TMBIM1 transmembrane BAX inhibitor motif containing 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: TMBIM1provided by HGNC
Official Full Name: transmembrane BAX inhibitor motif containing 1provided by HGNC
Primary source: HGNC:HGNC:23410
See related: Ensembl:ENSG00000135926 MIM:610364; AllianceGenome:HGNC:23410
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: LFG3; RECS1; MST100; PP1201; MSTP100
Summary: Enables death receptor binding activity. Involved in negative regulation of Fas signaling pathway; negative regulation of extrinsic apoptotic signaling pathway via death domain receptors; and negative regulation of protein localization to plasma membrane. Located in Golgi apparatus; endosome membrane; and lysosomal membrane. [provided by Alliance of Genome Resources, Dec 2024]
Expression: Ubiquitous expression in esophagus (RPKM 69.4), fat (RPKM 68.5) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 2q35

Exon count:: 17

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	2	NC_000002.12 (218274197..218292503, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	2	NC_060926.1 (218759890..218778207, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	2	NC_000002.11 (219138920..219157226, complement)

Chromosome 2 - NC_000002.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

MicroRNA-582-3p knockdown alleviates non-alcoholic steatohepatitis by altering the gut microbiota composition and moderating TMBIM1.
Title: MicroRNA-582-3p knockdown alleviates non-alcoholic steatohepatitis by altering the gut microbiota composition and moderating TMBIM1.
Mitochondrial genome copy number measured by DNA sequencing in human blood is strongly associated with metabolic traits via cell-type composition differences.
Title: Mitochondrial genome copy number measured by DNA sequencing in human blood is strongly associated with metabolic traits via cell-type composition differences.
We aimed to replicate the association of rs992157 with CRC in the Chinese population and to further determine the real susceptible gene of CRC as indicated by this variant. Variant rs992157 is significantly associated with the susceptibility and progression of colorectal cancer. It can increase the risk of CRC possibly via up-regulation of TMBIM1.
Title: Genetic variant of TMBIM1 is associated with the susceptibility of colorectal cancer in the Chinese population.
The combined analysis identified a new risk association for colorectal cancer (CRC) at 2q35 marked by rs992157 which is intronic to PNKD and TMBIM1.Intriguingly this susceptibility single-nucleotide polymorphism (SNP) is in strong linkage disequilibrium (r(2) = 0.90, D' = 0.96) with the previously discovered GWAS SNP rs2382817 for inflammatory bowel disease (IBD).
Title: Variation at 2q35 (PNKD and TMBIM1) influences colorectal cancer risk and identifies a pleiotropic effect with inflammatory bowel disease.
TMBIM1 is an effective suppressor of steatohepatitis and a previously unknown regulator of the multivesicular body (MVB)-lysosomal pathway.
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.
These results suggest that the TMBIM family has comparable functions in the maintenance of intracellular Ca(2) homeostasis in a wide variety of tissues
Title: The transmembrane Bax inhibitor motif (TMBIM) containing protein family: Tissue expression, intracellular localization and effects on the ER CA²⁺-filling state.
data suggest that PP1201 functions as an anti-apoptotic protein and its increased expression in vascular cells can contribute to homeostasis by reducing Fas trafficking to the cell membrane
Title: A shear stress responsive gene product PP1201 protects against Fas-mediated apoptosis by reducing Fas expression on the cell surface.
The tmbim1 may participate in cell death regulation by interacting with proteins of Bcl-2 family, promoting tumor metastasis, which is deduced from the evolutionary conservation of the membrane protein family containing multiple membrane spanning segments
Title: Comparative genomics and function analysis on BI1 family.

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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

EBI GWAS Catalog

Description
Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. EBI GWAS Catalog EBI GWAS CatalogPubMed

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

RH12007 (e-PCR)
- UniSTS:31236

RH80510 (e-PCR)
- UniSTS:86596

RH78114 (e-PCR)
- UniSTS:25927

RH68260 (e-PCR)
- UniSTS:54346

RH41829 (e-PCR)
- UniSTS:52062

WI-17411 (e-PCR)
- UniSTS:49661

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables calcium channel activity	IBA Inferred from Biological aspect of Ancestor more info
enables death receptor binding	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in apoptotic signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in calcium ion transmembrane transport	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of Fas signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of catalytic activity	ISS Inferred from Sequence or Structural Similarity more info
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	IMP Inferred from Mutant Phenotype more info	PubMed
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	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of blood vessel remodeling	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	IDA Inferred from Direct Assay more info	PubMed
located_in Golgi membrane	IDA Inferred from Direct Assay more info	PubMed
is_active_in endoplasmic reticulum	IBA Inferred from Biological aspect of Ancestor more info
located_in endosome membrane	IDA Inferred from Direct Assay more info	PubMed
located_in extracellular exosome	HDA more info	PubMed
located_in intracellular membrane-bounded organelle	IDA Inferred from Direct Assay more info
located_in lysosomal membrane	HDA more info	PubMed
located_in lysosomal membrane	IDA Inferred from Direct Assay more info	PubMed
is_active_in membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	TAS Traceable Author Statement more info
located_in specific granule membrane	TAS Traceable Author Statement more info

General protein information

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Preferred Names: protein lifeguard 3

Names: 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.

mRNA and Protein(s)

NM_001321427.2 → NP_001308356.1 protein lifeguard 3 isoform 1

Status: VALIDATED

Source sequence(s)

AC021016

Consensus CDS

CCDS2412.1

UniProtKB/Swiss-Prot

B3KQY6, Q8N1R3, Q8TAM3, Q969X1, Q96K13

UniProtKB/TrEMBL

Q1MW40

Related

ENSP00000409738.1, ENST00000444881.5

Conserved Domains (1) summary

cd10428
Location:89 → 308

LFG_like; Proteins similar to and including lifeguard (LFG), a putative regulator of apoptosis
NM_001321428.2 → NP_001308357.1 protein lifeguard 3 isoform 1

Status: VALIDATED

Source sequence(s)

AC021016

Consensus CDS

CCDS2412.1

UniProtKB/Swiss-Prot

B3KQY6, Q8N1R3, Q8TAM3, Q969X1, Q96K13

UniProtKB/TrEMBL

Q1MW40

Conserved Domains (1) summary

cd10428
Location:89 → 308

LFG_like; Proteins similar to and including lifeguard (LFG), a putative regulator of apoptosis
NM_001321429.2 → NP_001308358.1 protein lifeguard 3 isoform 1

Status: VALIDATED

Source sequence(s)

AC021016

Consensus CDS

CCDS2412.1

UniProtKB/Swiss-Prot

B3KQY6, Q8N1R3, Q8TAM3, Q969X1, Q96K13

UniProtKB/TrEMBL

Q1MW40

Conserved Domains (1) summary

cd10428
Location:89 → 308

LFG_like; Proteins similar to and including lifeguard (LFG), a putative regulator of apoptosis
NM_001321430.2 → NP_001308359.1 protein lifeguard 3 isoform 1

Status: VALIDATED

Source sequence(s)

AC021016

Consensus CDS

CCDS2412.1

UniProtKB/Swiss-Prot

B3KQY6, Q8N1R3, Q8TAM3, Q969X1, Q96K13

UniProtKB/TrEMBL

Q1MW40

Related

ENSP00000380025.2, ENST00000396809.6

Conserved Domains (1) summary

cd10428
Location:89 → 308

LFG_like; Proteins similar to and including lifeguard (LFG), a putative regulator of apoptosis
NM_001321432.2 → NP_001308361.1 protein lifeguard 3 isoform 1

Status: VALIDATED

Source sequence(s)

AC021016

Consensus CDS

CCDS2412.1

UniProtKB/Swiss-Prot

B3KQY6, Q8N1R3, Q8TAM3, Q969X1, Q96K13

UniProtKB/TrEMBL

Q1MW40

Conserved Domains (1) summary

cd10428
Location:89 → 308

LFG_like; Proteins similar to and including lifeguard (LFG), a putative regulator of apoptosis
NM_001321433.2 → NP_001308362.1 protein lifeguard 3 isoform 1

Status: VALIDATED

Source sequence(s)

AC021016

Consensus CDS

CCDS2412.1

UniProtKB/Swiss-Prot

B3KQY6, Q8N1R3, Q8TAM3, Q969X1, Q96K13

UniProtKB/TrEMBL

Q1MW40

Conserved Domains (1) summary

cd10428
Location:89 → 308

LFG_like; Proteins similar to and including lifeguard (LFG), a putative regulator of apoptosis
NM_001321435.2 → NP_001308364.1 protein lifeguard 3 isoform 1

Status: VALIDATED

Source sequence(s)

AC021016

Consensus CDS

CCDS2412.1

UniProtKB/Swiss-Prot

B3KQY6, Q8N1R3, Q8TAM3, Q969X1, Q96K13

UniProtKB/TrEMBL

Q1MW40

Conserved Domains (1) summary

cd10428
Location:89 → 308

LFG_like; Proteins similar to and including lifeguard (LFG), a putative regulator of apoptosis
NM_001321436.2 → NP_001308365.1 protein lifeguard 3 isoform 1

Status: VALIDATED

Source sequence(s)

AC021016

Consensus CDS

CCDS2412.1

UniProtKB/Swiss-Prot

B3KQY6, Q8N1R3, Q8TAM3, Q969X1, Q96K13

UniProtKB/TrEMBL

Q1MW40

Conserved Domains (1) summary

cd10428
Location:89 → 308

LFG_like; Proteins similar to and including lifeguard (LFG), a putative regulator of apoptosis
NM_001321438.2 → NP_001308367.1 protein lifeguard 3 isoform 2

Status: VALIDATED

Source sequence(s)

AC021016

UniProtKB/TrEMBL

B3KSM0, B4DUD2

Conserved Domains (1) summary

cd10428
Location:13 → 197

LFG_like; Proteins similar to and including lifeguard (LFG), a putative regulator of apoptosis
NM_022152.6 → NP_071435.2 protein lifeguard 3 isoform 1

See identical proteins and their annotated locations for NP_071435.2

Status: VALIDATED

Source sequence(s)

AC021016

Consensus CDS

CCDS2412.1

UniProtKB/Swiss-Prot

B3KQY6, Q8N1R3, Q8TAM3, Q969X1, Q96K13

UniProtKB/TrEMBL

Q1MW40

Related

ENSP00000258412.3, ENST00000258412.8

Conserved Domains (1) summary

cd10428
Location:89 → 308

LFG_like; Proteins similar to and including lifeguard (LFG), a putative regulator of apoptosis