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

Summary

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; AllianceGenome:HGNC:991
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: all
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Genomic context

Location:: 15q25.1

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	15	NC_000015.10 (79960892..79971196, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	15	NC_060939.1 (77823803..77834097, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	15	NC_000015.9 (80253234..80263538, complement)

Chromosome 15 - NC_000015.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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 Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

MARCH5-mediated downregulation of ACC2 promotes fatty acid oxidation and tumor progression in ovarian cancer.
Title: MARCH5-mediated downregulation of ACC2 promotes fatty acid oxidation and tumor progression in ovarian cancer.
Epstein-Barr virus induces germinal center light zone chromatin architecture and promotes survival through enhancer looping at the BCL2A1 locus.
Title: Epstein-Barr virus induces germinal center light zone chromatin architecture and promotes survival through enhancer looping at the BCL2A1 locus.
BCL2A1 is associated with tumor-associated macrophages and unfavorable prognosis in human gliomas.
Title: BCL2A1 is associated with tumor-associated macrophages and unfavorable prognosis in human gliomas.
CARD11 gain of function upregulates BCL2A1 expression and promotes resistance to targeted therapies combination in B-cell lymphoma.
Title: CARD11 gain of function upregulates BCL2A1 expression and promotes resistance to targeted therapies combination in B-cell lymphoma.
MiR-3976 regulates HCT-8 cell apoptosis and parasite burden by targeting BCL2A1 in response to Cryptosporidium parvum infection.
Title: MiR-3976 regulates HCT-8 cell apoptosis and parasite burden by targeting BCL2A1 in response to Cryptosporidium parvum infection.
Bulk RNA Sequencing With Integrated Single-Cell RNA Sequencing Identifies BCL2A1 as a Potential Diagnostic and Prognostic Biomarker for Sepsis.
Title: Bulk RNA Sequencing With Integrated Single-Cell RNA Sequencing Identifies BCL2A1 as a Potential Diagnostic and Prognostic Biomarker for Sepsis.
Construction of three-gene-based prognostic signature and analysis of immune cells infiltration in children and young adults with B-acute lymphoblastic leukemia.
Title: Construction of three-gene-based prognostic signature and analysis of immune cells infiltration in children and young adults with B-acute lymphoblastic leukemia.
lncRNA PANTR1 Upregulates BCL2A1 Expression to Promote Tumorigenesis and Warburg Effect of Hepatocellular Carcinoma through Restraining miR-587.
Title: lncRNA PANTR1 Upregulates BCL2A1 Expression to Promote Tumorigenesis and Warburg Effect of Hepatocellular Carcinoma through Restraining miR-587.
LncRNA HORAS5 promotes taxane resistance in castration-resistant prostate cancer via a BCL2A1-dependent mechanism.
Title: LncRNA HORAS5 promotes taxane resistance in castration-resistant prostate cancer via a BCL2A1-dependent mechanism.
Molecular stratification by BCL2A1 and AIM2 provides additional prognostic value in penile squamous cell carcinoma.
Title: Molecular stratification by BCL2A1 and AIM2 provides additional prognostic value in penile squamous cell carcinoma.

Submit: New GeneRIF Correction See all GeneRIFs (67)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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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

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

STS-U27467 (e-PCR)
- UniSTS:9263

D10S1618E (e-PCR)
- UniSTS:153925

RH68628 (e-PCR)
- UniSTS:20301

SHGC-35552 (e-PCR)
- UniSTS:8795

SHGC-64943 (e-PCR)
- UniSTS:75641

PMC97140P1 (e-PCR)
- UniSTS:273642

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables BH domain binding	IBA Inferred from Biological aspect of Ancestor more info
enables channel activity	IBA Inferred from Biological aspect of Ancestor more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in activation of cysteine-type endopeptidase activity involved in apoptotic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in extrinsic apoptotic signaling pathway in absence of ligand	IBA Inferred from Biological aspect of Ancestor more info
involved_in intrinsic apoptotic signaling pathway in response to DNA damage	IBA Inferred from Biological aspect of Ancestor more info
involved_in mitochondrial fusion	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of apoptotic process	ISS Inferred from Sequence or Structural Similarity more info
involved_in release of cytochrome c from mitochondria	IBA Inferred from Biological aspect of Ancestor more info
involved_in transmembrane transport	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	TAS Traceable Author Statement more info
is_active_in mitochondrial outer membrane	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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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

NCBI Reference Sequences (RefSeq)

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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

NG_029487.1 RefSeqGene

Range

5106..15410

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001114735.2 → NP_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/TrEMBL

B4E1X9

Related

ENSP00000335250.6, ENST00000335661.6

Conserved Domains (1) summary

smart00337
Location:37 → 140

BCL; BCL (B-Cell lymphoma); contains BH1, BH2 regions
NM_004049.4 → NP_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, U27467

Consensus CDS

CCDS10312.1

UniProtKB/Swiss-Prot

Q16548, Q6FGZ4, Q6FH19, Q86W13, Q99524

UniProtKB/TrEMBL

B4E1X9

Related

ENSP00000267953.3, ENST00000267953.4

Conserved Domains (1) summary

cd06845
Location:10 → 146

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 ...