Gene
cert1b
- ID
- ZDB-GENE-110125-5
- Name
- ceramide transporter 1b
- Symbol
- cert1b Nomenclature History
- Previous Names
-
- col4a3bpb
- Type
- protein_coding_gene
- Location
- Chr: 21 Mapping Details/Browsers
- Description
- Predicted to have ceramide 1-phosphate binding activity; ceramide 1-phosphate transfer activity; and phosphatidylinositol-4-phosphate binding activity. Predicted to be involved in ER to Golgi ceramide transport and intermembrane lipid transfer. Predicted to localize to Golgi apparatus; cytosol; and membrane. Human ortholog(s) of this gene implicated in autosomal dominant non-syndromic intellectual disability 34. Orthologous to human CERT1 (ceramide transporter 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- No data available
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- No data available
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| autosomal dominant intellectual developmental disorder 34 | Alliance | Intellectual developmental disorder, autosomal dominant 34 | 616351 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | STARD11, START domain | START domain | START-like domain superfamily |
|---|---|---|---|---|
|
UniProtKB:A0A8M9PQR9
|
512 | |||
|
UniProtKB:A0A8M9P3I3
|
485 |
| Type | Name | Annotation Method | Length (nt) | Analysis |
|---|---|---|---|---|
| mRNA |
col4a3bpb-202
(1)
|
Havana | 1500 nt |
Interactions and Pathways
No data available
Plasmids
No data available