BBC3 - BCL2 binding component 3 Gene

Homo sapiens

Also known as JFY1; PUMA; JFY-1

Gene ID: 27113 | Gene type: protein coding

About BBC3

Cytogenetic location: 19q13.32 Genomic coordinates (GRCh38): 19:47,220,824-47,232,860 (from NCBI)

This gene has 6 transcripts (splice variants) and 56 orthologues. Ubiquitous expression in colon (RPKM 3.5), stomach (RPKM 1.4) and 24 other tissues.

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]

BBC3 Products(4)

mRNA	Protein	Name
NM_001127240.3	NP_001120712.1	bcl-2-binding component 3 isoform 1
NM_001127241.3	NP_001120713.1	bcl-2-binding component 3 isoform 2
NM_001127242.3	NP_001120714.1	bcl-2-binding component 3 isoform 3
NM_014417.5	NP_055232.1	bcl-2-binding component 3 isoform 4

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables ATPase binding	IPI IPI: Inferred from physical interaction	26212789	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	11463391	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in activation of cysteine-type endopeptidase activity involved in apoptotic process	IDA IDA: Inferred from direct assay	11463392	GOA
involved in apoptotic process	IMP IMP: Inferred from mutant phenotype	26212789	GOA
involved in apoptotic signaling pathway	IDA IDA: Inferred from direct assay	11463392	GOA
involved in cellular response to hypoxia	IEP IEP: Inferred from expression pattern	20810912	GOA
involved in execution phase of apoptosis	IDA IDA: Inferred from direct assay	11463391	GOA
involved in intrinsic apoptotic signaling pathway	IDA IDA: Inferred from direct assay	17024184	GOA
involved in intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress	IDA IDA: Inferred from direct assay	16407291	GOA
involved in negative regulation of growth	IMP IMP: Inferred from mutant phenotype	11463392	GOA
involved in positive regulation of intrinsic apoptotic signaling pathway	IMP IMP: Inferred from mutant phenotype	17289999	GOA
involved in positive regulation of protein-containing complex assembly	IDA IDA: Inferred from direct assay	21041309	GOA
involved in positive regulation of release of cytochrome c from mitochondria	IGI IGI: Inferred from genetic interaction	21041309	GOA
involved in release of cytochrome c from mitochondria	IDA IDA: Inferred from direct assay	11463392	GOA
involved in response to endoplasmic reticulum stress	IDA IDA: Inferred from direct assay	22761832	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
colocalizes with lysosome	IDA IDA: Inferred from direct assay	26212789	GOA
located in mitochondrion	IDA IDA: Inferred from direct assay	11463391	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

Protein Preferred Names

Protein Names

bcl-2-binding component 3

p53 up-regulated modulator of apoptosis

Related Diseases

Diseases

Alias

Colorectal Cancer

Colon Cancer	Colorectal Carcinoma
Colon Carcinoma	Colorectal Cancer, Susceptibility To
Carcinoma Of Colon	CRC
Colorectal Cancer With Chromosomal Instability, Somatic	Colon Cancer, Somatic
Colon Cancer, Susceptibility To	Colonic Neoplasms
Colorectal Neoplasms	Colorectal Cancer, Somatic
Colon Cancer, Advanced, Somatic	Colonic Carcinoma
Colorectal Carcinomas	Colon Cancers
Colorectal Cancers	Cancer, Colorectal, Somatic
Cancer, Colon	Cancer, Colorectal, Susceptibility To
Colorectal Neoplasm	Colonic Neoplasm
Malignant Tumor Of Colon

Prostate Cancer

Prostate Carcinoma	Prostate Cancer, Familial
Prostate Neoplasm	Prostate Cancer, Somatic
Prostate Cancer, Susceptibility To	Prostatic Cancer
Prostatic Neoplasms	Hereditary Prostate Cancer
Prostatic Neoplasm	Cancer Of Prostate
Carcinoma Of Prostate	Familial Prostate Cancer
Familial Prostate Carcinoma	Malignant Tumor Of Prostate
Malignant Neoplasm Of Prostate	Prostate Cancer, Familial, Susceptibility To
Malignant Tumor Of The Prostate	Ngp - New Growth Of Prostate
Tumor Of The Prostate	Prostate Cancer, Hereditary
Cancer Of The Prostate	Malignant Neoplasm Of The Prostate
Prostatic Carcinoma	PC
Prca	Cancer, Prostate
Malignant Prostatic Tumour	Malignant Tumour Of Prostate
Primary Prostate Cancer	Primary Malignant Neoplasm Of Prostate
Prostate Gland Cancer

Myeloma, Multiple

Multiple Myeloma	Plasma Cell Myeloma
Kahler Disease	Myelomatosis
Medullary Plasmacytoma	Multiple Myeloma, Resistance To
Myeloma	Plasma Cell Dyscrasia
Kahler'S Disease	Multiple Myeloma, Susceptibility To
Myeloma - Multiple	Kahler-Bozzolo Disease
Plasma Cell Myelomas	MM
Plasma Cell Neoplasm	Primary Systemic Amyloidosis
Primary Amyloidosis	Immunoglobulin Deposition Disease
Plasmacytic Myeloma	Multiple Myelomata
Multiple Myeloma Nos	Multiple Myeloma Without Mention Of Remission
Monostotic Plasma Cell Myeloma	Mm - [Multiple Myeloma]

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS01381	BBC3 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	BBC3	MGD	MGI:2181667
Rattus norvegicus	BBC3	RGD	RGD:631434

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