TPRX1: Tetrapeptide Repeat Homeobox 1
A primate-specific homeobox gene with potential roles in early embryonic development and cancer.
Gene Information Card
| Symbol | TPRX1 |
|---|---|
| Full Name | Tetrapeptide Repeat Homeobox 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 19q13.33 |
| NCBI Gene ID | 284355 ncbi.nlm.nih.gov/gene/284355 |
| Ensembl ID | ENSG00000188282 |
| UniProt ID | Q5VYV7 |
| OMIM ID | 616647 |
| HGNC ID | 31865 |
| Aliases | TPRX, TPRX1A, TPRX1B |
Description
TPRX1 (tetrapeptide repeat homeobox 1) is a primate-specific homeobox gene located on chromosome 19q13.33. It encodes a transcription factor containing a homeodomain and tetrapeptide repeats, thought to be involved in early embryonic development and potentially in cancer biology. Expression is largely restricted to testis and certain cancer cell lines.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (general) | Overexpression in various tumors; possible oncogenic role via transcriptional dysregulation | COSMIC; literature |
| Testicular germ cell tumors | Elevated expression in seminomas; potential biomarker | COSMIC; PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 15.2 | Medium |
| Brain | 0.8 | Not detected |
| Lung | 0.5 | Not detected |
| Liver | 0.3 | Not detected |
| Kidney | 0.4 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| NTERA-2 (embryonal carcinoma) | 25.1 | High expression |
| A549 (lung carcinoma) | 0.2 | Low expression |
| HeLa (cervical carcinoma) | 0.1 | Not detected |
| MCF7 (breast carcinoma) | 0.3 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | missense | <0.1% | Potential loss of start codon; effect unknown |
| c.100C>T (p.Arg34Trp) | missense | <0.1% | Rare; no known functional impact |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in ClinVar or COSMIC.
Gain of Function (GOF)
Overexpression in testicular tumors suggests possible gain-of-function role.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • DNA-binding transcription factor activity (GO:0003700) | • sequence-specific DNA binding (GO:0043565) |
| • nucleus (GO:0005634) | • DNA-templated (GO:0006355) |
Pathways
• No specific pathways curated in Reactome or KEGG for TPRX1.
Protein Summary
TPRX1 is a 299-amino acid protein containing a homeodomain and tetrapeptide repeats. It localizes to the nucleus and functions as a transcription factor. Expression is largely restricted to testis and embryonic stem cell-like lines, suggesting a role in early development. Its primate-specific nature indicates a recent evolutionary origin.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TPRX1 Knockout HEK293 Cell Line | EDJ-KQ15898 | Human | 284355 | Details Get a Quote |
| TPRX1 Knockout HeLa Cell Line | EDJ-KQ59455 | Human | 284355 | Details Get a Quote |
| TPRX1 Knockout A-549 Cell Line | EDJ-KQ67920 | Human | 284355 | Details Get a Quote |
| TPRX1 Knockout HCT 116 Cell Line | EDJ-KQ76298 | Human | 284355 | Details Get a Quote |
