Gene

vps50

ID

ZDB-GENE-060503-325

Name

VPS50 EARP/GARPII complex subunit

Symbol

vps50 Nomenclature History

Previous Names

ccdc132
si:ch211-128d6.1
si:ch211-287b5.1
si:ch211-77k19.1

Type

protein_coding_gene

Location

Chr: 19 Mapping Details/Browsers

Description

Predicted to be involved in endocytic recycling and retrograde transport, endosome to Golgi. Predicted to localize to EARP complex. Is expressed in head and heart. Orthologous to human VPS50 (VPS50 subunit of EARP/GARPII complex).

Genome Resources

Note

None

Comparative Information

Expression

All Expression Data

1 figure from Shi et al., 2019

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: 1 Figure from Shi et al., 2019
Cross-Species Comparison: Alliance

Phenotype Summary

Mutations

Mutants

Sequence Targeting Reagents

Human Disease

Associated With vps50 Human Ortholog

Disease Ontology Term	Multi-Species Data	OMIM Term	OMIM Phenotype ID
		Neurodevelopmental disorder with microcephaly, seizures, and neonatal cholestasis	619685

Associated With vps50 Via Experimental Models

No data available

Gene Ontology

Protein Domains

Domain, Family, and Site Summary

Type	InterPro ID	Name
Domain	IPR019514	Syndetin, C-terminal
Domain	IPR019515	Vacuolar protein sorting-associated protein 54, N-terminal
Family	IPR040047	Syndetin

Domain Details Per Protein

Protein	Length	Syndetin	Syndetin, C-terminal	Vacuolar protein sorting-associated protein 54, N-terminal
UniProtKB:A0A8M9PD69 InterPro	285
UniProtKB:F1R0A4 InterPro	965
UniProtKB:A0A8M6YUM6 InterPro	989
UniProtKB:A0A8M9Q2Y4 InterPro	551
UniProtKB:A0A8M6Z2H2 InterPro	990