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

Gene ID: 64114, updated on 2-Nov-2024

Summary

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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, Nov 2024]
Expression
Ubiquitous expression in esophagus (RPKM 69.4), fat (RPKM 68.5) and 25 other tissues See more
Orthologs
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Genomic context

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See TMBIM1 in Genome Data Viewer
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_000002.12Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:219126185-219126990 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17115 Neighboring gene G protein-coupled bile acid receptor 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:219133153-219134038 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17116 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17117 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17118 Neighboring gene angio associated migratory cell protein Neighboring gene PNKD metallo-beta-lactamase domain containing Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:219150593-219151401 Neighboring gene microRNA 6513 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17119 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:219154375-219154874 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:219155794-219156758 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:219156759-219157721 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:219157904-219158750 Neighboring gene uncharacterized LOC105373881 Neighboring gene uncharacterized LOC105373880 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:219187601-219188196 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:219191232-219191976 Neighboring gene small nucleolar RNA U13 Neighboring gene CATIP antisense RNA 2

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues 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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Related articles in PubMed

  1. Identification of differentially regulated genes in bovine blastocysts using an annealing control primer system. Hwang KC, et al. Mol Reprod Dev, 2004 Sep. PMID 15278903
  2. Genetic variant of TMBIM1 is associated with the susceptibility of colorectal cancer in the Chinese population. Zhang J, et al. Clin Res Hepatol Gastroenterol, 2019 Jun. PMID 30447906
  3. Ion and pH Sensitivity of a TMBIM Ca(2+) Channel. Guo G, et al. Structure, 2019 Jun 4. PMID 30930064, Free PMC Article
  4. MicroRNA-582-3p knockdown alleviates non-alcoholic steatohepatitis by altering the gut microbiota composition and moderating TMBIM1. Huang S, et al. Ir J Med Sci, 2024 Apr. PMID 37823951
  5. Variation at 2q35 (PNKD and TMBIM1) influences colorectal cancer risk and identifies a pleiotropic effect with inflammatory bowel disease. Orlando G, et al. Hum Mol Genet, 2016 Jun 1. PMID 27005424, Free PMC Article

See all (36) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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.
  2. 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.
  3. 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.
  4. 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.
  5. 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.
  6. 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.
  7. 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.
  8. 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.
Submit: New GeneRIF Correction

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

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 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 
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 PubMed 
located_in intracellular membrane-bounded organelle IDA
Inferred from Direct Assay
more info
  
located_in lysosomal membrane HDA 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)

  1. 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

  2. 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

  3. 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

  4. 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

  5. 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

  6. 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

  7. 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

  8. 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

  9. 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

  10. 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

RNA

  1. NR_135643.2 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC021016

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

    Range
    218274197..218292503 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    218759890..218778207 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q969X1.2 GenPept UniProtKB/Swiss-Prot:Q969X1

Gene LinkOut

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