tor1 torsin family 1 [Danio rerio (zebrafish)] - Gene

Summary

Official Symbol: tor1provided by ZNC
Official Full Name: torsin family 1provided by ZNC
Primary source: ZFIN:ZDB-GENE-080917-50
See related: Ensembl:ENSDARG00000077950 AllianceGenome:ZFIN:ZDB-GENE-080917-50
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Danio rerio
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Actinopterygii; Neopterygii; Teleostei; Ostariophysi; Cypriniformes; Danionidae; Danioninae; Danio
Also known as: im:7165310; si:ch73-178d14.1
Summary: Predicted to enable kinesin binding activity. Predicted to be involved in nuclear membrane organization and protein localization to nucleus. 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). [provided by Alliance of Genome Resources, Dec 2024]
Orthologs: all
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Genomic context

Location:: chromosome: 21

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCz11 (GCF_000002035.6)	21	NC_007132.7 (3775531..3787325)
105	previous assembly	GRCz10 (GCF_000002035.5)	21	NC_007132.6 (3624110..3635904)

Chromosome 21 - NC_007132.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages
Description: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages
BioProject: PRJEB1986
Analysis date: Fri Dec 8 19:48:10 2017

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

The zebrafish homologue of the human DYT1 dystonia gene is widely expressed in CNS neurons but non-essential for early motor system development.
Title: The zebrafish homologue of the human DYT1 dystonia gene is widely expressed in CNS neurons but non-essential for early motor system development.

Submit: New GeneRIF Correction

General gene information

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Gene Ontology Provided by ZFIN

Function	Evidence Code	Pubs
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables ATP hydrolysis activity	IEA Inferred from Electronic Annotation more info
enables hydrolase activity	IEA Inferred from Electronic Annotation more info
enables kinesin binding	IBA Inferred from Biological aspect of Ancestor more info
enables nucleotide binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within chaperone cofactor-dependent protein refolding	IEA Inferred from Electronic Annotation more info
involved_in chaperone cofactor-dependent protein refolding	IEA Inferred from Electronic Annotation more info
involved_in nuclear membrane organization	IBA Inferred from Biological aspect of Ancestor more info
involved_in protein localization to nucleus	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in cell projection	IEA Inferred from Electronic Annotation more info
located_in cytoplasmic vesicle membrane	IEA Inferred from Electronic Annotation more info
located_in cytosol	IDA Inferred from Direct Assay more info	PubMed
located_in endoplasmic reticulum	IEA Inferred from Electronic Annotation more info
is_active_in endoplasmic reticulum lumen	IBA Inferred from Biological aspect of Ancestor more info
located_in growth cone	IEA Inferred from Electronic Annotation more info
located_in membrane	IEA Inferred from Electronic Annotation more info
is_active_in nuclear envelope	IBA Inferred from Biological aspect of Ancestor more info
located_in nuclear envelope	IDA Inferred from Direct Assay more info	PubMed
located_in nucleus	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: torsin family 1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001200015.1 → NP_001186944.1 torsin family 1 precursor

Status: VALIDATED

Source sequence(s)

CU694530, DY572024, EH570953, EH571944

UniProtKB/TrEMBL

A0A8M1NXL2, E9QG29

Related

ENSDARP00000103594.3, ENSDART00000111699.5

Conserved Domains (1) summary

cl21455
Location:50 → 175

P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

RefSeqs of Annotated Genomes: GCF_000002035.6-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCz11 Primary Assembly

Genomic

NC_007132.7 Reference GRCz11 Primary Assembly

Range

3775531..3787325

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_005161523.2 → XP_005161580.1 torsin family 1 isoform X1

UniProtKB/TrEMBL

A0A8M2B8C5, E9QHA7

Related

ENSDARP00000122316.1, ENSDART00000139813.2

Conserved Domains (1) summary

cl21455
Location:50 → 175

P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases