• Gene id: 665

Gene Summary

• Gene Symbol: BNIP3L   Gene   UCSC   Ensembl
• Aliases: BNIP3a, NIX
• Gene name: BCL2 interacting protein 3 like
• Alternate names: BCL2/adenovirus E1B 19 kDa protein-interacting protein 3-like, BCL2/adenovirus E1B 19 kDa protein-interacting protein 3A, BCL2/adenovirus E1B 19-kd protein-interacting protein 3a, BCL2/adenovirus E1B 19kDa interacting protein 3 like, NIP-3-like protein X, NIP3,
• Gene location: 8p21.2 (26383053: 26413126)     Exons: 7     NC_000008.11
• Gene summary(Entrez): This gene encodes a protein that belongs to the pro-apoptotic subfamily within the Bcl-2 family of proteins. The encoded protein binds to Bcl-2 and possesses the BH3 domain. The protein directly targets mitochondria and causes apoptotic changes, including
• OMIM: 605368

SNPs

rs498422

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000006.12   g.32318984T>G
NC_000006.11   g.32286761T>G
NT_113891.3   g.3757457T>G
NT_113891.2   g.3757563T>G
NT_167248.2   g.3542362G>T
NT_167248.1   g.3547958G>T
NT_167245.2   g.3560446T>G
NT_167245.1   g.3566031T>G
NT_167249.2   g.3635248T>G
NT_167249.1   g.3634546

Protein Summary

• Protein general information: O60238  
  • Name: BCL2/adenovirus E1B 19 kDa protein interacting protein 3 like (Adenovirus E1B19K binding protein B5) (BCL2/adenovirus E1B 19 kDa protein interacting protein 3A) (NIP3 like protein X) (NIP3L)
  • Length: 219  
  • Mass: 23930
• Sequence:

  MSSHLVEPPPPLHNNNNNCEENEQSLPPPAGLNSSWVELPMNSSNGNDNGNGKNGGLEHVPSSSSIHNGDMEKIL
  LDAQHESGQSSSRGSSHCDSPSPQEDGQIMFDVEMHTSRDHSSQSEEEVVEGEKEVEALKKSADWVSDWSSRPEN
  IPPKEFHFRHPKRSVSLSMRKSGAMKKGGIFSAEFLKVFIPSLFLSHVLALGLGIYIGKRLSTPSASTY

• Structural information:
  • Interpro: IPR010548  
  • DIP: 35187
  • STRING: ENSP00000370003
• Other Databases: GeneCards:  BNIP3L  Malacards:  BNIP3L

Gene ontology

GO accession	Term name	Evidence code	Go category
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:0097345	mitochondrial outer membrane permeabilization	IBA	biological process
GO:0043067	regulation of programmed cell death	IBA	biological process
GO:0005741	mitochondrial outer membrane	IBA	cellular component
GO:0005635	nuclear envelope	IBA	cellular component
GO:0005634	nucleus	IBA	cellular component
GO:0051607	defense response to virus	IBA	biological process
GO:0005783	endoplasmic reticulum	IBA	cellular component
GO:0035694	mitochondrial protein catabolic process	IMP	biological process
GO:0005741	mitochondrial outer membrane	IMP	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005740	mitochondrial envelope	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0043065	positive regulation of apoptotic process	IEA	biological process
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0005741	mitochondrial outer membrane	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0006915	apoptotic process	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016032	viral process	IEA	biological process
GO:0071456	cellular response to hypoxia	IGI	biological process
GO:0060548	negative regulation of cell death	IGI	biological process
GO:0016239	positive regulation of macroautophagy	IGI	biological process
GO:0005741	mitochondrial outer membrane	TAS	cellular component
GO:0005741	mitochondrial outer membrane	TAS	cellular component
GO:0042981	regulation of apoptotic process	TAS	biological process
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical 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
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
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
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
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:0005739	mitochondrion	IEA	cellular component
GO:0042802	identical protein binding	IEA	molecular function
GO:0043065	positive regulation of apoptotic process	IEA	biological process
GO:1903214	regulation of protein targeting to mitochondrion	IEA	biological process
GO:0005739	mitochondrion	IEA	cellular component
GO:0035794	positive regulation of mitochondrial membrane permeability	IEA	biological process
GO:0043065	positive regulation of apoptotic process	IEA	biological process
GO:1903146	regulation of autophagy of mitochondrion	IEA	biological process
GO:0005829	cytosol	IEA	cellular component
GO:0010917	negative regulation of mitochondrial membrane potential	IEA	biological process
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005635	nuclear envelope	IEA	cellular component
GO:0005741	mitochondrial outer membrane	IEA	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:0016607	nuclear speck	IDA	cellular component
GO:0051607	defense response to virus	IDA	biological process
GO:0005521	lamin binding	IDA	molecular function
GO:0005635	nuclear envelope	IDA	cellular component
GO:0043066	negative regulation of apoptotic process	IDA	biological process
GO:0042803	protein homodimerization activity	IDA	molecular function
GO:0005783	endoplasmic reticulum	IDA	cellular component
GO:0043065	positive regulation of apoptotic process	IDA	biological process
GO:0005739	mitochondrion	IDA	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:0031224	intrinsic component of membrane	TAS	cellular component
GO:0005521	lamin 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
hsa04137	Mitophagy - animal

Diseases

Associated diseases	References
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)