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 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

Expression

All Expression Data

No data available

Cross-Species Comparison

High Throughput Data

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Daniocell

Thisse Expression Data

No data available

Wild Type Expression Summary

Phenotype

All Phenotype Data: 2 figures from 2 publications
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

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

Gene Ontology

Protein Domains

Domain, Family, and Site Summary

Type	InterPro ID	Name
Domain	IPR018863	Bridge-like lipid transfer protein family member 1, C-terminal
Domain	IPR047104	Bridge-like lipid transfer protein family member 1, N-terminal
Domain	IPR048873	BLTP1, RBG module
Family	IPR033616	Bridge-like lipid transfer protein family member 1

Domain Details Per Protein

Protein	Length	BLTP1, RBG module	Bridge-like lipid transfer protein family member 1	Bridge-like lipid transfer protein family member 1, C-terminal	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

Transcripts

Genome Browsers

Type	Name	Annotation Method	Length (nt)	Analysis
mRNA	bltp1-204 (1) Ensembl	Ensembl	14,772 nt	Select Tool ZFIN BLAST
mRNA	si:ch211-233a24.2-201 (1) Ensembl	Ensembl	15,591 nt	Select Tool
ncRNA	si:ch211-233a24.2-002 (1) Ensembl	Ensembl	522 nt	Select Tool
ncRNA	si:ch211-233a24.2-003 (1) Ensembl	Ensembl	739 nt	Select Tool

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