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 ZFIN BLAST
ncRNA	si:ch211-233a24.2-002 (1) Ensembl	Ensembl	522 nt	Select Tool ZFIN BLAST
ncRNA	si:ch211-233a24.2-003 (1) Ensembl	Ensembl	739 nt	Select Tool ZFIN BLAST

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