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

Summary

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

Location:: 8p21.2

Exon count:: 7

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	8	NC_000008.11 (26383054..26413127)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	8	NC_060932.1 (26659614..26689692)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	8	NC_000008.10 (26240570..26270643)

Chromosome 8 - NC_000008.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
FBXL4 ubiquitin ligase deficiency promotes mitophagy by elevating NIX levels.
Title: FBXL4 ubiquitin ligase deficiency promotes mitophagy by elevating NIX levels.
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.
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.
BNIP3 and Nix: Atypical regulators of cell fate.
Title: BNIP3 and Nix: Atypical regulators of cell fate.
BNIP3L/Nix-induced mitochondrial fission, mitophagy, and impaired myocyte glucose uptake are abrogated by PRKA/PKA phosphorylation.
Title: BNIP3L/Nix-induced mitochondrial fission, mitophagy, and impaired myocyte glucose uptake are abrogated by PRKA/PKA phosphorylation.
A brief overview of BNIP3L/NIX receptor-mediated mitophagy.
Title: A brief overview of BNIP3L/NIX receptor-mediated mitophagy.
NIX initiates mitochondrial fragmentation via DRP1 to drive epidermal differentiation.
Title: NIX initiates mitochondrial fragmentation via DRP1 to drive epidermal differentiation.
Expression and Clinical Significance of BCL2 Interacting Protein 3 Like in Multiple Myeloma.
Title: Expression and Clinical Significance of BCL2 Interacting Protein 3 Like in Multiple Myeloma.

Submit: New GeneRIF Correction See all GeneRIFs (43)

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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH36518 (e-PCR)
- UniSTS:73011

D8S1934 (e-PCR)
- UniSTS:10036

D8S1556 (e-PCR)
- UniSTS:153669

RH122296 (e-PCR)
- UniSTS:137823

STS-Z40756 (e-PCR)
- UniSTS:78176

D8S2073 (e-PCR)
- UniSTS:10874

RH103380 (e-PCR)
- UniSTS:97707

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	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.