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

Summary

Official Symbol: BBC3provided by HGNC
Official Full Name: BCL2 binding component 3provided by HGNC
Primary source: HGNC:HGNC:17868
See related: Ensembl:ENSG00000105327 MIM:605854; AllianceGenome:HGNC:17868
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]
Expression: Ubiquitous expression in colon (RPKM 3.5), stomach (RPKM 1.4) and 24 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 19q13.32

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	19	NC_000019.10 (47220824..47232860, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	19	NC_060943.1 (50046144..50058334, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	19	NC_000019.9 (47724081..47735924, complement)

Chromosome 19 - NC_000019.10 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?

Synthetical lethality of Werner helicase and mismatch repair deficiency is mediated by p53 and PUMA in colon cancer.
Title: Synthetical lethality of Werner helicase and mismatch repair deficiency is mediated by p53 and PUMA in colon cancer.
PUMA overexpression dissociates thioredoxin from ASK1 to activate the JNK/BCL-2/BCL-XL pathway augmenting apoptosis in ovarian cancer.
Title: PUMA overexpression dissociates thioredoxin from ASK1 to activate the JNK/BCL-2/BCL-XL pathway augmenting apoptosis in ovarian cancer.
Recombinant human bone morphogenetic protein 2 and 7 inhibit the degeneration of intervertebral discs by blocking the Puma-dependent apoptotic signaling.
Title: Recombinant human bone morphogenetic protein 2 and 7 inhibit the degeneration of intervertebral discs by blocking the Puma-dependent apoptotic signaling.
PUMA facilitates EMI1-promoted cytoplasmic Rad51 ubiquitination and inhibits DNA repair in stem and progenitor cells.
Title: PUMA facilitates EMI1-promoted cytoplasmic Rad51 ubiquitination and inhibits DNA repair in stem and progenitor cells.
Long non-coding RNA HOTAIRincreased mechanical stimulation-induced apoptosis by regulating microRNA-221/BBC3 axis in C28/I2 cells.
Title: Long non-coding RNA HOTAIRincreased mechanical stimulation-induced apoptosis by regulating microRNA-221/BBC3 axis in C28/I2 cells.
Expression of p53 up-regulated modulator of apoptosis (PUMA) in non-melanoma skin cancer of long-term immunosuppressed solid organ transplant recipients compared to immunocompetent patients.
Title: Expression of p53 up-regulated modulator of apoptosis (PUMA) in non-melanoma skin cancer of long-term immunosuppressed solid organ transplant recipients compared to immunocompetent patients.
FBXL20 promotes breast cancer malignancy by inhibiting apoptosis through degradation of PUMA and BAX.
Title: FBXL20 promotes breast cancer malignancy by inhibiting apoptosis through degradation of PUMA and BAX.
The long non-coding RNA TSLC8 inhibits colorectal cancer by stabilizing puma.
Title: The long non-coding RNA TSLC8 inhibits colorectal cancer by stabilizing puma.
Genome-wide mRNA profiling identifies X-box-binding protein 1 (XBP1) as an IRE1 and PUMA repressor.
Title: Genome-wide mRNA profiling identifies X-box-binding protein 1 (XBP1) as an IRE1 and PUMA repressor.
Nipped-B-like Protein Sensitizes Esophageal Squamous Cell Carcinoma Cells to Cisplatin via Upregulation of PUMA.
Title: Nipped-B-like Protein Sensitizes Esophageal Squamous Cell Carcinoma Cells to Cisplatin via Upregulation of PUMA.

Submit: New GeneRIF Correction See all GeneRIFs (191)

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	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

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH70710 (e-PCR)
- UniSTS:9537

NoName (e-PCR)
- UniSTS:489843

NoName (e-PCR)
- UniSTS:482431

BBC3_3813 (e-PCR)
- UniSTS:463239

NoName (e-PCR)
- UniSTS:480681

NoName (e-PCR)
- UniSTS:494530

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ATPase binding	IPI Inferred from Physical Interaction more info	PubMed
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 apoptotic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in execution phase of apoptosis	IBA Inferred from Biological aspect of Ancestor more info
involved_in intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of intrinsic apoptotic signaling pathway	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of release of cytochrome c from mitochondria	IBA Inferred from Biological aspect of Ancestor more info
involved_in release of cytochrome c from mitochondria	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
colocalizes_with lysosome	IDA Inferred from Direct Assay more info	PubMed
is_active_in mitochondrion	IBA Inferred from Biological aspect of Ancestor more info
located_in mitochondrion	TAS Traceable Author Statement more info	PubMed

General protein information

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Preferred Names: bcl-2-binding component 3

Names: p53 up-regulated modulator of apoptosis; p53-upregulated modulator of apoptosis

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_031991.2 RefSeqGene

Range

6568..16943

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

See identical proteins and their annotated locations for 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)

AC008532

Consensus CDS

CCDS46129.1

UniProtKB/Swiss-Prot

Q96PG8

Related

ENSP00000404503.1, ENST00000449228.5
NM_001127241.3 → NP_001120713.1 bcl-2-binding component 3 isoform 2

See identical proteins and their annotated locations for 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)

AC008532

Consensus CDS

CCDS46130.1

UniProtKB/Swiss-Prot

Q9BXH1

Related

ENSP00000341155.4, ENST00000341983.8

Conserved Domains (1) summary

pfam15826
Location:12 → 131

PUMA; Bcl-2-binding component 3, p53 upregulated modulator of apoptosis
NM_001127242.3 → NP_001120714.1 bcl-2-binding component 3 isoform 3

See identical proteins and their annotated locations for 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)

AC008532

Consensus CDS

CCDS46128.1

UniProtKB/Swiss-Prot

Q96PG8, Q9BXH1

Related

ENSP00000300880.7, ENST00000300880.11
NM_014417.5 → NP_055232.1 bcl-2-binding component 3 isoform 4

See identical proteins and their annotated locations for 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)

AC008532

Consensus CDS

CCDS12697.1

UniProtKB/Swiss-Prot

B9EGI3, O00171, Q96PG9, Q9BXH1

UniProtKB/TrEMBL

B4DQK3

Related

ENSP00000395862.2, ENST00000439096.3

Conserved Domains (1) summary

pfam15826
Location:2 → 193

PUMA; Bcl-2-binding component 3, p53 upregulated modulator of apoptosis

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000019.10 Reference GRCh38.p14 Primary Assembly

Range

47220824..47232860 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006723141.4 → XP_006723204.1 bcl-2-binding component 3 isoform X1

See identical proteins and their annotated locations for XP_006723204.1

UniProtKB/Swiss-Prot

B9EGI3, O00171, Q96PG9, Q9BXH1

UniProtKB/TrEMBL

B4DQK3

Conserved Domains (1) summary

pfam15826
Location:2 → 193

PUMA; Bcl-2-binding component 3, p53 upregulated modulator of apoptosis
XM_047438606.1 → XP_047294562.1 bcl-2-binding component 3 isoform X1

UniProtKB/Swiss-Prot

B9EGI3, O00171, Q96PG9, Q9BXH1
XM_011526722.3 → XP_011525024.1 bcl-2-binding component 3 isoform X2

UniProtKB/TrEMBL

B4DQK3

Conserved Domains (1) summary

pfam15826
Location:18 → 209

PUMA; Bcl-2-binding component 3, p53 upregulated modulator of apoptosis