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Gene Gene information from NCBI Gene database.
Entrez ID 578
Gene name BCL2 antagonist/killer 1
Gene symbol BAK1
Synonyms (NCBI Gene)
BAKBAK-LIKEBCL2L7CDN1
Chromosome 6
Chromosome location 6p21.31
Summary 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 mito
miRNA miRNA information provided by mirtarbase database.
501 Show/Hide all (501)
miRTarBase ID miRNA Experiments Reference
MIRT005350 hsa-miR-125a-5p FlowLuciferase reporter assayqRT-PCRWestern blot 20616003
MIRT002394 hsa-miR-125b-5p Luciferase reporter assayqRT-PCRWestern blot 18056640
MIRT002394 hsa-miR-125b-5p Luciferase reporter assayqRT-PCRWestern blot 21823019
MIRT002394 hsa-miR-125b-5p Luciferase reporter assayqRT-PCRWestern blot 21823019
MIRT002394 hsa-miR-125b-5p Luciferase reporter assayqRT-PCRWestern blot 21823019
Transcription factors Transcription factors information provided by TRRUST V2 database.
1
Transcription factor Regulation Reference
WWTR1 Activation 22470139
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
111 Show/Hide all (111)
GO ID Ontology Definition Evidence Reference
GO:0001776 Process Leukocyte homeostasis IEA
GO:0001782 Process B cell homeostasis IEA
GO:0001783 Process B cell apoptotic process IEA
GO:0001836 Process Release of cytochrome c from mitochondria IBA
GO:0001836 Process Release of cytochrome c from mitochondria IDA 9843949, 16199525
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
600516 949 ENSG00000030110
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q16611
Protein name Bcl-2 homologous antagonist/killer (Apoptosis regulator BAK) (Bcl-2-like protein 7) (Bcl2-L-7)
Protein function Plays a role in the mitochondrial apoptotic 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 cytos
PDB 1BXL , 2IMS , 2IMT , 2JBY , 2JCN , 2LP8 , 2M5B , 2XPX , 2YV6 , 3I1H , 3QBR , 4D2L , 4U2U , 4U2V , 4UF1 , 5AJK , 5FMI , 5FMK , 5VWV , 5VWW , 5VWX , 5VWY , 5VWZ , 5VX0 , 5VX1 , 6ODH , 6UXM , 6UXN , 6UXO , 6UXP , 6UXQ , 6UXR , 7K02 , 7LK4 , 7M5A , 7M5B , 7OFM , 7OFO , 8CZF , 8CZG , 8CZH , 8GSV , 8IGC , 8IVB , 8SRX , 8SRY , 8UKY , 8Y1Y , 8Y1Z
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00452 Bcl-2 78 → 177 Apoptosis regulator proteins, Bcl-2 family Family
Tissue specificity TISSUE SPECIFICITY: Expressed in a wide variety of tissues, with highest levels in the heart and skeletal muscle.
Sequence
MASGQGPGPPRQECGEPALPSASEEQVAQDTEEVFRSYVFYRHQQEQEAEGVAAPADPEM
VTLPLQPSSTMGQVGRQLAIIGDDINRRYDSEFQTMLQHLQPTAENAYEYFTKIATSLFE
SGINWGRVVALLGFGYRLALHVYQHGLTGFLGQVTRFVVDFMLHHCIARWIAQRGGW
VAA
LNLGNGPILNVLVVLGVVLLGQFVVRRFFKS
Sequence length 211
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
KEGG Pathway Reactome Pathway
Platinum drug resistance Activation and oligomerization of BAK protein
Protein processing in endoplasmic reticulum Release of apoptotic factors from the mitochondria
Apoptosis  
Apoptosis - multiple species  
Pathways of neurodegeneration - multiple diseases  
Pathogenic Escherichia coli infection  
Salmonella infection  
Hepatitis C  
Measles  
Human cytomegalovirus infection  
Influenza A  
Human papillomavirus infection  
Kaposi sarcoma-associated herpesvirus infection  
Herpes simplex virus 1 infection  
Epstein-Barr virus infection  
Human immunodeficiency virus 1 infection  
Pathways in cancer  
Transcriptional misregulation in cancer  
Viral carcinogenesis  
MicroRNAs in cancer  
Colorectal cancer  
Pancreatic cancer  
Endometrial cancer  
Glioma  
Thyroid cancer  
Basal cell carcinoma  
Melanoma  
Chronic myeloid leukemia  
Small cell lung cancer  
Non-small cell lung cancer  
Breast cancer  
Hepatocellular carcinoma  
Gastric cancer  
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
23
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Show/Hide Unknown Diseases (23)
Phenotype Name Clinical Significance Source Reference Evidence Score
ATAXIA TELANGIECTASIA — Disgenet —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER — GWAS catalog 28540026
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
B-CELL ACUTE LYMPHOBLASTIC LEUKEMIA — GWAS catalog 38616254
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER — GWAS catalog 32606422, 34159505
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CHAGAS CARDIOMYOPATHY — GWAS catalog 24324551
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Show/Hide Text Mining Associations (138)
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acute lymphocytic leukemia Lymphocytic Leukemia BEFREE 31767839
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma BEFREE 12767516
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenoma Adenoma BEFREE 8625322
★★★★★
★☆☆☆☆
Found in Text Mining only
Adult T-Cell Lymphoma/Leukemia T-Cell Lymphoma/Leukemia BEFREE 11042529
★★★★★
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Alzheimer disease Pubtator 17712163 Stimulate
★★★★★
★☆☆☆☆
Found in Text Mining only
Anemia Refractory Refractory anemia Pubtator 12111784 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Aortic Aneurysm, Abdominal Aortic Aneurysm BEFREE 19514060, 19935899
★★★★★
★☆☆☆☆
Found in Text Mining only
Arthritis Rheumatoid Rheumatoid arthritis Pubtator 27898717 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Autoimmune Diseases Autoimmune Diseases BEFREE 19282307, 29915899
★★★★★
★☆☆☆☆
Found in Text Mining only
Autoimmune Diseases Autoimmune disease Pubtator 9647638 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only