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    BNIP3L BCL2 interacting protein 3 like [ Homo sapiens (human) ]

    Gene ID: 665, updated on 27-Nov-2024

    Summary

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    Official Symbol
    BNIP3Lprovided by HGNC
    Official Full Name
    BCL2 interacting protein 3 likeprovided by HGNC
    Primary source
    HGNC:HGNC:1085
    See related
    Ensembl:ENSG00000104765 MIM:605368; AllianceGenome:HGNC:1085
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    NIX; NIP3L; BNIP3a
    Summary
    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]
    Expression
    Ubiquitous expression in fat (RPKM 69.4), ovary (RPKM 49.9) and 24 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See BNIP3L in Genome Data Viewer
    Location:
    8p21.2
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (26383054..26413127)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (26659614..26689692)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (26240570..26270643)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19038 Neighboring gene protein phosphatase 2 regulatory subunit Balpha Neighboring gene Sharpr-MPRA regulatory region 13890 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:26192157-26192656 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr8:26239047-26240246 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27126 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19039 Neighboring gene Sharpr-MPRA regulatory region 12075 Neighboring gene SDA1 domain containing 1 pseudogene 1 Neighboring gene GATA motif-containing MPRA enhancer 260 Neighboring gene Sharpr-MPRA regulatory region 1267 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27127 Neighboring gene DNAJB6 pseudogene 2 Neighboring gene vegetative cell wall protein gp1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19040 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19041 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19042

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Association between BCL2 interacting protein 3 like (BNIP3L) genetic polymorphisms and the risk of multiple myeloma in China. Wang Q, et al. Hematology, 2024 Dec. PMID 38934722
    2. Isolation, mapping, and functional analysis of a novel human cDNA (BNIP3L) encoding a protein homologous to human NIP3. Matsushima M, et al. Genes Chromosomes Cancer, 1998 Mar. PMID 9523198
    3. The proapoptotic factor Nix is coexpressed with Bcl-xL during terminal erythroid differentiation. Aerbajinai W, et al. Blood, 2003 Jul 15. PMID 12663450
    4. [Expression and structure of BNIP3L in lung cancer]. Sun JL, et al. Ai Zheng, 2004 Jan. PMID 14720367
    5. Molecular signalling towards mitochondrial breakdown is enhanced in skeletal muscle of patients with chronic obstructive pulmonary disease (COPD). Leermakers PA, et al. Sci Rep, 2018 Oct 9. PMID 30302028, Free PMC Article

    See all (101) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. PPTC7 antagonizes mitophagy by promoting BNIP3 and NIX degradation via SCF[FBXL4].
      Title: PPTC7 antagonizes mitophagy by promoting BNIP3 and NIX degradation via SCF(FBXL4).
    2. CTCF and BORIS-mediated autophagy regulation via alternative splicing of BNIP3L in breast cancer.
      Title: CTCF and BORIS-mediated autophagy regulation via alternative splicing of BNIP3L in breast cancer.
    3. Association between BCL2 interacting protein 3 like (BNIP3L) genetic polymorphisms and the risk of multiple myeloma in China.
      Title: Association between BCL2 interacting protein 3 like (BNIP3L) genetic polymorphisms and the risk of multiple myeloma in China.
    4. Mitophagy mediated by BNIP3 and NIX protects against ferroptosis by downregulating mitochondrial reactive oxygen species.
      Title: Mitophagy mediated by BNIP3 and NIX protects against ferroptosis by downregulating mitochondrial reactive oxygen species.
    5. Excessive BNIP3- and BNIP3L-dependent mitophagy underlies the pathogenesis of FBXL4-mutated mitochondrial DNA depletion syndrome.
      Title: Excessive BNIP3- and BNIP3L-dependent mitophagy underlies the pathogenesis of FBXL4-mutated mitochondrial DNA depletion syndrome.
    6. Uncovering interactions of mitochondrial proteins BNIP3 and BNIP3L with necroptosis-associated kinase RIPK3: Insights into kinase activation.
      Title: Uncovering interactions of mitochondrial proteins BNIP3 and BNIP3L with necroptosis-associated kinase RIPK3: Insights into kinase activation.
    7. FBXL4 ubiquitin ligase deficiency promotes mitophagy by elevating NIX levels.
      Title: FBXL4 ubiquitin ligase deficiency promotes mitophagy by elevating NIX levels.
    8. The outer mitochondrial membrane protein TMEM11 demarcates spatially restricted BNIP3/BNIP3L-mediated mitophagy.
      Title: The outer mitochondrial membrane protein TMEM11 demarcates spatially restricted BNIP3/BNIP3L-mediated mitophagy.
    9. Mitophagy Effects of Protodioscin on Human Osteosarcoma Cells by Inhibition of p38MAPK Targeting NIX/LC3 Axis.
      Title: Mitophagy Effects of Protodioscin on Human Osteosarcoma Cells by Inhibition of p38MAPK Targeting NIX/LC3 Axis.
    10. BNIP3 and Nix: Atypical regulators of cell fate.
      Title: BNIP3 and Nix: Atypical regulators of cell fate.
    Submit: New GeneRIF Correction See all GeneRIFs (47)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables lamin binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables lamin binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein homodimerization activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    acts_upstream_of_or_within cellular response to hypoxia IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    involved_in defense response to virus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in defense response to virus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in mitochondrial outer membrane permeabilization IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in mitochondrial protein catabolic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in negative regulation of apoptotic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in negative regulation of mitochondrial membrane potential IEA
    Inferred from Electronic Annotation
    more info
    		  
    acts_upstream_of_or_within negative regulation of programmed cell death IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    involved_in positive regulation of apoptotic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    acts_upstream_of_or_within positive regulation of macroautophagy IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    involved_in regulation of mitophagy IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of programmed cell death IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in regulation of protein targeting to mitochondrion IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    is_active_in endoplasmic reticulum IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in membrane TAS
    Traceable Author Statement
    more info
    		 PubMed 
    is_active_in mitochondrial outer membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in mitochondrial outer membrane IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    located_in mitochondrial outer membrane TAS
    Traceable Author Statement
    more info
    		  
    located_in mitochondrion HTP PubMed 
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in nuclear envelope IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nuclear envelope IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nuclear speck IDA
    Inferred from Direct Assay
    more info
    		  
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    BCL2/adenovirus E1B 19 kDa protein-interacting protein 3-like
    Names
    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-like protein X
    adenovirus E1B19k-binding protein B5

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001330491.2 → NP_001317420.1  BCL2/adenovirus E1B 19 kDa protein-interacting protein 3-like isoform 2

      Status: REVIEWED

      Source sequence(s)
      AC011726, AK316315, BG942896
      Consensus CDS
      CCDS83267.1
      UniProtKB/TrEMBL
      H0YBC7
      Related
      ENSP00000429851.1, ENST00000518611.5
      Conserved Domains (1) summary
      pfam06553
      Location:17 → 178
      BNIP3

    2. NM_004331.3 → NP_004322.1  BCL2/adenovirus E1B 19 kDa protein-interacting protein 3-like isoform 1

      Status: REVIEWED

      Source sequence(s)
      AA946755, AB004788, AF536326, AL132665, BF337139, BQ719112, CD244492, CD558918
      Consensus CDS
      CCDS6050.1
      UniProtKB/Swiss-Prot
      B0AZS9, O60238, Q5JW63, Q8NF87
      UniProtKB/TrEMBL
      Q6IBV1, Q9H3K3
      Related
      ENSP00000370003.2, ENST00000380629.7
      Conserved Domains (1) summary
      pfam06553
      Location:28 → 218
      BNIP3; BNIP3

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000008.11 Reference GRCh38.p14 Primary Assembly

      Range
      26383054..26413127
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060932.1 Alternate T2T-CHM13v2.0

      Range
      26659614..26689692
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O60238.1 GenPept UniProtKB/Swiss-Prot:O60238

    Gene LinkOut

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