• Gene id: 27113

Gene Summary

• Gene Symbol: BBC3   Gene   UCSC   Ensembl
• Aliases: JFY-1, JFY1, PUMA
• Gene name: BCL2 binding component 3
• Alternate names: bcl-2-binding component 3, p53 up-regulated modulator of apoptosis, p53-upregulated modulator of apoptosis,
• Gene location: 19q13.32 (47232997: 47220821)     Exons: 7     NC_000019.10
• Gene summary(Entrez): 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
• OMIM: 605415

Protein Summary

• Protein general information: Q96PG8  
  • Name: Bcl 2 binding component 3, isoforms 3/4 (JFY 1) (p53 up regulated modulator of apoptosis)
  • Length: 261  
  • Mass: 26498
• Sequence:

  MKFGMGSAQACPCQVPRAASTTWVPCQICGPRERHGPRTPGGQLPGARRGPGPRRPAPLPARPPGALGSVLRPLR
  ARPGCRPRRPHPAARCLPLRPHRPTRRHRRPGGFPLAWGSPQPAPRPAPGRSSALALAGGAAPGVARAQRPGGSG
  GRSHPGGPGSPRGGGTVGPGDRGPAAADGGRPQRTVRAAETRGAAAAPPLTLEGPVQSHHGTPALTQGPQSPRDG
  AQLGACTRPVDVRDSGGRPLPPPDTLASAGDFLCTM

• Structural information:
  • Interpro: IPR031661  
  • STRING: ENSP00000404503
• Other Databases: GeneCards:  BBC3  Malacards:  BBC3
• Protein general information: Q9BXH1  
  
  Name: Bcl 2 binding component 3, isoforms 1/2 (JFY 1) (p53 up regulated modulator of apoptosis)
  
  Length: 193  Mass: 20532
  
  Tissue specificity: Ubiquitously expressed. {ECO
• Sequence: MARARQEGSSPEPVEGLARDGPRPFPLGRLVPSAVSCGLCEPGLAAAPAAPTLLPAAYLCAPTAPPAVTAALGGS
  RWPGGPRSRPRGPRPDGPQPSLSLAEQHLESPVPSAPGALAGGPTQAAPGVRGEEEQWAREIGAQLRRMADDLNA
  QYERRRQEEQQRHRPSPWRVLYNLIMGLLPLPRGHRAPEMEPN
• Structural information:

  Interpro:	IPR031661
  PDB:	2M04 4BPI 4BPJ 4BPK 4HNJ 5UUL 6QFM 6QG8
  PDBsum:	2M04 4BPI 4BPJ 4BPK 4HNJ 5UUL 6QFM 6QG8
  DIP:	29215
  MINT:

• Other Databases: GeneCards:  BBC3  Malacards:  BBC3

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005764	lysosome	IDA	colocalizes with
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0051117	ATPase binding	IPI	molecular function
GO:0006915	apoptotic process	IMP	biological process
GO:0005739	mitochondrion	TAS	cellular component
GO:0070059	intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress	IBA	biological process
GO:0043280	positive regulation of cysteine-type endopeptidase activity involved in apoptotic process	IBA	biological process
GO:0006919	activation of cysteine-type endopeptidase activity involved in apoptotic process	IBA	biological process
GO:2001056	positive regulation of cysteine-type endopeptidase activity	IBA	biological process
GO:1900740	positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway	IBA	biological process
GO:0097194	execution phase of apoptosis	IBA	biological process
GO:0090200	positive regulation of release of cytochrome c from mitochondria	IBA	biological process
GO:0043065	positive regulation of apoptotic process	IBA	biological process
GO:0005739	mitochondrion	IBA	cellular component
GO:0001836	release of cytochrome c from mitochondria	IBA	biological process
GO:2001244	positive regulation of intrinsic apoptotic signaling pathway	ISS	biological process
GO:2001244	positive regulation of intrinsic apoptotic signaling pathway	ISS	biological process
GO:0097193	intrinsic apoptotic signaling pathway	IEA	biological process
GO:0005739	mitochondrion	IEA	cellular component
GO:0043065	positive regulation of apoptotic process	IEA	biological process
GO:0090200	positive regulation of release of cytochrome c from mitochondria	IEA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa05200	Pathways in cancer
hsa05016	Huntington disease
hsa04390	Hippo signaling pathway
hsa04210	Apoptosis
hsa05162	Measles
hsa05210	Colorectal cancer
hsa04115	p53 signaling pathway
hsa01524	Platinum drug resistance
hsa04215	Apoptosis - multiple species

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 31037746
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray