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BCL2A1 BCL2 related protein A1 [ Homo sapiens (human) ]

Gene ID: 597, updated on 3-Jun-2018
Official Symbol
BCL2A1provided by HGNC
Official Full Name
BCL2 related protein A1provided by HGNC
Primary source
HGNC:HGNC:991
See related
Ensembl:ENSG00000140379 MIM:601056; Vega:OTTHUMG00000144173
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
GRS; ACC1; ACC2; BFL1; ACC-1; ACC-2; HBPA1; BCL2L5
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]
Expression
Biased expression in bone marrow (RPKM 133.6), appendix (RPKM 46.2) and 4 other tissues See more
Orthologs
See BCL2A1 in Genome Data Viewer
Location:
15q25.1
Exon count:
3
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 15 NC_000015.10 (79960890..79971301, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (80253232..80263643, complement)

Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene ST20-MTHFS readthrough Neighboring gene suppressor of tumorigenicity 20 Neighboring gene ST20 antisense RNA 1 Neighboring gene farnesyl diphosphate synthase pseudogene 9 Neighboring gene ribonucleotide reductase regulatory subunit M2 pseudogene Neighboring gene zinc finger AN1-type containing 6

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Jun 15 11:32:44 2016

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Protein interactions

Protein Gene Interaction Pubs
Envelope surface glycoprotein gp120 env Gp120-induced M-CSF downregulates the TRAIL receptor TRAIL-R1/DR4 and upregulates the anti-apoptotic genes Bfl-1 and Mcl-1 PubMed
Vpu vpu Levels of A1/Bfl-1 are reduced in T cells as a result of HIV-1 Vpu-mediated inhibition of NF-kappa B activation PubMed

Go to the HIV-1, Human Interaction Database

Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein heterodimerization activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein homodimerization activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
extrinsic apoptotic signaling pathway in absence of ligand IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
intrinsic apoptotic signaling pathway in response to DNA damage IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
negative regulation of apoptotic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
negative regulation of apoptotic process ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of intrinsic apoptotic signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
mitochondrial outer membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Preferred Names
bcl-2-related protein A1
Names
bcl-2-like protein 5
bcl2-L-5
hematopoietic BCL2-related protein A1
hemopoietic-specific early response protein
protein BFL-1

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_029487.1 RefSeqGene

    Range
    5001..15412
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001114735.1NP_001108207.1  bcl-2-related protein A1 isoform 2

    See identical proteins and their annotated locations for NP_001108207.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) has an additional exon in the coding region, as compared to variant 1. The resulting isoform (2) has a different and shorter C-terminus, as compared to isoform 1.
    Source sequence(s)
    AY234180, BG198875, BG204033, CD640106
    Consensus CDS
    CCDS45322.1
    UniProtKB/Swiss-Prot
    Q16548
    Related
    ENSP00000335250.6, OTTHUMP00000185567, ENST00000335661.6, OTTHUMT00000291373
    Conserved Domains (1) summary
    smart00337
    Location:37140
    BCL; BCL (B-Cell lymphoma); contains BH1, BH2 regions
  2. NM_004049.3NP_004040.1  bcl-2-related protein A1 isoform 1

    See identical proteins and their annotated locations for NP_004040.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (1).
    Source sequence(s)
    BG198875, BG204033, U27467
    Consensus CDS
    CCDS10312.1
    UniProtKB/Swiss-Prot
    Q16548
    Related
    ENSP00000267953.3, OTTHUMP00000185566, ENST00000267953.3, OTTHUMT00000291372
    Conserved Domains (1) summary
    cd06845
    Location:10146
    Bcl-2_like; Apoptosis regulator proteins of the Bcl-2 family, named after B-cell lymphoma 2. This alignment model spans what have been described as Bcl-2 homology regions BH1, BH2, BH3, and BH4. Many members of this family have an additional C-terminal transmembrane ...

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000015.10 Reference GRCh38.p12 Primary Assembly

    Range
    79960890..79971301 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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