BCL2A1 (Homo sapiens)
Description [+]
- Synonyms: BCL2A1, GRS, BFL1, BCL2L5, ACC-1, ACC-2, A1
- Species: Metazoa;Bilateria;Deuterostoma;Chordata;Vertebrata;Mammalia;Primates;Hominidae; Homo sapiens
- Short gene description: Bcl-2-related protein A1 (Protein BFL-1)(Hemopoietic-specific early response protein)(Protein GRS) [Source:UniProtKB/Swiss-Prot;Acc:Q16548]
- Family: Bcl-2 family : multidomain Bcl-2
- Process: apoptosis,
- Pathways: intrinsic pathway, pre-mitochondrial signaling events,
- Criteria: manually curated
- Curator comment:
- Mouse ortholog(s): Bcl2a1c Bcl2a1d Bcl2a1a Bcl2a1a
- WIKI: BCL2A1-H_sapiens
References [+]
- Bcl-2 family member Bfl-1/A1 sequesters truncated bid to inhibit is collaboration with pro-apoptotic Bak or Bax.
- Werner AB, de Vries E, Tait SW, Bontjer I, Borst J
- Following caspase-8 mediated cleavage, a carboxyl-terminal fragment of the BH3 domain-only Bcl-2 family member Bid transmits the apoptotic signal from death receptors to mitochondria. In a screen for possible regulators of Bid, we defined Bfl-1/A1 as a potent Bid interacting protein. Bfl-1 is an anti-apoptotic Bcl-2 family member, whose preferential expression in hematopoietic cells and endothelium is controlled by inflammatory stimuli. Its mechanism of action is unknown. We find that Bfl-1 associates with both full-length Bid and truncated (t)Bid, via the Bid BH3 domain. Cellular expression of Bfl-1 confers protection against CD95- and Trail receptor-induced cytochrome c release. In vitro assays, using purified mitochondria and recombinant proteins, demonstrate that Bfl-1 binds full-length Bid, but does not interfere with its processing by caspase-8, or with its mitochondrial association. Confocal microscopy supports that Bfl-1, which at least in part constitutively localizes to mitochondria, does not impede tBid translocation. However, Bfl-1 remains tightly and selectively bound to tBid and blocks collaboration between tBid and Bax or Bak in the plane of the mitochondrial membrane, thereby preventing mitochondrial apoptotic activation. Lack of demonstrable interaction between Bfl-1 and Bak or Bax in the mitochondrial membrane suggests that Bfl-1 generally prevents the formation of a pro-apoptotic complex by sequestering BH3 domain-only proteins. J Biol Chem. 2002 Jun 21;277(25):22781-8. Epub 2002 Apr 19.
- References from Mouse ortholog(s):
- Characterization of A1, a novel hemopoietic-specific early-response gene with sequence similarity to bcl-2.
- Lin EY, Orlofsky A, Berger MS, Prystowsky MB
- Granulocyte-macrophage colony-stimulating factor (GM-CSF) stimulates hemopoietic cell proliferation, differentiation, and functional activation by inducing the expression of specific genes. As part of an investigation of the regulation of gene expression by GM-CSF, we have previously identified a novel murine GM-CSF-inducible gene, A1. In this report, we present the complete nucleotide sequence of the A1 mRNA as well as a portion of the 5' flanking region, and describe the expression pattern of the gene. The results demonstrate that A1 is a hemopoietic tissue-specific gene that is expressed in several hemopoietic cell lineages, including T-helper lymphocytes, macrophages, and neutrophils. In murine bone marrow-derived macrophages, A1 gene expression is rapidly and transiently induced by GM-CSF, and the induction was independent of de novo protein synthesis. In addition to GM-CSF, a transient induction of A1 mRNA accumulation was observed in response to LPS in macrophages. This induction is not mediated by IL-1 alpha or IL-6, neither of which stimulate A1. In the myeloid precursor cell line, 32D cl3, A1 gene expression is stably induced during granulocyte colony-stimulating factor-stimulated myeloid cell differentiation. The A1 message encodes a predicted polypeptide with an M(r) of 20,024 and no signal peptide. The peptide sequence contains a region of 80 amino acids that shows similarity to bcl-2 and to the recently described bcl-2-related gene, MCL1. These data demonstrate that A1 is a novel early-response gene whose expression is associated with a variety of stimuli and occurs in several hemopoietic cell types. J Immunol. 1993 Aug 15;151(4):1979-88.
Structure & Sequence [+]
Pfam domains:
(Pfam is a large collection of protein families.)
| Source | Domain Name | Start | End |
|---|---|---|---|
| PFAM A | Bcl-2 | 37 | 140 |
Protein sequence [+]
BCL2A1 | Homo sapiens | 9606 | length:175
MTDCEFGYIYRLAQDYLQCVLQIPQPGSGPSKTSRVLQNVAFSVQKEVEKNLKSCLDNVN
VVSVDTARTLFNQVMEKEFEDGIINWGRIVTIFAFEGILIKKLLRQQIAPDVDTYKEISY
FVAEFIMNNTGEWIRQNGGWENGFVKKFEPKSGWMTFLEVTGKICEMLSLLKQYC
VVSVDTARTLFNQVMEKEFEDGIINWGRIVTIFAFEGILIKKLLRQQIAPDVDTYKEISY
FVAEFIMNNTGEWIRQNGGWENGFVKKFEPKSGWMTFLEVTGKICEMLSLLKQYC
Structure links:
- Smartdomain prediction information: SM00337
- Prosite motif and domain information: PS01080
- Prosite motif and domain information: PS01258
- Profile motif and domain profile information: PS50062
- Interpro domain information: Q16548
- PFAM domain and domain family information: Q16548
- Protein 3D structures from PDB: 2VM6
Evolution [+]
View protein alignment and tree with Jalview:
Explore tree at phylomeDB: Click here.
Homologs list [+]
| Name | Relationship | Species |
|---|---|---|
| NP_990197.1 | orthology | Chicken |
| BCL2A1 | orthology | Chimpanzee |
| B2LA1_BOVIN | orthology | Cow |
| BCL2A1 | orthology | Dog |
| BCL2A1 | orthology | Gorilla |
| BCL2A1 | orthology | Horse |
| BCL2A1 | orthology | Lyzard |
| BCL2A1 | orthology | Macaca |
| BCL2A1 | orthology | Monodelphis |
| Bcl2a1c | orthology | Mouse |
| Bcl2a1d | orthology | Mouse |
| Bcl2a1a | orthology | Mouse |
| Bcl2a1a | orthology | Mouse |
| BCL2A1 | orthology | Orangutan |
| BCL2A1 | orthology | Ornithorhynchus |
| BCL2A1 | orthology | Rabbit |
| Bcl2a1 | orthology | Rat |
| BCL2A1 | orthology | Zebra finch |
| BCLX_CHICK | paralogy | Chicken |
| BCL2_CHICK | paralogy | Chicken |
| NP_001026091.1 | paralogy | Chicken |
| BCL2 | paralogy | Chimpanzee |
| BAX | paralogy | Chimpanzee |
| BCL2L1 | paralogy | Chimpanzee |
| MCL1 | paralogy | Chimpanzee |
| BCL2L2 | paralogy | Chimpanzee |
| C_intestinalis_ENSCINP00000024813 | paralogy | Ciona |
| NP_001071386.1 | paralogy | Cow |
| NP_001070954.1 | paralogy | Cow |
| BAX_BOVIN | paralogy | Cow |
| NP_001092676.1 | paralogy | Cow |
| Q462R3_BOVIN | paralogy | Cow |
| BCLW_BOVIN | paralogy | Cow |
| IPI00908204.1 | paralogy | Cow |
| BCL2 | paralogy | Dog |
| NP_001003072.1 | paralogy | Dog |
| MCL1_CANFA | paralogy | Dog |
| MCL1 | paralogy | Fugu |
| BCL2 | paralogy | Fugu |
| BCL2L1 (1 of 6) | paralogy | Fugu |
| GNB5 (2 of 2) | paralogy | Fugu |
| BCL2L1 (2 of 6) | paralogy | Fugu |
| BAX | paralogy | Fugu |
| BCL2L1 (1 of 2) | paralogy | Gasterosteus |
| BCL2L1 (2 of 2) | paralogy | Gasterosteus |
| BCL2 | paralogy | Gasterosteus |
| BAX | paralogy | Gasterosteus |
| G_aculeatus_ENSGACP00000021797 | paralogy | Gasterosteus |
| BCL2 | paralogy | Gorilla |
| BCL2L2 | paralogy | Gorilla |
| BAX | paralogy | Gorilla |
| MCL1 | paralogy | Gorilla |
| BCL2L2 | paralogy | Horse |
| BCL2L1 | paralogy | Horse |
| MCL1 | paralogy | Horse |
| BCL2 | paralogy | Horse |
| BAK1 | paralogy | Horse |
| BCL2L2 | paralogy | Human |
| BAX | paralogy | Human |
| MCL1 | paralogy | Human |
| BCL2L1 | paralogy | Human |
| BCL2 | paralogy | Human |
| A_carolinensis_ENSACAP00000004550 | paralogy | Lyzard |
| MCL1 | paralogy | Lyzard |
| BCL2L1 | paralogy | Lyzard |
| BAX | paralogy | Lyzard |
| BCL2 | paralogy | Lyzard |
| BAX | paralogy | Macaca |
| BCL2L1 | paralogy | Macaca |
| BCL2 | paralogy | Macaca |
| MCL1 | paralogy | Macaca |
| BCL2L2 | paralogy | Macaca |
| BAX | paralogy | Medaka |
| O_latipes_ENSORLP00000015978 | paralogy | Medaka |
| BCL2L1 | paralogy | Medaka |
| BCL2 | paralogy | Medaka |
| BCL2L1 | paralogy | Monodelphis |
| M_domestica_ENSMODP00000005598 | paralogy | Monodelphis |
| BCL2 | paralogy | Monodelphis |
| BAX | paralogy | Monodelphis |
| MCL1 | paralogy | Monodelphis |
| Bcl2l2 | paralogy | Mouse |
| Bax | paralogy | Mouse |
| Mcl1 | paralogy | Mouse |
| Bcl2l1 | paralogy | Mouse |
| Bcl2 | paralogy | Mouse |
| MCL1 | paralogy | Orangutan |
| BCL2 | paralogy | Orangutan |
| BCL2L1 | paralogy | Orangutan |
| BAK1 | paralogy | Rabbit |
| Q9MYW4_RABIT | paralogy | Rabbit |
| BAX | paralogy | Rabbit |
| MCL1 | paralogy | Rabbit |
| Bcl2 | paralogy | Rat |
| Bax | paralogy | Rat |
| BCLX_RAT | paralogy | Rat |
| R_norvegicus_ENSRNOP00000052069 | paralogy | Rat |
| T_nigroviridis_ENSTNIP00000002209 | paralogy | Tetraodon |
| BCL2 | paralogy | Tetraodon |
| BCL2L1 (1 of 3) | paralogy | Tetraodon |
| BCL2L1 (2 of 3) | paralogy | Tetraodon |
| MCL1 | paralogy | Xenopus |
| bcl2l2 | paralogy | Xenopus |
| bax | paralogy | Xenopus |
| BCL2 | paralogy | Xenopus |
| BCL2 | paralogy | Zebra finch |
| BCL2L1 | paralogy | Zebra finch |
| BAX | paralogy | Zebra finch |
| bcl2l | paralogy | Zebrafish |
| bcl2 | paralogy | Zebrafish |
| mcl1b | paralogy | Zebrafish |
| baxa | paralogy | Zebrafish |
| D_rerio_ENSDARP00000037180 | paralogy | Zebrafish |
| BAXB | paralogy | Zebrafish |
| zgc:153993 | paralogy | Zebrafish |
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Gene Ontology [+]
| GO id | Name | Ontology type | Evidence |
|---|---|---|---|
| GO:0042981 | regulation of apoptosis | biological_proccess | IEA |
| GO:0006916 | anti-apoptosis | biological_proccess | TAS |
| GO:0005515 | protein binding | mollecular_function | IPI |
| GO:0005737 | cytoplasm | cell_component | IEA |
Check GO Evidence Codes here
Curated Isoforms [+]
| Transcript | Translation |
|---|---|
| OTTHUMT00000291372 * | OTTHUMP00000185566 * |
| OTTHUMT00000291373 | OTTHUMP00000185567 |
Info from The Vertebrate Genome Annotation (VEGA) database.
(*) Canonical transcript and translation forms.
Information from other databases [+]
- Gene info from HGNC [?] :991
- Gene related info from GeneCards [?] : BCL2A1
- Ensembl genome browser [?] : ENSG00000140379
- Expression info from Arrayexpress [?] : ENSG00000140379
- Protein expression from Protein Atlas: [?] ENSG00000140379
- Community gene edition from Wikigenes: [?] 597
- OMIM gene information: 601056
- OMIM disease information:
- entrezgene: 597
- refseq_dna: NM_001114735
- refseq_dna: NM_004049
- refseq_peptide: NP_001108207
- refseq_peptide: NP_004040
Click on [?] for more information.
