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 be involved in endocytic recycling; phagocytosis; and synaptic vesicle endocytosis. Predicted to localize to integral component of membrane. Used to study Alkuraya-Kucinskas syndrome. Human ortholog(s) of this gene implicated in Alkuraya-Kucinskas syndrome. Orthologous to human KIAA1109 (KIAA1109).
- 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
- 1 Figure from Gueneau et al., 2017
- Cross-Species Comparison
- Alliance
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 | Length | Fragile site-associated protein, C-terminal | Protein KIAA1109 |
|---|---|---|---|
|
UniProtKB:A0A2R8QSU2
|
760 | ||
|
UniProtKB:A0A0R4IES7
|
4923 | ||
|
UniProtKB:F1R6K6
|
1902 | ||
|
UniProtKB:A0A2R8QCR9
|
650 | ||
|
UniProtKB:A0A2R8QTC5
|
689 | ||
|
UniProtKB:B8JIA1
|
4922 |
| Type | Name | Length (nt) | Analysis |
|---|---|---|---|
| mRNA |
si:ch211-233a24.2-201
(1)
|
15591 nt | |
| ncRNA |
si:ch211-233a24.2-002
(1)
|
522 nt | |
| ncRNA |
si:ch211-233a24.2-003
(1)
|
739 nt |
Interactions and Pathways
No data available
Plasmids
No data available