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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. Mul... See more...
Aliases for BCLAF1 Gene
Aliases for BCLAF1 Gene
External Ids for BCLAF1 Gene
- HGNC: 16863
- Entrez Gene: 9774
- Ensembl: ENSG00000029363
- OMIM: 612588
- UniProtKB: Q9NYF8
Previous GeneCards Identifiers for BCLAF1 Gene
- GC06M136560
- GC06M136621
- GC06M134142
- GC06M136578
Summaries for BCLAF1 Gene
-
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]
GeneCards Summary for BCLAF1 Gene
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.
UniProtKB/Swiss-Prot Summary for BCLAF1 Gene
-
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.
Additional gene information for BCLAF1 Gene
- HGNC(16863)
- Entrez Gene(9774)
- Ensembl(ENSG00000029363)
- OMIM(612588)
- UniProtKB(Q9NYF8)
- Open Targets Platform(ENSG00000029363)
- Search for BCLAF1 at DataMed
- Search for BCLAF1 at HumanCyc
No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for BCLAF1 Gene
Genomics for BCLAF1 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for BCLAF1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around BCLAF1 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for BCLAF1
- Top Transcription factor binding sites by QIAGEN in the BCLAF1 gene promoter:
-
- NF-kappaB
- NF-kappaB1
- NF-kappaB2
- Nkx3-1 v2
- Nkx3-1 v3
- Nkx3-1 v4
- Sp1
- STAT1
- STAT5A
- YY1
Genomic Locations for BCLAF1 Gene
Genomic Locations for BCLAF1 Gene
- chr6:136,256,627-136,289,851
- (GRCh38/hg38)
- Size:
- 33,225 bases
- Orientation:
- Minus strand
- chr6:136,578,001-136,610,989
- (GRCh37/hg19)
- Size:
- 32,989 bases
- Orientation:
- Minus strand
Genomic View for BCLAF1 Gene
Genes around BCLAF1 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 6q23.3 by HGNC
- 6q23.3 by Entrez Gene
- 6q23.3 by Ensembl
BCLAF1 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for BCLAF1 Gene
Proteins for BCLAF1 Gene
-
Protein details for BCLAF1 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q9NYF8-BCLF1_HUMAN
- Recommended name:
- Bcl-2-associated transcription factor 1
- Protein Accession:
- Q9NYF8
- A2RU75
- B7ZM58
- E1P586
- Q14673
- Q86WU6
- Q86WY0
Protein attributes for BCLAF1 Gene
- Size:
- 920 amino acids
- Molecular mass:
- 106122 Da
- Quaternary structure:
-
- Interacts with Bcl-2 related proteins, EMD, with the adenovirus E1B 19 kDa protein and with DNA. Component of the SNARP complex which consists at least of SNIP1, SNW1, THRAP3, BCLAF1 and PNN. Component of a MACOM-like complex, named WTAP complex, composed of WTAP, ZC3H13, CBLL1, KIAA1429, RBM15, BCLAF1 and THRAP3.
- SequenceCaution:
-
- Sequence=AAH47687.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305}; Sequence=AAH47887.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305}; Sequence=AAH56894.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305}; Sequence=AAH63846.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305}; Sequence=BAA11481.2; Type=Erroneous initiation; Evidence={ECO:0000305};
Protein Expression for BCLAF1 Gene
Post-translational modifications for BCLAF1 Gene
- Citrullinated by PADI4.
-
Ubiquitination at Lys567, Lys421, Lys593, Lys622, Lys517, and Lys845
- NX_Q9NYF8 (NX_Q9NYF8-1)
- Modification sites at PhosphoSitePlus
Other Protein References for BCLAF1 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- G Biosciences Immunotag™ BCLAF1 Antibody
-
Custom Antibody ServicesOriGene Antibodies for BCLAF1
- Novus Biologicals Antibodies for BCLAF1
-
Abcam antibodies for BCLAF1
- Invitrogen Antibodies for BCLAF1 (AFLGC-BCLAF1)
- antibodies-online: Show 26 available BCLAF1 Antibodies ranked by validation data
- Compare Top BCLAF1 Antibodies
-
Recommended
- 21 WB Antibodies (anti-rat)
- 12 IF (p) Antibodies (anti-rat)
- 30 WB Antibodies (anti-mouse)
- 12 IF (p) Antibodies (anti-mouse)
- 2 IHC Antibodies (anti-mouse)
- 82 WB Antibodies (anti-human)
- 12 IF (p) Antibodies (anti-human)
- 5 IHC Antibodies (anti-human)
- 4 IHC (p) Antibodies (anti-human)
- 1 IF Antibody (anti-human)
- 1 IF/ICC Antibody (anti-human)
-
Biorbyt antibodies for BCLAF1
-
Custom Antibody ServicesProSci Antibodies for BCLAF1
-
Santa Cruz Biotechnology (SCBT) Antibodies for BCLAF1
Protein Products
-
OriGene Purified Proteins for BCLAF1
- Search Origene for MassSpec and Protein Over-expression Lysates for BCLAF1
- Origene Custom Protein Services for BCLAF1
No data available for DME Specific Peptides for BCLAF1 Gene
Domains & Families for BCLAF1 Gene
Gene Families for BCLAF1 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Cancer-related genes
- Plasma proteins
- Predicted intracellular proteins
Protein Domains for BCLAF1 Gene
- InterPro:
- ProtoNet:
Suggested Antigen Peptide Sequences for BCLAF1 Gene
- GenScript: Design optimal peptide antigens:
-
- Bcl-2-associated transcription factor 1 (BCLF1_HUMAN)
- BCLAF1 protein (Q6DCA8_HUMAN)
Graphical View of Domain Structure for InterPro Entry
Q9NYF8- Family:
-
- Belongs to the BCLAF1/THRAP3 family.
Function for BCLAF1 Gene
Molecular function for BCLAF1 Gene
- UniProtKB/Swiss-Prot 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.
Phenotypes From GWAS Catalog for BCLAF1 Gene
| 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 |
Phenotypes for BCLAF1 Gene
- MGI mutant phenotypes for BCLAF1:
- inferred from 3 alleles
- GenomeRNAi human phenotypes for BCLAF1:
-
- Increased vaccinia virus (VACV) infection
- no effect
- Resistant to vaccinia virus (VACV-A4L) infection
- shRNA abundance <= 50%
- Increased shRNA abundance (Z-score > 2)
- Increased IL-8 secretion
- Decreased shRNA abundance (Z-score < -2)
- Decreased HIV-LTR-beta-galactosidase protein expression
- Increased S DNA content
- Decreased viability in colon lineage; decreased viability in pancreas lineage
Animal Models for BCLAF1 Gene
Animal Model Products
-
Taconic Biosciences Mouse Models for BCLAF1
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for BCLAF1 - Select products 50% OFF >
- * BCLAF1 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for BCLAF1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for BCLAF1
-
Santa Cruz Biotechnology (SCBT) CRISPR for BCLAF1
miRNA for BCLAF1 Gene
- miRTarBase miRNAs that target BCLAF1
-
- mmu-miR-9-5p (MIRT015311)
- hsa-miR-34a-5p (MIRT025263)
- hsa-miR-877-3p (MIRT037120)
- hsa-miR-423-5p (MIRT038025)
- hsa-miR-342-5p (MIRT038219)
- hsa-miR-22-5p (MIRT038963)
- hsa-miR-615-3p (MIRT040388)
- hsa-miR-26b-5p (MIRT050044)
- hsa-miR-524-5p (MIRT359805)
- hsa-miR-520d-5p (MIRT359806)
- hsa-miR-142-3p (MIRT441110)
- hsa-miR-561-3p (MIRT549216)
- hsa-miR-548t-5p (MIRT549217)
- hsa-miR-548az-5p (MIRT549218)
- hsa-miR-548n (MIRT549219)
- hsa-miR-424-3p (MIRT549220)
- hsa-miR-146a-5p (MIRT731814)
- hsa-miR-194-5p (MIRT735052)
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for BCLAF1
- Browse OriGene Inhibitory RNA Products For BCLAF1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for BCLAF1
Clone Products
- Applied Biological Materials (abm): Clones for BCLAF1 - Select products 50% OFF >
- * BCLAF1 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
- MG211171
- MG216246
- MG217775
- MR211171
- MR211171L3
- MR211171L4
- MR216246
- MR216246L3
- MR216246L4
- MR217775
- MR217775L3
- MR217775L4
- RC215839
- RC215839L3
- RC215839L4
- RC215897
- RC215897L3
- RC215897L4
- RC224372
- RC224372L1
- RC224372L2
- RC224372L3
- RC224372L4
- RC239784
- RG215839
- RG215897
- RG224372
- RR203804
- RR203804L3
- RR203804L4
- MR211171L3V
- MR211171L4V
- MR216246L3V
- MR216246L4V
- MR217775L3V
- MR217775L4V
- RC215839L3V
- RC215839L4V
- RC215897L3V
- RC215897L4V
- RC224372L1V
- RC224372L2V
- RC224372L3V
- RC224372L4V
- RR203804L3V
- RR203804L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for BCLAF1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for BCLAF1
No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for BCLAF1 Gene
Localization for BCLAF1 Gene
Subcellular locations from UniProtKB/Swiss-Prot for BCLAF1 Gene
- Cytoplasm. Nucleus. Nucleus speckle. Nucleus, nucleoplasm.
| Compartment | Confidence |
|---|---|
| nucleus | 5 |
| cytosol | 3 |
| extracellular | 2 |
| cytoskeleton | 2 |
| mitochondrion | 2 |
| plasma membrane | 1 |
| endoplasmic reticulum | 1 |
| endosome | 1 |
| lysosome | 1 |
| golgi apparatus | 1 |
- Nuclear speckles (4)
| 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 |
Pathways & Interactions for BCLAF1 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Interactome of polycomb repressive complex 2 (PRC2) | ||
Pathways by source for BCLAF1 Gene
1 BioSystems pathway for BCLAF1 Gene
Interacting Proteins for BCLAF1 Gene
Selected Interacting proteins:
Q9NYF8-BCLF1_HUMAN
ENSP00000435210
for BCLAF1 Gene via
UniProtKB
MINT
STRING
IID
GPS-Prot Interaction Network for BCLAF1
| 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 |
No data available for SIGNOR curated interactions for BCLAF1 Gene
Transcripts for BCLAF1 Gene
mRNA/cDNA for BCLAF1 Gene
- 5 REFSEQ mRNAs :
- 21 NCBI additional mRNA sequence :
- 24 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000640069 7719 nts (view in UCSC)
- ENST00000531224 7494 nts (view in UCSC)
- ENST00000533422 692 nts (view in UCSC)
- ENST00000527536 5371 nts (view in UCSC)
- ENST00000527613 5640 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for BCLAF1 - Select products 50% OFF >
- * BCLAF1 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for BCLAF1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for BCLAF1
-
Santa Cruz Biotechnology (SCBT) CRISPR for BCLAF1
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for BCLAF1
- Browse OriGene Inhibitory RNA Products For BCLAF1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for BCLAF1
Clone Products
- Applied Biological Materials (abm): Clones for BCLAF1 - Select products 50% OFF >
- * BCLAF1 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
- MG211171
- MG216246
- MG217775
- MR211171
- MR211171L3
- MR211171L4
- MR216246
- MR216246L3
- MR216246L4
- MR217775
- MR217775L3
- MR217775L4
- RC215839
- RC215839L3
- RC215839L4
- RC215897
- RC215897L3
- RC215897L4
- RC224372
- RC224372L1
- RC224372L2
- RC224372L3
- RC224372L4
- RC239784
- RG215839
- RG215897
- RG224372
- RR203804
- RR203804L3
- RR203804L4
- MR211171L3V
- MR211171L4V
- MR216246L3V
- MR216246L4V
- MR217775L3V
- MR217775L4V
- RC215839L3V
- RC215839L4V
- RC215897L3V
- RC215897L4V
- RC224372L1V
- RC224372L2V
- RC224372L3V
- RC224372L4V
- RR203804L3V
- RR203804L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for BCLAF1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for BCLAF1
| 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: |
Relevant External Links for BCLAF1 Gene
- GeneLoc Exon Structure for
- BCLAF1
Expression for BCLAF1 Gene
This gene is overexpressed in Peripheral blood mononuclear cells (8.1) and Fetal testis (6.2).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for BCLAF1 Gene
- Elite partner
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for BCLAF1
SOURCE GeneReport for Unigene cluster for BCLAF1 Gene:
Hs.486542mRNA Expression by UniProt/SwissProt for BCLAF1 Gene:
Q9NYF8-BCLF1_HUMAN
Tissue specificity:
Ubiquitous.
Evidence on tissue expression from TISSUES for BCLAF1 Gene
- Nervous system(4.9)
- Liver(4.6)
- Bone marrow(4.5)
- Pancreas(4.5)
- Blood(4.5)
- Lung(3)
- Skin(2.8)
- Intestine(2.7)
- Kidney(2.7)
- Heart(2.6)
- Muscle(2.6)
- Spleen(2.5)
- Lymph node(2.5)
- Thyroid gland(2.2)
- Stomach(2.1)
Primer Products
-
OriGene qPCR primer pairs for BCLAF1
Gene Expression Assay Products
No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for BCLAF1 Gene
Orthologs for BCLAF1 Gene
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 |
|
- Species where no ortholog for BCLAF1 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African malaria mosquito (Anopheles gambiae)
- Alicante grape (Vitis vinifera)
- Alpha proteobacteria (Wolbachia pipientis)
- Amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- Baker's yeast (Saccharomyces cerevisiae)
- Barley (Hordeum vulgare)
- Beta proteobacteria (Neisseria meningitidis)
- Bread mold (Neurospora crassa)
- Chromalveolata (Phytophthora infestans)
- Common water flea (Daphnia pulex)
- Corn (Zea mays)
- E. coli (Escherichia coli)
- Filamentous fungi (Aspergillus nidulans)
- Firmicute Bacteria (Streptococcus pneumoniae)
- Fission Yeast (Schizosaccharomyces pombe)
- Fruit Fly (Drosophila melanogaster)
- Green Algae (Chlamydomonas reinhardtii)
- Honey Bee (Apis mellifera)
- K. Lactis Yeast (Kluyveromyces lactis)
- Loblloly Pine (Pinus taeda)
- Malaria Parasite (Plasmodium falciparum)
- Medicago Trunc (Medicago Truncatula)
- Moss (Physcomitrella patens)
- Orangutan (Pongo pygmaeus)
- Pig (Sus scrofa)
- Rainbow Trout (Oncorhynchus mykiss)
- Rice (Oryza sativa)
- Rice Blast Fungus (Magnaporthe grisea)
- Schistosome Parasite (Schistosoma mansoni)
- Sea Anemone (Nematostella vectensis)
- Sea Vase (Ciona intestinalis)
- Sea Squirt (Ciona savignyi)
- Sea Urchin (Strongylocentrotus purpuratus)
- Sorghum (Sorghum bicolor)
- Soybean (Glycine max)
- Stem Rust Fungus (Puccinia graminis)
- Sugarcane (Saccharum officinarum)
- Thale Cress (Arabidopsis thaliana)
- Tomato (Lycopersicon esculentum)
- Toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- Wheat (Triticum aestivum)
- Worm (Caenorhabditis elegans)
- Zebrafish (Danio rerio)
Evolution for BCLAF1 Gene
- ENSEMBL:
- Gene Tree for BCLAF1 (if available)
- TreeFam:
- Gene Tree for BCLAF1 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for BCLAF1: view image
Paralogs for BCLAF1 Gene
(1) SIMAP similar genes for BCLAF1 Gene using alignment to 11 proteins:
- BCLF1_HUMAN
- B0AZU3_HUMAN
- E9PJA7_HUMAN
- E9PK09_HUMAN
- E9PK91_HUMAN
- E9PKI6_HUMAN
- E9PQN2_HUMAN
- H0YF00_HUMAN
- H0YF14_HUMAN
- H0YF63_HUMAN
- Q6DCA8_HUMAN
Pseudogenes.org Pseudogenes for BCLAF1 Gene
Variants for BCLAF1 Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for BCLAF1 Gene
| 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 |
Residual Variation Intolerance Score:
99.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
11.75;
93.31% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for BCLAF1 Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for BCLAF1 Gene
Disorders for BCLAF1 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| epidermolysis bullosa simplex with nail dystrophy |
|
|
| emery-dreifuss muscular dystrophy |
|
|
| uterine adnexa cancer |
|
|
| wilms tumor 1 |
|
|
| muscular dystrophy |
|
|
Search BCLAF1 in MalaCards
View complete list of genes associated with diseases
Additional Disease Information for BCLAF1
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
No data available for UniProtKB/Swiss-Prot and Genatlas for BCLAF1 Gene
Publications for BCLAF1 Gene
- Btf, a novel death-promoting transcriptional repressor that interacts with Bcl-2-related proteins. (PMID: 10330179) Kasof GM … White E (Molecular and cellular biology 1999) 2 3 4
- Prediction of the coding sequences of unidentified human genes. V. The coding sequences of 40 new genes (KIAA0161-KIAA0200) deduced by analysis of cDNA clones from human cell line KG-1. (PMID: 8724849) Nagase T … Nomura N (DNA research : an international journal for rapid publication of reports on genes and genomes 1996) 2 3 4
- Identification of Wilms' tumor 1-associating protein complex and its role in alternative splicing and the cell cycle. (PMID: 24100041) Horiuchi K … Hamakubo T (The Journal of biological chemistry 2013) 3 4
- Germline variation in apoptosis pathway genes and risk of non-Hodgkin's lymphoma. (PMID: 20855536) Kelly JL … Cerhan JR (Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology 2010) 3 41
- Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PMID: 17081983) Olsen JV … Mann M (Cell 2006) 3 4
ExternalLinks
Products for BCLAF1 Gene
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Sources for BCLAF1 Gene
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