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Tor1b Gene Detail
Summary
  • 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
Location &
Maps
more
  • 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
Strain
Comparison
more
  • SNPs within 2kb
    287 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
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 (+)



Homology
more
  • 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
    NCBI Gene ID: 27348
    neXtProt AC: NX_O14657
    UniProt: O14657

  • Chr Location
    9q34.11; chr9:129803157-129811281 (+)  GRCh38
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    2 phenotypes from 2 alleles in 2 genetic backgrounds
    6 phenotypes from multigenic genotypes
    7 phenotype references
Phenotype Overview

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.
Mice homozygous for a null allele do not show any obvious abnormalities.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    30
  • GO References
    11
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.
Expression
less
Expression Overview

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
Sequences &
Gene Models
less
Representative SequencesLengthStrain/SpeciesFlank
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  
For the selected sequence
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 18
    Genomic 1
    cDNA 16
    Primer pair 1

    Microarray probesets 8
Other
Accession IDs
less
MGI:1917464
References
more
  • Summaries
    All 40
    Developmental Gene Expression 3
    Gene Ontology 11
    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
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)
Citing These Resources
Funding Information
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Send questions and comments to User Support. 		last database update
12/10/2024
MGI 6.24 		The Jackson Laboratory