Tor1b MGI Mouse Gene Detail - MGI:1353605 - torsin family 1, member B

Symbol

Tor1b
Name

torsin family 1, member B
Synonyms

2610016F05Rik, DQ1, torsinB

Feature Type

protein coding gene
IDs

MGI:1353605
NCBI Gene: 30934
Alliance

gene page
Transcription Start Sites

1 TSS

Sequence Map

Chr2:30842971-30849027 bp, + strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 2, 21.76 cM, cytoband B
Mapping Data

3 experiments

SNPs within 2kb

287 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1353605	protein coding gene	Chr2:30842951-30854085 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0025577	protein coding gene	Chr2:29249367-29255423 (+)
A/J	MGP_AJ_G0025555	protein coding gene	Chr2:28058264-28064320 (+)
AKR/J	MGP_AKRJ_G0025524	protein coding gene	Chr2:29014994-29021050 (+)
BALB/cJ	MGP_BALBcJ_G0025551	protein coding gene	Chr2:28192083-28198139 (+)
C3H/HeJ	MGP_C3HHeJ_G0025312	protein coding gene	Chr2:28946811-28952867 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0025996	protein coding gene	Chr2:30194885-30200941 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0023404	protein coding gene	Chr2:26824484-26830566 (+)
CAST/EiJ	MGP_CASTEiJ_G0024775	protein coding gene	Chr2:28880618-28886594 (+)
CBA/J	MGP_CBAJ_G0025289	protein coding gene	Chr2:31268510-31274566 (+)
DBA/2J	MGP_DBA2J_G0025422	protein coding gene	Chr2:27837029-27843085 (+)
FVB/NJ	MGP_FVBNJ_G0025385	protein coding gene	Chr2:27678515-27684571 (+)
LP/J	MGP_LPJ_G0025508	protein coding gene	Chr2:29156760-29162816 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0025415	protein coding gene	Chr2:31054395-31060451 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0026054	protein coding gene	Chr2:28928565-28934620 (+)
PWK/PhJ	MGP_PWKPhJ_G0024521	protein coding gene	Chr2:27711315-27717370 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0024322	protein coding gene	Chr2:29073833-29079855 (+)
WSB/EiJ	MGP_WSBEiJ_G0024842	protein coding gene	Chr2:29103005-29109061 (+)

Human Ortholog

TOR1B, torsin family 1 member B

Vertebrate Orthologs

6

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

TOR1B, torsin family 1 member B
Synonyms

DQ1
Links

HGNC:11995

NCBI Gene ID: 27348

neXtProt AC: NX_O14657

UniProt: O14657
Chr Location

9q34.11; chr9:129803157-129811281 (+) GRCh38

MGI Vertebrate Homology

Tor1b stringent orthology
1 human;1 mouse;1 rat;4 zebrafish
HCOP

vertebrate homology predictions: TOR1B
Protein SuperFamily

Torsin_2A
Gene Tree

Tor1b

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Phenotype Summary

2 phenotypes from 2 alleles in 2 genetic backgrounds
6 phenotypes from multigenic genotypes
7 phenotype references

Phenotype Overview

Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene.

adipose tissue	behavior/neurological	cardiovascular system	cellular	craniofacial	digestive/alimentary system	embryo	endocrine/exocrine glands	growth/size/body	hearing/vestibular/ear	hematopoietic system	homeostasis/metabolism	integument	immune system	limbs/digits/tail	liver/biliary system	mortality/aging	muscle	nervous system	pigmentation	renal/urinary system	reproductive system	respiratory system	skeleton	taste/olfaction	neoplasm	vision/eye

Click cells to view annotations.

All Mutations and Alleles

8
Endonuclease-mediated

3
Gene trapped

1
Targeted

4
Incidental Mutations

Mutagenetix , APF
Find Mice (IMSR)

20 strains or lines available

Mice homozygous for a null allele do not show any obvious abnormalities.

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All GO Annotations

23
GO References

9

Molecular Function

carbohydrate derivative binding	cytoskeletal protein binding	DNA binding	enzyme regulator	hydrolase	ligase	lipid binding	oxidoreductase	RNA binding	signaling receptor activity	signaling receptor binding	transcription	transferase	transporter

Biological Process

carbohydrate derivative metabolism	cell differentiation	cell population proliferation	cellular component organization	DNA-templated transcription	establishment of localization	homeostatic process	immune system process	lipid metabolic process	programmed cell death	protein metabolic process	response to stimulus	signaling	system development

Cellular Component

cell projection	cytoplasmic vesicle	cytoskeleton	cytosol	endoplasmic reticulum	endosome	extracellular region	Golgi apparatus	mitochondrion	membraneless organelle	nucleus	organelle envelope	organelle lumen	plasma membrane	protein-containing complex	synapse	vacuole

Click cells to view annotations.

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Expression Overview

GXD's primary emphasis is on endogenous gene expression during development. Click on grid cells to view annotations.

Blue cells = expressed in wild-type.
Gray triangles = other expression annotations only
(e.g. absence of expression or data from mutants).

early conceptus	embryo ectoderm	embryo endoderm	embryo mesoderm	embryo mesenchyme	extraembryonic component	alimentary system	auditory system	branchial arches	cardiovascular system	connective tissue	endocrine system	exocrine system	hemolymphoid system	integumental system	limbs	liver and biliary system	musculoskeletal system	nervous system	olfactory system	reproductive system	respiratory system	urinary system	visual system

Click cells to view annotations.

Assay Results

801
Tissues

52
cDNA Data

16
Literature Summary

3

Tissue x Stage Matrix

Other Mouse Links

Allen Institute

GENSAT

GEO

Expression Atlas
Other Vertebrate Links

Xenbase tor1b

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All Sequences

61
RefSeq

5
UniProt

6
CCDS

CCDS15890.1

Ensembl

ENSMUSG00000026848 (Evidence)
NCBI Gene

30934

			Length	Strain/Species	Flank
genomic	ENSMUSG00000026848	Ensembl Gene Model \| MGI Sequence Detail	6057	C57BL/6J	± kb
transcript	ENSMUST00000028199	Ensembl \| MGI Sequence Detail	3039	Not Applicable
polypeptide	ENSMUSP00000028199	Ensembl \| MGI Sequence Detail	336	Not Applicable

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UniProt

6 Sequences
Protein Ontology

PR:000016553 torsin-1B

(term hierarchy)
EC

3.6.4.-
InterPro Domains

IPR003593 AAA+ ATPase domain

IPR027417 P-loop containing nucleoside triphosphate hydrolase

IPR010448 Torsin

IPR017378 Torsin 1/2

IPR049337 Torsin-1A, C-terminal domain
GlyGen

Q9ER41 2 sites, 5 N-linked glycans (2 sites)

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All nucleic 18

Genomic 1

cDNA 16

Primer pair 1

Microarray probesets 8

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MGI:1917464

Summaries

All 38

Developmental Gene Expression 3

Gene Ontology 9

Phenotypes 7
Earliest

J:60248 Ozelius LJ, et al., The TOR1A (DYT1) gene family and its role in early onset torsion dystonia. Genomics. 1999 Dec 15;62(3):377-84
Latest

J:288753 Li J, et al., TorsinB overexpression prevents abnormal twisting in DYT1 dystonia mouse models. Elife. 2020 Mar 23;9:e54285

TSS for Tor1b:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr17156	Chr2:30842967-30843028 (+)	27 bp

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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