Tor1b torsin family 1, member B [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Tor1bprovided by MGI
Official Full Name: torsin family 1, member Bprovided by MGI
Primary source: MGI:MGI:1353605
See related: Ensembl:ENSMUSG00000026848 AllianceGenome:MGI:1353605
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: DQ1; torsinB; 2610016F05Rik
Summary: Enables identical protein binding activity. Acts upstream of or within nuclear membrane organization. Located in endoplasmic reticulum lumen and nuclear envelope. Is expressed in several structures, including central nervous system; heart; liver; spleen; and tongue. Orthologous to human TOR1B (torsin family 1 member B). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in adrenal adult (RPKM 17.0), bladder adult (RPKM 14.3) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 2 B; 2 21.76 cM

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	2	NC_000068.8 (30842951..30854085)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	2	NC_000068.7 (30952939..30964073)

Chromosome 2 - NC_000068.8 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: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

TorsinB overexpression prevents abnormal twisting in DYT1 dystonia mouse models.
Title: TorsinB overexpression prevents abnormal twisting in DYT1 dystonia mouse models.
torsinB expression was highest during late postnatal periods (from P14 onwards) and in the adult.
Title: Developmental patterns of torsinA and torsinB expression.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Targeted (2) 1 citation
Endonuclease-mediated (3)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Tor1b (e-PCR), detects polymorphism
- UniSTS:498778

NoName (e-PCR)
- UniSTS:234361

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables ATP hydrolysis activity	ISO Inferred from Sequence Orthology more info
enables hydrolase activity	IEA Inferred from Electronic Annotation more info
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables identical protein binding	ISO Inferred from Sequence Orthology more info	PubMed
enables kinesin binding	IBA Inferred from Biological aspect of Ancestor more info
enables nucleotide binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in chaperone cofactor-dependent protein refolding	IEA Inferred from Electronic Annotation more info
involved_in endoplasmic reticulum organization	ISO Inferred from Sequence Orthology more info
involved_in nuclear membrane organization	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within nuclear membrane organization	IGI Inferred from Genetic Interaction more info	PubMed
involved_in protein localization to nucleus	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in endoplasmic reticulum	ISO Inferred from Sequence Orthology more info
is_active_in endoplasmic reticulum lumen	IBA Inferred from Biological aspect of Ancestor more info
located_in endoplasmic reticulum lumen	IDA Inferred from Direct Assay more info	PubMed
located_in endoplasmic reticulum lumen	ISO Inferred from Sequence Orthology more info	PubMed
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 nuclear envelope	ISO Inferred from Sequence Orthology more info
located_in nucleus	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: torsin-1B

Names: torsin ATPase-1B

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_133673.3 → NP_598434.2 torsin-1B precursor

See identical proteins and their annotated locations for NP_598434.2

Status: VALIDATED

Source sequence(s)

AK017290, AK028859, AK159843, AV283130

Consensus CDS

CCDS15890.1

UniProtKB/Swiss-Prot

Q8VEI4, Q9ER41

Related

ENSMUSP00000028199.6, ENSMUST00000028199.12

Conserved Domains (2) summary

smart00382
Location:101 → 244

AAA; ATPases associated with a variety of cellular activities

cl21455
Location:51 → 176

P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

NC_000068.8 Reference GRCm39 C57BL/6J

Range

30842951..30854085

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_017318972.3 → XP_017174461.1 torsin-1B isoform X1

Conserved Domains (2) summary

pfam06309
Location:51 → 176

Torsin

TIGR03345
Location:172 → 227

VI_ClpV1; type VI secretion ATPase, ClpV1 family