SESTD1
SEC14 and spectrin domain-containing protein 1
Gene Information Card
| Symbol | SESTD1 |
|---|---|
| Full Name | SEC14 and spectrin domain-containing 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 2q31.2 |
| NCBI Gene ID | 91452 ncbi.nlm.nih.gov/gene/91452 |
| Ensembl ID | ENSG00000162998 |
| UniProt ID | Q5VUJ9 |
| OMIM ID | 614252 |
| HGNC ID | 25695 |
| Aliases | FLJ20607, MGC131851, dJ1181N3.1 |
Description
SESTD1 encodes a protein containing a SEC14 domain and a spectrin repeat domain. It functions as a calcium-independent phospholipid-binding protein and is involved in the regulation of calcium signaling and cell migration. The protein localizes to the plasma membrane and interacts with the TRPC4 and TRPC5 ion channels, modulating their activity.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease association reported in ClinVar or OMIM | Not established | No evidence |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 10.2 | Medium |
| Heart | 5.8 | Low |
| Liver | 3.1 | Low |
| Kidney | 7.4 | Medium |
| Lung | 4.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 12.3 | Moderate expression |
| HeLa | 8.9 | Moderate expression |
| K562 | 6.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412Trp) | Missense | 0.001% (gnomAD) | Unknown functional effect |
| c.567delA (p.Lys189fs) | Frameshift | 0.0005% (gnomAD) | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations (e.g., p.Lys189fs) are predicted to cause loss of function due to premature truncation.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
Pathways
• ['Phospholipid binding and calcium signaling'
• 'Reactome: R-HSA-1483249']
Protein Summary
The SESTD1 protein (UniProt Q5VUJ9) is 1,244 amino acids long and contains an N-terminal SEC14 domain and a C-terminal spectrin repeat domain. It binds phosphatidylinositol phosphates and interacts with TRPC4/5 channels, regulating calcium entry. The protein is expressed in multiple tissues, with highest levels in brain and kidney.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SESTD1 Knockout HEK293 Cell Line | EDJ-KQ10730 | Human | 91404 | Details Get a Quote |
| SESTD1 Knockout A-549 Cell Line | EDJ-KQ38300 | Human | 91404 | Details Get a Quote |
| SESTD1 Knockout HCT 116 Cell Line | EDJ-KQ38301 | Human | 91404 | Details Get a Quote |
| SESTD1 Knockout HeLa Cell Line | EDJ-KQ38302 | Human | 91404 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
