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Aliases for BNIP3L Gene

Aliases for BNIP3L Gene

  • BCL2 Interacting Protein 3 Like 2 3 5
  • BCL2/Adenovirus E1B 19 KDa Protein-Interacting Protein 3A 3 4
  • BCL2/Adenovirus E1B 19kDa Interacting Protein 3 Like 2 3
  • NIP3-Like Protein X 3 4
  • BNIP3a 3 4
  • NIP3L 3 4
  • NIX 3 4
  • BCL2/Adenovirus E1B 19 KDa Protein-Interacting Protein 3-Like 3
  • BCL2/Adenovirus E1B 19-Kd Protein-Interacting Protein 3a 3
  • Adenovirus E1B19k-Binding Protein B5 3
  • Adenovirus E1B19K-Binding Protein B5 4
  • NIP‐3‐Like Protein X 2
  • BNIP3H 4

External Ids for BNIP3L Gene

Previous GeneCards Identifiers for BNIP3L Gene

  • GC08P026013
  • GC08P026594
  • GC08P026262
  • GC08P024785
  • GC08P026240

Summaries for BNIP3L Gene

Entrez Gene Summary for BNIP3L Gene

  • 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 loss of membrane potential and the release of cytochrome c. [provided by RefSeq, Feb 2015]

GeneCards Summary for BNIP3L Gene

BNIP3L (BCL2 Interacting Protein 3 Like) is a Protein Coding gene. Diseases associated with BNIP3L include Glossopharyngeal Neuralgia. Among its related pathways are Mitophagy - animal and Gene Expression. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and protein heterodimerization activity. An important paralog of this gene is BNIP3.

UniProtKB/Swiss-Prot for BNIP3L Gene

  • Induces apoptosis. Interacts with viral and cellular anti-apoptosis proteins. Can overcome the suppressors BCL-2 and BCL-XL, although high levels of BCL-XL expression will inhibit apoptosis. Inhibits apoptosis induced by BNIP3. Involved in mitochondrial quality control via its interaction with SPATA18/MIEAP: in response to mitochondrial damage, participates in mitochondrial protein catabolic process (also named MALM) leading to the degradation of damaged proteins inside mitochondria. The physical interaction of SPATA18/MIEAP, BNIP3 and BNIP3L/NIX at the mitochondrial outer membrane regulates the opening of a pore in the mitochondrial double membrane in order to mediate the translocation of lysosomal proteins from the cytoplasm to the mitochondrial matrix. May function as a tumor suppressor.

Gene Wiki entry for BNIP3L Gene

Additional gene information for BNIP3L Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for BNIP3L Gene

Genomics for BNIP3L Gene

GeneHancer (GH) Regulatory Elements for BNIP3L Gene

Promoters and enhancers for BNIP3L Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH08I026382 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 550.8 +1.2 1242 4.1 HDGF PKNOX1 FOXA2 SMAD1 MLX ARNT ARID4B SIN3A DMAP1 ZNF2 SDAD1P1 BNIP3L ENSG00000253430
GH08I026447 Enhancer 1.8 FANTOM5 Ensembl ENCODE dbSUPER 11.2 +67.6 67587 5.4 HDGF PKNOX1 CLOCK NEUROD1 SIN3A FOS SP3 NFYC ZNF610 SMARCA4 SDAD1P1 PNMA2 DPYSL2 BNIP3L LOC105379337
GH08I026329 Enhancer 1.3 Ensembl ENCODE dbSUPER 11 -52.2 -52214 3.1 FOXA2 ARID4B ETS1 ATF7 FOS SP5 MIER2 KAT8 NFIL3 ATF4 SDAD1P1 PPP2R2A ENSG00000253476 BNIP3L DPYSL2 PNMA2 GC08M026286
GH08I026436 Enhancer 1 Ensembl ENCODE 11.3 +56.8 56814 6.2 HDAC1 PKNOX1 ATF1 RB1 FEZF1 ZBTB40 BATF RAD21 DNMT3B ARID2 LOC105379337 SDAD1P1 PNMA2 DPYSL2 BNIP3L LOC100289047
GH08I026403 Enhancer 0.8 Ensembl ENCODE 11.3 +22.0 22019 2 FOSL1 ZNF316 TEAD4 MAFG NFE2 MAFK EMSY EP300 SDAD1P1 BNIP3L PNMA2 DPYSL2 ENSG00000253430
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around BNIP3L on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the BNIP3L gene promoter:

Genomic Locations for BNIP3L Gene

Genomic Locations for BNIP3L Gene
chr8:26,382,898-26,505,636
(GRCh38/hg38)
Size:
122,739 bases
Orientation:
Plus strand
chr8:26,240,414-26,363,152
(GRCh37/hg19)

Genomic View for BNIP3L Gene

Genes around BNIP3L on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
BNIP3L Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for BNIP3L Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for BNIP3L Gene

Proteins for BNIP3L Gene

  • Protein details for BNIP3L Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O60238-BNI3L_HUMAN
    Recommended name:
    BCL2/adenovirus E1B 19 kDa protein-interacting protein 3-like
    Protein Accession:
    O60238
    Secondary Accessions:
    • B0AZS9
    • Q5JW63
    • Q8NF87

    Protein attributes for BNIP3L Gene

    Size:
    219 amino acids
    Molecular mass:
    23930 Da
    Quaternary structure:
    • Self-associates. Interacts with BNIP3 and STEAP3. Interacts with human adenovirus-2 E1B 19 kDa protein. Interacts (via BH3 domain) with SPATA18 (via coiled-coil domains).
    SequenceCaution:
    • Sequence=CAI46217.1; Type=Erroneous termination; Positions=122; Note=Translated as Glu.; Evidence={ECO:0000305};

    Alternative splice isoforms for BNIP3L Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for BNIP3L Gene

Post-translational modifications for BNIP3L Gene

  • Undergoes progressive proteolysis to an 11 kDa C-terminal fragment, which is blocked by the proteasome inhibitor lactacystin.
  • Ubiquitination at posLast=154154
  • Modification sites at PhosphoSitePlus

Other Protein References for BNIP3L Gene

No data available for DME Specific Peptides for BNIP3L Gene

Domains & Families for BNIP3L Gene

Gene Families for BNIP3L Gene

Human Protein Atlas (HPA):
  • Cancer-related genes
  • Predicted membrane proteins
  • Transporters

Protein Domains for BNIP3L Gene

InterPro:
Blocks:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

O60238

UniProtKB/Swiss-Prot:

BNI3L_HUMAN :
  • Belongs to the NIP3 family.
Family:
  • Belongs to the NIP3 family.
genes like me logo Genes that share domains with BNIP3L: view

Function for BNIP3L Gene

Molecular function for BNIP3L Gene

GENATLAS Biochemistry:
BCL2/adenovirus E1B,interacting 3-like,proapoptotic,inhibiting growth of cancer cells,widely expressed (see TSG8A) and expressed in target of the mitochondria,when inducing apoptosis
UniProtKB/Swiss-Prot Function:
Induces apoptosis. Interacts with viral and cellular anti-apoptosis proteins. Can overcome the suppressors BCL-2 and BCL-XL, although high levels of BCL-XL expression will inhibit apoptosis. Inhibits apoptosis induced by BNIP3. Involved in mitochondrial quality control via its interaction with SPATA18/MIEAP: in response to mitochondrial damage, participates in mitochondrial protein catabolic process (also named MALM) leading to the degradation of damaged proteins inside mitochondria. The physical interaction of SPATA18/MIEAP, BNIP3 and BNIP3L/NIX at the mitochondrial outer membrane regulates the opening of a pore in the mitochondrial double membrane in order to mediate the translocation of lysosomal proteins from the cytoplasm to the mitochondrial matrix. May function as a tumor suppressor.

Phenotypes From GWAS Catalog for BNIP3L Gene

Gene Ontology (GO) - Molecular Function for BNIP3L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 9973195
GO:0005521 lamin binding IPI 10381623
GO:0042802 identical protein binding IPI 10381623
GO:0042803 protein homodimerization activity IDA 10381623
GO:0046982 protein heterodimerization activity IDA 10381623
genes like me logo Genes that share ontologies with BNIP3L: view
genes like me logo Genes that share phenotypes with BNIP3L: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for BNIP3L Gene

Localization for BNIP3L Gene

Subcellular locations from UniProtKB/Swiss-Prot for BNIP3L Gene

Nucleus envelope. Endoplasmic reticulum. Mitochondrion outer membrane. Membrane; Single-pass membrane protein. Note=Colocalizes with SPATA18 at the mitochondrion outer membrane.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for BNIP3L gene
Compartment Confidence
mitochondrion 5
nucleus 5
endoplasmic reticulum 5
cytosol 4
plasma membrane 1
extracellular 1
peroxisome 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Mitochondria (4)
  • Nuclear speckles (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for BNIP3L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005635 nuclear envelope IEA,IDA 10381623
GO:0005739 mitochondrion IEA,IDA 9973195
GO:0005740 mitochondrial envelope IEA --
GO:0005741 mitochondrial outer membrane TAS --
genes like me logo Genes that share ontologies with BNIP3L: view

Pathways & Interactions for BNIP3L Gene

genes like me logo Genes that share pathways with BNIP3L: view

Pathways by source for BNIP3L Gene

Gene Ontology (GO) - Biological Process for BNIP3L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006915 apoptotic process IEA --
GO:0010917 negative regulation of mitochondrial membrane potential IEA --
GO:0016032 viral process IEA --
GO:0016239 positive regulation of macroautophagy IGI 19273585
GO:0035694 mitochondrial protein catabolic process IMP 21264228
genes like me logo Genes that share ontologies with BNIP3L: view

No data available for SIGNOR curated interactions for BNIP3L Gene

Drugs & Compounds for BNIP3L Gene

No Compound Related Data Available

Transcripts for BNIP3L Gene

Unigene Clusters for BNIP3L Gene

BCL2/adenovirus E1B 19kDa interacting protein 3-like:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for BNIP3L Gene

No ASD Table

Relevant External Links for BNIP3L Gene

GeneLoc Exon Structure for
BNIP3L
ECgene alternative splicing isoforms for
BNIP3L

Expression for BNIP3L Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for BNIP3L Gene

Protein differential expression in normal tissues from HIPED for BNIP3L Gene

This gene is overexpressed in Adrenal (27.6) and Nasal epithelium (25.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for BNIP3L Gene



NURSA nuclear receptor signaling pathways regulating expression of BNIP3L Gene:

BNIP3L

SOURCE GeneReport for Unigene cluster for BNIP3L Gene:

Hs.131226

Evidence on tissue expression from TISSUES for BNIP3L Gene

  • Nervous system(5)
  • Blood(4.6)
  • Bone marrow(4.4)
  • Kidney(4.4)
  • Liver(4.4)
  • Skin(4.3)
  • Heart(2.4)
  • Lung(2.3)
  • Muscle(2.3)
  • Intestine(2.1)
genes like me logo Genes that share expression patterns with BNIP3L: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for BNIP3L Gene

Orthologs for BNIP3L Gene

This gene was present in the common ancestor of chordates.

Orthologs for BNIP3L Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia BNIP3L 33 34
  • 99.85 (n)
dog
(Canis familiaris)
Mammalia -- 34
  • 96 (a)
OneToMany
BNIP3L 33
  • 94.05 (n)
-- 34
  • 92 (a)
OneToMany
-- 34
  • 91 (a)
OneToMany
cow
(Bos Taurus)
Mammalia BNIP3L 33 34
  • 91.78 (n)
mouse
(Mus musculus)
Mammalia Bnip3l 33 34
  • 91.09 (n)
Bnip3l-ps 16
rat
(Rattus norvegicus)
Mammalia Bnip3l 33
  • 90.32 (n)
oppossum
(Monodelphis domestica)
Mammalia BNIP3L 34
  • 87 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia BNIP3L 34
  • 60 (a)
OneToOne
chicken
(Gallus gallus)
Aves BNIP3L 33 34
  • 81.48 (n)
lizard
(Anolis carolinensis)
Reptilia BNIP3L 34
  • 76 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia bnip3l 33
  • 77.36 (n)
Str.1479 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.19770 33
zebrafish
(Danio rerio)
Actinopterygii bnip3la 33 34
  • 68.99 (n)
bnip3lb 34
  • 60 (a)
OneToMany
wufb52b03 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.1851 33
sea squirt
(Ciona savignyi)
Ascidiacea CSA.3722 34
  • 25 (a)
OneToMany
Species where no ortholog for BNIP3L was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for BNIP3L Gene

ENSEMBL:
Gene Tree for BNIP3L (if available)
TreeFam:
Gene Tree for BNIP3L (if available)

Paralogs for BNIP3L Gene

Paralogs for BNIP3L Gene

(1) SIMAP similar genes for BNIP3L Gene using alignment to 5 proteins:

genes like me logo Genes that share paralogs with BNIP3L: view

Variants for BNIP3L Gene

Sequence variations from dbSNP and Humsavar for BNIP3L Gene

SNP ID Clin Chr 08 pos Variation AA Info Type
rs1000014681 -- 26,412,582(+) A/T 3_prime_UTR_variant
rs1000074983 -- 26,383,626(+) G/A genic_upstream_transcript_variant, intron_variant
rs1000174677 -- 26,393,021(+) T/C intron_variant
rs1000190166 -- 26,389,358(+) T/C genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant
rs1000368597 -- 26,381,651(+) T/C upstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for BNIP3L Gene

Variant ID Type Subtype PubMed ID
esv3572648 CNV loss 25503493
esv3616666 OTHER inversion 21293372
nsv824580 CNV gain 20364138
nsv831273 CNV loss 17160897

Variation tolerance for BNIP3L Gene

Residual Variation Intolerance Score: 29.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.49; 10.65% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for BNIP3L Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
BNIP3L

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for BNIP3L Gene

Disorders for BNIP3L Gene

MalaCards: The human disease database

(1) MalaCards diseases for BNIP3L Gene - From: DISEASES

Disorder Aliases PubMed IDs
glossopharyngeal neuralgia
  • glossovasopharyngeal neuralgia
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for BNIP3L

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with BNIP3L: view

No data available for UniProtKB/Swiss-Prot and Genatlas for BNIP3L Gene

Publications for BNIP3L Gene

  1. Isolation, mapping, and functional analysis of a novel human cDNA (BNIP3L) encoding a protein homologous to human NIP3. (PMID: 9523198) Matsushima M … Nakamura Y (Genes, chromosomes & cancer 1998) 2 3 4 22 58
  2. The proapoptotic factor Nix is coexpressed with Bcl-xL during terminal erythroid differentiation. (PMID: 12663450) Aerbajinai W … Miller JL (Blood 2003) 3 4 22 58
  3. Nix and Nip3 form a subfamily of pro-apoptotic mitochondrial proteins. (PMID: 9867803) Chen G … Greenberg A (The Journal of biological chemistry 1999) 3 4 22 58
  4. Mieap, a p53-inducible protein, controls mitochondrial quality by repairing or eliminating unhealthy mitochondria. (PMID: 21264228) Kitamura N … Arakawa H (PloS one 2011) 3 4 58
  5. MicroRNA-related genetic variations as predictors for risk of second primary tumor and/or recurrence in patients with early-stage head and neck cancer. (PMID: 20819778) Zhang X … Wu X (Carcinogenesis 2010) 3 44 58

Products for BNIP3L Gene

Sources for BNIP3L Gene

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