TNFAIP1
TNF Alpha Induced Protein 1
Gene Information Card
| Symbol | TNFAIP1 |
|---|---|
| Full Name | TNF Alpha Induced Protein 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 17q23.2 |
| NCBI Gene ID | 7126 ncbi.nlm.nih.gov/gene/7126 |
| Ensembl ID | ENSG00000109099 |
| UniProt ID | Q13829 |
| OMIM ID | 191170 |
| HGNC ID | 11896 |
| Aliases | B12, BTBD34 |
Description
TNFAIP1 (TNF Alpha Induced Protein 1) is a protein-coding gene located on chromosome 17q23.2. The encoded protein is induced by tumor necrosis factor alpha (TNF-alpha) and contains a BTB/POZ domain. It is involved in various cellular processes including apoptosis, cell proliferation, and DNA damage response. TNFAIP1 is also known as B12 or BTBD34.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hepatocellular carcinoma | TNFAIP1 overexpression promotes cell proliferation and inhibits apoptosis via NF-κB pathway | PMID: 25605247 |
| Colorectal cancer | Downregulation of TNFAIP1 correlates with poor prognosis and promotes metastasis | PMID: 29367608 |
| Gastric cancer | TNFAIP1 acts as a tumor suppressor; reduced expression associated with tumor progression | PMID: 27609838 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Colon | 8.3 | Medium |
| Stomach | 6.7 | Low |
| Lung | 5.2 | Low |
| Brain | 2.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 15.4 | Hepatocellular carcinoma cell line |
| HCT116 | 9.8 | Colorectal carcinoma cell line |
| AGS | 7.1 | Gastric adenocarcinoma cell line |
| A549 | 4.3 | Lung carcinoma cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.374C>T (p.Thr125Met) | Missense | 0.01% (gnomAD) | Unknown functional effect |
| c.487G>A (p.Gly163Ser) | Missense | 0.005% (gnomAD) | Unknown functional effect |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in COSMIC or ClinVar.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No confirmed dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
Pathways
• TNF signaling pathway (KEGG: hsa04668)
• NF-kappa B signaling pathway (KEGG: hsa04064)
• Apoptosis (KEGG: hsa04210)
Protein Summary
The TNFAIP1 protein (UniProt Q13829) is a 34 kDa protein containing a BTB/POZ domain. It is localized in the nucleus and cytoplasm. The protein is induced by TNF-alpha and plays roles in apoptosis, cell cycle regulation, and DNA damage response. It interacts with other proteins such as PCNA and may function as a scaffold in signaling complexes.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TNFAIP1 Knockout HEK293 Cell Line | EDJ-KQ5947 | Human | 7126 | Details Get a Quote |
| TNFAIP1 Knockout A-549 Cell Line | EDJ-KQ29499 | Human | 7126 | Details Get a Quote |
| TNFAIP1 Knockout HCT 116 Cell Line | EDJ-KQ29500 | Human | 7126 | Details Get a Quote |
| TNFAIP1 Knockout HeLa Cell Line | EDJ-KQ29501 | Human | 7126 | Details Get a Quote |
