Tmbim1 transmembrane BAX inhibitor motif containing 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Tmbim1provided by MGI
Official Full Name: transmembrane BAX inhibitor motif containing 1provided by MGI
Primary source: MGI:MGI:1916910
See related: Ensembl:ENSMUSG00000006301 AllianceGenome:MGI:1916910
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: RECS1; Tmbib1; mKIAA4161; 2310061B02Rik
Summary: Predicted to enable calcium channel activity and death receptor binding activity. Involved in negative regulation of catalytic activity and positive regulation of blood vessel remodeling. Predicted to be located in endosome membrane and lysosomal membrane. Predicted to be active in Golgi apparatus; endoplasmic reticulum; and membrane. Is expressed in esophagus epithelium; heart valve; naris; and stomach. Orthologous to human TMBIM1 (transmembrane BAX inhibitor motif containing 1). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Broad expression in lung adult (RPKM 77.4), duodenum adult (RPKM 73.5) and 23 other tissues See more
Orthologs: human all
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Genomic context

Location:: 1 C3; 1 38.53 cM

Exon count:: 12

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	1	NC_000067.7 (74327406..74343495, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	1	NC_000067.6 (74288247..74304336, complement)

Chromosome 1 - NC_000067.7 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?

TMBIM1 is an inhibitor of adipogenesis and its depletion promotes adipocyte hyperplasia and improves obesity-related metabolic disease.
Title: TMBIM1 is an inhibitor of adipogenesis and its depletion promotes adipocyte hyperplasia and improves obesity-related metabolic disease.
Tmbim1 is a key suppressor of metabolic stress-induced cardiomyopathy.Tmbim1 was highly expressed in hearts of mice fed high fat diet.
Title: Up regulated Tmbim1 activation promotes high fat diet (HFD)-induced cardiomyopathy by enhancement of inflammation and oxidative stress.
TMBIM1 is an effective suppressor of steatohepatitis and a previously unknown regulator of the multivesicular body (MVB)-lysosomal pathway. Tmbim1 expression in hepatocytes substantially inhibited high-fat diet-induced insulin resistance, hepatic steatosis and inflammation in mice. Overexpression of Tmbim1 in the liver effectively inhibited a severe form of NAFLD in mice.
Title: Tmbim1 is a multivesicular body regulator that protects against non-alcoholic fatty liver disease in mice and monkeys by targeting the lysosomal degradation of Tlr4.
An endosomal/lysosomal membrane protein which plays protective roles in vascular remodeling
Title: RECS1 deficiency in mice induces susceptibility to cystic medial degeneration.
RECS1 negatively regulates aortic MMP-9 production and knocking out RECS1 induces susceptibility to aortic dilation as well as cystic medial degeneration in the aged mice.
Title: RECS1 is a negative regulator of matrix metalloproteinase-9 production and aged RECS1 knockout mice are prone to aortic dilation.

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Variation

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Alleles

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

Endonuclease-mediated (2) 1 citation
Targeted (2) 1 citation

General gene information

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Markers

AA960455 (e-PCR)
- UniSTS:160553

AU048745 (e-PCR)
- UniSTS:145195

RH126458 (e-PCR)
- UniSTS:163166

AU024746 (e-PCR)
- UniSTS:185438

RH127186 (e-PCR)
- UniSTS:167272

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables calcium channel activity	IBA Inferred from Biological aspect of Ancestor more info
enables death receptor binding	ISO Inferred from Sequence Orthology more info
enables death receptor binding	ISS Inferred from Sequence or Structural Similarity more info

Process	Evidence Code	Pubs
involved_in apoptotic signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of Fas signaling pathway	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of Fas signaling pathway	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of catalytic activity	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of extrinsic apoptotic signaling pathway via death domain receptors	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of extrinsic apoptotic signaling pathway via death domain receptors	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of extrinsic apoptotic signaling pathway via death domain receptors	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of neuron apoptotic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of protein localization to plasma membrane	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of protein localization to plasma membrane	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of blood vessel remodeling	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of calcium-mediated signaling	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
is_active_in Golgi apparatus	IBA Inferred from Biological aspect of Ancestor more info
located_in Golgi apparatus	ISO Inferred from Sequence Orthology more info
located_in Golgi apparatus	ISS Inferred from Sequence or Structural Similarity more info
is_active_in endoplasmic reticulum	IBA Inferred from Biological aspect of Ancestor more info
located_in endosome membrane	ISO Inferred from Sequence Orthology more info
located_in endosome membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in intracellular membrane-bounded organelle	ISO Inferred from Sequence Orthology more info
located_in lysosomal membrane	ISO Inferred from Sequence Orthology more info
located_in lysosomal membrane	ISS Inferred from Sequence or Structural Similarity more info
is_active_in membrane	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: protein lifeguard 3

Names: responsive to centrifugal force and shear stress gene 1 protein; transmembrane BAX inhibitor motif-containing protein 1

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.