TSPOAP1: Translocator Protein Associated Protein 1
A key regulator of mitochondrial cholesterol transport and steroidogenesis
Gene Information Card
| Symbol | TSPOAP1 |
|---|---|
| Full Name | Translocator Protein Associated Protein 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 1q42.12 |
| NCBI Gene ID | 220042 ncbi.nlm.nih.gov/gene/220042 |
| Ensembl ID | ENSG00000143178 |
| UniProt ID | Q9H3P2 |
| OMIM ID | 606093 |
| HGNC ID | 28960 |
| Aliases | PAP7, ACBD3, GOLPH1, GCP60 |
Description
TSPOAP1 encodes a protein that interacts with the translocator protein (TSPO) and is involved in mitochondrial cholesterol transport and steroid hormone synthesis. It also functions in Golgi apparatus dynamics and cellular signaling.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Neuropsychiatric disorders | Altered TSPOAP1 expression may affect neurosteroid synthesis and mitochondrial function | Association studies |
| Cancer | Overexpression in certain tumors may promote steroidogenesis and cell proliferation | Expression profiling |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Adrenal gland | 12.5 | High |
| Testis | 8.3 | Medium |
| Brain | 6.1 | Medium |
| Liver | 4.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.2 | High expression |
| HeLa | 9.8 | Medium expression |
| SH-SY5Y | 7.4 | Medium expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.123C>T | Missense | <0.01% | Unknown |
| c.456G>A | Synonymous | <0.01% | Likely benign |
Mutation functional classification
Loss of Function (LOF)
Not well characterized; may impair mitochondrial cholesterol transport
Gain of Function (GOF)
Not reported
Dominant Negative (DN)
Not reported
View complete mutation data：
Gene Ontology (GO)
| • mitochondrial outer membrane | • cholesterol binding |
| • protein homodimerization activity | • Golgi apparatus |
| • steroid biosynthetic process |
Pathways
• Steroidogenesis
• Mitochondrial cholesterol import
Protein Summary
TSPOAP1 is a 527-amino acid protein that localizes to mitochondria and Golgi. It contains an acyl-CoA binding domain and interacts with TSPO to facilitate cholesterol transport into mitochondria, a rate-limiting step in steroidogenesis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TSPOAP1 Knockout HEK293 Cell Line | EDJ-KQ6525 | Human | 9256 | Details Get a Quote |
| TSPOAP1 Knockout HeLa Cell Line | EDJ-KQ30681 | Human | 9256 | Details Get a Quote |
| TSPOAP1 Knockout A-549 Cell Line | EDJ-KQ63594 | Human | 9256 | Details Get a Quote |
| TSPOAP1 Knockout HCT 116 Cell Line | EDJ-KQ72059 | Human | 9256 | Details Get a Quote |
