BECN1 beclin 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: BECN1provided by HGNC
Official Full Name: beclin 1provided by HGNC
Primary source: HGNC:HGNC:1034
See related: Ensembl:ENSG00000126581 MIM:604378; AllianceGenome:HGNC:1034
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: ATG6; VPS30; beclin1
Summary: This gene encodes a protein that regulates autophagy, a catabolic process of degradation induced by starvation. The encoded protein is a component of the phosphatidylinositol-3-kinase (PI3K) complex which mediates vesicle-trafficking processes. This protein is thought to play a role in multiple cellular processes, including tumorigenesis, neurodegeneration and apoptosis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2015]
Expression: Ubiquitous expression in colon (RPKM 32.3), duodenum (RPKM 27.0) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 17q21.31

Exon count:: 12

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	17	NC_000017.11 (42810132..42824282, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	17	NC_060941.1 (43667271..43682705, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	17	NC_000017.10 (40962150..40976300, complement)

Chromosome 17 - NC_000017.11 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: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Identification of molecular signatures and molecular dynamics simulation of highly deleterious missense variants of key autophagy regulator beclin 1: a computational based approach.
Title: Identification of molecular signatures and molecular dynamics simulation of highly deleterious missense variants of key autophagy regulator beclin 1: a computational based approach.
Autophagy Gene BECN1 Intronic Variant rs9890617 Predisposes Individuals to Hepatitis B Virus Infection.
Title: Autophagy Gene BECN1 Intronic Variant rs9890617 Predisposes Individuals to Hepatitis B Virus Infection.
BECN1 mRNA expression in breast cancer tissue; significant correlation to tumor grade.
Title: BECN1 mRNA expression in breast cancer tissue; significant correlation to tumor grade.
Regulation of platelet activation and thrombus formation in acute non-ST segment elevation myocardial infarction: Role of Beclin1.
Title: Regulation of platelet activation and thrombus formation in acute non-ST segment elevation myocardial infarction: Role of Beclin1.
VCP/p97 UFMylation stabilizes BECN1 and facilitates the initiation of autophagy.
Title: VCP/p97 UFMylation stabilizes BECN1 and facilitates the initiation of autophagy.
TMEM9 activates Rab9-dependent alternative autophagy through interaction with Beclin1.
Title: TMEM9 activates Rab9-dependent alternative autophagy through interaction with Beclin1.
Reduction of DHHC5-mediated beclin 1 S-palmitoylation underlies autophagy decline in aging.
Title: Reduction of DHHC5-mediated beclin 1 S-palmitoylation underlies autophagy decline in aging.
Upregulation of miR-499a Targets Beclin1 to Modulate Astrocyte Autophagy and Promote Ischemic Stroke.
Title: Upregulation of miR-499a Targets Beclin1 to Modulate Astrocyte Autophagy and Promote Ischemic Stroke.
Targeting IL-6/STAT3 signaling abrogates EGFR-TKI resistance through inhibiting Beclin-1 dependent autophagy in HNSCC.
Title: Targeting IL-6/STAT3 signaling abrogates EGFR-TKI resistance through inhibiting Beclin-1 dependent autophagy in HNSCC.
VHL suppresses autophagy and tumor growth through PHD1-dependent Beclin1 hydroxylation.
Title: VHL suppresses autophagy and tumor growth through PHD1-dependent Beclin1 hydroxylation.

Submit: New GeneRIF Correction See all GeneRIFs (490)

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
Asp	asp	HIV-1 ASP expression upregulates the levels of two autophagy markers, LC3b and Beclin 1 in COS-7 cells, suggesting ASP activates autophagy in mammalian cells	PubMed
Envelope surface glycoprotein gp120	env	HIV-1 Env gp120 treatment of SH-SY5Y cells increases BECN1 which indicates the initiation of autophagosome formation	PubMed
Nef	nef	HIV-1 Nef directly interacts with Beclin-1 to inhibit autophagy in human mesenchymal stem cells	PubMed
	nef	Genome-wide shRNA screening identifies BECN1, which is required for HIV-1 Nef-induced downregulation of CD4 in HeLa CD4+ cells	PubMed
	nef	HIV-1 Nef acts as an antiautophagic maturation factor through interaction with the autophagy regulatory factor Beclin 1, leading to protect HIV-1 from degradation	PubMed
capsid	gag	Knockdown of Beclin 1 (ATG6) results in diminished levels of p24 yields in both primary monocyte- and U937-derived macrophages	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-U17909 (e-PCR)
- UniSTS:6931

RH48446 (e-PCR)
- UniSTS:73245

PMC156606P3 (e-PCR)
- UniSTS:271410

PMC156606P4 (e-PCR)
- UniSTS:271411

RH17649 (e-PCR)
- UniSTS:55112

WI-11793 (e-PCR)
- UniSTS:43649

RH48640 (e-PCR)
- UniSTS:70096

G20453 (e-PCR)
- UniSTS:28904

A005R43 (e-PCR)
- UniSTS:28905

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables GTPase binding	IPI Inferred from Physical Interaction more info	PubMed
enables identical protein binding	IEA Inferred from Electronic Annotation more info
enables molecular adaptor activity	IDA Inferred from Direct Assay more info	PubMed
enables phosphatidylinositol 3-kinase binding	IBA Inferred from Biological aspect of Ancestor more info
enables phosphatidylinositol 3-kinase binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein kinase binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein-macromolecule adaptor activity	IBA Inferred from Biological aspect of Ancestor more info
enables protein-macromolecule adaptor activity	IDA Inferred from Direct Assay more info	PubMed
enables ubiquitin protein ligase binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in JNK cascade	IEA Inferred from Electronic Annotation more info
involved_in SMAD protein signal transduction	IEA Inferred from Electronic Annotation more info
involved_in amyloid-beta metabolic process	IEA Inferred from Electronic Annotation more info
involved_in apoptotic process	IEA Inferred from Electronic Annotation more info
involved_in autophagosome assembly	IBA Inferred from Biological aspect of Ancestor more info
involved_in autophagosome assembly	IDA Inferred from Direct Assay more info	PubMed
involved_in autophagosome assembly	ISS Inferred from Sequence or Structural Similarity more info
involved_in autophagosome maturation	IDA Inferred from Direct Assay more info	PubMed
involved_in autophagy	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within autophagy	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in autophagy	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cell division	IEA Inferred from Electronic Annotation more info
involved_in cellular defense response	TAS Traceable Author Statement more info	PubMed
involved_in cellular response to aluminum ion	IEA Inferred from Electronic Annotation more info
involved_in cellular response to amino acid starvation	IEA Inferred from Electronic Annotation more info
involved_in cellular response to copper ion	IEA Inferred from Electronic Annotation more info
involved_in cellular response to epidermal growth factor stimulus	IEA Inferred from Electronic Annotation more info
involved_in cellular response to glucose starvation	ISS Inferred from Sequence or Structural Similarity more info
involved_in cellular response to hydrogen peroxide	IEA Inferred from Electronic Annotation more info
involved_in cellular response to nitrogen starvation	IBA Inferred from Biological aspect of Ancestor more info
involved_in cellular response to oxygen-glucose deprivation	IEA Inferred from Electronic Annotation more info
involved_in cytoplasmic pattern recognition receptor signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in defense response to virus	IEA Inferred from Electronic Annotation more info
involved_in early endosome to late endosome transport	IDA Inferred from Direct Assay more info	PubMed
involved_in early endosome to late endosome transport	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in engulfment of apoptotic cell	IEA Inferred from Electronic Annotation more info
involved_in late endosome to vacuole transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in lysosome organization	IEA Inferred from Electronic Annotation more info
involved_in macroautophagy	ISS Inferred from Sequence or Structural Similarity more info
involved_in mitophagy	IBA Inferred from Biological aspect of Ancestor more info
involved_in mitophagy	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in mitotic metaphase chromosome alignment	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of apoptotic process	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of autophagosome assembly	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of cell population proliferation	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of lysosome organization	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within negative regulation of programmed cell death	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of reactive oxygen species metabolic process	IEA Inferred from Electronic Annotation more info
involved_in neuron development	IEA Inferred from Electronic Annotation more info
involved_in p38MAPK cascade	IEA Inferred from Electronic Annotation more info
involved_in phosphatidylinositol-3-phosphate biosynthetic process	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of attachment of mitotic spindle microtubules to kinetochore	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of autophagosome assembly	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of autophagy	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of cardiac muscle hypertrophy	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of intrinsic apoptotic signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of intrinsic apoptotic signaling pathway	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	NAS Non-traceable Author Statement more info	PubMed
involved_in positive regulation of stress granule assembly	IEA Inferred from Electronic Annotation more info
involved_in protein targeting to lysosome	NAS Non-traceable Author Statement more info	PubMed
involved_in protein-containing complex assembly	IDA Inferred from Direct Assay more info	PubMed
involved_in receptor catabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of autophagy	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of cytokinesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of macroautophagy	IDA Inferred from Direct Assay more info	PubMed
involved_in response to hypoxia	IEA Inferred from Electronic Annotation more info
involved_in response to iron(II) ion	IEA Inferred from Electronic Annotation more info
involved_in response to lead ion	IEA Inferred from Electronic Annotation more info
involved_in response to mitochondrial depolarisation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in response to vitamin E	IEA Inferred from Electronic Annotation more info
involved_in response to xenobiotic stimulus	IEA Inferred from Electronic Annotation more info
involved_in suppression by virus of host autophagy	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
is_active_in autophagosome	ISS Inferred from Sequence or Structural Similarity more info	PubMed
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasmic side of mitochondrial outer membrane	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	IDA Inferred from Direct Assay more info
located_in cytosol	TAS Traceable Author Statement more info
located_in dendrite	IEA Inferred from Electronic Annotation more info
located_in endoplasmic reticulum	IDA Inferred from Direct Assay more info	PubMed
located_in endoplasmic reticulum membrane	IEA Inferred from Electronic Annotation more info
located_in endosome	IDA Inferred from Direct Assay more info	PubMed
located_in endosome membrane	IEA Inferred from Electronic Annotation more info
colocalizes_with mitochondrion	IMP Inferred from Mutant Phenotype more info	PubMed
located_in nuclear body	IDA Inferred from Direct Assay more info
located_in phagocytic vesicle	IEA Inferred from Electronic Annotation more info
is_active_in phagophore assembly site	IBA Inferred from Biological aspect of Ancestor more info
part_of phosphatidylinositol 3-kinase complex, class III	IPI Inferred from Physical Interaction more info	PubMed
part_of phosphatidylinositol 3-kinase complex, class III	ISS Inferred from Sequence or Structural Similarity more info
part_of phosphatidylinositol 3-kinase complex, class III, type I	IBA Inferred from Biological aspect of Ancestor more info
part_of phosphatidylinositol 3-kinase complex, class III, type II	IBA Inferred from Biological aspect of Ancestor more info
located_in trans-Golgi network	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: beclin-1

Names: ATG6 autophagy related 6 homolog; beclin 1 (coiled-coil, moesin-like BCL2-interacting protein); beclin 1, autophagy related; beclin1-beta; beclin1-gamma; coiled-coil myosin-like BCL2-interacting protein; testis secretory sperm-binding protein Li 215e

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.

mRNA and Protein(s)

NM_001313998.2 → NP_001300927.1 beclin-1 isoform a

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 encode the same isoform (a).

Source sequence(s)

AC016889, AK312651, BC010276, DC354547

Consensus CDS

CCDS11441.1

UniProtKB/Swiss-Prot

B2R6N7, O75595, Q14457, Q9UNA8

UniProtKB/TrEMBL

A0A024R1X5, Q53F78

Related

ENSP00000465364.1, ENST00000590099.6

Conserved Domains (3) summary

pfam15285
Location:107 → 129

BH3; Beclin-1 BH3 domain, Bcl-2-interacting

pfam04111
Location:267 → 445

APG6; Autophagy protein Apg6

pfam17675
Location:135 → 261

APG6_N; Apg6 coiled-coil region
NM_001313999.1 → NP_001300928.1 beclin-1 isoform b

Status: REVIEWED

Description

Transcript Variant: This variant (3) lacks an alternate exon in the 3' coding region resulting in a frameshift, compared to variant 1. The encoded isoform (b) has a distinct C-terminus, and is shorter than isoform a.

Source sequence(s)

AA427906, BC010276, KC776730

UniProtKB/TrEMBL

W0FFG4

Conserved Domains (3) summary

pfam04111
Location:135 → 348

APG6; Autophagy protein Apg6

pfam12777
Location:196 → 269

MT; Microtubule-binding stalk of dynein motor

pfam15285
Location:107 → 129

BH3; Beclin-1 BH3 domain, Bcl-2-interacting
NM_001314000.2 → NP_001300929.1 beclin-1 isoform c

Status: REVIEWED

Description

Transcript Variant: This variant (4) has multiple differences compared to variant 1. These differences result in a distinct 5' UTR and a frameshift in the 3' coding region, compared to variant 1. The encoded isoform (c) has a distinct C-terminus, and is shorter than isoform a.

Source sequence(s)

AC016889, AK298619, BC010276

Consensus CDS

CCDS82132.1

UniProtKB/TrEMBL

B4DQ36, E7EV84

Related

ENSP00000416173.2, ENST00000438274.7

Conserved Domains (2) summary

pfam04111
Location:87 → 272

APG6; Autophagy protein Apg6

pfam12777
Location:120 → 193

MT; Microtubule-binding stalk of dynein motor
NM_003766.5 → NP_003757.1 beclin-1 isoform a

See identical proteins and their annotated locations for NP_003757.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a). Variants 1 and 2 encode the same isoform.

Source sequence(s)

BC010276, DC354547

Consensus CDS

CCDS11441.1

UniProtKB/Swiss-Prot

B2R6N7, O75595, Q14457, Q9UNA8

UniProtKB/TrEMBL

A0A024R1X5, Q53F78

Related

ENSP00000355231.3, ENST00000361523.8

Conserved Domains (3) summary

pfam15285
Location:107 → 129

BH3; Beclin-1 BH3 domain, Bcl-2-interacting

pfam04111
Location:267 → 445

APG6; Autophagy protein Apg6

pfam17675
Location:135 → 261

APG6_N; Apg6 coiled-coil region

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000017.11 Reference GRCh38.p14 Primary Assembly

Range

42810132..42824282 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_005257759.4 → XP_005257816.1 beclin-1 isoform X1

UniProtKB/TrEMBL

Q53F78

Conserved Domains (3) summary

pfam04111
Location:135 → 378

APG6; Autophagy protein Apg6

pfam12777
Location:196 → 269

MT; Microtubule-binding stalk of dynein motor

pfam15285
Location:107 → 129

BH3; Beclin-1 BH3 domain, Bcl-2-interacting
XM_005257760.5 → XP_005257817.1 beclin-1 isoform X2

See identical proteins and their annotated locations for XP_005257817.1

UniProtKB/TrEMBL

W0FFG4

Conserved Domains (3) summary

pfam04111
Location:135 → 348

APG6; Autophagy protein Apg6

pfam12777
Location:196 → 269

MT; Microtubule-binding stalk of dynein motor

pfam15285
Location:107 → 129

BH3; Beclin-1 BH3 domain, Bcl-2-interacting
XM_017025263.3 → XP_016880752.1 beclin-1 isoform X1

UniProtKB/TrEMBL

Q53F78

Conserved Domains (3) summary

pfam04111
Location:135 → 378

APG6; Autophagy protein Apg6

pfam12777
Location:196 → 269

MT; Microtubule-binding stalk of dynein motor

pfam15285
Location:107 → 129

BH3; Beclin-1 BH3 domain, Bcl-2-interacting
XM_017025264.3 → XP_016880753.1 beclin-1 isoform X2

UniProtKB/TrEMBL

W0FFG4

Conserved Domains (3) summary

pfam04111
Location:135 → 348

APG6; Autophagy protein Apg6

pfam12777
Location:196 → 269

MT; Microtubule-binding stalk of dynein motor

pfam15285
Location:107 → 129

BH3; Beclin-1 BH3 domain, Bcl-2-interacting