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 enable ceramide 1-phosphate binding activity and ceramide 1-phosphate transfer activity. Predicted to be involved in ER to Golgi ceramide transport and intermembrane lipid transfer. Predicted to act upstream of or within lipid transport and muscle organ development. Predicted to be located in Golgi apparatus. Predicted to be active in cytosol. Is expressed in immature eye. 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
- 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 | Neurodevelopmental disorder with hypotonia, speech delay, and dysmorphic facies | 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