THRSP (Thyroid Hormone Responsive) Gene
Lipogenic regulator and biomarker in metabolic and neoplastic diseases
Gene Information Card
| Symbol | THRSP |
|---|---|
| Full Name | Thyroid Hormone Responsive |
| Gene Type | protein-coding |
| Chromosomal Location | 11q14.1 |
| NCBI Gene ID | 7069 ncbi.nlm.nih.gov/gene/7069 |
| Ensembl ID | ENSG00000151366 |
| UniProt ID | Q9UKG1 |
| OMIM ID | 601926 |
| HGNC ID | 11797 |
| Aliases | S14, SPOT14, Lpg1 |
Description
THRSP (Thyroid Hormone Responsive) encodes a small nuclear protein that acts as a transcriptional regulator of lipogenic enzymes. It is induced by thyroid hormone and glucose, and plays a key role in de novo fatty acid synthesis in liver, adipose tissue, and mammary gland. Aberrant expression is linked to metabolic disorders and several cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | Overexpression of THRSP promotes lipogenesis and tumor growth in hormone receptor-positive subtypes. | PMID: 25691885; COSMIC |
| Hepatocellular carcinoma | THRSP upregulation correlates with poor prognosis and increased lipid droplet accumulation. | PMID: 30659175; NCBI Gene |
| Non-alcoholic fatty liver disease (NAFLD) | THRSP mediates hepatic steatosis via SREBP-1c and ChREBP pathways. | PMID: 23395179; OMIM |
| Obesity | THRSP expression in adipose tissue is associated with insulin resistance and adipocyte hypertrophy. | PMID: 21788511; ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | High |
| Adipose tissue | 8.3 | Medium |
| Mammary gland | 6.7 | Medium |
| Thyroid | 1.2 | Low |
| Brain | 0.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 15.2 | Hepatocellular carcinoma cell line |
| MCF7 | 9.8 | Breast cancer cell line, estrogen receptor positive |
| 3T3-L1 | 7.5 | Adipocyte precursor cells, differentiated |
| HeLa | 0.3 | Cervical carcinoma, negligible expression |
Data source:Human Protein Atlas(proteinatlas.org)
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | Missense | <0.01% | p.Met1Val; potential loss of start codon |
| c.214C>T | Missense | <0.01% | p.Arg72Cys; ClinVar uncertain significance |
| c.325G>A | Synonymous | 0.02% | No amino acid change; COSMIC |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in THRSP.
Gain of Function (GOF)
Overexpression in breast cancer and HCC suggests oncogenic gain-of-function via lipogenic activation.
Dominant Negative (DN)
No dominant-negative variants described.
View complete mutation data:
Gene Ontology (GO)
Pathways
• Lipogenesis (Reactome: R-HSA-8978868)
• Thyroid hormone signaling pathway (KEGG: hsa04919)
• Insulin signaling pathway (KEGG: hsa04910)
Protein Summary
THRSP is a 17 kDa nuclear protein (150 amino acids) that lacks a canonical DNA-binding domain but interacts with transcription factors such as SREBP-1c and ChREBP to regulate lipogenic gene expression. It is rapidly induced by thyroid hormone (T3) and glucose, and its expression is tissue-specific, highest in liver and adipose. The protein contains a conserved N-terminal region required for nuclear localization and transcriptional activation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| THRSP Knockout HEK293 Cell Line | EDJ-KQ15726 | Human | 7069 | Details Get a Quote |
| THRSP Knockout HeLa Cell Line | EDJ-KQ54658 | Human | 7069 | Details Get a Quote |
| THRSP Knockout A-549 Cell Line | EDJ-KQ63138 | Human | 7069 | Details Get a Quote |
| THRSP Knockout HCT 116 Cell Line | EDJ-KQ71611 | Human | 7069 | Details Get a Quote |