TMBIM1
Transmembrane BAX Inhibitor Motif Containing 1
Gene Information Card
| Symbol | TMBIM1 |
|---|---|
| Full Name | Transmembrane BAX Inhibitor Motif Containing 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 2q37.3 |
| NCBI Gene ID | 64114 ncbi.nlm.nih.gov/gene/64114 |
| Ensembl ID | ENSG00000115956 |
| UniProt ID | Q969X1 |
| OMIM ID | 610364 |
| HGNC ID | 23473 |
| Aliases | RECS1, PP1201, LFG1 |
Description
TMBIM1 (Transmembrane BAX Inhibitor Motif Containing 1) is a protein-coding gene that encodes a member of the BAX inhibitor family. The protein localizes to the Golgi apparatus and endoplasmic reticulum and is involved in the regulation of apoptosis, cell survival, and calcium homeostasis. It acts as an anti-apoptotic factor by inhibiting BAX-mediated cell death.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hepatocellular carcinoma | Overexpression of TMBIM1 inhibits apoptosis, promoting tumor cell survival | PMID: 25605247 |
| Colorectal cancer | TMBIM1 upregulation correlates with poor prognosis and resistance to chemotherapy | PMID: 28925395 |
| Gastric cancer | TMBIM1 expression is associated with tumor progression and metastasis | PMID: 30131739 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Colon | 8.3 | Low |
| Stomach | 9.1 | Low |
| Brain | 4.2 | Low |
| Heart | 6.7 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 15.2 | Hepatocellular carcinoma cell line |
| HCT116 | 10.5 | Colorectal carcinoma cell line |
| MCF7 | 7.8 | Breast cancer cell line |
| A549 | 6.3 | Lung carcinoma cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.287A>G (p.Asn96Ser) | Missense | 0.01% (gnomAD) | Unknown functional effect |
| c.455C>T (p.Pro152Leu) | Missense | 0.005% (gnomAD) | Unknown functional effect |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in TMBIM1.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported in TMBIM1.
Dominant Negative (DN)
No confirmed dominant-negative mutations reported in TMBIM1.
View complete mutation data：
Gene Ontology (GO)
| • apoptosis inhibition | • regulation of calcium ion transport |
| • Golgi apparatus | • endoplasmic reticulum |
| • protein homodimerization activity |
Pathways
• Apoptosis regulation
• BAX inhibitor pathway
Protein Summary
The TMBIM1 protein is a 237-amino acid transmembrane protein with a BAX inhibitor motif. It contains a conserved domain that interacts with BAX, preventing its translocation to mitochondria and subsequent cytochrome c release. The protein is predominantly expressed in the Golgi and ER, where it modulates calcium flux and protects cells from ER stress-induced apoptosis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TMBIM1 Knockout HEK293 Cell Line | EDJ-KQ15750 | Human | 64114 | Details Get a Quote |
| TMBIM1 Knockout A-549 Cell Line | EDJ-KQ46677 | Human | 64114 | Details Get a Quote |
| TMBIM1 Knockout HCT 116 Cell Line | EDJ-KQ46678 | Human | 64114 | Details Get a Quote |
| TMBIM1 Knockout HeLa Cell Line | EDJ-KQ46679 | Human | 64114 | Details Get a Quote |
