Tmbim6 transmembrane BAX inhibitor motif containing 6 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Tmbim6provided by MGI
Official Full Name: transmembrane BAX inhibitor motif containing 6provided by MGI
Primary source: MGI:MGI:99682
See related: Ensembl:ENSMUSG00000023010 AllianceGenome:MGI:99682
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: Bi1; Tegt; 5031406P05Rik
Summary: Enables endoribonuclease inhibitor activity and enzyme binding activity. Involved in cellular response to unfolded protein; negative regulation of RNA metabolic process; and negative regulation of immunoglobulin production. Acts upstream of or within endoplasmic reticulum calcium ion homeostasis; intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress; and negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway. Predicted to be located in endoplasmic reticulum membrane and mitochondrial membrane. Is expressed in head and retina. Orthologous to human TMBIM6 (transmembrane BAX inhibitor motif containing 6). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in kidney adult (RPKM 555.8), liver adult (RPKM 490.6) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 15 F1; 15 56.13 cM

Exon count:: 13

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	15	NC_000081.7 (99290828..99307930)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	15	NC_000081.6 (99392947..99410049)

Chromosome 15 - NC_000081.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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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?

[Long noncoding RNA H19 promotes vascular calcification by repressing the Bax inhibitor 1/optic atrophy 1 pathway].
Title: [Long noncoding RNA H19 promotes vascular calcification by repressing the Bax inhibitor 1/optic atrophy 1 pathway].
TMBIM6 deficiency leads to bone loss by accelerating osteoclastogenesis.
Title: TMBIM6 deficiency leads to bone loss by accelerating osteoclastogenesis.
Transmembrane BAX inhibitor motif containing 6 suppresses presenilin-2 to preserve mitochondrial integrity after myocardial ischemia-reperfusion injury.
Title: Transmembrane BAX inhibitor motif containing 6 suppresses presenilin-2 to preserve mitochondrial integrity after myocardial ischemia-reperfusion injury.
TMBIM6 prevents VDAC1 multimerization and improves mitochondrial quality control to reduce sepsis-related myocardial injury.
Title: TMBIM6 prevents VDAC1 multimerization and improves mitochondrial quality control to reduce sepsis-related myocardial injury.
TMBIM6 promotes diabetic tubular epithelial cell survival and albumin endocytosis by inhibiting the endoplasmic reticulum stress sensor, IRE1alpha.
Title: TMBIM6 promotes diabetic tubular epithelial cell survival and albumin endocytosis by inhibiting the endoplasmic reticulum stress sensor, IRE1α.
[Bax inhibitor 1 inhibits vascular calcification in mice by activating optic atrophy 1 expression].
Title: [Bax inhibitor 1 inhibits vascular calcification in mice by activating optic atrophy 1 expression].
BI-1 ameliorates myocardial injury by activating the mitochondrial unfolded protein response and FUNDC1-related mitophagy in cardiorenal syndrome type 3.
Title: BI-1 ameliorates myocardial injury by activating the mitochondrial unfolded protein response and FUNDC1-related mitophagy in cardiorenal syndrome type 3.
TMBIM6 regulates redox-associated posttranslational modifications of IRE1alpha and ER stress response failure in aging mice and humans.
Title: TMBIM6 regulates redox-associated posttranslational modifications of IRE1α and ER stress response failure in aging mice and humans.
Involvement of miR-27a-3p in diabetic nephropathy via affecting renal fibrosis, mitochondrial dysfunction, and endoplasmic reticulum stress.
Title: Involvement of miR-27a-3p in diabetic nephropathy via affecting renal fibrosis, mitochondrial dysfunction, and endoplasmic reticulum stress.
Bax inhibitor-1 deficiency leads to obesity by increasing Ca(2+)-dependent insulin secretion.
Title: Bax inhibitor-1 deficiency leads to obesity by increasing Ca(2+)-dependent insulin secretion.

Submit: New GeneRIF Correction See all GeneRIFs (35)

Variation

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Alleles

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

Endonuclease-mediated (3)
Gene trapped (2) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Tmbim6 (e-PCR), detects polymorphism
- UniSTS:527582

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables endoribonuclease inhibitor activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables endoribonuclease inhibitor activity	ISO Inferred from Sequence Orthology more info
enables enzyme binding	IBA Inferred from Biological aspect of Ancestor more info
enables enzyme binding	IPI Inferred from Physical Interaction more info	PubMed
enables enzyme binding	ISO Inferred from Sequence Orthology more info
enables ubiquitin protein ligase binding	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within apoptotic process	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within autophagy	IEA Inferred from Electronic Annotation more info
involved_in cellular response to unfolded protein	IBA Inferred from Biological aspect of Ancestor more info
involved_in cellular response to unfolded protein	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cellular response to unfolded protein	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within endoplasmic reticulum calcium ion homeostasis	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of RNA splicing	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of RNA splicing	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of RNA splicing	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of apoptotic process	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of apoptotic signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of apoptotic signaling pathway	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within negative regulation of calcium ion transport into cytosol	ISO Inferred from Sequence Orthology more info	PubMed
acts_upstream_of_or_within negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway	IGI Inferred from Genetic Interaction more info	PubMed
involved_in negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of endoribonuclease activity	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of endoribonuclease activity	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of endoribonuclease activity	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of hypoxia-induced intrinsic apoptotic signaling pathway	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of immunoglobulin production	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of protein binding	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within neuron intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in response to L-glutamate	ISO Inferred from Sequence Orthology more info
involved_in response to endoplasmic reticulum stress	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within response to unfolded protein	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in cytoplasm	ISO Inferred from Sequence Orthology more info
located_in endoplasmic reticulum	ISO Inferred from Sequence Orthology more info
located_in endoplasmic reticulum membrane	ISO Inferred from Sequence Orthology more info
located_in membrane	IEA Inferred from Electronic Annotation more info
is_active_in mitochondrial membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in mitochondrial membrane	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: bax inhibitor 1

Names: BI-1; testis enhanced gene transcript; testis-enhanced gene transcript protein; transmembrane BAX inhibitor motif-containing protein 6

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_001171034.1 → NP_001164505.1 bax inhibitor 1

See identical proteins and their annotated locations for NP_001164505.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longest transcript. Variants 1 through 4 encode the same protein.

Source sequence(s)

AK036782, AK139901, BE990530, BY272301, CD554385

Consensus CDS

CCDS37201.1

UniProtKB/Swiss-Prot

Q3TX81, Q8BFY4, Q9D2C7

UniProtKB/TrEMBL

E0CX98

Related

ENSMUSP00000125563.2, ENSMUST00000161250.8

Conserved Domains (1) summary

cd10430
Location:16 → 228

BI-1; BAX inhibitor (BI)-1
NM_001171035.1 → NP_001164506.1 bax inhibitor 1

See identical proteins and their annotated locations for NP_001164506.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 through 4 encode the same protein.

Source sequence(s)

AK036782, AK139901, BE990530, BY158276, BY753376

Consensus CDS

CCDS37201.1

UniProtKB/Swiss-Prot

Q3TX81, Q8BFY4, Q9D2C7

UniProtKB/TrEMBL

E0CX98

Related

ENSMUSP00000125117.2, ENSMUST00000159209.8

Conserved Domains (1) summary

cd10430
Location:16 → 228

BI-1; BAX inhibitor (BI)-1
NM_001171036.1 → NP_001164507.1 bax inhibitor 1

See identical proteins and their annotated locations for NP_001164507.1

Status: VALIDATED

Description

Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. Variants 1 through 4 encode the same protein.

Source sequence(s)

AC118646, AK036782, AK139901, BE990530, BY272301

Consensus CDS

CCDS37201.1

UniProtKB/Swiss-Prot

Q3TX81, Q8BFY4, Q9D2C7

UniProtKB/TrEMBL

E0CX98

Related

ENSMUSP00000124651.2, ENSMUST00000160635.8

Conserved Domains (1) summary

cd10430
Location:16 → 228

BI-1; BAX inhibitor (BI)-1
NM_026669.4 → NP_080945.1 bax inhibitor 1

See identical proteins and their annotated locations for NP_080945.1

Status: VALIDATED

Description

Transcript Variant: This variant (4) differs in the 5' UTR compared to variant 1. Variants 1 through 4 encode the same protein.

Source sequence(s)

AK036782, AK139901, BE990530, BY272301

Consensus CDS

CCDS37201.1

UniProtKB/Swiss-Prot

Q3TX81, Q8BFY4, Q9D2C7

UniProtKB/TrEMBL

E0CX98

Related

ENSMUSP00000023749.9, ENSMUST00000023749.15

Conserved Domains (1) summary

cd10430
Location:16 → 228

BI-1; BAX inhibitor (BI)-1

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

NC_000081.7 Reference GRCm39 C57BL/6J

Range

99290828..99307930

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_036159068.1 → XP_036014961.1 bax inhibitor 1 isoform X1

UniProtKB/Swiss-Prot

Q3TX81, Q8BFY4, Q9D2C7

UniProtKB/TrEMBL

E0CX98

Conserved Domains (1) summary

cd10430
Location:16 → 228

BI-1; BAX inhibitor (BI)-1