TECPR1
Tectonin Beta-Propeller Repeat Containing 1
Gene Information Card
| Symbol | TECPR1 |
|---|---|
| Full Name | Tectonin Beta-Propeller Repeat Containing 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 7q21.3 |
| NCBI Gene ID | 25851 ncbi.nlm.nih.gov/gene/25851 |
| Ensembl ID | ENSG00000106031 |
| UniProt ID | Q7Z6L1 |
| OMIM ID | 617739 |
| HGNC ID | 29287 |
| Aliases | KIAA1398, SPG91 |
Description
TECPR1 encodes a protein containing tectonin beta-propeller repeats, involved in autophagy and lysosomal function. Mutations in this gene are associated with hereditary spastic paraplegia type 91 (SPG91), a neurodegenerative disorder characterized by progressive spasticity and weakness of the lower limbs.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hereditary Spastic Paraplegia 91 | Loss-of-function mutations impair autophagy-lysosome pathway, leading to axonal degeneration | PMID: 30929738 |
| Autosomal Recessive Spastic Paraplegia | Biallelic TECPR1 variants disrupt protein function | ClinVar: RCV000626033 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 8.2 | Medium |
| Testis | 6.5 | Medium |
| Lung | 4.1 | Low |
| Liver | 3.0 | Low |
| Kidney | 2.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y | 9.1 | Neuronal cell line |
| HeLa | 7.3 | Cervical carcinoma |
| HEK293 | 6.8 | Embryonic kidney |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1525C>T (p.Arg509*) | Nonsense | Rare | Premature truncation, loss of function |
| c.1042G>A (p.Gly348Arg) | Missense | Rare | Likely damaging, reduced protein stability |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift variants lead to truncated protein and impaired autophagy.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • autophagy | • lysosome organization |
| • protein binding | • cytoplasm |
Pathways
• Autophagy - animal
• Lysosome
Protein Summary
TECPR1 is a 1070-amino acid protein with multiple beta-propeller domains, localized to the cytoplasm and autophagic membranes. It interacts with ATG5-ATG12 and WIPI2 to promote autophagosome-lysosome fusion. Loss of function leads to accumulation of autophagic substrates and neuronal degeneration.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TECPR1 Knockout HEK293 Cell Line | EDJ-KQ7573 | Human | 25851 | Details Get a Quote |
| TECPR1 Knockout A-549 Cell Line | EDJ-KQ34203 | Human | 25851 | Details Get a Quote |
| TECPR1 Knockout HCT 116 Cell Line | EDJ-KQ34204 | Human | 25851 | Details Get a Quote |
| TECPR1 Knockout HeLa Cell Line | EDJ-KQ34205 | Human | 25851 | Details Get a Quote |
