Aliases for BAK1 Gene
Aliases for BAK1 Gene
External Ids for BAK1 Gene
- HGNC: 949
- Entrez Gene: 578
- Ensembl: ENSG00000030110
- OMIM: 600516
- UniProtKB: Q16611
Previous HGNC Symbols for BAK1 Gene
- CDN1
Previous GeneCards Identifiers for BAK1 Gene
- GC06M033542
- GC06M033588
- GC06M033489
- GC06M033648
- GC06M033281
- GC06M033541
Summaries for BAK1 Gene
-
The protein encoded by this gene belongs to the BCL2 protein family. BCL2 family members form oligomers or heterodimers and act as anti- or pro-apoptotic regulators that are involved in a wide variety of cellular activities. This protein localizes to mitochondria, and functions to induce apoptosis. It interacts with and accelerates the opening of the mitochondrial voltage-dependent anion channel, which leads to a loss in membrane potential and the release of cytochrome c. This protein also interacts with the tumor suppressor P53 after exposure to cell stress. [provided by RefSeq, Jul 2008]
GeneCards Summary for BAK1 Gene
BAK1 (BCL2 Antagonist/Killer 1) is a Protein Coding gene. Diseases associated with BAK1 include Benign Mammary Dysplasia and Deafness, Autosomal Recessive 66. Among its related pathways are Integrated Breast Cancer Pathway and Endometrial cancer. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and protein heterodimerization activity. An important paralog of this gene is BCL2.
UniProtKB/Swiss-Prot for BAK1 Gene
-
Plays a role in the mitochondrial apoptosic process. Upon arrival of cell death signals, promotes mitochondrial outer membrane (MOM) permeabilization by oligomerizing to form pores within the MOM. This releases apoptogenic factors into the cytosol, including cytochrome c, promoting the activation of caspase 9 which in turn processes and activates the effector caspases.
Additional gene information for BAK1 Gene
- Monarch Initiative
- Search for BAK1 at DataMed
- Search for BAK1 at HumanCyc
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for BAK1 Gene
Genomics for BAK1 Gene
GeneHancer (GH) Regulatory Elements for BAK1 Gene
Promoters and enhancers for BAK1 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 BAK1 on UCSC Golden Path with GeneCards custom track
- Top Transcription factor binding sites by QIAGEN in the BAK1 gene promoter:
-
- STAT1beta
- STAT1alpha
- STAT1
- Sp1
- HSF1 (long)
- HSF1short
- p53
- Pax-5
- STAT5B
Regulatory Element Products
Genomic Locations for BAK1 Gene
Genomic Locations for BAK1 Gene
- chr6:33,572,546-33,580,299
- (GRCh38/hg38)
- Size:
- 7,754 bases
- Orientation:
- Minus strand
- chr6:33,540,323-33,548,070
- (GRCh37/hg19)
- Size:
- 7,748 bases
- Orientation:
- Minus strand
Genomic View for BAK1 Gene
Genes around BAK1 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 6p21.31 by Entrez Gene
- 6p21.31 by HGNC
- 6p21.31 by Ensembl
BAK1 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 BAK1 Gene
Proteins for BAK1 Gene
-
Protein details for BAK1 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q16611-BAK_HUMAN
- Recommended name:
- Bcl-2 homologous antagonist/killer
- Protein Accession:
- Q16611
- C0H5Y7
- Q6I9T6
- Q92533
Protein attributes for BAK1 Gene
- Size:
- 211 amino acids
- Molecular mass:
- 23409 Da
- Quaternary structure:
-
- Interacts with BCL2A1 (By similarity). Homodimer. Formation of the homodimer is zinc-dependent. Forms heterodimers with BCL2 and BCL2L1 isoform Bcl-X(L). Interacts with RTL10/BOP. Interacts with VDAC1 (PubMed:25296756).
- (Microbial infection) Interacts with vaccinia virus protein F1.
- (Microbial infection) Interacts with myxoma virus protein M11L.
- (Microbial infection) Interacts with Epstein-Barr virus protein BALF1.
- (Microbial infection) Interacts with adenovirus protein E1B 19K.
Three dimensional structures from OCA and Proteopedia for BAK1 Gene
Protein Expression for BAK1 Gene
Post-translational modifications for BAK1 Gene
Other Protein References for BAK1 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- R&D Systems Antibodies for BAK1 (BAK)
-
Custom Antibody ServicesOriGene Antibodies for BAK1
- Novus Biologicals Antibodies for BAK1
-
Abcam antibodies for BAK1
- Invitrogen Antibodies for BAK1 (AFLGC-BAK1)
- antibodies-online: Search results for 190 available BAK1 Antibodies ranked by validation data
- Compare Top BAK1 Antibodies
-
Recommended
- 156 WB Antibodies (anti-human)
- 12 IF (p) Antibodies (anti-human)
- 4 IHC (p) Antibodies (anti-human)
- 2 IHC Antibodies (anti-human)
- 1 FACS Antibody (anti-human)
- 68 WB Antibodies (anti-mouse)
- 12 IF (p) Antibodies (anti-mouse)
- 3 IHC (p) Antibodies (anti-mouse)
- 1 FACS Antibody (anti-mouse)
- 1 IHC Antibody (anti-mouse)
- 24 WB Antibodies (anti-rat)
- 12 IF (p) Antibodies (anti-rat)
- GeneTex BAK1 Antibody for BAK1
-
Custom Antibody ServicesProSci Antibodies for BAK1
-
Santa Cruz Biotechnology (SCBT) Antibodies for BAK1
Protein Products
- R&D Systems Proteins and Enzymes for BAK1 (BAK)
-
OriGene Purified Proteins for BAK1
- Search Origene for MassSpec and Protein Over-expression Lysates for BAK1
- Origene Custom Protein Services for BAK1
- Search GeneTex for Proteins for BAK1
-
Abcam proteins for BAK1
No data available for DME Specific Peptides for BAK1 Gene
Domains & Families for BAK1 Gene
Gene Families for BAK1 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Predicted membrane proteins
- Transporters
Protein Domains for BAK1 Gene
- Blocks:
- InterPro:
- ProtoNet:
Suggested Antigen Peptide Sequences for BAK1 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
Q16611UniProtKB/Swiss-Prot:
BAK_HUMAN :- Intact BH3 motif is required by BIK, BID, BAK, BAD and BAX for their pro-apoptotic activity and for their interaction with anti-apoptotic members of the Bcl-2 family.
- Belongs to the Bcl-2 family.
- Domain:
-
- Intact BH3 motif is required by BIK, BID, BAK, BAD and BAX for their pro-apoptotic activity and for their interaction with anti-apoptotic members of the Bcl-2 family.
- Family:
-
- Belongs to the Bcl-2 family.
Function for BAK1 Gene
Molecular function for BAK1 Gene
- UniProtKB/Swiss-Prot Function:
- Plays a role in the mitochondrial apoptosic process. Upon arrival of cell death signals, promotes mitochondrial outer membrane (MOM) permeabilization by oligomerizing to form pores within the MOM. This releases apoptogenic factors into the cytosol, including cytochrome c, promoting the activation of caspase 9 which in turn processes and activates the effector caspases.
- GENATLAS Biochemistry:
- BCL2-antagonist/killer 1,BAX subfamily
Phenotypes From GWAS Catalog for BAK1 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0003674 | molecular_function | ND | -- |
| GO:0005515 | protein binding | IPI | 9027312 |
| GO:0031072 | heat shock protein binding | IEA | -- |
| GO:0042802 | identical protein binding | IPI | 15901672 |
| GO:0042803 | protein homodimerization activity | IDA,IBA | 23028632 |
Phenotypes for BAK1 Gene
- MGI mutant phenotypes for BAK1:
-
inferred from 1 alleles
- limbs/digits/tail phenotype
- homeostasis/metabolism phenotype
- nervous system phenotype
- behavior/neurological phenotype
- neoplasm
- endocrine/exocrine gland phenotype
- mortality/aging
- cellular phenotype
- reproductive system phenotype
- skeleton phenotype
- normal phenotype
- hearing/vestibular/ear phenotype
- renal/urinary system phenotype
- hematopoietic system phenotype
- immune system phenotype
- GenomeRNAi human phenotypes for BAK1:
-
- Increased HPV18 LCR reporter activity
- Decreased viability
- no effect
- Mildly decreased CFP-tsO45G cell surface transport
- Decreased hepcidin::fluc mRNA expression
- Increased viability with SS1P at EC90
- Increased transferrin (TF) endocytosis
- Increased viability with MLN4924 (a NAE inhibitor)
- Synthetic lethal with MLN4924 (a NAE inhibitor)
Animal Models for BAK1 Gene
- MGI Knock Outs for BAK1:
-
- Bak1 Bak1<tm1Thsn>
Animal Model Products
-
Taconic Biosciences Mouse Models for BAK1
- Cyagen custom Knockout/knockin (KOKI) mouse models for BAK1
-
CRISPR Products
-
OriGene CRISPR knockouts for BAK1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for BAK1
- genomics-online: gRNA clones - Search results for 123 available BAK1 gene related products
- Overview of 123 available BAK1 gene related products
- Applied Biological Materials CRISPR for BAK1
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for BAK1
miRNA for BAK1 Gene
- miRTarBase miRNAs that target BAK1
-
- hsa-mir-125b-5p (MIRT002394)
- hsa-mir-125a-5p (MIRT005350)
- hsa-mir-375 (MIRT019714)
- hsa-mir-92a-3p (MIRT048976)
- hsa-mir-887-5p (MIRT494540)
- hsa-mir-4507 (MIRT494541)
- hsa-mir-3940-5p (MIRT494542)
- hsa-mir-6779-5p (MIRT494543)
- hsa-mir-6780a-5p (MIRT494544)
- hsa-mir-3689c (MIRT494545)
- hsa-mir-3689b-3p (MIRT494546)
- hsa-mir-3689a-3p (MIRT494547)
- hsa-mir-30b-3p (MIRT494548)
- hsa-mir-1273h-5p (MIRT494549)
- hsa-mir-6788-5p (MIRT494550)
- hsa-mir-30c-2-3p (MIRT494551)
- hsa-mir-30c-1-3p (MIRT494552)
- hsa-mir-3606-5p (MIRT494553)
- hsa-mir-4425 (MIRT494554)
- hsa-mir-1257 (MIRT494555)
- hsa-mir-142-3p (MIRT494556)
- hsa-mir-6073 (MIRT494557)
- hsa-mir-92a-1-5p (MIRT494558)
- hsa-mir-920 (MIRT494559)
- hsa-mir-5591-5p (MIRT494560)
- hsa-mir-6726-5p (MIRT494561)
- hsa-mir-4300 (MIRT494562)
- hsa-mir-6090 (MIRT494563)
- hsa-mir-6827-5p (MIRT494564)
- hsa-mir-4790-3p (MIRT494565)
- hsa-mir-6754-3p (MIRT494566)
- hsa-mir-412-3p (MIRT494567)
- hsa-mir-20b-3p (MIRT494568)
- hsa-mir-6765-3p (MIRT494569)
- hsa-mir-3622b-3p (MIRT494570)
- hsa-mir-3622a-3p (MIRT494571)
- hsa-mir-4506 (MIRT494572)
- hsa-mir-4680-5p (MIRT526685)
- hsa-mir-6787-3p (MIRT526686)
- hsa-mir-8073 (MIRT526687)
- hsa-mir-221-5p (MIRT526688)
- hsa-mir-7157-5p (MIRT526689)
- hsa-mir-4310 (MIRT526690)
- hsa-mir-1245b-3p (MIRT526691)
- hsa-mir-1272 (MIRT526692)
- hsa-mir-3145-5p (MIRT568298)
- hsa-mir-6734-5p (MIRT568299)
- hsa-mir-4710 (MIRT568300)
- hsa-mir-4450 (MIRT568301)
- hsa-mir-5194 (MIRT568302)
- hsa-mir-6738-5p (MIRT568303)
- hsa-mir-1914-3p (MIRT568304)
- hsa-mir-423-5p (MIRT568305)
- hsa-mir-3184-5p (MIRT568306)
- hsa-mir-32-5p (MIRT568307)
- hsa-mir-25-3p (MIRT568308)
- hsa-mir-363-3p (MIRT568309)
- hsa-mir-367-3p (MIRT568310)
- hsa-mir-92b-3p (MIRT568311)
- hsa-mir-34a-5p (MIRT733970)
- hsa-mir-1227-3p (MIRT736141)
- hsa-mir-331-3p (MIRT741336)
- hsa-mir-361-3p (MIRT741641)
- hsa-mir-3679-3p (MIRT742176)
- hsa-mir-378j (MIRT742776)
- hsa-mir-4308 (MIRT743932)
- hsa-mir-6757-3p (MIRT754834)
- hsa-mir-6839-5p (MIRT757301)
- hsa-mir-6889-3p (MIRT758624)
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for BAK1
- Browse OriGene Inhibitory RNA Products For BAK1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for BAK1
- genomics-online: shRNA clones - Search results for 123 available BAK1 gene related products
- Overview of 123 available BAK1 gene related products
Clone Products
- Sino Biological Human cDNA Clone for BAK1
- Addgene plasmids for BAK1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for BAK1
- Applied Biological Materials Clones for BAK1
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
-
Horizon Cell Lines for BAK1
No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for BAK1 Gene
Localization for BAK1 Gene
Subcellular locations from UniProtKB/Swiss-Prot for BAK1 Gene
- Mitochondrion membrane; Single-pass membrane protein.
| Compartment | Confidence |
|---|---|
| mitochondrion | 5 |
| cytosol | 4 |
| plasma membrane | 2 |
| endoplasmic reticulum | 2 |
| extracellular | 1 |
| peroxisome | 1 |
| nucleus | 1 |
| endosome | 1 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005622 | intracellular | IEA | -- |
| GO:0005739 | mitochondrion | IDA | 9843949 |
| GO:0005741 | mitochondrial outer membrane | TAS,IBA | -- |
| GO:0005783 | endoplasmic reticulum | IEA | -- |
| GO:0005829 | cytosol | IEA | -- |
No data available for Subcellular locations from the Human Protein Atlas (HPA) for BAK1 Gene
Pathways & Interactions for BAK1 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Endometrial cancer |
.36
|
|
| 2 | Apoptosis Modulation and Signaling |
.41
|
.31
|
| 3 | Nanomaterial induced apoptosis | ||
| 4 | Gastric cancer |
.62
.62
|
|
| 5 | Glioma |
.52
|
.47
|
Pathways by source for BAK1 Gene
2 GeneTex pathways for BAK1 Gene
9 BioSystems pathways for BAK1 Gene
4 Reactome pathways for BAK1 Gene
1 PharmGKB pathway for BAK1 Gene
23 KEGG pathways for BAK1 Gene
1 GeneGo (Thomson Reuters) pathway for BAK1 Gene
1 R&D Systems pathway for BAK1 Gene
4 Qiagen pathways for BAK1 Gene
1 Cell Signaling Technology pathway for BAK1 Gene
Interacting Proteins for BAK1 Gene
Selected Interacting proteins:
Q16611-BAK_HUMAN
ENSP00000353878
for BAK1 Gene via
UniProtKB
MINT
STRING
IID
GPS-Prot Interaction Network for BAK1
SIGNOR curated interactions for BAK1 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0001782 | B cell homeostasis | IEA | -- |
| GO:0001783 | B cell apoptotic process | IEA | -- |
| GO:0001836 | release of cytochrome c from mitochondria | IGI | 21041309 |
| GO:0001974 | blood vessel remodeling | IEA | -- |
| GO:0002262 | myeloid cell homeostasis | IEA | -- |
Transcripts for BAK1 Gene
mRNA/cDNA for BAK1 Gene
- (3) REFSEQ mRNAs :
- (9) Additional mRNA sequences :
- (231) Selected AceView cDNA sequences:
- (3) Ensembl transcripts including schematic representations, and UCSC links where relevant :
-
- ENST00000374467 2136 bps (uc003oes.4)
- ENST00000442998 2212 bps (uc063nyf.1)
- ENST00000360661 2132 bps (uc063nye.1)
Unigene Clusters for BAK1 Gene
CRISPR Products
-
OriGene CRISPR knockouts for BAK1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for BAK1
- genomics-online: gRNA clones - Search results for 123 available BAK1 gene related products
- Overview of 123 available BAK1 gene related products
- Applied Biological Materials CRISPR for BAK1
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for BAK1
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for BAK1
- Browse OriGene Inhibitory RNA Products For BAK1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for BAK1
- genomics-online: shRNA clones - Search results for 123 available BAK1 gene related products
- Overview of 123 available BAK1 gene related products
Clone Products
- Sino Biological Human cDNA Clone for BAK1
- Addgene plasmids for BAK1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for BAK1
- Applied Biological Materials Clones for BAK1
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Expression for BAK1 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Epidermis (Integumentary System)
- Corneocytes Stratified Epidermis
- Granular Keratinocytes Stratified Epidermis
- Spinous Keratinocytes Stratified Epidermis
-
Epithelial Cells
- Corneocytes Stratified Epidermis
- Granular Keratinocytes Stratified Epidermis
- Spinous Keratinocytes Stratified Epidermis
-
Heart (Cardiovascular System)
- Atrioventricular Canal Cells Atrioventricular Canal
- Intestine (Gastrointestinal Tract)
This gene is overexpressed in Nasal epithelium (45.1).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for BAK1 Gene
NURSA nuclear receptor signaling pathways regulating expression of BAK1 Gene:
BAK1SOURCE GeneReport for Unigene cluster for BAK1 Gene:
Hs.485139mRNA Expression by UniProt/SwissProt for BAK1 Gene:
Q16611-BAK_HUMAN
Tissue specificity:
Expressed in a wide variety of tissues, with highest levels in the heart and skeletal muscle.
Evidence on tissue expression from TISSUES for BAK1 Gene
- Lung(4.2)
- Nervous system(4.1)
Primer Products
-
OriGene qPCR primer pairs for BAK1
-
OriGene qPCR primer pairs and template standards for BAK1
Gene Expression Assay Products
No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for BAK1 Gene
Orthologs for BAK1 Gene
This gene was present in the common ancestor of chordates.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | BAK1 34 33 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | LOC481744 33 |
|
||
| BAK1 34 |
|
OneToOne | |||
| cow (Bos Taurus) |
Mammalia | BAK1 34 33 |
|
OneToOne | |
| mouse (Mus musculus) |
Mammalia | Bak1 16 34 33 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Bak1 33 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | BAK1 34 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | BAK1 33 |
|
||
| lizard (Anolis carolinensis) |
Reptilia | BAK1 34 |
|
OneToOne |
- Species where no ortholog for BAK1 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African clawed frog (Xenopus laevis)
- 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)
- platypus (Ornithorhynchus anatinus)
- rainbow trout (Oncorhynchus mykiss)
- rice (Oryza sativa)
- rice blast fungus (Magnaporthe grisea)
- schistosome parasite (Schistosoma mansoni)
- sea anemone (Nematostella vectensis)
- sea squirt (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)
- tropical clawed frog (Silurana tropicalis)
- wheat (Triticum aestivum)
- worm (Caenorhabditis elegans)
- zebrafish (Danio rerio)
Evolution for BAK1 Gene
- ENSEMBL:
- Gene Tree for BAK1 (if available)
- TreeFam:
- Gene Tree for BAK1 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for BAK1: view image
Paralogs for BAK1 Gene
(2) SIMAP similar genes for BAK1 Gene using alignment to 2 proteins:
- BAK_HUMAN
- C0H5Y7_HUMAN
Pseudogenes.org Pseudogenes for BAK1 Gene
Variants for BAK1 Gene
| SNP ID | Clin | Chr 06 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs1000219106 | -- | 33,576,888(-) | C/A | intron_variant | |
| rs1000239166 | -- | 33,579,599(-) | C/T | intron_variant | |
| rs1000317999 | -- | 33,579,881(-) | T/C | intron_variant | |
| rs1000541998 | -- | 33,579,483(-) | A/G | intron_variant | |
| rs1000760266 | -- | 33,573,200(-) | G/A | 3_prime_UTR_variant |
Residual Variation Intolerance Score:
65.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
1.48;
28.95% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for BAK1 Gene
- SNPedia medical, phenotypic, and genealogical associations of SNPs for
- BAK1
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for BAK1 Gene
Disorders for BAK1 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| benign mammary dysplasia |
|
|
| deafness, autosomal recessive 66 |
|
|
| chronic gonococcal salpingitis |
|
|
| colorectal cancer |
|
|
| testicular germ cell tumor |
|
|
Search BAK1 in MalaCards
View complete list of genes associated with diseases
Additional Disease Information for BAK1
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
No data available for UniProtKB/Swiss-Prot and Genatlas for BAK1 Gene
Publications for BAK1 Gene
- Modulation of apoptosis by the widely distributed Bcl-2 homologue Bak. (PMID: 7715731) Kiefer MC … Barr PJ (Nature 1995) 2 3 4 22 58
- BAK, BAX, and NBK/BIK proapoptotic gene alterations in Iranian patients with ataxia telangiectasia. (PMID: 19898928) Isaian A … Sanati MH (Journal of clinical immunology 2010) 3 22 44 58
- Interaction of F1L with the BH3 domain of Bak is responsible for inhibiting vaccinia-induced apoptosis. (PMID: 16439990) Postigo A … Way M (Cell death and differentiation 2006) 3 4 22 58
- Induction of apoptosis by the Bcl-2 homologue Bak. (PMID: 7715730) Chittenden T … Guild BC (Nature 1995) 2 3 4 58
- Plasminogen kringle 5 induces endothelial cell apoptosis by triggering a voltage-dependent anion channel 1 (VDAC1) positive feedback loop. (PMID: 25296756) Li L … Gao GQ (The Journal of biological chemistry 2014) 3 4 58
Products for BAK1 Gene
- R&D Systems Antibodies for BAK1 (BAK)
- R&D Systems Proteins and Enzymes for BAK1 (BAK)
- Browse R&D Systems for biochemical assays
- Browse Human Proteins and Enzymes
- Browse Primary Antibodies
- Browse Proteins and Enzymes
- Browse ELISAs
- Browse Activity Assays
- Browse cDNA Clones
- Browse Cell Culture Products
- Browse Cell Selection and Detection Kits
- Browse DNA Damage and Repair Kits
- Browse ELISpot/FluoroSpot Kits and Development Modules
- Browse Flow Cytometry Kits
- Browse Immunoprecipitation Assays
- Browse Luminex Assays
- Browse Peptides
- Browse Proteome Profiler Antibody Arrays
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- Custom Antibody ServicesOriGene Antibodies for BAK1
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- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For BAK1
- GenScript: Next-day shipping of latest version cDNA ORF clones for BAK1 in any vector
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- Sino Biological Human cDNA Clone for BAK1
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- Epitope Tag Antibodies & Reporter Protein Antibodies
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- Novus Biologicals Antibodies for BAK1
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- Novus Biologicals ELISA Kits for BAK1
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- Taconic Biosciences Mouse Models for BAK1
- Find your next knockout model in the Taconic Knockout Repository
- Genetically Engineered Models Available Immediately
- Humanized Mice
- Invitrogen Antibodies for BAK1 (AFLGC-BAK1)
- Cyagen custom Knockout/knockin (KOKI) mouse models for BAK1
- Addgene plasmids for BAK1
- antibodies-online: Search results for 190 available BAK1 Antibodies ranked by validation data
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- 156 WB Antibodies (anti-human)
- 12 IF (p) Antibodies (anti-human)
- 4 IHC (p) Antibodies (anti-human)
- 2 IHC Antibodies (anti-human)
- 1 FACS Antibody (anti-human)
- 68 WB Antibodies (anti-mouse)
- 12 IF (p) Antibodies (anti-mouse)
- 3 IHC (p) Antibodies (anti-mouse)
- 1 FACS Antibody (anti-mouse)
- 1 IHC Antibody (anti-mouse)
- 24 WB Antibodies (anti-rat)
- 12 IF (p) Antibodies (anti-rat)
- antibodies-online: Search results for 33 available BAK1 Elisa Kits ranked by validation data
- Compare Top BAK1 Elisa Kits
- antibodies-online: Search results for 4 available BAK1 Proteins ranked by validation data
- Compare Top BAK1 Proteins
- GeneTex BAK1 Antibody for BAK1
- Search GeneTex for Proteins for BAK1
- Santa Cruz Biotechnology (SCBT) Antibodies for BAK1
- Search Santa Cruz Biotechnology (SCBT) for BAK1 siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for BAK1
- Custom Antibody ServicesProSci Antibodies for BAK1
- Search for BAK1 Proteins at ProSci
- Horizon Cell Lines for BAK1
- genomics-online: cdna clones - Search results for 123 available BAK1 gene related products
- Overview of 123 available BAK1 gene related products
- orf clones - Search results for 123 available BAK1 gene related products
- Overview of 123 available BAK1 gene related products
- genomics-online: gRNA clones - Search results for 123 available BAK1 gene related products
- Overview of 123 available BAK1 gene related products
- genomics-online: primer clones - Search results for 123 available BAK1 gene related products
- Overview of 123 available BAK1 gene related products
- genomics-online: shRNA clones - Search results for 123 available BAK1 gene related products
- Overview of 123 available BAK1 gene related products
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for BAK1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for BAK1
- GeneCopoeia miRNA 3'UTR Target clone products for BAK1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for BAK1
Sources for BAK1 Gene
- (1) GeneCards
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- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
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- (14) ProtoNet
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- (24) DrugBank
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- (28) ASD
- (29) ECgene
- (30) GeneAnnot
- (31) CGAP SAGE
- (32) SOURCE
- (33) HomoloGene
- (34) PanEnsembl
- (35) euGenes
- (36) SGD
- (37) FlyBase
- (38) WormBase
- (39) Pseudogene
- (40) DGV
- (41) dbSNP
- (42) GenAtlas
- (43) HGMD
- (44) GAD
- (45) BGMUT
- (46) HuGE
- (47) Atlas
- (48) Cell Signaling Technology
- (49) GenBank
- (50) H-invDB
- (51) HORDE
- (52) HUGE
- (53) IMGT
- (54) Leiden
- (55) miRBase
- (56) DME
- (57) OriGene
- (58) PubMed
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- (60) TGDB
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- (62) Abcam
- (63) Novus Biologicals
- (64) ProSpec
- (65) Sino Biological
- (66) GenScript
- (67) Qiagen
- (68) Cloud-Clone Corp.
- (69) OCA
- (70) Proteopedia
- (71) MOPED
- (72) neXtProt
- (73) Reactome
- (74) GeneGo (Thomson Reuters)
- (75) fRNAdb
- (76) DISEASES
- (77) SIMAP
- (78) GenomeRNAi
- (79) LifeMap
- (80) miRTarBase
- (81) MalaCards
- (82) Invitrogen
- (83) BitterDB
- (84) Vector BioLabs
- (85) ESI-BIO
- (86) RefSeq
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- (90) BioGPS
- (91) Illumina
- (92) COMPARTMENTS
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- (94) PaxDb
- (95) ApexBio
- (96) Addgene
- (97) antibodies-online
- (98) CYP
- (99) NONCODE
- (100) SwitchGear Genomics
- (101) TreeFam
- (102) PathCards
- (103) GeneReviews
- (104) GeneTex
- (105) Taconic Biosciences
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