Human Gene BECN1 (uc002ibn.2)
  Description: Homo sapiens beclin 1, autophagy related (BECN1), mRNA.
RefSeq Summary (NM_003766): 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].
Transcript (Including UTRs)
   Position: hg19 chr17:40,962,150-40,976,310 Size: 14,161 Total Exon Count: 12 Strand: -
Coding Region
   Position: hg19 chr17:40,962,778-40,975,895 Size: 13,118 Coding Exon Count: 11 

Page IndexSequence and LinksUniProtKB CommentsPrimersGenetic AssociationsMalaCards
CTDGene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein Structure
Other SpeciesGO AnnotationsmRNA DescriptionsPathwaysOther NamesModel Information
Methods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr17:40,962,150-40,976,310)mRNA (may differ from genome)Protein (450 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
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MGIneXtProtOMIMPubMedReactomeTreefam
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: BECN1_HUMAN
DESCRIPTION: RecName: Full=Beclin-1; AltName: Full=Coiled-coil myosin-like BCL2-interacting protein; AltName: Full=Protein GT197;
FUNCTION: Plays a central role in autophagy. Required for the abcission step in cytokinesis. May play a role in antiviral host defense. Protects against infection by a neurovirulent strain of Sindbis virus.
SUBUNIT: Interacts with GOPC and GRID2. Interacts with AMBRA1. Forms a complex with PIK3C3 and PIK3R4 and either UVRAG and KIAA0226/Rubicon, or with ATG14. UVRAG and ATG14 form mutually exclusive complexes through direct competition for BECN1-binding. The complex containing ATG14 up-regulates autophagy, while the one containing Rubicon down-regulates autophagy (By similarity). Interacts with BCL2 and BCL2L1. Interacts with VMP1. Interacts with PIK3CB (By similarity). Interacts with DAPK1. Interacts with human cytomegalovirus/HHV-5 protein TRS1.
INTERACTION: P10415:BCL2; NbExp=3; IntAct=EBI-949378, EBI-77694; Q07817-1:BCL2L1; NbExp=4; IntAct=EBI-949378, EBI-287195; Q8IYI6:EXOC8; NbExp=4; IntAct=EBI-949378, EBI-742102; Q8NEB9:PIK3C3; NbExp=6; IntAct=EBI-949378, EBI-1056470;
SUBCELLULAR LOCATION: Golgi apparatus, trans-Golgi network membrane; Peripheral membrane protein. Note=Interaction with ATG14 promotes translocation to autophagosomes. Expressed in dendrites and cell bodies of cerebellar Purkinje cells (By similarity).
TISSUE SPECIFICITY: Ubiquitous.
PTM: Phosphorylation at Thr-119 by DAPK1 reduces its interaction with BCL2 and BCL2L1 and promotes induction of autophagy.
PTM: Ubiquitinated. Deubiquitinated by USP10 and USP13, leading to stabilize the PIK3C3/VPS34-containing complexes.
SIMILARITY: Belongs to the beclin 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


-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): BECN1
CDC HuGE Published Literature: BECN1

-  MalaCards Disease Associations
  MalaCards Gene Search: BECN1
Diseases sorted by gene-association score: cervix carcinoma (3), breast cancer (2), wolfram syndrome 2 (1), pleomorphic adenoma carcinoma (1)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  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: 25.92 RPKM in Esophagus - Muscularis
Total median expression: 793.59 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 -76.30162-0.471 Picture PostScript Text
3' UTR -132.75628-0.211 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
IPR007243 - Beclin_fam

Pfam Domains:
PF04111 - Autophagy protein Apg6
PF15285 - Beclin-1 BH3 domain, Bcl-2-interacting

Protein Data Bank (PDB) 3-D Structure
MuPIT help
2P1L - X-ray MuPIT 2PON - NMR MuPIT 3DVU - X-ray 4DDP - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on Q14457
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-  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 orthologGenome BrowserGenome BrowserGenome BrowserGenome BrowserGenome Browser
Gene DetailsGene Details Gene DetailsGene DetailsGene Details
Gene SorterGene Sorter Gene SorterGene SorterGene Sorter
 RGDEnsemblFlyBaseWormBaseSGD
 Protein SequenceProtein SequenceProtein SequenceProtein SequenceProtein Sequence
 AlignmentAlignmentAlignmentAlignmentAlignment

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005515 protein binding
GO:0019901 protein kinase binding
GO:0031625 ubiquitin protein ligase binding
GO:0042803 protein homodimerization activity
GO:0043548 phosphatidylinositol 3-kinase binding
GO:0051020 GTPase binding

Biological Process:
GO:0000045 autophagosome assembly
GO:0000422 mitophagy
GO:0000423 macromitophagy
GO:0001666 response to hypoxia
GO:0006897 endocytosis
GO:0006914 autophagy
GO:0006915 apoptotic process
GO:0006968 cellular defense response
GO:0006995 cellular response to nitrogen starvation
GO:0007040 lysosome organization
GO:0007049 cell cycle
GO:0007080 mitotic metaphase plate congression
GO:0007568 aging
GO:0008285 negative regulation of cell proliferation
GO:0010040 response to iron(II) ion
GO:0010288 response to lead ion
GO:0010507 negative regulation of autophagy
GO:0010508 positive regulation of autophagy
GO:0010613 positive regulation of cardiac muscle hypertrophy
GO:0014068 positive regulation of phosphatidylinositol 3-kinase signaling
GO:0016032 viral process
GO:0016236 macroautophagy
GO:0016579 protein deubiquitination
GO:0031667 response to nutrient levels
GO:0032465 regulation of cytokinesis
GO:0032801 receptor catabolic process
GO:0033197 response to vitamin E
GO:0034198 cellular response to amino acid starvation
GO:0042149 cellular response to glucose starvation
GO:0042493 response to drug
GO:0043066 negative regulation of apoptotic process
GO:0043652 engulfment of apoptotic cell
GO:0044804 nucleophagy
GO:0045022 early endosome to late endosome transport
GO:0045324 late endosome to vacuole transport
GO:0048666 neuron development
GO:0050435 beta-amyloid metabolic process
GO:0050790 regulation of catalytic activity
GO:0051301 cell division
GO:0051607 defense response to virus
GO:0051707 response to other organism
GO:0060548 negative regulation of cell death
GO:0070301 cellular response to hydrogen peroxide
GO:0071275 cellular response to aluminum ion
GO:0071280 cellular response to copper ion
GO:0071364 cellular response to epidermal growth factor stimulus
GO:0098780 response to mitochondrial depolarisation
GO:1902425 positive regulation of attachment of mitotic spindle microtubules to kinetochore
GO:1902902 negative regulation of autophagosome assembly
GO:1905672 negative regulation of lysosome organization
GO:2000378 negative regulation of reactive oxygen species metabolic process
GO:2000786 positive regulation of autophagosome assembly
GO:0032258 CVT pathway

Cellular Component:
GO:0000407 pre-autophagosomal structure
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0005739 mitochondrion
GO:0005768 endosome
GO:0005776 autophagosome
GO:0005783 endoplasmic reticulum
GO:0005789 endoplasmic reticulum membrane
GO:0005794 Golgi apparatus
GO:0005802 trans-Golgi network
GO:0005829 cytosol
GO:0010008 endosome membrane
GO:0016020 membrane
GO:0019898 extrinsic component of membrane
GO:0030425 dendrite
GO:0031410 cytoplasmic vesicle
GO:0031966 mitochondrial membrane
GO:0032991 macromolecular complex
GO:0034271 phosphatidylinositol 3-kinase complex, class III, type I
GO:0034272 phosphatidylinositol 3-kinase complex, class III, type II
GO:0035032 phosphatidylinositol 3-kinase complex, class III
GO:0045335 phagocytic vesicle


-  Descriptions from all associated GenBank mRNAs
  HM005628 - Homo sapiens clone HTL-S-215e testis secretory sperm-binding protein Li 215e mRNA, complete cds.
JA482253 - Sequence 236 from Patent WO2011072091.
JE980545 - Sequence 236 from Patent EP2862929.
BC010276 - Homo sapiens beclin 1, autophagy related, mRNA (cDNA clone MGC:5218 IMAGE:2901072), complete cds.
BX647788 - Homo sapiens mRNA; cDNA DKFZp686I1686 (from clone DKFZp686I1686).
AF139131 - Homo sapiens beclin 1 (BECN1) mRNA, complete cds.
L38932 - Homo sapiens GT197 partial ORF mRNA, 3' end of cds.
JD354861 - Sequence 335885 from Patent EP1572962.
AK298619 - Homo sapiens cDNA FLJ52719 complete cds, moderately similar to Beclin-1.
JD566500 - Sequence 547524 from Patent EP1572962.
JD184593 - Sequence 165617 from Patent EP1572962.
JD566499 - Sequence 547523 from Patent EP1572962.
AK299616 - Homo sapiens cDNA FLJ53178 complete cds, highly similar to Beclin-1.
JD091834 - Sequence 72858 from Patent EP1572962.
JD315168 - Sequence 296192 from Patent EP1572962.
DQ599181 - Homo sapiens piRNA piR-37247, complete sequence.
JD122769 - Sequence 103793 from Patent EP1572962.
JD182044 - Sequence 163068 from Patent EP1572962.
AK223411 - Homo sapiens mRNA for beclin 1 variant, clone: FCC109B08.
JD309979 - Sequence 291003 from Patent EP1572962.
AK130396 - Homo sapiens cDNA FLJ26886 fis, clone PRS09319.
AF077301 - Homo sapiens Bcl-2-interacting protein beclin mRNA, complete cds.
AK312651 - Homo sapiens cDNA, FLJ93038, highly similar to Homo sapiens beclin 1 (coiled-coil, myosin-like BCL2 interacting protein) (BECN1), mRNA.
DQ891633 - Synthetic construct clone IMAGE:100004263; FLH178818.01X; RZPDo839H06128D beclin 1 (coiled-coil, myosin-like BCL2 interacting protein) (BECN1) gene, encodes complete protein.
DQ894823 - Synthetic construct Homo sapiens clone IMAGE:100009283; FLH178814.01L; RZPDo839H06127D beclin 1 (coiled-coil, myosin-like BCL2 interacting protein) (BECN1) gene, encodes complete protein.
KC776730 - Homo sapiens beclin 1 isoform 2 mRNA, complete cds, alternatively spliced.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa04140 - Regulation of autophagy

Reactome (by CSHL, EBI, and GO)

Protein Q14457 (Reactome details) participates in the following event(s):

R-HSA-5678313 AMBRA1:DYNLL1,DYNLL2 binds Beclin-1 complex
R-HSA-5679266 Beclin-1 complex translocates to the ER
R-HSA-5678315 Beclin-1 complex, p-AMBRA1 dissociate from DYNLL1,DYNLL2
R-HSA-5679205 ULK1 phosphorylates Beclin-1
R-HSA-1632857 ULK1 phosphorylates AMBRA1:Beclin-1 complex
R-HSA-6781779 USP13 deubiquitinates BECN1,USP10
R-HSA-5672012 Beclin-1 complex phosphorylates PtdIns
R-HSA-1632852 Macroautophagy
R-HSA-8953897 Cellular responses to external stimuli
R-HSA-5689880 Ub-specific processing proteases
R-HSA-5688426 Deubiquitination
R-HSA-597592 Post-translational protein modification
R-HSA-392499 Metabolism of proteins

-  Other Names for This Gene
  Alternate Gene Symbols: BECN1_HUMAN, GT197, NM_003766, NP_003757, O75595, Q14457, Q9UNA8
UCSC ID: uc002ibn.2
RefSeq Accession: NM_003766
Protein: Q14457 (aka BECN1_HUMAN)
CCDS: CCDS11441.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_003766.3
exon count: 12CDS single in 3' UTR: no RNA size: 2143
ORF size: 1353CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 2846.00frame shift in genome: no % Coverage: 100.00
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
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.