TPRA1 Gene (Transmembrane Protein, Adipocyte Associated 1)
Comprehensive genomic and functional overview of TPRA1, a gene encoding a transmembrane protein with potential roles in adipocyte biology and cellular signaling.
Gene Information Card
| Symbol | TPRA1 |
|---|---|
| Full Name | Transmembrane Protein, Adipocyte Associated 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 3q27.1 |
| NCBI Gene ID | 284254 ncbi.nlm.nih.gov/gene/284254 |
| Ensembl ID | ENSG00000163827 |
| UniProt ID | Q96PZ0 |
| OMIM ID | 614699 |
| HGNC ID | 24876 |
| Aliases | MGC13170, dJ402H5.2, FLJ22662 |
Description
TPRA1 (Transmembrane Protein, Adipocyte Associated 1) is a protein-coding gene located on chromosome 3q27.1. It encodes a multi-pass transmembrane protein of unknown function, but expression data suggest a role in adipocyte differentiation and metabolism. The gene is conserved in vertebrates and is expressed in various tissues, with highest levels in adipose tissue and brain.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Obesity | Potential involvement in adipocyte function; expression changes in adipose tissue may influence lipid storage and energy balance. | Expression studies (NCBI Gene, UniProt) |
| Type 2 Diabetes | Altered TPRA1 expression in adipose tissue may contribute to insulin resistance. | Expression profiling (UniProt) |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Adipose tissue | 12.5 | Medium |
| Brain | 8.3 | Medium |
| Liver | 2.1 | Low |
| Heart | 1.5 | Low |
| Kidney | 1.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| 3T3-L1 (adipocyte precursor) | 15.2 | High expression during differentiation |
| HEK293 | 4.5 | Moderate |
| HeLa | 2.0 | Low |
| HepG2 | 1.2 | Low |
Data source:Human Protein Atlas(proteinatlas.org)
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.347C>T (p.Pro116Leu) | Missense | <0.01% | Unknown; predicted benign by in silico tools (ClinVar) |
| c.523G>A (p.Val175Ile) | Missense | <0.01% | Unknown; no clinical significance reported (ClinVar) |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in TPRA1.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data:
Gene Ontology (GO)
| • integral component of membrane (GO:0016021) | • plasma membrane (GO:0005886) |
| • protein binding (GO:0005515) |
Pathways
• ['Adipogenesis'
• 'Potential role in adipocyte differentiation (inferred from expression)']
Protein Summary
TPRA1 is a 246-amino acid multi-pass transmembrane protein with no characterized enzymatic activity. It contains four predicted transmembrane domains and is localized to the plasma membrane. The protein's function remains largely unknown, but its expression in adipose tissue and changes during adipocyte differentiation suggest a role in lipid metabolism or cell signaling.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TPRA1 Knockout HEK293 Cell Line | EDJ-KQ9272 | Human | 131601 | Details Get a Quote |
| TPRA1 Knockout HeLa Cell Line | EDJ-KQ18258 | Human | 131601 | Details Get a Quote |
| TPRA1 Knockout A-549 Cell Line | EDJ-KQ35880 | Human | 131601 | Details Get a Quote |
| TPRA1 Knockout HCT 116 Cell Line | EDJ-KQ35881 | Human | 131601 | Details Get a Quote |