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BBC3 BCL2 binding component 3 [ Homo sapiens (human) ]

Gene ID: 27113, updated on 19-Nov-2014
Official Symbol
BBC3provided by HGNC
Official Full Name
BCL2 binding component 3provided by HGNC
Primary source
HGNC:HGNC:17868
See related
Ensembl:ENSG00000105327; HPRD:16165; MIM:605854; Vega:OTTHUMG00000183489
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
JFY1; PUMA; JFY-1
Summary
This gene encodes a member of the BCL-2 family of proteins. This family member belongs to the BH3-only pro-apoptotic subclass. The protein cooperates with direct activator proteins to induce mitochondrial outer membrane permeabilization and apoptosis. It can bind to anti-apoptotic Bcl-2 family members to induce mitochondrial dysfunction and caspase activation. Because of its pro-apoptotic role, this gene is a potential drug target for cancer therapy and for tissue injury. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2011]
See BBC3 in Epigenomics, MapViewer
Location:
19q13.3-q13.4
Exon count:
7
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 19 NC_000019.10 (47220822..47232853, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (47724079..47736023, complement)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene zinc finger CCCH-type containing 4 Neighboring gene SUMO1 activating enzyme subunit 1 Neighboring gene microRNA 3190 Neighboring gene microRNA 3191 Neighboring gene coiled-coil domain containing 9 Neighboring gene InaF-motif containing 1

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Protein interactions

Protein Gene Interaction Pubs
Envelope surface glycoprotein gp120 env Upregulation of Puma is required for HIV-1 gp120-mediated syncytial apoptosis PubMed
env In cultured neurons, HIV-1 gp120 increases transcription factor E2F1 levels in the nucleus, stimulates its transcriptional activity, and enhances the expression of the E2F1 target proteins Cdc2 and Puma PubMed

Go to the HIV-1, Human Interaction Database

  • Activation of BH3-only proteins, organism-specific biosystem (from REACTOME)
    Activation of BH3-only proteins, organism-specific biosystemThe BH3-only members act as sentinels that selectively trigger apoptosis in response to developmental cues or stress-signals like DNA damages. Widely expressed mammalian BH3-only proteins are thought...
  • Activation of PUMA and translocation to mitochondria, organism-specific biosystem (from REACTOME)
    Activation of PUMA and translocation to mitochondria, organism-specific biosystemPuma is transactivated in a p53-dependent manner and by E2F1. Activated Puma is translocated to mitochondria.
  • Apoptosis, organism-specific biosystem (from WikiPathways)
    Apoptosis, organism-specific biosystemApoptosis is a distinct form of cell death that is functionally and morphologically different from necrosis. Nuclear chromatin condensation, cytoplasmic shrinking, dilated endoplasmic reticulum, and ...
  • Apoptosis, organism-specific biosystem (from REACTOME)
    Apoptosis, organism-specific biosystemApoptosis is a distinct form of cell death that is functionally and morphologically different from necrosis. Nuclear chromatin condensation, cytoplasmic shrinking, dilated endoplasmic reticulum, and ...
  • Apoptosis Modulation and Signaling, organism-specific biosystem (from WikiPathways)
    Apoptosis Modulation and Signaling, organism-specific biosystemApoptosis, or cell death program, can be activated by various mechanisms within the extrinsic and the intrinsic pathway. While activation of cell death receptors leads to the engagement of the extrin...
  • BH3-only proteins associate with and inactivate anti-apoptotic BCL-2 members, organism-specific biosystem (from REACTOME)
    BH3-only proteins associate with and inactivate anti-apoptotic BCL-2 members, organism-specific biosystem
    BH3-only proteins associate with and inactivate anti-apoptotic BCL-2 members
  • DNA damage response, organism-specific biosystem (from WikiPathways)
    DNA damage response, organism-specific biosystemThis is the first pathway out of two pathways which deals with DNA damage response. It has two central gene products (ATM and ATR) which are connected to the sources of DNA damage (in blue). The two ...
  • DNA damage response (only ATM dependent), organism-specific biosystem (from WikiPathways)
    DNA damage response (only ATM dependent), organism-specific biosystemThis is the second pathway out of two pathways which deals with DNA damage response. It has two central gene products (ATM and TP53) which are connected with the first DNA damage response pathway. In...
  • Direct p53 effectors, organism-specific biosystem (from Pathway Interaction Database)
    Direct p53 effectors, organism-specific biosystem
    Direct p53 effectors
  • Hippo signaling pathway, organism-specific biosystem (from KEGG)
    Hippo signaling pathway, organism-specific biosystemHippo signaling is an evolutionarily conserved signaling pathway that controls organ size from flies to humans. In humans and mice, the pathway consists of the MST1 and MST2 kinases, their cofactor S...
  • Hippo signaling pathway, conserved biosystem (from KEGG)
    Hippo signaling pathway, conserved biosystemHippo signaling is an evolutionarily conserved signaling pathway that controls organ size from flies to humans. In humans and mice, the pathway consists of the MST1 and MST2 kinases, their cofactor S...
  • Huntington's disease, organism-specific biosystem (from KEGG)
    Huntington's disease, organism-specific biosystemHuntington disease (HD) is an autosomal-dominant neurodegenerative disorder that primarily affects medium spiny striatal neurons (MSN). The symptoms are choreiform, involuntary movements, personality...
  • Huntington's disease, conserved biosystem (from KEGG)
    Huntington's disease, conserved biosystemHuntington disease (HD) is an autosomal-dominant neurodegenerative disorder that primarily affects medium spiny striatal neurons (MSN). The symptoms are choreiform, involuntary movements, personality...
  • Integrated Pancreatic Cancer Pathway, organism-specific biosystem (from WikiPathways)
    Integrated Pancreatic Cancer Pathway, organism-specific biosystemAn integrated pathway model which displays the protein-protein interactions (PPIs) among the relevant proteins for pancreatic cancer. This pathway is a collection of different mechanistic protein pat...
  • Intrinsic Pathway for Apoptosis, organism-specific biosystem (from REACTOME)
    Intrinsic Pathway for Apoptosis, organism-specific biosystemThe intrinsic (Bcl-2 inhibitable or mitochondrial) pathway of apoptosis functions in response to various types of intracellular stress including growth factor withdrawal, DNA damage, unfolding stress...
  • Measles, organism-specific biosystem (from KEGG)
    Measles, organism-specific biosystemMeasles virus (MV) is highly contagious virus that leads infant death worldwide. Humans are the unique natural reservoir for this virus. It causes severe immunosuppression favouring secondary bacteri...
  • Measles, conserved biosystem (from KEGG)
    Measles, conserved biosystemMeasles virus (MV) is highly contagious virus that leads infant death worldwide. Humans are the unique natural reservoir for this virus. It causes severe immunosuppression favouring secondary bacteri...
  • TP53 network, organism-specific biosystem (from WikiPathways)
    TP53 network, organism-specific biosystemP53 is not a lonely genome guardian, it operates with the assistance of p73 and p63 within a complex network including distinct but complementary pathways. This protein family presents a high le...
  • p53 signaling pathway, organism-specific biosystem (from KEGG)
    p53 signaling pathway, organism-specific biosystemp53 activation is induced by a number of stress signals, including DNA damage, oxidative stress and activated oncogenes. The p53 protein is employed as a transcriptional activator of p53-regulated ge...
  • p53 signaling pathway, conserved biosystem (from KEGG)
    p53 signaling pathway, conserved biosystemp53 activation is induced by a number of stress signals, including DNA damage, oxidative stress and activated oncogenes. The p53 protein is employed as a transcriptional activator of p53-regulated ge...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • FLJ42994

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
activation of cysteine-type endopeptidase activity involved in apoptotic process IDA
Inferred from Direct Assay
more info
PubMed 
apoptotic process IEA
Inferred from Electronic Annotation
more info
 
apoptotic process TAS
Traceable Author Statement
more info
 
apoptotic signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
cellular response to DNA damage stimulus ISS
Inferred from Sequence or Structural Similarity
more info
 
cellular response to hypoxia IEP
Inferred from Expression Pattern
more info
PubMed 
determination of adult lifespan ISS
Inferred from Sequence or Structural Similarity
more info
 
execution phase of apoptosis IDA
Inferred from Direct Assay
more info
PubMed 
intrinsic apoptotic signaling pathway TAS
Traceable Author Statement
more info
 
intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of endoplasmic reticulum calcium ion concentration IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of growth IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of cysteine-type endopeptidase activity ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of intrinsic apoptotic signaling pathway IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of intrinsic apoptotic signaling pathway TAS
Traceable Author Statement
more info
 
positive regulation of neuron apoptotic process ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of protein homooligomerization IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway TAS
Traceable Author Statement
more info
 
positive regulation of release of cytochrome c from mitochondria IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of release of cytochrome c from mitochondria IGI
Inferred from Genetic Interaction
more info
PubMed 
positive regulation of thymocyte apoptotic process ISS
Inferred from Sequence or Structural Similarity
more info
 
release of cytochrome c from mitochondria IDA
Inferred from Direct Assay
more info
PubMed 
release of sequestered calcium ion into cytosol IDA
Inferred from Direct Assay
more info
PubMed 
response to endoplasmic reticulum stress IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
cytosol TAS
Traceable Author Statement
more info
 
mitochondrial outer membrane TAS
Traceable Author Statement
more info
 
mitochondrion IDA
Inferred from Direct Assay
more info
PubMed 
mitochondrion IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
bcl-2-binding component 3
Names
bcl-2-binding component 3
p53 up-regulated modulator of apoptosis

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_031991.1 

    Range
    5001..16945
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001127240.2NP_001120712.1  bcl-2-binding component 3 isoform 1

    See proteins identical to NP_001120712.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) includes an alternate exon in the 5' coding region, resulting in a frameshift for the remainder of the CDS, compared to variant 2. The encoded isoform (1, also known as PUMA-gamma) has the same N-terminus but is otherwise distinct and longer, compared to isoform 2.
    Source sequence(s)
    AA887822, AF354654, BG258126, U82987
    Consensus CDS
    CCDS46129.1
    UniProtKB/Swiss-Prot
    Q96PG8
    UniProtKB/Swiss-Prot
    Q9BXH1
    Related
    ENSP00000404503, OTTHUMP00000271830, ENST00000449228, OTTHUMT00000466871
  2. NM_001127241.2NP_001120713.1  bcl-2-binding component 3 isoform 2

    See proteins identical to NP_001120713.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) encodes isoform 2 (also known as PUMA-beta), which includes the C-terminal BH3 domain and can localize to the mitochondria.
    Source sequence(s)
    AA887822, AF354655, BG258126, U82987
    Consensus CDS
    CCDS46130.1
    UniProtKB/Swiss-Prot
    Q9BXH1
    Related
    ENSP00000341155, OTTHUMP00000271832, ENST00000341983, OTTHUMT00000466873
  3. NM_001127242.2NP_001120714.1  bcl-2-binding component 3 isoform 3

    See proteins identical to NP_001120714.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks two exons spanning the 5' and central coding regions, resulting in a frameshift in the 3' coding region, compared to variant 2. The encoded isoform (3, also known as PUMA-delta) has the same N-terminus but is otherwise distinct and shorter, compared to isoform 2.
    Source sequence(s)
    AA887822, AF354656, BG258126, U82987
    Consensus CDS
    CCDS46128.1
    UniProtKB/Swiss-Prot
    Q96PG8
    UniProtKB/Swiss-Prot
    Q9BXH1
    Related
    ENSP00000300880, OTTHUMP00000271831, ENST00000300880, OTTHUMT00000466872
  4. NM_014417.4NP_055232.1  bcl-2-binding component 3 isoform 4

    See proteins identical to NP_055232.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) has alternate exon structure at its 5' end and it thus differs in the 5' UTR and 5' coding region, compared to variant 2. The encoded isoform (4, also known as PUMA-alpha) has a distinct N-terminus and is longer than isoform 2. Isoform 4 also includes the C-terminal BH3 domain and can localize to the mitochondria.
    Source sequence(s)
    AA887822, AF332558, BG258126, U82987
    Consensus CDS
    CCDS12697.1
    UniProtKB/Swiss-Prot
    Q9BXH1
    Related
    ENSP00000395862, OTTHUMP00000271833, ENST00000439096, OTTHUMT00000466874

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Alternate HuRef

Genomic

  1. AC_000151.1 

    Range
    44148994..44171276
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000019.10 

    Range
    47220822..47232853
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006723141.1XP_006723204.1  

    See proteins identical to XP_006723204.1

    UniProtKB/Swiss-Prot
    Q9BXH1
  2. XM_005258740.2XP_005258797.1  

    See proteins identical to XP_005258797.1

    UniProtKB/Swiss-Prot
    Q9BXH1

Alternate CHM1_1.1

Genomic

  1. NC_018930.2 

    Range
    47726482..47738433
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)