TTPAL: Tocopherol (Alpha) Transfer Protein Like
A gene encoding a protein similar to alpha-tocopherol transfer protein, involved in vitamin E transport and potential lipid metabolism.
Gene Information Card
| Symbol | TTPAL |
|---|---|
| Full Name | Tocopherol (Alpha) Transfer Protein Like |
| Gene Type | Protein coding |
| Chromosomal Location | 20q13.12 |
| NCBI Gene ID | 79157 ncbi.nlm.nih.gov/gene/79157 |
| Ensembl ID | ENSG00000101204 |
| UniProt ID | Q9BXC1 |
| OMIM ID | 614969 |
| HGNC ID | 26006 |
| Aliases | FLJ12770, MGC138290 |
Description
TTPAL encodes a protein that shares sequence similarity with alpha-tocopherol transfer protein (TTPA). It is predicted to be involved in the intracellular transport of alpha-tocopherol (vitamin E) and may play a role in lipid metabolism. The gene is located on chromosome 20q13.12 and is expressed in various tissues.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Vitamin E deficiency | Potential disruption of alpha-tocopherol transport | Inferred from homology to TTPA (OMIM #614969) |
| Cancer (general) | Altered expression in certain tumors | COSMIC database (somatic mutations) |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 8.5 | Low |
| Kidney | 6.2 | Low |
| Testis | 4.1 | Low |
| Brain | 3.0 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 5.0 | Hepatocellular carcinoma cell line |
| HEK 293 | 3.5 | Embryonic kidney cells |
| K-562 | 2.0 | Leukemia cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | Missense | Rare | Unknown functional impact |
| c.100C>T | Nonsense | Rare | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutations may lead to truncated protein and loss of function.
Gain of Function (GOF)
No evidence for gain-of-function mutations.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • GO:0005319 (GO:0005319) | • GO:0015914 (GO:0015914) |
| • GO:0005737 (GO:0005737) |
Pathways
• Vitamin E metabolism (Reactome: R-HSA-975634)
Protein Summary
The TTPAL protein is a 317-amino acid polypeptide with a predicted molecular mass of ~35 kDa. It contains a conserved CRAL_TRIO domain characteristic of lipid-binding proteins. Its exact function is not fully characterized, but it is believed to facilitate the intracellular movement of alpha-tocopherol.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TTPAL Knockout HEK293 Cell Line | EDJ-KQ15982 | Human | 79183 | Details Get a Quote |
| TTPAL Knockout A-549 Cell Line | EDJ-KQ47028 | Human | 79183 | Details Get a Quote |
| TTPAL Knockout HCT 116 Cell Line | EDJ-KQ47029 | Human | 79183 | Details Get a Quote |
| TTPAL Knockout HeLa Cell Line | EDJ-KQ45809 | Human | 79183 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
