Human Gene BNIP3 (uc001lkv.1)
  Description: Homo sapiens BCL2/adenovirus E1B 19kDa interacting protein 3 (BNIP3), nuclear gene encoding mitochondrial protein, mRNA.
RefSeq Summary (NM_004052): This gene is encodes a mitochondrial protein that contains a BH3 domain and acts as a pro-apoptotic factor. The encoded protein interacts with anti-apoptotic proteins, including the E1B 19 kDa protein and Bcl2. This gene is silenced in tumors by DNA methylation. [provided by RefSeq, Dec 2014].
Transcript (Including UTRs)
   Position: hg19 chr10:133,781,204-133,795,435 Size: 14,232 Total Exon Count: 6 Strand: -
Coding Region
   Position: hg19 chr10:133,782,028-133,795,310 Size: 13,283 Coding Exon Count: 6 

Page IndexSequence and LinksUniProtKB CommentsPrimersGenetic AssociationsMalaCards
CTDGene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein Structure
Other SpeciesGO AnnotationsmRNA DescriptionsOther NamesModel InformationMethods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr10:133,781,204-133,795,435)mRNA (may differ from genome)Protein (194 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
GeneNetworkH-INVHGNCHPRDLynxMalacards
MGIneXtProtOMIMPubMedTreefamUniProtKB
WikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: BNIP3_HUMAN
DESCRIPTION: RecName: Full=BCL2/adenovirus E1B 19 kDa protein-interacting protein 3;
FUNCTION: Apoptosis-inducing protein that can overcome BCL2 suppression. May play a role in repartitioning calcium between the two major intracellular calcium stores in association with BCL2. Involved in mitochondrial quality control via its interaction with SPATA18/MIEAP: in response to mitochondrial damage, participates to 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. Plays an important role in the calprotectin (S100A8/A9)-induced cell death pathway.
SUBUNIT: Homodimer. Binds to BCL2. Interacts with BNIP3L and ACAA2. Also can interact with adenovirus E1B 19 kDa protein or Epstein-Barr virus BHRF1. Interacts (via BH3 domain) with SPATA18 (via coiled-coil domains).
INTERACTION: Self; NbExp=2; IntAct=EBI-749464, EBI-749464; O60238:BNIP3L; NbExp=8; IntAct=EBI-749464, EBI-849893; O60313:OPA1; NbExp=10; IntAct=EBI-749464, EBI-1054131; P17152:TMEM11; NbExp=2; IntAct=EBI-749464, EBI-723946;
SUBCELLULAR LOCATION: Mitochondrion. Mitochondrion outer membrane; Single-pass membrane protein. Note=Coexpression with the EIB 19- kDa protein results in a shift in NIP3 localization pattern to the nuclear envelope. Colocalizes with ACAA2 in the mitochondria. Colocalizes with SPATA18 at the mitochondrion outer membrane.
SIMILARITY: Belongs to the NIP3 family.
WEB RESOURCE: Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/BNIP3ID822ch10q26.html";
WEB RESOURCE: Name=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/bnip3/";

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): BNIP3
CDC HuGE Published Literature: BNIP3
Positive Disease Associations: Breath Tests , Myocardial Infarction , Stroke
Related Studies:
  1. Breath Tests
    , , . [PubMed 0]
  2. Breath Tests
    , , . [PubMed 0]
  3. Myocardial Infarction
    , , . [PubMed 0]
           more ... click here to view the complete list

-  MalaCards Disease Associations
  MalaCards Gene Search: BNIP3
Diseases sorted by gene-association score: leiomyomatosis and renal cell cancer (3), neuronal ceroid lipofuscinosis (2), colorectal cancer (2), lacrimal gland adenocarcinoma (1)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 117.78 RPKM in Pancreas
Total median expression: 1228.16 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -46.00125-0.368 Picture PostScript Text
3' UTR -174.25824-0.211 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR010548 - BNIP3

Pfam Domains:
PF06553 - BNIP3

Protein Data Bank (PDB) 3-D Structure
MuPIT help
2J5D - NMR MuPIT 2KA1 - NMR MuPIT 2KA2 - NMR MuPIT


ModBase Predicted Comparative 3D Structure on Q12983
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologGenome BrowserGenome BrowserNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGDEnsembl   
 Protein SequenceProtein Sequence   
 AlignmentAlignment   

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005515 protein binding
GO:0042802 identical protein binding
GO:0042803 protein homodimerization activity
GO:0046982 protein heterodimerization activity
GO:0051020 GTPase binding

Biological Process:
GO:0000422 mitophagy
GO:0001666 response to hypoxia
GO:0006915 apoptotic process
GO:0008219 cell death
GO:0008626 granzyme-mediated apoptotic signaling pathway
GO:0010508 positive regulation of autophagy
GO:0010637 negative regulation of mitochondrial fusion
GO:0010659 cardiac muscle cell apoptotic process
GO:0010666 positive regulation of cardiac muscle cell apoptotic process
GO:0010821 regulation of mitochondrion organization
GO:0010917 negative regulation of mitochondrial membrane potential
GO:0010940 positive regulation of necrotic cell death
GO:0016032 viral process
GO:0016239 positive regulation of macroautophagy
GO:0021987 cerebral cortex development
GO:0035694 mitochondrial protein catabolic process
GO:0043065 positive regulation of apoptotic process
GO:0043066 negative regulation of apoptotic process
GO:0043068 positive regulation of programmed cell death
GO:0043243 positive regulation of protein complex disassembly
GO:0043653 mitochondrial fragmentation involved in apoptotic process
GO:0045837 negative regulation of membrane potential
GO:0046902 regulation of mitochondrial membrane permeability
GO:0048102 autophagic cell death
GO:0048709 oligodendrocyte differentiation
GO:0050873 brown fat cell differentiation
GO:0051402 neuron apoptotic process
GO:0051561 positive regulation of mitochondrial calcium ion concentration
GO:0051607 defense response to virus
GO:0055093 response to hyperoxia
GO:0060548 negative regulation of cell death
GO:0070301 cellular response to hydrogen peroxide
GO:0071260 cellular response to mechanical stimulus
GO:0071279 cellular response to cobalt ion
GO:0071456 cellular response to hypoxia
GO:0072593 reactive oxygen species metabolic process
GO:0090141 positive regulation of mitochondrial fission
GO:0090200 positive regulation of release of cytochrome c from mitochondria
GO:0097193 intrinsic apoptotic signaling pathway
GO:0097345 mitochondrial outer membrane permeabilization
GO:1901998 toxin transport
GO:1902109 negative regulation of mitochondrial membrane permeability involved in apoptotic process
GO:1903599 positive regulation of mitophagy
GO:1903715 regulation of aerobic respiration
GO:1990144 intrinsic apoptotic signaling pathway in response to hypoxia
GO:2000378 negative regulation of reactive oxygen species metabolic process

Cellular Component:
GO:0005634 nucleus
GO:0005635 nuclear envelope
GO:0005654 nucleoplasm
GO:0005737 cytoplasm
GO:0005739 mitochondrion
GO:0005740 mitochondrial envelope
GO:0005741 mitochondrial outer membrane
GO:0005783 endoplasmic reticulum
GO:0014069 postsynaptic density
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0030425 dendrite
GO:0031307 integral component of mitochondrial outer membrane
GO:0031966 mitochondrial membrane


-  Descriptions from all associated GenBank mRNAs
  BX647339 - Homo sapiens mRNA; cDNA DKFZp779L1016 (from clone DKFZp779L1016).
LF334098 - JP 2014500723-A/141601: Polycomb-Associated Non-Coding RNAs.
BC067818 - Homo sapiens BCL2/adenovirus E1B 19kDa interacting protein 3, mRNA (cDNA clone IMAGE:5299009), partial cds.
AK130264 - Homo sapiens cDNA FLJ26754 fis, clone PRS01891.
LF353490 - JP 2014500723-A/160993: Polycomb-Associated Non-Coding RNAs.
AF002697 - Homo sapiens E1B 19K/Bcl-2-binding protein Nip3 mRNA, nuclear gene encoding mitochondrial protein, complete cds.
HH837088 - Sequence 15 from Patent EP2231168.
HI214729 - Sequence 15 from Patent EP2076526.
HV601531 - JP 2011500003-A/15: Novel siRNA Structures.
HV708914 - JP 2012506450-A/12: Methods for treating eye disorders.
HV856604 - JP 2010507387-A/15: Novel siRNAs and Methods of Use Thereof.
HW061142 - JP 2012529430-A/17: METHODS FOR TREATING CHRONIC KIDNEY DISEASE.
HW165091 - JP 2013102767-A/15: Novel siRNA's and Use Thereof.
HW675599 - JP 2014210789-A/15: Novel siRNA Structures.
HW835287 - JP 2015051004-A/15: Novel siRNA's and Use Thereof.
JA482097 - Sequence 80 from Patent WO2011072091.
JA538130 - Sequence 15 from Patent EP2371958.
JB251950 - Sequence 17 from Patent EP2440214.
JE980389 - Sequence 80 from Patent EP2862929.
LF385517 - JP 2014500723-A/193020: Polycomb-Associated Non-Coding RNAs.
LP764849 - Sequence 17 from Patent EP3276004.
JD526066 - Sequence 507090 from Patent EP1572962.
JD473792 - Sequence 454816 from Patent EP1572962.
AK222626 - Homo sapiens mRNA for BCL2/adenovirus E1B 19kD-interacting protein 3 variant, clone: CBL04078.
JD303729 - Sequence 284753 from Patent EP1572962.
BC080643 - Homo sapiens BCL2/adenovirus E1B 19kDa interacting protein 3, mRNA (cDNA clone IMAGE:4592001), partial cds.
AK125699 - Homo sapiens cDNA FLJ43711 fis, clone TESOP2003273.
BC021989 - Homo sapiens BCL2/adenovirus E1B 19kDa interacting protein 3, mRNA (cDNA clone MGC:24394 IMAGE:4066029), complete cds.
BC009342 - Homo sapiens cDNA clone IMAGE:4128811.
JD100996 - Sequence 82020 from Patent EP1572962.
U15174 - Homo sapiens BCL2/adenovirus E1B 19kD-interacting protein 3 (BNIP3) mRNA, complete cds.
LF370451 - JP 2014500723-A/177954: Polycomb-Associated Non-Coding RNAs.
LF334093 - JP 2014500723-A/141596: Polycomb-Associated Non-Coding RNAs.
JD279610 - Sequence 260634 from Patent EP1572962.
HQ448726 - Synthetic construct Homo sapiens clone IMAGE:100072171; CCSB007547_01 BCL2/adenovirus E1B 19kDa interacting protein 3 (BNIP3) gene, encodes complete protein.
KJ896508 - Synthetic construct Homo sapiens clone ccsbBroadEn_05902 BNIP3 gene, encodes complete protein.
AB528671 - Synthetic construct DNA, clone: pF1KB6858, Homo sapiens BNIP3 gene for BCL2/adenovirus E1B 19kDa interacting protein 3, without stop codon, in Flexi system.
AK295136 - Homo sapiens cDNA FLJ60537 complete cds, highly similar to BCL2/adenovirus E1B 19 kDa protein-interacting protein 3.
LF370452 - JP 2014500723-A/177955: Polycomb-Associated Non-Coding RNAs.
CU692440 - Synthetic construct Homo sapiens gateway clone IMAGE:100017566 5' read BNIP3 mRNA.
LF353489 - JP 2014500723-A/160992: Polycomb-Associated Non-Coding RNAs.
LF334092 - JP 2014500723-A/141595: Polycomb-Associated Non-Coding RNAs.
LF370453 - JP 2014500723-A/177956: Polycomb-Associated Non-Coding RNAs.
LF353488 - JP 2014500723-A/160991: Polycomb-Associated Non-Coding RNAs.
LF370454 - JP 2014500723-A/177957: Polycomb-Associated Non-Coding RNAs.
LF334097 - JP 2014500723-A/141600: Polycomb-Associated Non-Coding RNAs.
JD192527 - Sequence 173551 from Patent EP1572962.
JD128821 - Sequence 109845 from Patent EP1572962.
MF593120 - Homo sapiens BCL2/adenovirus E1B interacting protein 3 (BNIP3) mRNA, complete cds, alternatively spliced.
MA621094 - JP 2018138019-A/193020: Polycomb-Associated Non-Coding RNAs.
MA606028 - JP 2018138019-A/177954: Polycomb-Associated Non-Coding RNAs.
MA606029 - JP 2018138019-A/177955: Polycomb-Associated Non-Coding RNAs.
MA606030 - JP 2018138019-A/177956: Polycomb-Associated Non-Coding RNAs.
MA606031 - JP 2018138019-A/177957: Polycomb-Associated Non-Coding RNAs.
MA569675 - JP 2018138019-A/141601: Polycomb-Associated Non-Coding RNAs.
MA589067 - JP 2018138019-A/160993: Polycomb-Associated Non-Coding RNAs.
MA569670 - JP 2018138019-A/141596: Polycomb-Associated Non-Coding RNAs.
MA589066 - JP 2018138019-A/160992: Polycomb-Associated Non-Coding RNAs.
MA569669 - JP 2018138019-A/141595: Polycomb-Associated Non-Coding RNAs.
MA589065 - JP 2018138019-A/160991: Polycomb-Associated Non-Coding RNAs.
MA569674 - JP 2018138019-A/141600: Polycomb-Associated Non-Coding RNAs.

-  Other Names for This Gene
  Alternate Gene Symbols: BNIP3_HUMAN, NIP3, NM_004052, NP_004043, O14620, Q12983, Q96GP0
UCSC ID: uc001lkv.1
RefSeq Accession: NM_004052
Protein: Q12983 (aka BNIP3_HUMAN)
CCDS: CCDS7663.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_004052.2
exon count: 6CDS single in 3' UTR: no RNA size: 1535
ORF size: 585CDS single in intron: no Alignment % ID: 99.80
txCdsPredict score: 1370.00frame shift in genome: no % Coverage: 99.93
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.