• Gene id: 597

Gene Summary

• Gene Symbol: BCL2A1   Gene   UCSC   Ensembl
• Aliases: ACC-1, ACC-2, ACC1, ACC2, BCL2L5, BFL1, GRS, HBPA1
• Gene name: BCL2 related protein A1
• Alternate names: 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,
• Gene location: 15q25.1 (79971195: 79960891)     Exons: 3     NC_000015.10
• Gene summary(Entrez): 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, homeosta

Protein Summary

• Protein general information: Q16548  
  • Name: Bcl 2 related protein A1 (Bcl 2 like protein 5) (Bcl2 L 5) (Hemopoietic specific early response protein) (Protein BFL 1) (Protein GRS)
  • Length: 175  
  • Mass: 20132
  • Tissue specificity: Seems to be restricted to the hematopoietic compartment. Expressed in peripheral blood, spleen, and bone marrow, at moderate levels in lung, small intestine and testis, at a minimal levels in other tissues. Also found in vascular smoot
• Sequence:

  MTDCEFGYIYRLAQDYLQCVLQIPQPGSGPSKTSRVLQNVAFSVQKEVEKNLKSCLDNVNVVSVDTARTLFNQVM
  EKEFEDGIINWGRIVTIFAFEGILIKKLLRQQIAPDVDTYKEISYFVAEFIMNNTGEWIRQNGGWENGFVKKFEP
  KSGWMTFLEVTGKICEMLSLLKQYC

• Structural information:
  • Interpro: IPR002475  IPR020717  IPR020726  IPR013282  IPR036834   IPR026298  
  • Prosite: PS50062 PS01080 PS01258
  • PDB: 2VM6 3I1H 3MQP 4ZEQ 5UUK 5UUL 5UUP 5WHH 5WHI 6E3I 6E3J 6MBB 6MBC 6RJP
  • PDBsum: 2VM6 3I1H 3MQP 4ZEQ 5UUK 5UUL 5UUP 5WHH 5WHI 6E3I 6E3J 6MBB 6MBC 6RJP
  • STRING: ENSP00000267953
• Other Databases: GeneCards:  BCL2A1  Malacards:  BCL2A1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005515	protein binding	IPI	molecular function
GO:0042803	protein homodimerization activity	IBA	molecular function
GO:0097192	extrinsic apoptotic signaling pathway in absence of ligand	IBA	biological process
GO:0046982	protein heterodimerization activity	IBA	molecular function
GO:0008630	intrinsic apoptotic signaling pathway in response to DNA damage	IBA	biological process
GO:0005741	mitochondrial outer membrane	IBA	cellular component
GO:0043066	negative regulation of apoptotic process	ISS	biological process
GO:0043066	negative regulation of apoptotic process	IEA	biological process
GO:0042981	regulation of apoptotic process	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0006915	apoptotic process	IEA	biological process
GO:0043066	negative regulation of apoptotic process	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0007568	aging	IEA	biological process
GO:0021987	cerebral cortex development	IEA	biological process
GO:0044877	protein-containing complex binding	IEA	molecular function
GO:0051400	BH domain binding	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa05202	Transcriptional misregulation in cancer
hsa04210	Apoptosis
hsa04064	NF-kappa B signaling pathway
hsa05221	Acute myeloid leukemia

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq