Gene
cert1a
- ID
- ZDB-GENE-080724-10
- Name
- ceramide transporter 1a
- Symbol
- cert1a Nomenclature History
- Previous Names
-
- col4a3bp
- col4a3bpa
- gpbpΔ26
- gpbp (1)
- Type
- protein_coding_gene
- Location
- Chr: 5 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. Is expressed in immature eye. Orthologous to human CERT1 (ceramide transporter 1).
- Genome Resources
- Note
- None
- Comparative Information
- All Expression Data
- 1 figure from Granero-Moltó et al., 2008
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 5 figures from Granero-Moltó et al., 2008
- 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
Type | InterPro ID | Name |
---|---|---|
Domain | IPR001849 | Pleckstrin homology domain |
Domain | IPR002913 | START domain |
Domain | IPR041952 | STARD11, START domain |
Family | IPR051213 | START domain-containing lipid transfer |
Homologous_superfamily | IPR011993 | PH-like domain superfamily |
Homologous_superfamily | IPR023393 | START-like domain superfamily |
Domain Details Per Protein
Protein | Length | PH-like domain superfamily | Pleckstrin homology domain | STARD11, START domain | START domain | START domain-containing lipid transfer | START-like domain superfamily |
---|---|---|---|---|---|---|---|
UniProtKB:F8W2V5
|
620 | ||||||
UniProtKB:Q5M7Y0
|
620 | ||||||
UniProtKB:A0A2R9YJF5
|
594 |
Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
---|---|---|---|---|---|
mRNA |
cert1a-206
(1)
|
Ensembl | 5,357 nt | ||
mRNA |
cert1a-207
(1)
|
Ensembl | 6,630 nt | ||
mRNA |
col4a3bpa-201
(1)
|
Ensembl | 1,785 nt | ||
mRNA |
col4a3bpa-202
(1)
|
Ensembl | 912 nt | ||
mRNA |
col4a3bpa-204
(1)
|
Ensembl | 3,405 nt | ||
mRNA |
col4a3bpa-205
(1)
|
Ensembl | 1,235 nt | ||
ncRNA |
col4a3bpa-005
(1)
|
Ensembl | 390 nt |
Interactions and Pathways
No data available
Name | Type | Antigen Genes | Isotype | Host Organism | Assay | Source | Citations |
---|---|---|---|---|---|---|---|
AB1-col4a3bp | monoclonal |
|
1 |
Plasmids
No data available