Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
27113
Gene name Gene Name - the full gene name approved by the HGNC.
BCL2 binding component 3
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
BBC3
Synonyms (NCBI Gene) Gene synonyms aliases
JFY-1, JFY1, PUMA
Chromosome Chromosome number
19
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
19q13.32
Summary Summary of gene provided in NCBI Entrez Gene.
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
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT004500 hsa-miR-483-3p qRT-PCR, Luciferase reporter assay, Western blot, Northern blot 20388800
MIRT003367 hsa-miR-221-3p Immunohistochemistry, In situ hybridization, Luciferase reporter assay, Northern blot, Western blot 20813046
MIRT005369 hsa-miR-222-3p Immunohistochemistry, In situ hybridization, Luciferase reporter assay, Northern blot, Western blot 20813046
MIRT005915 hsa-miR-125b-5p Luciferase reporter assay, qRT-PCR, Western blot 20886540
MIRT006683 hsa-miR-296-5p Luciferase reporter assay, qRT-PCR, Western blot 21633093
Transcription factors
Transcription factor Regulation Reference
CTCF Unknown 20818159
E2F1 Activation 17263886
ETV6 Activation 16828711
FOXO3 Unknown 21654193
TCF3 Repression 23684607
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0001836 Process Release of cytochrome c from mitochondria IBA 21873635
GO:0005515 Function Protein binding IPI 26212789, 32296183
GO:0005739 Component Mitochondrion IBA 21873635
GO:0005739 Component Mitochondrion TAS 26212789
GO:0005764 Component Lysosome IDA 26212789
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
605854 17868 ENSG00000105327
Protein
UniProt ID Q96PG8
Protein name Bcl-2-binding component 3, isoforms 3/4 (JFY-1) (p53 up-regulated modulator of apoptosis)
Protein function [Isoform 3]: Does not affect cell growth.
Family and domains
Sequence
MKFGMGSAQACPCQVPRAASTTWVPCQICGPRERHGPRTPGGQLPGARRGPGPRRPAPLP
ARPPGALGSVLRPLRARPGCRPRRPHPAARCLPLRPHRPTRRHRRPGGFPLAWGSPQPAP
RPAPGRSSALALAGGAAPGVARAQRPGGSGGRSHPGGPGSPRGGGTVGPGDRGPAAADGG
RPQRTVRAAETRGAAAAPPLTLEGPVQSHHGTPALTQGPQSPRDGAQLGACTRPVDVRDS
GGRPLPPPDTLASAGDFLCTM
Sequence length 261
UniProt ID Q9BXH1
Protein name Bcl-2-binding component 3, isoforms 1/2 (JFY-1) (p53 up-regulated modulator of apoptosis)
Protein function Essential mediator of p53/TP53-dependent and p53/TP53-independent apoptosis (PubMed:11463391, PubMed:23340338). Promotes partial unfolding of BCL2L1 and dissociation of BCL2L1 from p53/TP53, releasing the bound p53/TP53 to induce apoptosis (PubM
PDB 2M04 , 4BPI , 4BPJ , 4BPK , 4HNJ , 5UUL , 6QFM , 6QG8 , 6TQP , 7DVD , 7P0S , 7P9W , 7QTX
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF15826 PUMA 2 193 Bcl-2-binding component 3, p53 upregulated modulator of apoptosis Family
Tissue specificity TISSUE SPECIFICITY: Ubiquitously expressed. {ECO:0000269|PubMed:11463391}.
Sequence
Sequence length 193
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Platinum drug resistance
p53 signaling pathway
Apoptosis
Apoptosis - multiple species
Hippo signaling pathway
Huntington disease
Measles
Pathways in cancer
Colorectal cancer
  BH3-only proteins associate with and inactivate anti-apoptotic BCL-2 members
Activation of PUMA and translocation to mitochondria
TP53 Regulates Transcription of Genes Involved in Cytochrome C Release
FOXO-mediated transcription of cell death genes
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Burkitt`s lymphoma Burkitt Lymphoma, Burkitt Leukemia rs28933407, rs121918683, rs121918684 18573879
Esophagus neoplasm Esophageal Neoplasms, Malignant neoplasm of esophagus rs28934578, rs121918714, rs1567556006, rs1575166666 16481741
Unknown
Disease term Disease name Evidence References Source
Alzheimer disease Alzheimer disease GWAS
Associations from Text Mining
Disease Name Relationship Type References
Adenocarcinoma Stimulate 35135489
Adrenocortical Carcinoma Associate 21859927
Arthritis Rheumatoid Associate 16447235
Arthritis Rheumatoid Stimulate 40141133
Breast Neoplasms Associate 15756011, 20431602, 24073403, 26273641, 28099441, 34587475
Breast Neoplasms Stimulate 19934289
Burkitt Lymphoma Associate 26431330, 28960205
Carcinoma Associate 28692117
Carcinoma Adenoid Cystic Associate 28277192
Carcinoma Hepatocellular Associate 25635973, 29693134, 34123711