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-depen... See more...

Aliases for BAK1 Gene

Aliases for BAK1 Gene

  • BCL2 Antagonist/Killer 1 2 3 5
  • BCL2L7 2 3 4
  • BAK 2 3 4
  • Bcl-2 Homologous Antagonist/Killer 3 4
  • Apoptosis Regulator BAK 3 4
  • Bcl-2-Like Protein 7 3 4
  • Bcl2-L-7 3 4
  • CDN1 3 4
  • Pro-Apoptotic Protein BAK 3
  • BCL2-Antagonist/Killer 1 2
  • BCL2-Like 7 Protein 3
  • BAK-LIKE 3
  • BAK1 5

External Ids for BAK1 Gene

Previous HGNC Symbols for BAK1 Gene

  • CDN1

Previous GeneCards Identifiers for BAK1 Gene

  • GC06M033542
  • GC06M033588
  • GC06M033489
  • GC06M033648
  • GC06M033281
  • GC06M033541

Summaries for BAK1 Gene

Entrez Gene Summary 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 Absolute Glaucoma and Keratoacanthoma. Among its related pathways are Apoptosis Modulation and Signaling and Transcriptional misregulation in 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 Summary 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.

Gene Wiki entry for BAK1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for BAK1 Gene

Genomics for BAK1 Gene

GeneHancer (GH) Regulatory Elements Pubs

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 the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for BAK1

Top Transcription factor binding sites by QIAGEN in the BAK1 gene promoter:
  • HSF1 (long)
  • HSF1short
  • p53
  • Pax-5
  • Sp1
  • STAT1
  • STAT1alpha
  • STAT1beta
  • STAT5B

Genomic Locations for BAK1 Gene

Genomic Locations for BAK1 Gene
chr6:33,572,547-33,580,296
(GRCh38/hg38)
Size:
7,750 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:
BAK1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for BAK1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene 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
    Secondary Accessions:
    • C0H5Y7
    • Q6I9T6
    • Q92533

    Protein attributes for BAK1 Gene

    Size:
    211 amino acids
    Molecular mass:
    23409 Da
    Quaternary structure:
    • Homodimer. Formation of the homodimer is zinc-dependent (PubMed:17157251). Forms heterodimers with BCL2 and BCL2L1 isoform Bcl-X(L) (PubMed:9020082). Forms heterooligomers with BAX (PubMed:29531808). Interacts with BCL2A1 (By similarity). Interacts with RTL10/BOP (PubMed:23055042). Interacts with VDAC1 (PubMed:25296756). Interacts with GIMAP3/IAN4 and GIMAP5/IAN5 (PubMed:16509771).
    • (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

    Alternative splice isoforms for BAK1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for BAK1 Gene

Post-translational modifications for BAK1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for BAK1 Gene

Antibody Products

  • Abcam antibodies 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

InterPro:
Blocks:
  • Apoptosis regulator Bcl-2 protein, BH
ProtoNet:

Suggested Antigen Peptide Sequences for BAK1 Gene

GenScript: Design optimal peptide antigens:
  • Bcl-2-like protein 7 (BAK_HUMAN)
  • Pro-apoptotic protein BAKM variant (Q8NFF3_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q16611

UniProtKB/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.
genes like me logo Genes that share domains with BAK1: view

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

Gene Ontology (GO) - Molecular Function 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 10950869
GO:0042803 protein homodimerization activity IBA,IDA 23028632
genes like me logo Genes that share ontologies with BAK1: view
genes like me logo Genes that share phenotypes with BAK1: view

Animal Models for BAK1 Gene

MGI Knock Outs for BAK1:
  • Bak1 Bak1<tm1Thsn>

Animal Model Products

  • Taconic Biosciences Mouse Models for BAK1

CRISPR Products

miRNA for BAK1 Gene

miRTarBase miRNAs that target BAK1

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products 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 outer membrane. Single-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for BAK1 gene
Compartment Confidence
mitochondrion 5
cytosol 4
endoplasmic reticulum 3
plasma membrane 2
extracellular 2
cytoskeleton 2
peroxisome 2
nucleus 2
lysosome 2
endosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for BAK1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005623 cell IEA --
GO:0005739 mitochondrion IDA 9843949
GO:0005741 mitochondrial outer membrane TAS --
GO:0005783 endoplasmic reticulum IEA --
GO:0005829 cytosol IEA --
genes like me logo Genes that share ontologies with BAK1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for BAK1 Gene

Pathways & Interactions for BAK1 Gene

genes like me logo Genes that share pathways with BAK1: view

Pathways by source for BAK1 Gene

1 GeneGo (Thomson Reuters) pathway for BAK1 Gene
  • Apoptosis and survival_Regulation of Apoptosis by Mitochondrial Proteins
2 R&D Systems pathways for BAK1 Gene
4 Qiagen pathways for BAK1 Gene
  • Apoptotic Pathways Triggered By HIV1
  • Cellular Apoptosis Pathway
  • Mitochondrial Apoptosis
  • Molecular Mechanisms of Cancer
1 Cell Signaling Technology pathway for BAK1 Gene
2 GeneTex pathways for BAK1 Gene

SIGNOR curated interactions for BAK1 Gene

Activates:
Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for BAK1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001776 leukocyte homeostasis IEA --
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 --
genes like me logo Genes that share ontologies with BAK1: view

Drugs & Compounds for BAK1 Gene

(34) Drugs for BAK1 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(19) Additional Compounds for BAK1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with BAK1: view

Transcripts for BAK1 Gene

mRNA/cDNA for BAK1 Gene

1 REFSEQ mRNAs :
17 NCBI additional mRNA sequence :
3 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for BAK1

Alternative Splicing Database (ASD) splice patterns (SP) for BAK1 Gene

No ASD Table

Relevant External Links for BAK1 Gene

GeneLoc Exon Structure for
BAK1

Expression for BAK1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for BAK1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for BAK1 Gene

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



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for BAK1

SOURCE GeneReport for Unigene cluster for BAK1 Gene:

Hs.485139

mRNA 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(4.5)
  • Nervous system(4.4)
  • Intestine(2.6)
  • Skin(2.6)
  • Blood(2.5)
  • Lymph node(2.3)
  • Bone marrow(2.3)
  • Heart(2.2)
  • Kidney(2.1)
  • Muscle(2.1)
  • Spleen(2.1)
  • Stomach(2.1)
genes like me logo Genes that share expression patterns with BAK1: view

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.

Orthologs for BAK1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia BAK1 30 31
  • 99.37 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia LOC481744 30
  • 89.73 (n)
BAK1 31
  • 77 (a)
OneToOne
Cow
(Bos Taurus)
Mammalia BAK1 30 31
  • 86.73 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Bak1 30 17 31
  • 80.22 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Bak1 30
  • 79.43 (n)
Oppossum
(Monodelphis domestica)
Mammalia BAK1 31
  • 76 (a)
OneToOne
Chicken
(Gallus gallus)
Aves BAK1 30
  • 69.08 (n)
Lizard
(Anolis carolinensis)
Reptilia BAK1 31
  • 62 (a)
OneToOne
Species where no ortholog for BAK1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 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)
  • 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

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

genes like me logo Genes that share paralogs with BAK1: view

Variants for BAK1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for BAK1 Gene

SNP ID Clinical significance and condition Chr 06 pos Variation AA Info Type
707918 Benign: not provided 33,575,916(-) G/A MISSENSE_VARIANT
rs1051911 - p.Arg42His
rs4987115 - p.Ala28Val
rs5745592 - p.Ser69Arg

Additional dbSNP identifiers (rs#s) for BAK1 Gene

Structural Variations from Database of Genomic Variants (DGV) for BAK1 Gene

Variant ID Type Subtype PubMed ID
esv3608630 CNV gain 21293372
nsv519079 CNV loss 19592680
nsv602833 CNV loss 21841781

Variation tolerance for BAK1 Gene

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

MalaCards: The human disease database

(26) MalaCards diseases for BAK1 Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
absolute glaucoma
  • blind hypertensive eye
keratoacanthoma
indolent b-cell non-hodgkin lymphoma
  • indolent b-cell nhl
benign mammary dysplasia
central pontine myelinolysis
  • osmotic demyelination syndrome
- elite association - COSMIC cancer census association via MalaCards
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
Open Targets Platform
genes like me logo Genes that share disorders with BAK1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for BAK1 Gene

Publications for BAK1 Gene

  1. Modulation of apoptosis by the widely distributed Bcl-2 homologue Bak. (PMID: 7715731) Kiefer MC … Barr PJ (Nature 1995) 2 3 4 23
  2. 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 23 41
  3. 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 23
  4. A conserved domain in Bak, distinct from BH1 and BH2, mediates cell death and protein binding functions. (PMID: 8521816) Chittenden T … Lutz RJ (The EMBO journal 1995) 3 4 23
  5. Induction of apoptosis by the Bcl-2 homologue Bak. (PMID: 7715730) Chittenden T … Guild BC (Nature 1995) 2 3 4

Products for BAK1 Gene

  • Addgene plasmids for BAK1
  • Signalway ELISA kits for BAK1
  • Signalway Proteins for BAK1

Sources for BAK1 Gene