BCL2A1

Gene Information
 
Gene Symbol
BCL2A1
 
Aliases
ACC-1, ACC-2, ACC1, ACC2, BCL2L5, BFL1, GRS, HBPA1
 
Entrez Gene ID
597
 
Gene Name
BCL2 related protein A1
 
Chromosomal Location
15q25.1
 
HGNC ID
 
Summary
This gene encodes a member of the BCL-2 protein family. The proteins of this family form hetero- or homodimers and act as anti- and pro-apoptotic regulators that are involved in a wide variety of cellular activities such as embryonic development, homeostasis and tumorigenesis. The protein encoded by this gene is able to reduce the release of pro-apoptotic cytochrome c from mitochondria and block caspase activation. This gene is a direct transcription target of NF-kappa B in response to inflammatory mediators, and is up-regulated by different extracellular signals, such as granulocyte-macrophage colony-stimulating factor (GM-CSF), CD40, phorbol ester and inflammatory cytokine TNF and IL-1, which suggests a cytoprotective function that is essential for lymphocyte activation as well as cell survival. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
 
RefSeq DNA
 
RefSeq mRNA
  e!Ensembl
Gene
Transcript  
Protein

Gene Ontology (GO)

GO ID Ontology Function Evidence Reference
GO:0008630 Biological process Intrinsic apoptotic signaling pathway in response to DNA damage IBA 21873635
GO:0043066 Biological process Negative regulation of apoptotic process IBA 21873635
GO:0097192 Biological process Extrinsic apoptotic signaling pathway in absence of ligand IBA 21873635
GO:2001243 Biological process Negative regulation of intrinsic apoptotic signaling pathway IBA 21873635
GO:0005741 Cellular component Mitochondrial outer membrane IBA 21873635
Protein Information
 
Protein Name
Bcl-2-related protein A1, bcl-2-like protein 5, bcl2-L-5, hematopoietic BCL2-related protein A1, hemopoietic-specific early response protein, protein BFL-1
 
Function
Retards apoptosis induced by IL-3 deprivation. May function in the response of hemopoietic cells to external signals and in maintaining endothelial survival during infection (By similarity). Can inhibit apoptosis induced by serum starvation in the mammary epithelial cell line HC11 (By similarity).
 
Refseq Proteins
 
UniProt
 
PDB
 
Pfam
Pfam Accession Pfam ID
PF00452 Bcl-2
Pathways
 
KEGG
 
 

NF-kappa B signaling pathway
Apoptosis
Transcriptional misregulation in cancer
Acute myeloid leukemia

  

     

Associated Diseases

Disease groupDisease NameReferences
Endocrine System Diseases
PCOS
Immune System Diseases
Rheumatoid Arthritis
Neoplasms
Breast Cancer
Esophagus Neoplasm
References
 

Differential insulin and steroidogenic signaling in insulin resistant and non-insulin resistant human luteinized granulosa cells-A study in PCOS patients.

Belani Muskaan, Deo Abhilash, Shah Preeti, Banker Manish, Singal Pawan, Gupta Sarita
Department of Biochemistry, Faculty of Science, The M. S. University of Baroda, Vadodara, 390 002, Gujarat, India.| Department of Biochemistry, Faculty of Science, The M. S. University of Baroda, Vadodara, 390 002, Gujarat, India.| Nova IVI Fertility, Behind Xavier's Ladies Hostel, 108, Swastik Society Rd, Navrangpura, Ahmedabad, 390009, Gujarat, India.| Nova IVI Fertility, Behind Xavier's Ladies Hostel, 108, Swastik Society Rd, Navrangpura, Ahmedabad, 390009, Gujarat, India.| Institute of Cardiovascular Sciences, St. Boniface Hospital Albrechtsen Research Centre, Department of Physiology and Pathophysiology, Winnipeg MB, Canada.| Department of Biochemistry, Faculty of Science, The M. S. University of Baroda, Vadodara, 390 002, Gujarat, India. Electronic address: sglmescrl@gmail.com.
J Steroid Biochem Mol Biol. 2018 Apr;178:283-292. doi:
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