TRPS1 Gene - Transcriptional Repressor GATA Binding 1
Key regulator of chondrocyte differentiation and hair follicle development; associated with tricho-rhino-phalangeal syndrome
Gene Information Card
| Symbol | TRPS1 |
|---|---|
| Full Name | Transcriptional Repressor GATA Binding 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 8q23.3 |
| NCBI Gene ID | 7227 ncbi.nlm.nih.gov/gene/7227 |
| Ensembl ID | ENSG00000104447 |
| UniProt ID | Q9UHF7 |
| OMIM ID | 604386 |
| HGNC ID | 12340 |
| Aliases | LGCR, TRPS1, GC79 |
Description
The TRPS1 gene encodes a zinc finger transcription factor that represses GATA-regulated genes. It is essential for normal skeletal development, particularly chondrocyte differentiation, and for hair follicle morphogenesis. Mutations in TRPS1 cause tricho-rhino-phalangeal syndrome types I and III, characterized by craniofacial abnormalities, sparse hair, and skeletal anomalies.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Tricho-rhino-phalangeal syndrome type I | Haploinsufficiency due to loss-of-function mutations in TRPS1 | OMIM #190350 |
| Tricho-rhino-phalangeal syndrome type III | Dominant-negative or severe loss-of-function mutations in TRPS1 | OMIM #190351 |
| Breast cancer | TRPS1 overexpression may promote tumor growth; exact mechanism under investigation | COSMIC; ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Bone marrow | 0.0 | Not detected |
| Breast | 12.5 | Medium |
| Kidney | 8.3 | Low |
| Lung | 6.1 | Low |
| Skin | 15.2 | Medium |
| Testis | 20.4 | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| MCF7 (breast cancer) | 18.7 | High expression |
| HEK293 (embryonic kidney) | 9.2 | Moderate expression |
| A549 (lung cancer) | 5.4 | Low expression |
| K562 (leukemia) | 0.3 | Not expressed |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.2762C>T (p.Pro921Leu) | Missense | Rare | Loss of DNA-binding activity |
| c.1081C>T (p.Arg361*) | Nonsense | Rare | Premature truncation, loss of function |
| c.2929_2930delAG (p.Ser977fs) | Frameshift | Rare | Loss of function |
| Whole gene deletion | Copy number loss | Rare | Haploinsufficiency |
Mutation functional classification
Loss of Function (LOF)
Most TRPS1 mutations are loss-of-function, leading to haploinsufficiency and tricho-rhino-phalangeal syndrome.
Gain of Function (GOF)
Not reported for TRPS1.
Dominant Negative (DN)
Some missense mutations in the GATA zinc finger domain act as dominant-negative, causing more severe type III syndrome.
View complete mutation data：
Gene Ontology (GO)
Pathways
• GATA transcription factor network
• Chondrocyte differentiation pathway
• Hair follicle development pathway
Protein Summary
TRPS1 is a 1281-amino acid nuclear protein containing two C2H2-type zinc finger domains and a GATA-type zinc finger domain. It acts as a transcriptional repressor by binding to GATA consensus sequences and recruiting co-repressors. The protein is critical for endochondral ossification and hair follicle cycling. Mutations disrupt its repressor function, leading to developmental abnormalities.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TRPS1 Knockout HEK293 Cell Line | EDJ-KQ3901 | Human | 7227 | Details Get a Quote |
| TRPS1 Knockout HeLa Cell Line | EDJ-KQ26119 | Human | 7227 | Details Get a Quote |
| TRPS1 Knockout A-549 Cell Line | EDJ-KQ63183 | Human | 7227 | Details Get a Quote |
| TRPS1 Knockout HCT 116 Cell Line | EDJ-KQ71655 | Human | 7227 | Details Get a Quote |
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