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TOR1B torsin family 1 member B [ Homo sapiens (human) ]

Gene ID: 27348, updated on 5-Mar-2024

Summary

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Official Symbol
TOR1Bprovided by HGNC
Official Full Name
torsin family 1 member Bprovided by HGNC
Primary source
HGNC:HGNC:11995
See related
Ensembl:ENSG00000136816 MIM:608050; AllianceGenome:HGNC:11995
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
DQ1
Summary
The protein encoded by this gene is an ATPase found primarily in the endoplasmic reticulum and nuclear envelope. This gene has a highly-similar neighboring gene, TOR1A, that encodes a protein that is likely to interact in a complex with this protein. Finally, this protein may act as a chaperone and play a role in maintaining the integrity of the nuclear envelope and endoplasmic reticulum. Several transcript variants, some protein-coding and others non-protein coding, have been found for this gene. [provided by RefSeq, Dec 2015]
Expression
Ubiquitous expression in colon (RPKM 11.2), gall bladder (RPKM 7.9) and 25 other tissues See more
Orthologs
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Genomic context

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See TOR1B in Genome Data Viewer
Location:
9q34.11
Exon count:
5
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (129803184..129811281)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (142007762..142015860)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (132565463..132573560)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:132504976-132505476 Neighboring gene prostaglandin E synthase Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:132537345-132537911 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:132539303-132539818 Neighboring gene H3K27ac hESC enhancer GRCh37_chr9:132543973-132544473 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29120 Neighboring gene Sharpr-MPRA regulatory region 3625 Neighboring gene UBE2V1 pseudogene 4 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20388 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20389 Neighboring gene Sharpr-MPRA regulatory region 13743 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29121 Neighboring gene torsin family 1 member A Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20390 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29122 Neighboring gene Sharpr-MPRA regulatory region 5710 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20391 Neighboring gene chromosome 9 open reading frame 78

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. TOR1B: a predictor of bone metastasis in breast cancer patients. Nguyen MN, et al. Sci Rep, 2023 Jan 27. PMID 36707670, Free PMC Article
  2. TorsinB expression in the developing human brain. Bahn E, et al. Brain Res, 2006 Oct 20. PMID 16938275
  3. Distribution of the mRNAs encoding torsinA and torsinB in the normal adult human brain. Augood SJ, et al. Ann Neurol, 1999 Nov. PMID 10553994
  4. Genetic evidence for an association of the TOR1A locus with segmental/focal dystonia. Sharma N, et al. Mov Disord, 2010 Oct 15. PMID 20669276, Free PMC Article
  5. Strong genetic evidence for association of TOR1A/TOR1B with idiopathic dystonia. Kamm C, et al. Neurology, 2006 Nov 28. PMID 17130424

See all (32) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. TOR1B: a predictor of bone metastasis in breast cancer patients.
    Title: TOR1B: a predictor of bone metastasis in breast cancer patients.
  2. the induction of a conditional, dominant-negative TorsinB variant provokes a profound reorganization of the endomembrane system into foci containing double membrane structures that are derived from the ER.
    Title: Arresting a Torsin ATPase reshapes the endoplasmic reticulum.
  3. Observational study of gene-disease association. (HuGE Navigator)
    Title: Genetic evidence for an association of the TOR1A locus with segmental/focal dystonia.
  4. torsinB is needed for developmental events occurring in the early postnatal phase and is necessary for functional activity throughout life
    Title: TorsinB expression in the developing human brain.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • MGC4386

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables ATP binding IEA
Inferred from Electronic Annotation
more info
  
enables ATP hydrolysis activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables identical protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables kinesin binding IBA
Inferred from Biological aspect of Ancestor
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 IDA
Inferred from Direct Assay
more info
 PubMed 
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
  
involved_in response to unfolded protein TAS
Traceable Author Statement
more info
 PubMed 
Component Evidence Code Pubs
located_in endoplasmic reticulum IDA
Inferred from Direct Assay
more info
 PubMed 
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 extracellular exosome HDA PubMed 
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 membrane IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
torsin-1B
Names
torsin ATPase-1B
torsin B

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)

  1. NM_001317893.2 → NP_001304822.1  torsin-1B isoform 2 precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an alternate exon and uses an alternate splice junction compared to variant 1. The resulting isoform (2) has a shorter and distinct C-terminus compared to isoform 1.
    Source sequence(s)
    AL158207
    UniProtKB/Swiss-Prot
    O14657
    Conserved Domains (1) summary
    cl21455
    Location:51 → 176
    P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

  2. NM_001317894.2 → NP_001304823.1  torsin-1B isoform 3 precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks two alternate exons and uses an alternate splice junction compared to variant 1. The resulting isoform (3) has a shorter and distinct C-terminus compared to isoform 1.
    Source sequence(s)
    AL158207
    UniProtKB/TrEMBL
    H0Y7C8
    Related
    ENSP00000411912.1, ENST00000427860.1
    Conserved Domains (1) summary
    cl21455
    Location:51 → 158
    P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

  3. NM_014506.3 → NP_055321.1  torsin-1B isoform 1 precursor

    See identical proteins and their annotated locations for NP_055321.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (1).
    Source sequence(s)
    AL158207
    Consensus CDS
    CCDS6929.1
    UniProtKB/Swiss-Prot
    O14657
    Related
    ENSP00000259339.2, ENST00000259339.7
    Conserved Domains (2) summary
    pfam06309
    Location:51 → 176
    Torsin
    TIGR02639
    Location:68 → 313
    ClpA; ATP-dependent Clp protease ATP-binding subunit clpA

RNA

  1. NR_133948.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) uses an alternate splice junction compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AL158207

  2. NR_134027.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) lacks two alternate exons compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AL158207

  3. NR_134113.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6) uses two alternate splice junctions compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AL158207

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000009.12 Reference GRCh38.p14 Primary Assembly

    Range
    129803184..129811281
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005251927.4 → XP_005251984.1  torsin-1B isoform X1

    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

RNA

  1. XR_007061278.1 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060933.1 Alternate T2T-CHM13v2.0

    Range
    142007762..142015860
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054362751.1 → XP_054218726.1  torsin-1B isoform X1

RNA

  1. XR_008487980.1 RNA Sequence

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
O14657.2 GenPept UniProtKB/Swiss-Prot:O14657

Gene LinkOut

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