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    TMBIM6 transmembrane BAX inhibitor motif containing 6 [ Homo sapiens (human) ]

    Gene ID: 7009, updated on 28-Oct-2024

    Summary

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    Official Symbol
    TMBIM6provided by HGNC
    Official Full Name
    transmembrane BAX inhibitor motif containing 6provided by HGNC
    Primary source
    HGNC:HGNC:11723
    See related
    Ensembl:ENSG00000139644 MIM:600748; AllianceGenome:HGNC:11723
    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
    BI-1; TEGT; BAXI1
    Summary
    Enables endoribonuclease inhibitor activity and ubiquitin protein ligase binding activity. Involved in several processes, including negative regulation of intrinsic apoptotic signaling pathway; negative regulation of macromolecule metabolic process; and response to L-glutamate. Acts upstream of or within negative regulation of calcium ion transport into cytosol. Located in endoplasmic reticulum membrane and mitochondrial membrane. Biomarker of cervical squamous cell carcinoma and prostate carcinoma. [provided by Alliance of Genome Resources, Oct 2024]
    Expression
    Ubiquitous expression in kidney (RPKM 392.9), liver (RPKM 352.7) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See TMBIM6 in Genome Data Viewer
    Location:
    12q13.12
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (49741557..49764934)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (49704579..49727957)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (50135340..50158717)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene pre-mRNA processing factor 40 homolog B Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:50041399-50042391 Neighboring gene formin like 3 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:50052522-50052699 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:50056671-50057609 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:50067301-50067999 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6322 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6323 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:50090751-50091252 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6324 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6325 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6326 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6327 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6328 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4442 Neighboring gene uncharacterized LOC124902929 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6329 Neighboring gene cytochrome c oxidase subunit 5B pseudogene 5 Neighboring gene MPRA-validated peak1727 silencer Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:50134965-50135656 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6332 Neighboring gene MPRA-validated peak1728 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6333 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6334 Neighboring gene LSM6 homolog, U6 small nuclear RNA and mRNA degradation associated pseudogene 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:50184530-50185372 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:50195140-50195640 Neighboring gene NCK associated protein 5 like Neighboring gene nuclear-encoded mitochondrial tRNA-Gln (TTG) 6-1

    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. Monoamine carboxylate transporters are involved in BI-1-associated cancer metastasis in HT1080 colon fibrosarcoma cells. Lee GH, et al. Int J Oncol, 2011 Jul. PMID 21537843
    2. Construction and identification of the recombinant lentiviral expression vector targeting human BAX inhibitor-1 gene. Luo HQ, et al. J BUON, 2013 Oct-Dec. PMID 24344041
    3. BI-1 enhances Fas-induced cell death through a Na+/H+-associated mechanism. Lee GH, et al. BMB Rep, 2014 Jul. PMID 24314142, Free PMC Article
    4. Bax inhibitor-1 is likely a pH-sensitive calcium leak channel, not a H+/Ca2+ exchanger. Bultynck G, et al. Sci Signal, 2014 Sep 16. PMID 25227609
    5. Bax Inhibitor-1-mediated Ca2+ leak is decreased by cytosolic acidosis. Kiviluoto S, et al. Cell Calcium, 2013 Sep. PMID 23867001

    See all (72) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. STRIP2 motivates non-small cell lung cancer progression by modulating the TMBIM6 stability through IGF2BP3 dependent.
      Title: STRIP2 motivates non-small cell lung cancer progression by modulating the TMBIM6 stability through IGF2BP3 dependent.
    2. miR302d3p regulates the viability, migration and apoptosis of breast cancer cells through regulating the TMBIM6mediated ERK signaling pathway.
      Title: miR‑302d‑3p regulates the viability, migration and apoptosis of breast cancer cells through regulating the TMBIM6‑mediated ERK signaling pathway.
    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.
    4. TMBIM6 (transmembrane BAX inhibitor motif containing 6) enhances autophagy through regulation of lysosomal calcium.
      Title: TMBIM6 (transmembrane BAX inhibitor motif containing 6) enhances autophagy through regulation of lysosomal calcium.
    5. RBM15 facilitates laryngeal squamous cell carcinoma progression by regulating TMBIM6 stability through IGF2BP3 dependent.
      Title: RBM15 facilitates laryngeal squamous cell carcinoma progression by regulating TMBIM6 stability through IGF2BP3 dependent.
    6. Long non-coding RNA plasmacytoma variant translocation 1 (PVT1) promotes glioblastoma multiforme progression via regulating miR-1301-3p/TMBIM6 axis.
      Title: Long non-coding RNA plasmacytoma variant translocation 1 (PVT1) promotes glioblastoma multiforme progression via regulating miR-1301-3p/TMBIM6 axis.
    7. Quercetin Improves Cardiomyocyte Vulnerability to Hypoxia by Regulating SIRT1/TMBIM6-Related Mitophagy and Endoplasmic Reticulum Stress.
      Title: Quercetin Improves Cardiomyocyte Vulnerability to Hypoxia by Regulating SIRT1/TMBIM6-Related Mitophagy and Endoplasmic Reticulum Stress.
    8. TMBIM6, a potential virus target protein identified by integrated multiomics data analysis in SARS-CoV-2-infected host cells.
      Title: TMBIM6, a potential virus target protein identified by integrated multiomics data analysis in SARS-CoV-2-infected host cells.
    9. Bax inhibitor 1 preserves mitochondrial homeostasis in acute kidney injury through promoting mitochondrial retention of PHB2.
      Title: Bax inhibitor 1 preserves mitochondrial homeostasis in acute kidney injury through promoting mitochondrial retention of PHB2.
    10. BAX inhibitor-1: between stress and survival.
      Title: BAX inhibitor-1: between stress and survival.
    Submit: New GeneRIF Correction See all GeneRIFs (46)

    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

    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 endoribonuclease inhibitor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables endoribonuclease inhibitor activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables enzyme binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables ubiquitin protein ligase binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in 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 IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in endoplasmic reticulum calcium ion homeostasis IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of RNA splicing IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in negative regulation of apoptotic process IGI
    Inferred from Genetic Interaction
    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 apoptotic signaling pathway IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    acts_upstream_of_or_within negative regulation of calcium ion transport into cytosol IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in negative regulation of endoribonuclease activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in negative regulation of endoribonuclease activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in negative regulation of hypoxia-induced intrinsic apoptotic signaling pathway IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in negative regulation of immunoglobulin production IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of protein binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in neuron intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in response to L-glutamate IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in endoplasmic reticulum membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in endoplasmic reticulum membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in membrane HDA PubMed 
    located_in membrane NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    located_in mitochondrial membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nucleus TAS
    Traceable Author Statement
    more info
    		 PubMed 
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    bax inhibitor 1
    Names
    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)

    1. NM_001098576.2 → NP_001092046.1  bax inhibitor 1 isoform 2

      See identical proteins and their annotated locations for NP_001092046.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses a different segment for the 5' UTR and 5' coding region, compared to variant 1. The resulting protein (isoform 2) is longer and has a distinct N-terminus when it is compared to isoform 1.
      Source sequence(s)
      AA057740, BC036203, DC319835, DC349385
      Consensus CDS
      CCDS44875.1
      UniProtKB/TrEMBL
      B3KWE3
      Related
      ENSP00000389277.1, ENST00000423828.5
      Conserved Domains (1) summary
      cd10430
      Location:74 → 286
      BI-1; BAX inhibitor (BI)-1

    2. NM_001414462.1 → NP_001401391.1  bax inhibitor 1 isoform 1

      Status: VALIDATED

      Source sequence(s)
      AC084037, AC131157
      UniProtKB/Swiss-Prot
      B2R5M4, F8W034, O14938, P55061, Q643A7, Q96J50
      Related
      ENSP00000448036.1, ENST00000549385.5

    3. NM_001414463.1 → NP_001401392.1  bax inhibitor 1 isoform 1

      Status: VALIDATED

      Source sequence(s)
      AC084037, AC131157
      UniProtKB/Swiss-Prot
      B2R5M4, F8W034, O14938, P55061, Q643A7, Q96J50

    4. NM_001414464.1 → NP_001401393.1  bax inhibitor 1 isoform 1

      Status: VALIDATED

      Source sequence(s)
      AC084037, AC131157
      UniProtKB/Swiss-Prot
      B2R5M4, F8W034, O14938, P55061, Q643A7, Q96J50

    5. NM_003217.3 → NP_003208.2  bax inhibitor 1 isoform 1

      See identical proteins and their annotated locations for NP_003208.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the predominant transcript and it encodes the shorter protein (isoform 1).
      Source sequence(s)
      AA057740, AK130050, BQ613936
      Consensus CDS
      CCDS31797.1
      UniProtKB/Swiss-Prot
      B2R5M4, F8W034, O14938, P55061, Q643A7, Q96J50
      UniProtKB/TrEMBL
      B3KWE3
      Related
      ENSP00000267115.5, ENST00000267115.10
      Conserved Domains (1) summary
      cd10430
      Location:16 → 228
      BI-1; BAX inhibitor (BI)-1

    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_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      49741557..49764934
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005269126.5 → XP_005269183.1  bax inhibitor 1 isoform X1

      See identical proteins and their annotated locations for XP_005269183.1

      UniProtKB/TrEMBL
      B3KWE3
      Related
      ENSP00000446734.1, ENST00000552699.5
      Conserved Domains (1) summary
      cd10430
      Location:74 → 286
      BI-1; BAX inhibitor (BI)-1

    2. XM_047429491.1 → XP_047285447.1  bax inhibitor 1 isoform X2

      UniProtKB/Swiss-Prot
      B2R5M4, F8W034, O14938, P55061, Q643A7, Q96J50

    3. XM_047429492.1 → XP_047285448.1  bax inhibitor 1 isoform X2

      UniProtKB/Swiss-Prot
      B2R5M4, F8W034, O14938, P55061, Q643A7, Q96J50

    4. XM_047429493.1 → XP_047285449.1  bax inhibitor 1 isoform X2

      UniProtKB/Swiss-Prot
      B2R5M4, F8W034, O14938, P55061, Q643A7, Q96J50

    5. XM_024449174.2 → XP_024304942.1  bax inhibitor 1 isoform X2

      UniProtKB/Swiss-Prot
      B2R5M4, F8W034, O14938, P55061, Q643A7, Q96J50
      UniProtKB/TrEMBL
      B3KWE3
      Related
      ENSP00000450158.2, ENST00000552370.5
      Conserved Domains (1) summary
      cd10430
      Location:16 → 228
      BI-1; BAX inhibitor (BI)-1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      49704579..49727957
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054373111.1 → XP_054229086.1  bax inhibitor 1 isoform X1

    2. XM_054373113.1 → XP_054229088.1  bax inhibitor 1 isoform X2

      UniProtKB/Swiss-Prot
      B2R5M4, F8W034, O14938, P55061, Q643A7, Q96J50

    3. XM_054373112.1 → XP_054229087.1  bax inhibitor 1 isoform X2

      UniProtKB/Swiss-Prot
      B2R5M4, F8W034, O14938, P55061, Q643A7, Q96J50
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P55061.2 GenPept UniProtKB/Swiss-Prot:P55061

    Gene LinkOut

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

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