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

Gene ID: 27113, updated on 24-Nov-2020

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
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

Genomic context

See BBC3 in Genome Data Viewer
Location:
19q13.32
Exon count:
7
Annotation release Status Assembly Chr Location
109.20201120 current GRCh38.p13 (GCF_000001405.39) 19 NC_000019.10 (47220822..47232998, 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 SUMO1 activating enzyme subunit 1 Neighboring gene Sharpr-MPRA regulatory region 12080 Neighboring gene microRNA 3190 Neighboring gene microRNA 3191 Neighboring gene CRISPRi-validated cis-regulatory element chr19.5064 Neighboring gene coiled-coil domain containing 9

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

HIV-1 interactions

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ42994

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATPase binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Component Evidence Code Pubs
colocalizes_with lysosome IDA
Inferred from Direct Assay
more info
PubMed 
mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mitochondrion TAS
Traceable Author Statement
more info
PubMed 

General protein information

Preferred Names
bcl-2-binding component 3
Names
p53 up-regulated modulator of apoptosis
p53-upregulated modulator of apoptosis

NCBI Reference Sequences (RefSeq)

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_031991.2 RefSeqGene

    Range
    6568..16943
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001127240.3NP_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, Q9BXH1
    Related
    ENSP00000404503.1, ENST00000449228.5
  2. NM_001127241.3NP_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:12131
    PUMA; Bcl-2-binding component 3, p53 upregulated modulator of apoptosis
  3. NM_001127242.3NP_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
  4. NM_014417.5NP_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
    Q9BXH1
    Related
    ENSP00000395862.1, ENST00000439096.2
    Conserved Domains (1) summary
    pfam15826
    Location:2193
    PUMA; Bcl-2-binding component 3, p53 upregulated modulator of apoptosis

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20201120

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p13 Primary Assembly

    Range
    47220822..47232998 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006723141.3XP_006723204.1  bcl-2-binding component 3 isoform X2

    See identical proteins and their annotated locations for XP_006723204.1

    UniProtKB/Swiss-Prot
    Q9BXH1
    Conserved Domains (1) summary
    pfam15826
    Location:2193
    PUMA; Bcl-2-binding component 3, p53 upregulated modulator of apoptosis
  2. XM_011526722.2XP_011525024.1  bcl-2-binding component 3 isoform X1

    Conserved Domains (1) summary
    pfam15826
    Location:18209
    PUMA; Bcl-2-binding component 3, p53 upregulated modulator of apoptosis
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