polycomb repressive complex 2 (PRC2). An important paralog of this gene is THRAP3.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0003677 | DNA binding | IDA | 10330179 |
GO:0003712 | transcription coregulator activity | IBA | 21873635 |
GO:0003723 | RNA binding | HDA | 22658674 |
GO:0005515 | protein binding | IPI | 10837489 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005634 | nucleus | IEA,IDA | 10330179 |
GO:0005654 | nucleoplasm | IEA,IDA | 24100041 |
GO:0005737 | cytoplasm | IEA | -- |
GO:0016592 | mediator complex | IBA | 21873635 |
GO:0016607 | nuclear speck | IDA | 24100041 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Interactome of polycomb repressive complex 2 (PRC2) |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006915 | apoptotic process | IEA,TAS | 10330179 |
GO:0043065 | positive regulation of apoptotic process | IDA | 10330179 |
GO:0043620 | regulation of DNA-templated transcription in response to stress | IMP | 17938203 |
GO:0045892 | negative regulation of transcription, DNA-templated | IEA,TAS | 10330179 |
GO:0045944 | positive regulation of transcription by RNA polymerase II | IBA | 21873635 |
ExUns: | 1a | · | 1b | ^ | 2 | ^ | 3a | · | 3b | ^ | 4a | · | 4b | ^ | 5a | · | 5b | · | 5c | ^ | 6a | · | 6b | ^ | 7a | · | 7b | · | 7c | ^ | 8a | · | 8b | ^ | 9 | ^ | 10a | · | 10b | · | 10c | ^ | 11 | ^ | 12 | ^ | 13a | · | 13b | · | 13c | ^ |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
SP2: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
SP3: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
SP4: | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||
SP5: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP6: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP7: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP8: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP9: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP10: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
SP11: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP12: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP13: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP14: |
ExUns: | 14a | · | 14b | ^ | 15 | ^ | 16 | ^ | 17 | ^ | 18 | ^ | 19a | · | 19b |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | |||||||||||||||
SP2: | - | - | |||||||||||||
SP3: | |||||||||||||||
SP4: | |||||||||||||||
SP5: | |||||||||||||||
SP6: | |||||||||||||||
SP7: | |||||||||||||||
SP8: | |||||||||||||||
SP9: | |||||||||||||||
SP10: | |||||||||||||||
SP11: | - | ||||||||||||||
SP12: | |||||||||||||||
SP13: | |||||||||||||||
SP14: |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | BCLAF1 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | BCLAF1 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | BCLAF1 30 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | BCLAF1 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Bclaf1 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Bclaf1 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | -- 31 |
|
OneToMany | |
-- 31 |
|
OneToMany | |||
Chicken (Gallus gallus) |
Aves | BCLAF1 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | BCLAF1 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | bclaf1 30 |
|
||
Str.20167 30 |
|
||||
African clawed frog (Xenopus laevis) |
Amphibia | Xl.24564 30 |
|
SNP ID | Clinical significance and condition | Chr 06 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
748447 | Likely Benign: not provided | 136,273,153(-) | G/A | SYNONYMOUS_VARIANT | |
750536 | Likely Benign: not provided | 136,273,117(-) | T/C | SYNONYMOUS_VARIANT | |
870145 | Uncertain Significance: Epidermolysis bullosa simplex with nail dystrophy | 136,282,688(-) | C/CGACACGCCGA | SPLICE_ACCEPTOR_VARIANT | |
rs141173428 | Benign: not specified | 136,278,253(-) | C/T | MISSENSE_VARIANT | |
rs62431283 | Benign: not specified | 136,261,279(-) | G/A | MISSENSE_VARIANT |
Disorder | Aliases | PubMed IDs |
---|---|---|
epidermolysis bullosa simplex with nail dystrophy |
|
|
emery-dreifuss muscular dystrophy |
|
|
uterine adnexa cancer |
|
|
wilms tumor 1 |
|
|
muscular dystrophy |
|
|