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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 be located in membrane. Predicted to be 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
Expression
All Expression Data
No data available
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
No data available
Wild Type Expression Summary
Phenotype
All Phenotype Data
1 Figure from Gueneau et al., 2017
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With kiaa1109 Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
Alkuraya-Kucinskas syndrome Alliance Alkuraya-Kucinskas syndrome 617822
Associated With kiaa1109 Via Experimental Models
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Domain IPR018863 Fragile site-associated protein, C-terminal
Family IPR033616 Protein KIAA1109
Domain Details Per Protein
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Citations