TSNAXIP1 Gene - Translin-Associated Factor X Interacting Protein 1
Comprehensive gene overview of TSNAXIP1: function, expression, mutations, and associated diseases
Gene Information Card
| Symbol | TSNAXIP1 |
|---|---|
| Full Name | Translin-Associated Factor X Interacting Protein 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 16q23.1 |
| NCBI Gene ID | 55815 ncbi.nlm.nih.gov/gene/55815 |
| Ensembl ID | ENSG00000140937 |
| UniProt ID | Q9BXT8 |
| OMIM ID | 610949 |
| HGNC ID | 28909 |
| Aliases | TXBP181, KIAA1876, FLJ32642 |
Description
TSNAXIP1 (Translin-Associated Factor X Interacting Protein 1) is a protein-coding gene located on chromosome 16q23.1. The encoded protein interacts with translin-associated factor X (TSNAX) and is involved in RNA metabolism and intracellular transport. TSNAXIP1 is widely expressed in various tissues and has been implicated in cellular processes including mRNA localization and translational regulation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease association reported in OMIM or ClinVar | Not applicable | No evidence |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain | 8.2 | Low |
| Lung | 6.1 | Low |
| Liver | 4.3 | Low |
| Kidney | 3.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 10.1 | Moderate expression |
| HeLa | 7.5 | Low expression |
| K562 | 5.8 | Low expression |
| A549 | 4.2 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| No pathogenic mutations reported in ClinVar | Not applicable | Not applicable | Not applicable |
Mutation functional classification
Loss of Function (LOF)
No data available
Gain of Function (GOF)
No data available
Dominant Negative (DN)
No data available
View complete mutation data：
Gene Ontology (GO)
| • RNA binding | • protein binding |
| • cytoplasm | • nucleus |
Pathways
• No specific pathway annotations in Reactome or KEGG
Protein Summary
TSNAXIP1 encodes a 181 kDa protein that interacts with translin-associated factor X (TSNAX). The protein contains coiled-coil domains and is localized to both cytoplasm and nucleus. It is thought to participate in RNA transport and localization, though its precise molecular function remains under investigation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TSNAXIP1 Knockout HEK293 Cell Line | EDJ-KQ15954 | Human | 55815 | Details Get a Quote |
| TSNAXIP1 Knockout A-549 Cell Line | EDJ-KQ46982 | Human | 55815 | Details Get a Quote |
| TSNAXIP1 Knockout HCT 116 Cell Line | EDJ-KQ46983 | Human | 55815 | Details Get a Quote |
| TSNAXIP1 Knockout HeLa Cell Line | EDJ-KQ56637 | Human | 55815 | Details Get a Quote |
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