PTCRA (Pre T Cell Antigen Receptor Alpha)
Key regulator of early T-cell development and thymocyte selection
Gene Information Card
| Symbol | PTCRA |
|---|---|
| Full Name | Pre T Cell Antigen Receptor Alpha |
| Gene Type | Protein coding |
| Chromosomal Location | 6p21.1 |
| NCBI Gene ID | 171558 ncbi.nlm.nih.gov/gene/171558 |
| Ensembl ID | ENSG00000171611 |
| UniProt ID | Q6ISU1 |
| OMIM ID | 601870 |
| HGNC ID | 9590 |
| Aliases | pTα, pTCRα, pre-TCRα |
Description
PTCRA encodes the pre T-cell antigen receptor alpha (pTα) chain, a transmembrane glycoprotein that pairs with the T-cell receptor beta chain to form the pre-T-cell receptor complex. This complex is essential for early thymocyte development, including β-selection, survival, and maturation from the double-negative (DN) to double-positive (DP) stage. pTα is expressed transiently during T-cell development and is downregulated after positive selection.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| T-cell acute lymphoblastic leukemia (T-ALL) | Aberrant PTCRA expression or mutations may disrupt pre-TCR signaling, contributing to leukemogenesis. | ClinVar, COSMIC |
| Severe combined immunodeficiency (SCID) | Loss-of-function mutations in PTCRA impair pre-TCR formation, blocking early T-cell development. | OMIM, NCBI |
| Autoimmune lymphoproliferative syndrome (ALPS) | Dysregulation of pre-TCR signaling may alter thymic selection, predisposing to autoimmunity. | NCBI, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Thymus | 12.5 | High |
| Spleen | 1.2 | Low |
| Lymph node | 0.8 | Low |
| Bone marrow | 0.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Jurkat (T-cell leukemia) | 8.3 | pTα expression detected |
| MOLT-4 (T-cell lymphoblast) | 6.7 | Moderate expression |
| K562 (erythroleukemia) | 0.1 | No significant expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | <0.1% | Loss of start codon, likely loss of function |
| c.200C>T (p.Pro67Leu) | Missense | <0.1% | Alters transmembrane domain, unknown significance |
| c.340_341del (p.Gln114fs) | Frameshift | <0.1% | Truncation, loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations that truncate pTα impair pre-TCR assembly and signaling, blocking T-cell development.
Gain of Function (GOF)
Not reported in PTCRA.
Dominant Negative (DN)
Not reported in PTCRA.
View complete mutation data：
Gene Ontology (GO)
| • transmembrane signaling receptor activity (GO:0004888) | • cell surface receptor signaling pathway (GO:0007166) |
| • cell surface (GO:0009986) | • integral component of membrane (GO:0016021) |
| • T cell activation (GO:0042110) | • T cell selection (GO:0045058) |
| • alpha-beta T cell activation (GO:0046631) |
Pathways
• Pre-TCR signaling during T-cell development (Reactome: R-HSA-202430)
• T-cell receptor signaling pathway (KEGG: hsa04660)
Protein Summary
The pre T-cell antigen receptor alpha (pTα) is a 33 kDa type I transmembrane protein encoded by PTCRA. It consists of a single extracellular immunoglobulin-like domain, a transmembrane region, and a short cytoplasmic tail. pTα pairs with the T-cell receptor beta chain to form the pre-TCR complex, which signals through CD3 molecules to promote thymocyte survival, proliferation, and differentiation. pTα expression is tightly regulated and largely restricted to immature thymocytes.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PTCRA Knockout HEK293 Cell Line | EDJ-KQ14953 | Human | 171558 | Details Get a Quote |
| PTCRA Knockout HeLa Cell Line | EDJ-KQ58957 | Human | 171558 | Details Get a Quote |
| PTCRA Knockout A-549 Cell Line | EDJ-KQ67444 | Human | 171558 | Details Get a Quote |
| PTCRA Knockout HCT 116 Cell Line | EDJ-KQ75839 | Human | 171558 | Details Get a Quote |
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