Gene

depdc5

ID

ZDB-GENE-091204-356

Name

DEP domain containing 5, GATOR1 subcomplex subunit

Symbol

depdc5 Nomenclature History

Previous Names

si:dkey-106l3.5

Type

protein_coding_gene

Location

Chr: 10 Mapping Details/Browsers

Description

Predicted to contribute to GTPase activator activity. Involved in regulation of neuronal action potential and swimming behavior. Predicted to localize to GATOR1 complex and lysosomal membrane. Used to study focal epilepsy. Human ortholog(s) of this gene implicated in focal epilepsy. Is expressed in central nervous system and notochord. Orthologous to human DEPDC5 (DEP domain containing 5, GATOR1 subcomplex subunit).

Genome Resources

Note

None

Comparative Information

Expression

All Expression Data

3 figures from 3 publications

Cross-Species Comparison

High Throughput Data

GEO (1)

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: 11 figures from 4 publications
Cross-Species Comparison: Alliance

Phenotype Summary

Mutations

Mutants

Sequence Targeting Reagents

Human Disease

Associated With depdc5 Human Ortholog

Disease Ontology Term	Multi-Species Data	OMIM Term	OMIM Phenotype ID
familial focal epilepsy with variable foci 1	Alliance	Epilepsy, familial focal, with variable foci 1	604364
		Developmental and epileptic encephalopathy 111	620504

Associated With depdc5 Via Experimental Models

Human Disease	Fish	Conditions	Citations
epilepsy	WT + MO2-depdc5	control	de Calbiac et al., 2021
epilepsy	WT + MO1-depdc5	control	de Calbiac et al., 2021
focal epilepsy	depdc5^{udm102/udm102} (TL)	standard conditions	Swaminathan et al., 2018
focal epilepsy	WT + MO2-depdc5	standard conditions	de Calbiac et al., 2018
focal epilepsy	WT + MO1-depdc5	standard conditions	de Calbiac et al., 2018

Gene Ontology

Protein Domains

Domain, Family, and Site Summary

Type	InterPro ID	Name
Domain	IPR000591	DEP domain
Domain	IPR045838	DEPDC5, C-terminal
Domain	IPR048255	Vacuolar membrane-associated protein Iml1, N-terminal domain
Family	IPR027244	Vacuolar membrane-associated protein Iml1
Homologous_superfamily	IPR036388	Winged helix-like DNA-binding domain superfamily
Homologous_superfamily	IPR036390	Winged helix DNA-binding domain superfamily

Domain Details Per Protein

Protein	Length	DEPDC5, C-terminal	DEP domain	Vacuolar membrane-associated protein Iml1	Vacuolar membrane-associated protein Iml1, N-terminal domain	Winged helix DNA-binding domain superfamily	Winged helix-like DNA-binding domain superfamily
UniProtKB:A0A8M9QGW7 InterPro	1605
UniProtKB:A0A8M9PTY0 InterPro	1594
UniProtKB:A0A8M9QCD7 InterPro	1593
UniProtKB:E7EXM8 InterPro	1603
UniProtKB:A0A8M9QKY4 InterPro	1614
UniProtKB:A0A8M9QKY7 InterPro	1123

Transcripts

Genome Browsers

NCBI

Ensembl

ZFIN

Type	Name	Annotation Method	Length (nt)	Analysis
mRNA	depdc5-201 (1) Ensembl	Ensembl	4,812 nt	Select Tool ZFIN BLAST
mRNA	depdc5-202 (1) Ensembl	Ensembl	796 nt	Select Tool
mRNA	depdc5-204 (1) Ensembl	Ensembl	5,203 nt	Select Tool
mRNA	depdc5-205 (1) Ensembl	Ensembl	446 nt	Select Tool
ncRNA	depdc5-002 (1) Ensembl	Ensembl	515 nt	Select Tool
ncRNA	depdc5-004 (1) Ensembl	Ensembl	581 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