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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
    mouse all
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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

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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