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 enable lipid binding activity. Predicted to be involved in ER to Golgi ceramide transport. Predicted to act upstream of or within lipid transport. Human ortholog(s) of this gene implicated in autosomal dominant intellectual developmental disorder 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 | Neurodevelopmental disorder with hypotonia, speech delay, and dysmorphic facies | 616351 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | STARD11, START domain | START domain | START domain-containing lipid transfer | START-like domain superfamily |
|---|---|---|---|---|---|
|
UniProtKB:A0A8M9PQR9
|
512 | ||||
|
UniProtKB:A0A8M9P3I3
|
485 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
cert1b-201
(1)
|
Ensembl | 1,458 nt | ||
| mRNA |
col4a3bpb-202
(1)
|
Ensembl | 1,500 nt |
Interactions and Pathways
No data available
Plasmids
No data available