U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Links from GEO Profiles

    • Showing Current items.

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

    Gene ID: 64114, updated on 31-Mar-2024

    Summary

    Go to the top of the page Help
    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, Apr 2022]
    Expression
    Ubiquitous expression in esophagus (RPKM 69.4), fat (RPKM 68.5) and 25 other tissues See more
    Orthologs
    mouse all
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    Go to the top of the page Help
    Location:
    2q35
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (218274197..218292503, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (218759890..218778207, complement)
    105.20220307 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

    Go to the top of the page Help

    Go to nucleotide: Graphics FASTA GenBank

    Expression

    Go to the top of the page Help
    • Project title: 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

    Go to the top of the pageHelp

    Related articles in PubMed

    1. Ion and pH Sensitivity of a TMBIM Ca(2+) Channel. Guo G, et al. Structure, 2019 Jun 4. PMID 30930064, Free PMC Article
    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. 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
    4. 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
    5. Large scale isolation of non-uniform shear stress-responsive genes from cultured human endothelial cells through the preparation of a subtracted cDNA library. Yoshisue H, et al. Atherosclerosis, 2002 Jun. PMID 11996952

    See all (35) 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

    Go to the top of the page Help

    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

    Go to the top of the page Help

    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

    Go to the top of the page Help
    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Go to the top of the page Help

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    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 negative regulation of Fas signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in negative regulation of apoptotic signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    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 IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    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

    Go to the top of the page Help
    Preferred Names
    protein lifeguard 3
    Names
    transmembrane BAX inhibitor motif-containing protein 1

    NCBI Reference Sequences (RefSeq)

    Go to the top of the page Help

    NEW Try the new Transcript table

    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_2023_10

    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

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
    Molecular Biology Databases
    Research Materials
    Tools
    Miscellaneous