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GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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TPRX1
tetrapeptide repeat homeobox 1
Chromosome 19 · 19q13.33
NCBI Gene: 284355Ensembl: ENSG00000178928.9HGNC: HGNC:32174UniProt: A0A8V8TMK4
10PubMed Papers
4Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transcription Factor
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
maternal-to-zygotic transition of gene expressionDNA-binding transcription factor activity, RNA polymerase II-specificchromatinnucleoplasmchronic intestinal vascular insufficiencytype 1 diabetes mellituscancerfacioscapulohumeral muscular dystrophy
✦AI Summary

TPRX1 (tetrapeptide repeat homeobox 1) is a critical transcription factor that regulates zygotic genome activation (ZGA) during early human embryonic development. TPRX1 belongs to the eutherian totipotent cell homeobox (ETCHbox) family and is highly translated around the time of ZGA 1. As a key executor of ZGA gene networks, TPRX1 binds to regulatory DNA sequences containing the 5'-TAATCC-3' motif and activates expression of essential ZGA marker genes including NANOGNB, ZSCAN4, DUXB, KLF5, and DPPA3 1. Loss-of-function studies demonstrate that TPRX1 knockdown leads to defective ZGA and impaired preimplantation development 1. TPRX1 serves as a marker protein for human 8-cell-like cells (8CLCs), which transcriptionally resemble 8-cell human embryos and express ZGA markers 2. The gene is regulated by maternal transcription factor OTX2, which promotes TPRX1 activation at the four-cell stage 3. Notably, TPRX1 is absent in mice but present in humans, highlighting species-specific regulation of early embryogenesis 4. This transcription factor represents a fundamental component of the molecular machinery controlling the maternal-to-zygotic transition, making it essential for successful human embryonic development and totipotency establishment.

Sources cited
1
TPRX1 is highly translated around ZGA, binds 5'-TAATCC-3' motif, activates ZGA genes, and knockdown causes defective ZGA
PMID: 36074823
2
TPRX1 serves as a marker protein for human 8-cell-like cells that resemble 8-cell human embryos
PMID: 35216671
3
TPRX1 is an ETCHbox family transcription factor absent in mice and acts as key executor of ZGA gene networks
PMID: 35314832
4
OTX2 promotes TPRX1 activation at the four-cell stage during human embryonic genome activation
PMID: 41145868
⚠Limited data available — This gene has 4 indexed publications. Summary and analysis may be incomplete.
Disease Associationsⓘ4
chronic intestinal vascular insufficiencyOpen Targets
0.06Suggestive
type 1 diabetes mellitusOpen Targets
0.04Suggestive
cancerOpen Targets
0.00Suggestive
facioscapulohumeral muscular dystrophyOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
CRXProtein interaction89%TPRX2Co-mentioned in literature80%DUXBProtein interaction78%LEUTXProtein interaction76%ARGFXProtein interaction66%DPRXProtein interaction65%
Tissue Expression6 tissues
Ovary
100%
Liver
100%
Lung
67%
Bone Marrow
0%
Heart
0%
Brain
0%
Gene Interaction Network
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TPRX1CRXTPRX2DUXBLEUTXARGFXDPRX
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt Q8N7U7
View on AlphaFold ↗
RankingsWhere TPRX1 stands among ~20K protein-coding genes
  • #17,207of 20,598
    Most Researched10
Genes detectedTPRX1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Translatome and transcriptome co-profiling reveals a role of TPRXs in human zygotic genome activation.
PMID: 36074823
Science · 2022
1.00
2
8C-like cells capture the human zygotic genome activation program in vitro.
PMID: 35216671
Cell Stem Cell · 2022
0.90
3
Rolling back human pluripotent stem cells to an eight-cell embryo-like stage.
PMID: 35314832
Nature · 2022
0.80
4
Maternal factor OTX2 regulates human embryonic genome activation and early development.
PMID: 41145868
Nat Genet · 2025
0.70
5
The dynamics of vertebrate homeobox gene evolution: gain and loss of genes in mouse and human lineages.
PMID: 21679462
BMC Evol Biol · 2011
0.60