Gene
kiaa1109
- ID
- ZDB-GENE-090313-98
- Name
- KIAA1109
- Symbol
- kiaa1109 Nomenclature History
- Previous Names
-
- si:ch211-233a24.2
- Type
- protein_coding_gene
- Location
- Chr: 13 Mapping Details/Browsers
- Description
- Predicted to enable phosphatidylethanolamine transfer activity. Predicted to be involved in endocytic recycling; endocytosis; and intermembrane lipid transfer. Predicted to be located in endoplasmic reticulum-plasma membrane contact site. Used to study Alkuraya-Kucinskas syndrome. Human ortholog(s) of this gene implicated in Alkuraya-Kucinskas syndrome. Orthologous to human BLTP1 (bridge-like lipid transfer protein family member 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
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| Alkuraya-Kucinskas syndrome | Alliance | Alkuraya-Kucinskas syndrome | 617822 |
| Human Disease | Fish | Conditions | Citations |
|---|---|---|---|
| Alkuraya-Kucinskas syndrome | TU + MO2-kiaa1109 | standard conditions | Gueneau et al., 2017 |
| Alkuraya-Kucinskas syndrome | TU + MO1-kiaa1109 | standard conditions | Gueneau et al., 2017 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Additional Resources | Length | Bridge-like lipid transfer protein family member 1 | Bridge-like lipid transfer protein family member 1, N-terminal |
|---|---|---|---|---|
| UniProtKB:A0A8M9QNG3 | InterPro | 3830 | ||
| UniProtKB:A0A8M9QNF9 | InterPro | 3903 | ||
| UniProtKB:A0A8M9QJQ8 | InterPro | 3890 | ||
| UniProtKB:B8JIA1 | InterPro | 4922 | ||
| UniProtKB:A0A8M3B529 | InterPro | 4919 | ||
| UniProtKB:A0A8M9Q9T4 | InterPro | 3861 | ||
| UniProtKB:A0A8M9PXZ1 | InterPro | 3886 | ||
| UniProtKB:A0A8M9QFG8 | InterPro | 3848 | ||
| UniProtKB:A0AB32T1G3 | InterPro | 5005 | ||
| UniProtKB:A0AB32T1R1 | InterPro | 5005 | ||
| UniProtKB:A0AB32T3A0 | InterPro | 4974 | ||
| UniProtKB:A0AB32T6S7 | InterPro | 4992 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
bltp1-204
(1)
|
Ensembl | 14,772 nt | ||
| mRNA |
si:ch211-233a24.2-201
(1)
|
Ensembl | 15,591 nt | ||
| ncRNA |
si:ch211-233a24.2-002
(1)
|
Ensembl | 522 nt | ||
| ncRNA |
si:ch211-233a24.2-003
(1)
|
Ensembl | 739 nt |
Interactions and Pathways
No data available
Plasmids
No data available