Gene

shq1

ID

ZDB-GENE-070112-1412

Name

SHQ1, H/ACA ribonucleoprotein assembly factor

Symbol

shq1 Nomenclature History

Previous Names

zgc:158255

Type

protein_coding_gene

Location

Chr: 6 Mapping Details/Browsers

Description

Predicted to enable unfolded protein binding activity. Predicted to be involved in box H/ACA snoRNP assembly. Predicted to be located in cytosol and nucleus. Predicted to be active in cytoplasm and nucleoplasm. Human ortholog(s) of this gene implicated in dystonia. Orthologous to human SHQ1 (SHQ1, H/ACA ribonucleoprotein assembly factor).

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: No data available
Cross-Species Comparison: Alliance

Phenotype Summary

Mutations

Mutants

Sequence Targeting Reagents

Human Disease

Associated With shq1 Human Ortholog

Disease Ontology Term	Multi-Species Data	OMIM Term	OMIM Phenotype ID
dystonia 35, childhood-onset	Alliance	?Dystonia 35, childhood-onset	619921
		Neurodevelopmental disorder with dystonia and seizures	619922

Associated With shq1 Via Experimental Models

No data available

Gene Ontology

Protein Domains

Domain, Family, and Site Summary

Type	InterPro ID	Name
Domain	IPR007009	Shq1, C-terminal domain
Domain	IPR007052	CS domain
Domain	IPR048696	SHQ1-like, CS domain
Family	IPR039742	Protein Shq1
Homologous_superfamily	IPR008978	HSP20-like chaperone