TNFAIP8L1 Gene - TIPE1: Structure, Function, and Clinical Relevance
A comprehensive biomedical resource on TNFAIP8L1 (TIPE1), covering gene architecture, expression, mutations, and disease associations.
Gene Information Card
| Symbol | TNFAIP8L1 |
|---|---|
| Full Name | TNF alpha induced protein 8 like 1 |
| Gene Type | protein coding |
| Chromosomal Location | 19p13.3 |
| NCBI Gene ID | 126282 ncbi.nlm.nih.gov/gene/126282 |
| Ensembl ID | ENSG00000185379 |
| UniProt ID | Q6P5W5 |
| OMIM ID | 614350 |
| HGNC ID | 28280 |
| Aliases | TIPE1, FLJ30656 |
Description
TNFAIP8L1 (TNF alpha induced protein 8 like 1), commonly known as TIPE1, is a protein-coding gene located on chromosome 19p13.3. It belongs to the TNFAIP8/TIPE family, characterized by a conserved DUF758 domain. TIPE1 is involved in the regulation of apoptosis, immune responses, and cell proliferation. It is expressed in various tissues, with notable levels in the spleen, lymph nodes, and bone marrow. TIPE1 has been implicated in several cancers, acting as a tumor suppressor in some contexts and as an oncogene in others, depending on the tissue and cellular environment.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hepatocellular carcinoma | TIPE1 downregulation promotes tumor growth and metastasis; acts as a tumor suppressor by inhibiting RAS/Raf/MEK/ERK pathway and inducing apoptosis. | PMID: 27663642; 28925384 |
| Colorectal cancer | Reduced TIPE1 expression correlates with poor prognosis; TIPE1 inhibits cell proliferation and invasion via modulation of Wnt/β-catenin signaling. | PMID: 29328394 |
| Gastric cancer | TIPE1 overexpression suppresses cell growth and migration; low expression is associated with advanced tumor stage and lymph node metastasis. | PMID: 30575783 |
| Breast cancer | TIPE1 inhibits epithelial-mesenchymal transition (EMT) and metastasis; its loss enhances cancer cell invasiveness. | PMID: 31209412 |
| Lung cancer | TIPE1 expression is decreased in non-small cell lung cancer; restoration induces apoptosis and inhibits tumorigenesis. | PMID: 28622351 |
| Immune regulation | TIPE1 modulates T cell receptor signaling and cytokine production, influencing inflammatory responses. | PMID: 23180805 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Spleen | 29.7 | High |
| Lymph node | 25.3 | High |
| Bone marrow | 20.1 | Medium |
| Appendix | 18.4 | Medium |
| Lung | 12.5 | Medium |
| Liver | 8.2 | Low |
| Brain | 2.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K-562 | 15.2 | Chronic myelogenous leukemia; moderate expression |
| HeLa | 8.7 | Cervical adenocarcinoma; low expression |
| A549 | 6.3 | Lung carcinoma; low expression |
| HepG2 | 4.1 | Hepatocellular carcinoma; very low expression |
| MCF7 | 3.5 | Breast adenocarcinoma; very low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1Val) | Missense | 0.001% (gnomAD) | Potential loss of start codon; may affect translation initiation |
| c.215C>T (p.Pro72Leu) | Missense | 0.002% (gnomAD) | Located in DUF758 domain; may alter protein stability |
| c.389A>G (p.Asn130Ser) | Missense | 0.001% (gnomAD) | In conserved region; functional impact unknown |
| c.523G>A (p.Ala175Thr) | Missense | 0.0005% (gnomAD) | Near C-terminus; may affect protein interactions |
Mutation functional classification
Loss of Function (LOF)
Loss-of-function mutations in TNFAIP8L1 are not well characterized; however, reduced expression or epigenetic silencing is common in cancers, leading to loss of tumor suppressive functions.
Gain of Function (GOF)
Gain-of-function mutations are rare; overexpression of TIPE1 in certain contexts can promote apoptosis and inhibit proliferation, but no activating mutations have been reported.
Dominant Negative (DN)
No dominant-negative mutations have been described for TNFAIP8L1.
View complete mutation data：
Gene Ontology (GO)
| • apoptotic process | • negative regulation of cell proliferation |
| • regulation of immune response | • signal transduction |
| • protein binding | • GTPase activator activity |
Pathways
• RAS/Raf/MEK/ERK signaling
• Wnt/β-catenin signaling
• T cell receptor signaling
• Apoptosis regulation
Protein Summary
The TNFAIP8L1 protein (TIPE1) is a 237-amino acid protein containing a DUF758 domain. It is predominantly cytosolic and functions as a regulator of cell death and immune responses. TIPE1 interacts with RAS and modulates the RAF/MEK/ERK pathway, thereby influencing cell proliferation and survival. It also plays a role in T cell receptor signaling by affecting NF-κB and AP-1 activation. TIPE1 is expressed in immune tissues and is downregulated in several cancers, where it acts as a tumor suppressor. Its expression is regulated by TNF-α and other inflammatory stimuli.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TNFAIP8L1 Knockout HEK293 Cell Line | EDJ-KQ8885 | Human | 126282 | Details Get a Quote |
| TNFAIP8L1 Knockout A-549 Cell Line | EDJ-KQ35208 | Human | 126282 | Details Get a Quote |
| TNFAIP8L1 Knockout HCT 116 Cell Line | EDJ-KQ35209 | Human | 126282 | Details Get a Quote |
| TNFAIP8L1 Knockout HeLa Cell Line | EDJ-KQ35210 | Human | 126282 | Details Get a Quote |
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