TRANK1 Gene
Tetratricopeptide Repeat and Ankyrin Repeat Containing 1
Gene Information Card
| Symbol | TRANK1 |
|---|---|
| Full Name | Tetratricopeptide Repeat and Ankyrin Repeat Containing 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 3p22.2 |
| NCBI Gene ID | 9881 ncbi.nlm.nih.gov/gene/9881 |
| Ensembl ID | ENSG00000168066 |
| UniProt ID | O15050 |
| OMIM ID | 614633 |
| HGNC ID | 29018 |
| Aliases | KIAA0342, LBA1, LBP1, LBP-1, LBP1a, LBP1b |
Description
TRANK1 encodes a protein containing tetratricopeptide repeat (TPR) and ankyrin repeat domains, suggesting roles in protein-protein interactions and cellular signaling. The gene is widely expressed, with highest levels in brain and testis. Genetic variants in TRANK1 have been associated with bipolar disorder and schizophrenia in genome-wide association studies.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Bipolar disorder | Genetic association; risk variants in intronic regions | GWAS (PMID: 21926972, 31043756) |
| Schizophrenia | Genetic association; risk variants in intronic regions | GWAS (PMID: 25056061, 30804558) |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain (cerebral cortex) | 12.5 | Medium |
| Testis | 15.3 | Medium |
| Thyroid | 8.2 | Low |
| Lung | 6.1 | Low |
| Liver | 3.4 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 10.2 | Neuronal model |
| HEK293 (embryonic kidney) | 8.7 | Common cell line |
| HeLa (cervical carcinoma) | 6.5 | Epithelial model |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| rs9834970 | SNP (intronic) | 0.35 (G allele) | Risk allele for bipolar disorder and schizophrenia |
| rs17052300 | SNP (intronic) | 0.20 (A allele) | Risk allele for bipolar disorder |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in disease context.
Gain of Function (GOF)
Not established.
Dominant Negative (DN)
Not described.
View complete mutation data：
Gene Ontology (GO)
| • protein binding (GO:0005515) | • cytoplasm (GO:0005737) |
| • nucleus (GO:0005634) | • identical protein binding (GO:0042802) |
Protein Summary
The TRANK1 protein (UniProt O15050) contains N-terminal ankyrin repeats and C-terminal TPR motifs, indicative of scaffolding or chaperone functions. It localizes to both cytoplasm and nucleus. Its precise biochemical function remains under investigation, but it may modulate intracellular signaling pathways relevant to neuropsychiatric disorders.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TRANK1 Knockout HEK293 Cell Line | EDJ-KQ3309 | Human | 9881 | Details Get a Quote |
| TRANK1 Knockout A-549 Cell Line | EDJ-KQ24904 | Human | 9881 | Details Get a Quote |
| TRANK1 Knockout HeLa Cell Line | EDJ-KQ24905 | Human | 9881 | Details Get a Quote |
| TRANK1 Knockout HCT 116 Cell Line | EDJ-KQ72210 | Human | 9881 | Details Get a Quote |
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