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

Gene ID: 7009, updated on 3-Apr-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 RNA metabolic process; negative regulation of intrinsic apoptotic signaling pathway; 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, Apr 2022]
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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Location:
12q13.12
Exon count:
15
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (49741557..49764934)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (49704579..49727957)
105.20220307 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
  • 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. TMBIM6, a potential virus target protein identified by integrated multiomics data analysis in SARS-CoV-2-infected host cells. Han Q, et al. Aging (Albany NY), 2021 Mar 19. PMID 33744846, Free PMC Article
  2. TMBIM6/BI-1 contributes to cancer progression through assembly with mTORC2 and AKT activation. Kim HK, et al. Nat Commun, 2020 Aug 11. PMID 32782388, Free PMC Article
  3. Bax inhibitor 1 preserves mitochondrial homeostasis in acute kidney injury through promoting mitochondrial retention of PHB2. Wang J, et al. Theranostics, 2020. PMID 31903127, Free PMC Article
  4. BAX inhibitor-1: between stress and survival. Lebeaupin C, et al. FEBS J, 2020 May. PMID 31841271, Free PMC Article
  5. Bax inhibitor-1 is overexpressed in non-small cell lung cancer and promotes its progression and metastasis. Lu B, et al. Int J Clin Exp Pathol, 2015. PMID 25973025, Free PMC Article

See all (71) 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 endoribonuclease inhibitor activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables enzyme binding IBA
Inferred from Biological aspect of Ancestor
more info
  
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 IBA
Inferred from Biological aspect of Ancestor
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 
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 
is_active_in mitochondrial membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
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_2023_10

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

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