Bok BCL2-related ovarian killer [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Bokprovided by MGI
Official Full Name: BCL2-related ovarian killerprovided by MGI
Primary source: MGI:MGI:1858494
See related: Ensembl:ENSMUSG00000026278 AllianceGenome:MGI:1858494
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: mtd; matador
Summary: Enables protein homodimerization activity; signaling receptor binding activity; and ubiquitin protein ligase binding activity. Involved in several processes, including activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c; ion homeostasis; and regulation of programmed cell death. Acts upstream of or within neuron apoptotic process. Located in several cellular components, including bounding membrane of organelle; mitochondrial membrane; and trans-Golgi network membrane. Is expressed in several structures, including central nervous system; embryo mesenchyme; gut; retina; and vibrissa dermal component. Orthologous to human BOK (BCL2 family apoptosis regulator BOK). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Broad expression in ovary adult (RPKM 72.2), stomach adult (RPKM 32.7) and 22 other tissues See more
Orthologs: human all
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Genomic context

Location:: 1 D; 1 47.28 cM

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	1	NC_000067.7 (93613297..93623492)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	1	NC_000067.6 (93685575..93695770)

Chromosome 1 - NC_000067.7 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: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

BOK controls apoptosis by Ca(2+) transfer through ER-mitochondrial contact sites.
Title: BOK controls apoptosis by Ca(2+) transfer through ER-mitochondrial contact sites.
Loss of BOK Has a Minor Impact on Acetaminophen Overdose-Induced Liver Damage in Mice.
Title: Loss of BOK Has a Minor Impact on Acetaminophen Overdose-Induced Liver Damage in Mice.
Bok regulates mitochondrial fusion and morphology.
Title: Bok regulates mitochondrial fusion and morphology.
a role for BOK in nucleotide metabolism and cell cycle regulation, is reported.
Title: BCL-2 family protein BOK is a positive regulator of uridine metabolism in mammals.
BH3 and transmembrane domains of BOK were vital for BOK regulation of fission.
Title: Ceramide-induced BOK promotes mitochondrial fission in preeclampsia.
BOK is induced by diethylnitrosamine (DEN), contributes to DEN-induced hepatocellular apoptosis and resulting hepatocarcinogenesis.
Title: BOK promotes chemical-induced hepatocarcinogenesis in mice.
results suggest that in addition to induction of apoptosis in response to ER stress, BOK may regulate erythropoiesis when certain erythroid progenitors experience cell stress.
Title: BOK promotes erythropoiesis in a mouse model of myelodysplastic syndrome.
we show that BOK(C) can permeabilize liposomes, and cooperate with cBID, but its role in directly mediating mitochondrial permeabilization is unclear and may underlie a yet to be determined negative regulation.
Title: The membrane activity of BOK involves formation of large, stable toroidal pores and is promoted by cBID.
Bok controls neuronal Ca(2+) homeostasis and bioenergetics in seizure-induced neuronal injury.
Title: Bok Is Not Pro-Apoptotic But Suppresses Poly ADP-Ribose Polymerase-Dependent Cell Death Pathways and Protects against Excitotoxic and Seizure-Induced Neuronal Injury.
Study reports that BCL-2 ovarian killer (BOK) is a bona fide yet unconventional effector of mitochondrial outer membrane permeabilization that can trigger apoptosis in the absence of both BAX and BAK.
Title: BOK Is a Non-canonical BCL-2 Family Effector of Apoptosis Regulated by ER-Associated Degradation.

Submit: New GeneRIF Correction See all GeneRIFs (16)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (4)
Targeted (6) 1 citation

General gene information

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Markers

RH136451 (e-PCR)
- UniSTS:210437

D1S2869 (e-PCR), detects polymorphism
- UniSTS:47827

AI847676 (e-PCR)
- UniSTS:165092

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables BH domain binding	IBA Inferred from Biological aspect of Ancestor more info
enables BH domain binding	ISO Inferred from Sequence Orthology more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein dimerization activity	ISO Inferred from Sequence Orthology more info
enables protein heterodimerization activity	ISO Inferred from Sequence Orthology more info
enables protein homodimerization activity	IDA Inferred from Direct Assay more info	PubMed
enables protein-containing complex binding	ISO Inferred from Sequence Orthology more info
enables signaling receptor binding	IPI Inferred from Physical Interaction more info	PubMed
enables ubiquitin protein ligase binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in activation of cysteine-type endopeptidase activity involved in apoptotic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in activation of cysteine-type endopeptidase activity involved in apoptotic process	ISO Inferred from Sequence Orthology more info
involved_in activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in apoptotic process	ISO Inferred from Sequence Orthology more info
involved_in cellular component disassembly involved in execution phase of apoptosis	IDA Inferred from Direct Assay more info	PubMed
involved_in extrinsic apoptotic signaling pathway in absence of ligand	IBA Inferred from Biological aspect of Ancestor more info
involved_in intrinsic apoptotic signaling pathway by p53 class mediator	ISO Inferred from Sequence Orthology more info
involved_in intrinsic apoptotic signaling pathway in response to DNA damage	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of mitochondrial depolarization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of necroptotic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of neuron apoptotic process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within neuron apoptotic process	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of PERK-mediated unfolded protein response	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of apoptotic process	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of execution phase of apoptosis	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of intrinsic apoptotic signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in protein complex oligomerization	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of apoptotic process	IEA Inferred from Electronic Annotation more info
involved_in regulation of autophagy	ISO Inferred from Sequence Orthology more info
involved_in regulation of chorionic trophoblast cell proliferation	ISO Inferred from Sequence Orthology more info
involved_in regulation of cytosolic calcium ion concentration	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of granulosa cell apoptotic process	ISO Inferred from Sequence Orthology more info
involved_in release of cytochrome c from mitochondria	IBA Inferred from Biological aspect of Ancestor more info
involved_in release of cytochrome c from mitochondria	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
located_in Golgi apparatus	ISO Inferred from Sequence Orthology more info
located_in cis-Golgi network membrane	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasm	ISO Inferred from Sequence Orthology more info
located_in early endosome membrane	IDA Inferred from Direct Assay more info	PubMed
located_in endoplasmic reticulum	ISO Inferred from Sequence Orthology more info
located_in endoplasmic reticulum membrane	IDA Inferred from Direct Assay more info	PubMed
located_in endoplasmic reticulum membrane	ISO Inferred from Sequence Orthology more info
located_in endosome	IEA Inferred from Electronic Annotation more info
located_in membrane	ISO Inferred from Sequence Orthology more info
located_in mitochondrial inner membrane	ISO Inferred from Sequence Orthology more info
located_in mitochondrial membrane	IDA Inferred from Direct Assay more info	PubMed
located_in mitochondrial membrane	ISO Inferred from Sequence Orthology more info
is_active_in mitochondrial outer membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in mitochondrion	ISO Inferred from Sequence Orthology more info
located_in nucleus	ISO Inferred from Sequence Orthology more info
located_in recycling endosome membrane	IDA Inferred from Direct Assay more info	PubMed
located_in trans-Golgi network membrane	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: bcl-2-related ovarian killer protein

Names: apoptosis activator Mtd

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)

NM_016778.3 → NP_058058.1 bcl-2-related ovarian killer protein

See identical proteins and their annotated locations for NP_058058.1

Status: VALIDATED

Source sequence(s)

AK168373, BE991146, CJ072720

Consensus CDS

CCDS15193.1

UniProtKB/Swiss-Prot

O35425

UniProtKB/TrEMBL

Q3TH93

Related

ENSMUSP00000027499.7, ENSMUST00000027499.13

Conserved Domains (1) summary

cd06845
Location:37 → 178

Bcl-2_like; Apoptosis regulator proteins of the Bcl-2 family, named after B-cell lymphoma 2. This alignment model spans what have been described as Bcl-2 homology regions BH1, BH2, BH3, and BH4. Many members of this family have an additional C-terminal transmembrane ...