Gene

vps53

ID

ZDB-GENE-041114-199

Name

VPS53 subunit of GARP complex

Symbol

vps53 Nomenclature History

Previous Names

wu:fb77d11
zgc:103741 (1)

Type

protein_coding_gene

Location

Chr: 15 Mapping Details/Browsers

Description

Predicted to be involved in retrograde transport, endosome to Golgi. Predicted to localize to GARP complex. Human ortholog(s) of this gene implicated in pontocerebellar hypoplasia type 2E. Orthologous to human VPS53 (VPS53 subunit of GARP complex).

Genome Resources

Note

None

Comparative Information

Expression

All Expression Data

1 figure from Thisse et al., 2004

Cross-Species Comparison

High Throughput Data

GEO (1)

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Thisse Expression Data

MGC:103741 (1 image)

Wild Type Expression Summary

Phenotype

All Phenotype Data: No data available
Cross-Species Comparison: Alliance

Phenotype Summary

Mutations

Mutants

Sequence Targeting Reagents

Human Disease

Associated With vps53 Human Ortholog

Disease Ontology Term	Multi-Species Data	OMIM Term	OMIM Phenotype ID
pontocerebellar hypoplasia type 2E	Alliance	Pontocerebellar hypoplasia, type 2E	615851

Associated With vps53 Via Experimental Models

No data available

Gene Ontology

Protein Domains

Domain, Family, and Site Summary

Type	InterPro ID	Name
Domain	IPR007234	Vps53, N-terminal
Domain	IPR031745	Vps53, C-terminal
Family	IPR039766	Vacuolar protein sorting-associated protein 53
Homologous_superfamily	IPR038260	Vps53, C-terminal domain superfamily