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

Summary

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. Biomarker of cervical squamous cell carcinoma and prostate carcinoma. [provided by Alliance of Genome Resources, Dec 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

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_000012.12 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

Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.
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.
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.
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.
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.
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.
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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D12S1129E (e-PCR)
- UniSTS:473344

D12S1479E (e-PCR)
- UniSTS:153932

RH45303 (e-PCR)
- UniSTS:70047

G32858 (e-PCR)
- UniSTS:117437

A009U42 (e-PCR)
- UniSTS:17602

RH70154 (e-PCR)
- UniSTS:11471

RH11178 (e-PCR)
- UniSTS:77017

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 calcium ion transmembrane transport	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 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 more info	PubMed
located_in membrane	NAS Non-traceable Author Statement 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)

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
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

UniProtKB/TrEMBL

B3KWE3

Related

ENSP00000448036.1, ENST00000549385.5
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

UniProtKB/TrEMBL

B3KWE3
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

UniProtKB/TrEMBL

B3KWE3
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