Human Gene BCL2A1 (ENST00000267953.4_7) from GENCODE V47lift37
  Description: BCL2 related protein A1, transcript variant 1 (from RefSeq NM_004049.4)
Gencode Transcript: ENST00000267953.4_7
Gencode Gene: ENSG00000140379.9_10
Transcript (Including UTRs)
   Position: hg19 chr15:80,253,234-80,263,538 Size: 10,305 Total Exon Count: 2 Strand: -
Coding Region
   Position: hg19 chr15:80,253,409-80,263,461 Size: 10,053 Coding Exon Count: 2 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr15:80,253,234-80,263,538)mRNA (may differ from genome)Protein (175 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedUniProtKB
WikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: B2LA1_HUMAN
DESCRIPTION: RecName: Full=Bcl-2-related protein A1; AltName: Full=Bcl-2-like protein 5; Short=Bcl2-L-5; AltName: Full=Hemopoietic-specific early response protein; AltName: Full=Protein BFL-1; AltName: Full=Protein GRS;
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).
SUBUNIT: Interacts directly with BAK1, BID, BMF and BBC3 (By similarity). Interacts directly with BCL2L11/BIM. Interacts with BAX isoform Sigma. Interacts directly with PMAIP1.
SUBCELLULAR LOCATION: Cytoplasm.
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 smooth muscle cells and hematopoietic malignancies.
INDUCTION: By phorbol ester and inflammatory cytokines, such as TNF or IL1B/interleukin-1 beta, but not by growth factors.
SIMILARITY: Belongs to the Bcl-2 family.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: BCL2A1
Diseases sorted by gene-association score: glucocorticoid resistance (13), robinow syndrome, autosomal recessive (7), botryoid rhabdomyosarcoma (5), gingival recession (5), robinow syndrome (5), peptic ulcer perforation (4), chronic lymphocytic leukemia (2)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 87.66 RPKM in Cells - EBV-transformed lymphocytes
Total median expression: 239.90 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -17.5077-0.227 Picture PostScript Text
3' UTR -22.40175-0.128 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR002475 - Bcl2-like
IPR020717 - Bcl2_BH1_motif_CS
IPR020726 - Bcl2_BH2_motif_CS
IPR013282 - Bcl2A1
IPR026298 - Blc2_fam

Pfam Domains:
PF00452 - Apoptosis regulator proteins, Bcl-2 family

SCOP Domains:
56854 - Bcl-2 inhibitors of programmed cell death

Protein Data Bank (PDB) 3-D Structure
MuPIT help
2VM6 - X-ray MuPIT 3I1H - X-ray MuPIT 3MQP - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on Q16548
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
 Gene Details    
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005515 protein binding
GO:0015267 channel activity
GO:0042803 protein homodimerization activity
GO:0046982 protein heterodimerization activity

Biological Process:
GO:0001836 release of cytochrome c from mitochondria
GO:0006915 apoptotic process
GO:0008053 mitochondrial fusion
GO:0008630 intrinsic apoptotic signaling pathway in response to DNA damage
GO:0042981 regulation of apoptotic process
GO:0043065 positive regulation of apoptotic process
GO:0043066 negative regulation of apoptotic process
GO:0055085 transmembrane transport
GO:0097192 extrinsic apoptotic signaling pathway in absence of ligand

Cellular Component:
GO:0005737 cytoplasm
GO:0005741 mitochondrial outer membrane


-  Descriptions from all associated GenBank mRNAs
  LP895996 - Sequence 860 from Patent EP3253886.
U27467 - Human Bcl-2 related (Bfl-1) mRNA, complete cds.
BC016281 - Homo sapiens BCL2-related protein A1, mRNA (cDNA clone MGC:8991 IMAGE:3920808), complete cds.
Y09397 - H.sapiens mRNA for GRS protein.
LP895314 - Sequence 178 from Patent EP3253886.
U29680 - Human A1 protein mRNA, complete cds.
JD379984 - Sequence 361008 from Patent EP1572962.
JD539000 - Sequence 520024 from Patent EP1572962.
JD263430 - Sequence 244454 from Patent EP1572962.
JD067360 - Sequence 48384 from Patent EP1572962.
CR541937 - Homo sapiens full open reading frame cDNA clone RZPDo834A0734D for gene BCL2A1, BCL2-related protein A1; complete cds, incl. stopcodon.
AY234180 - Homo sapiens A1 splice variant mRNA, complete cds; alternatively spliced.
BT007103 - Homo sapiens BCL2-related protein A1 mRNA, complete cds.
DQ891109 - Synthetic construct clone IMAGE:100003739; FLH169405.01X; RZPDo839B1296D BCL2-related protein A1 (BCL2A1) gene, encodes complete protein.
DQ894290 - Synthetic construct Homo sapiens clone IMAGE:100008750; FLH169401.01L; RZPDo839B1295D BCL2-related protein A1 (BCL2A1) gene, encodes complete protein.
AB464467 - Synthetic construct DNA, clone: pF1KB8880, Homo sapiens BCL2A1 gene for BCL2-related protein A1, without stop codon, in Flexi system.
CR541962 - Homo sapiens full open reading frame cDNA clone RZPDo834H0634D for gene BCL2A1, BCL2-related protein A1; complete cds, without stopcodon.
AL110097 - Homo sapiens EST from clone 814478, 5' end.
AK304026 - Homo sapiens cDNA FLJ60214 complete cds, highly similar to Bcl-2-related protein A1.
JD148886 - Sequence 129910 from Patent EP1572962.
JD439951 - Sequence 420975 from Patent EP1572962.
JD491674 - Sequence 472698 from Patent EP1572962.
MP067519 - Sequence 23 from Patent WO2018232288.

-  Other Names for This Gene
  Alternate Gene Symbols: B2LA1_HUMAN, BCL2L5, BFL1, ENST00000267953.1, ENST00000267953.2, ENST00000267953.3, GRS, HBPA1, NM_004049, Q16548, Q6FGZ4, Q6FH19, Q86W13, Q99524, uc317imb.1, uc317imb.2
UCSC ID: ENST00000267953.4_7
RefSeq Accession: NM_004049.4
Protein: Q16548 (aka B2LA1_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.