Gene

tor1

ID

ZDB-GENE-080917-50

Name

torsin family 1

Symbol

tor1 Nomenclature History

Previous Names

im:7165310 (1)
si:ch73-178d14.1

Type

protein_coding_gene

Location

Chr: 21 Mapping Details/Browsers

Description

Predicted to enable kinesin binding activity. Predicted to be involved in nuclear membrane organization and protein localization to nucleus. Predicted to act upstream of or within endoplasmic reticulum organization. Located in cytosol and nuclear envelope. Is expressed in gonad; gut; muscle; and nervous system. Human ortholog(s) of this gene implicated in arthrogryposis multiplex congenita-5 and torsion dystonia 1. Orthologous to several human genes including TOR1B (torsin family 1 member B).

Genome Resources

Note

None

Comparative Information

Expression

All Expression Data

3 figures from 2 publications

Cross-Species Comparison

High Throughput Data

GEO (1)

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Daniocell

Thisse Expression Data

IMAGE:7165310 (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 tor1 Human Ortholog

No data available

Associated With tor1 Via Experimental Models

No data available

Gene Ontology

Protein Domains

Domain, Family, and Site Summary

Type	InterPro ID	Name
Domain	IPR049337	Torsin-1A, C-terminal domain
Family	IPR001270	ClpA/B family
Family	IPR010448	Torsin
Family	IPR017378	Torsin 1/2
Homologous_superfamily	IPR027417	P-loop containing nucleoside triphosphate hydrolase