CERT1 Gene (Ceramide Transfer Protein 1)
A key regulator of ceramide trafficking and sphingolipid metabolism, implicated in cancer and neurodegenerative diseases.
Gene Information Card
| Symbol | CERT1 |
|---|---|
| Full Name | Ceramide Transfer Protein 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 5q13.3 |
| NCBI Gene ID | 22987 ncbi.nlm.nih.gov/gene/22987 |
| Ensembl ID | ENSG00000113522 |
| UniProt ID | Q9Y5P4 |
| OMIM ID | 608873 |
| HGNC ID | 2203 |
| Aliases | COL4A3BP, GPBP, STARD11 |
Description
CERT1 encodes the ceramide transfer protein (CERT), which mediates the non-vesicular transport of ceramide from the endoplasmic reticulum to the Golgi apparatus for sphingomyelin synthesis. The protein contains a pleckstrin homology (PH) domain, a FFAT motif, and a START domain. CERT1 is essential for sphingolipid homeostasis and has been implicated in cancer progression, neurodegeneration, and viral replication.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Altered CERT1 expression affects ceramide/sphingomyelin balance, influencing cell survival and proliferation. | PubMed, COSMIC |
| Alzheimer's disease | Dysregulation of sphingolipid metabolism via CERT1 may contribute to amyloid-beta pathology. | PubMed, NCBI |
| Hereditary sensory neuropathy type IE | Mutations in CERT1 have been linked to this rare neuropathy. | OMIM, ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Liver | 8.3 | Low |
| Kidney | 15.2 | Medium |
| Testis | 20.1 | High |
| Lung | 6.7 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 18.4 | Cervical cancer cell line |
| HEK293 | 14.2 | Embryonic kidney cells |
| SH-SY5Y | 22.1 | Neuroblastoma cell line |
| HepG2 | 9.8 | Hepatocellular carcinoma |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1003C>T (p.Arg335Trp) | Missense | <0.01% | Impaired ceramide transfer activity |
| c.1420G>A (p.Glu474Lys) | Missense | <0.01% | Altered Golgi targeting |
| c.1654_1656del (p.Lys552del) | In-frame deletion | <0.01% | Reduced START domain stability |
Mutation functional classification
Loss of Function (LOF)
Mutations in the START domain reduce ceramide binding and transfer, leading to disrupted sphingomyelin synthesis.
Gain of Function (GOF)
Not well documented; overexpression in some cancers may promote cell survival.
Dominant Negative (DN)
Some missense variants may interfere with wild-type CERT function in heterozygous state.
View complete mutation data：
Gene Ontology (GO)
| • ceramide transfer activity | • sphingomyelin biosynthetic process |
| • Golgi apparatus | • endoplasmic reticulum |
| • lipid binding |
Pathways
• Sphingolipid metabolism
• Ceramide de novo synthesis
• Sphingomyelin synthesis
Protein Summary
CERT is a 624-amino acid protein with a PH domain for Golgi targeting, a FFAT motif for ER interaction, and a START domain for ceramide binding. It shuttles ceramide from the ER to the Golgi, a rate-limiting step in sphingomyelin production. CERT activity is regulated by phosphorylation and protein-protein interactions.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CERT1 Knockout HEK293 Cell Line | EDJ-KQ3778 | Human | 10087 | Details Get a Quote |
| CERT1 Knockout HeLa Cell Line | EDC08305 | Human | 10087 | Details Get a Quote |
| CERT1 Knockout A-549 Cell Line | EDJ-KQ25875 | Human | 10087 | Details Get a Quote |
| CERT1 Knockout HCT 116 Cell Line | EDJ-KQ25876 | Human | 10087 | Details Get a Quote |
| CERT1（p.S132A） Overexpression HeLa（CERT1-/-） Stable Cell Line | EDC90089 | Human | 10087 | Details Get a Quote |
Displaying Records 1 To 5 Of 5 Records
