TESPA1: Thymocyte Expressed, Positive Selection Associated 1
A key regulator of T-cell development and immune signaling
Gene Information Card
| Symbol | TESPA1 |
|---|---|
| Full Name | Thymocyte Expressed, Positive Selection Associated 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 12q13.13 |
| NCBI Gene ID | 9840 ncbi.nlm.nih.gov/gene/9840 |
| Ensembl ID | ENSG00000135446 |
| UniProt ID | Q8IYJ3 |
| OMIM ID | 609948 |
| HGNC ID | 25808 |
| Aliases | FLJ11273, MGC138290, MGC138291 |
Description
TESPA1 (Thymocyte Expressed, Positive Selection Associated 1) is a protein-coding gene located on chromosome 12q13.13. It encodes a protein involved in T-cell receptor (TCR) signaling and thymocyte positive selection. TESPA1 is essential for proper T-cell development and immune response regulation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Immunodeficiency | Impaired T-cell development and function due to TESPA1 deficiency | PMID: 25605293 |
| Autoimmune disorders | Dysregulation of TCR signaling leading to altered immune tolerance | PMID: 25605293 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Thymus | 12.5 | Medium |
| Spleen | 8.2 | Low |
| Lymph node | 7.1 | Low |
| Bone marrow | 5.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Jurkat T cells | 15.0 | T-cell line |
| Raji B cells | 2.1 | B-cell line |
| HEK293 | 1.5 | Embryonic kidney cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.337C>T (p.Arg113*) | Nonsense | Rare | Loss of function |
| c.502G>A (p.Gly168Arg) | Missense | Rare | Unknown |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutation p.Arg113* leads to premature stop codon and truncated protein, impairing TCR signaling.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • adaptive immune response (GO:0002250) | • cytoplasm (GO:0005737) |
| • protein binding (GO:0005515) | • alpha-beta T cell receptor complex (GO:0042105) |
| • T cell receptor signaling pathway (GO:0050852) |
Pathways
• T-cell receptor signaling pathway (Reactome: R-HSA-202403)
• Thymic T-cell selection (Reactome: R-HSA-202430)
Protein Summary
TESPA1 encodes a 475-amino acid protein that localizes to the cytoplasm and is involved in T-cell receptor signaling. It interacts with components of the TCR complex and is required for positive selection of thymocytes. The protein contains a conserved N-terminal domain and a proline-rich region.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TESPA1 Knockout HEK293 Cell Line | EDJ-KQ6773 | Human | 9840 | Details Get a Quote |
| TESPA1 Knockout HeLa Cell Line | EDJ-KQ55264 | Human | 9840 | Details Get a Quote |
| TESPA1 Knockout A-549 Cell Line | EDJ-KQ63744 | Human | 9840 | Details Get a Quote |
| TESPA1 Knockout HCT 116 Cell Line | EDJ-KQ72203 | Human | 9840 | Details Get a Quote |
